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Schinzel-Giedion Syndrome Foundation

Schinzel-Giedion Syndrome Foundation

Providing support for families caring for a child with Schinzel-Giedion Syndrome.

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    • What is SGS
    • What causes SGS
    • Classical vs. Atypical SGS
    • Features of SGS
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In this photo: Avery

Our Mission

To provide support for families caring for a child with Schinzel-Giedion Syndrome (SGS), to raise awareness of SGS and to facilitate and support medical research.

About SGS

In this photo: Avery

Our Mission

Our mission is to provide support for families caring for a child with SGS, to raise awareness of Schinzel-Giedion Syndrome (SGS) and to facilitate and support medical research that will help us find better treatments to improve the quality and length of life of children living with this devastating rare genetic disorder.

About SGS

Did you miss the first ever SGS Virtual Family Conference on August 12-14th 2022?

Catch up on all the recorded sessions here!

Watch Now

Rare Disease Day

We have created a video to celebrate Rare Disease Day on February 28th 2021. The video features many of our inspirational children and reminds us all that there is happiness, fun and hope even in the darkest times.
Please share our video and consider donating to the SGS Foundation this Rare Disease Day. We are raising funds to support research into SGS and the symptoms which can seriously impact the quality and length of life of children living with this life-limiting rare disease.

A Wonderful Life for Scarlet

This incredible film was accepted to Disorder: The Rare Disease Film Festival which will take place in New York, November 2020. It features Scarlet, a little girl with Schinzel-Giedion Syndrome. Thank you to her family for sharing this honest and personal glimpse into their daily lives.

More Family Stories

“For us, the Schinzel-Giedion Syndrome Foundation means Hope.
Hope that we have a voice, Hope that the world will know our families and Hope that people are invested in our children’s futures.
The Foundation bridges the gap between families, researchers and medical professionals, for the benefit of children with Schinzel-Giedion Syndrome around the world.”

Jennifer Wagner, Trustee and mother to Scarlet, USA

Schinzel-Giedion Syndrome
Patient Voice Publication

The Schinzel-Giedion Syndrome Foundation has partnered with Prime Global to create this Patient Voice Publication to tell our story, highlighting what challenges children with SGS face and the everyday support they need. Please download and share this resource and help us spread awareness.

View & Download Here

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Feb 1

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For the next 4 weeks we will focus on, spread awareness about, and collect important information from our community about epilepsy which is one of the most severe symptoms SGS kids struggle with💜  #schinzelgiedionsyndrome #sgs #raredisease #Epilepsy

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Jan 8

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The symptoms of  Schinzel-Giedion is many and many of them are very severe too... 💜

Help us to raise funds for the important research, 
which aims to improve the quality of life for children  born with Schinzel-Giedion Syndrome.

Remember you can always donate using the donate button here or you can go to our website with the link  https://sgsfoundation.org/donate/

#schinzelgiedionsyndrome
#sgs

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Dec 31

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HAPPY NEW YEAR ✨💜

We'd like to thank all of you for your support during 2022. 
Thanks to you we have been able to continue our work for a future when all children with Schinzel-Giedion Syndrome will receive a rapid genetic diagnosis and have access to effective medical and gene therapies to ensure they live longer, healthier and happier lives.
The year 2023 will hopefully reveal some very interesting and exciting news.

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Dec 30

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New Year means new beginnings and fresh starts. 
Sometimes even new year resolutions. 
We hope that you’ll will consider making a New Year resolution to support our Foundation 💜💜💜
We rely on your generous donations to help us support important medical research into SGS. This research is vital to enable a better understanding of this very rare and life limiting syndrome and to ensure that our wonderful children are given the best quality of lives possible.
You can easily setup monthly donations on our website and you can also donate directly via our Facebook and Website www.sgsfoundation.org ✨💫 

Wishing you and yours a very happy new year! 
May 2023 bring you much joy and happiness!

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Dec 24

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Merry Christmas from all of us to all of you 💜🎄

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Dec 19

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A big big happy birthday to Willa, Bryson, Mariah and Eva and all the other SGS kids worldwide celebrating their birthdays in December 🎂❤️ #happybirthday #sgskids #schinzelgiedion #raredisease

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Dec 18

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Happy Hanukkah 🕎

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Dec 11

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Dear Santa, 
we are writing to you because we represent families from all over the world with kids who have schinzel-Giedion Syndrome. 
the kids have mainly been good kids - our kids are troublemakers too, but they definetely belong on the nice list. 
Our only wish this year is quite simple, and we really hope you make our wish come true. 

Donations to our foundation.

Merry christmas from
The Schinzel-Giedion Foundation 💜🎄

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Dec 3

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Happy #InternationalDayOfPersonsWithDisabilities 💜

The International Day of Persons with Disability (IDPWD) is a United Nations-sanctioned day that is celebrated internationally on December 3rd 💪🏼

The International Day of Disabled Persons aims to promote the rights and well-being of persons with disabilities in all spheres of society and development 💜💜💜

And also - did you know that one in every ten children is a child with a disability?

#schinzelgideonsyndrome 
#raredisease

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Dec 2

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Abbiamo ascoltato il tuo feedback! 
 
Il registro dei pazienti di SGS è ora disponibile in inglese, francese, tedesco, italiano e spagnolo. 
 
Per partecipare a tutti gli sforzi di ricerca di SGS e per informare l'imminente ricerca del dottor Ernst che abbiamo annunciato in occasione della Giornata di sensibilizzazione di SGS, richiedere l'accesso qui: https://sgsx.acrossmatrix.com/en-US/#/user-request 
 
Seleziona la tua lingua nell'angolo in alto a destra del modulo di richiesta di accesso per la traduzione. Dopo aver effettuato l'accesso al registro dei pazienti SGS sul sito Matrix, selezionare la lingua nell'angolo in alto a destra per tradurre il sito web. 
 
Come abbiamo fatto in modo che ciò accadesse? La SGS Foundation, in collaborazione con COMBINEDBrain, ha richiesto e ottenuto una sovvenzione per l'impatto sui pazienti RARE Global Genes Health Equity di $ 15.000. La sovvenzione è stata utilizzata per tradurre i ClinGen Health Surveys in francese, tedesco e italiano in modo che più pazienti affetti da malattie rare di tutto il mondo possano partecipare alla ricerca. 
 
Dana Bradley (all'estrema sinistra), una fiduciaria della Fondazione SGS, ha partecipato al Global Genes Rare Health Equity Summit per discutere la nostra sovvenzione con i partecipanti alla conferenza.

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Dec 2

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Wir haben Ihr Feedback gehört! 
 
Das SGS-Patientenregister ist jetzt auf Englisch, Französisch, Deutsch, Italienisch und Spanisch verfügbar. 
 
Um an allen Forschungsbemühungen von SGS teilzunehmen und über Dr. Ernsts anstehende Forschung zu informieren, die wir am SGS Awareness Day angekündigt haben, fordern Sie hier den Zugang an: https://sgsx.acrossmatrix.com/en-US/#/user-request 
 
Wählen Sie Ihre Sprache in der oberen rechten Ecke des Formulars „Zugriff anfordern“ für die Übersetzung aus. Nachdem Sie sich auf der Matrix-Website beim SGS-Patientenregister angemeldet haben, wählen Sie Ihre Sprache in der oberen rechten Ecke aus, um die Website zu übersetzen. 
 
Wie haben wir das bewerkstelligt? Die SGS Foundation bewarb sich in Partnerschaft mit COMBINEDBrain um einen Global Genes Health Equity RARE Patient Impact Grant in Höhe von 15.000 USD und erhielt diesen auch. Der Zuschuss wurde verwendet, um die ClinGen-Gesundheitsumfragen ins Französische, Deutsche und Italienische zu übersetzen, damit mehr Patienten mit seltenen Krankheiten aus der ganzen Welt an der Forschung teilnehmen können. 
 
Dana Bradley (ganz links), Treuhänderin der SGS Foundation, nahm am Global Genes Rare Health Equity Summit teil, um mit Konferenzteilnehmern über unsere Förderung zu sprechen.

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Dec 1

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We heard your feedback! 
 
The SGS Patient Registry is now available in English, French, German, Italian and Spanish. 
 
To participate in all SGS research efforts and to inform Dr Ernst’s upcoming research that we announced on SGS Awareness Day, request access here: https://sgsx.acrossmatrix.com/en-US/#/user-request

 
Select your language in the upper right-hand corner of the Request Access form for the translation.  Once you log into the SGS Patient Registry on the Matrix site, select your language in the upper right-hand corner to translate the website. 
 
How did we make this happen?  The SGS Foundation, in partnership with COMBINEDBrain, applied for and was awarded a $15,000 Global Genes Health Equity RARE Patient Impact Grant.  The grant was used to translate the ClinGen Health Surveys into French, German, and Italian so more rare disease patients from around the world can participate in research. 
 
Dana Bradley (far left), an SGS Foundation Trustee, attended the Global Genes Rare Health Equity Summit to discuss our grant with conference attendees.

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Dec 1

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¡Escuchamos sus comentarios! 
 
El Registro de pacientes de SGS ahora está disponible en inglés, francés, alemán, italiano y español. 
 
Para participar en todos los esfuerzos de investigación de SGS y para informar sobre la próxima investigación del Dr. Ernst que anunciamos en el Día de Concientización de SGS, solicite acceso aquí: https://sgsx.acrossmatrix.com/en-US/#/user-request 
 
Seleccione su idioma en la esquina superior derecha del formulario Solicitar acceso para la traducción. Una vez que inicie sesión en el Registro de pacientes de SGS en el sitio de Matrix, seleccione su idioma en la esquina superior derecha para traducir el sitio web. 
 
¿Cómo hicimos que esto sucediera? La Fundación SGS, en asociación con COMBINEDBrain, solicitó y recibió una subvención de impacto para pacientes RARE de Global Genes Health Equity de $15,000. La subvención se utilizó para traducir las encuestas de salud de ClinGen al francés, alemán e italiano para que más pacientes con enfermedades raras de todo el mundo puedan participar en la investigación. 
 
Dana Bradley (extremo izquierdo), fideicomisaria de la Fundación SGS, asistió a la Cumbre de Equidad en Salud Global Genes Rare para hablar sobre nuestra subvención con los asistentes a la conferencia.

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Nov 29

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Watch how you can easily translate our website to a language of your choice 🟣

#schinzelgiedionsyndrome 
#raredisease

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Nov 28

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NO CYBER MONDAY OFFERS HERE, but remember you can always send us a donation on https://sgsfoundation.org/donate/ 💜✨

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Nov 25

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We can’t offer you any discount, but we hope you will send us a donation 🖤💜🖤

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#blackfriday
#raredisease

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Nov 13

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💜HAPPY SCHINZEL-GIEDION AWARENESS DAY 2022💜 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 13

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💜HAPPY SCHINZEL-GIEDION AWARENESS DAY 2022💜 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 11

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Wear purple, make your own shirt, or buy some merchandise from our Bonfire store and get people asking about SGS. 

Wear your apparel to the doctors offices, the grocery store, a family party! Invite friends over for a cup of coffee in a SGS mug 💜
The more people we tell about this syndrome, the better. 
Let’s spread awarenes. 

If you want to purchase SGS merchandise, visit our Bonfire store https://www.bonfire.com/store/schinzel-giedion-syndrome-foundation/ . 

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/

#schinzelgiedionsyndrome
#sgs
#awarenessday2022

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Nov 10

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The symptoms of Schinzel-Giedion is many and many of them are very severe too... 💜

Help us to raise funds for the important research, which aims to improve the quality of life for children born with Schinzel-Giedion Syndrome.

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/

#schinzelgiedionsyndrome
#sgs
#awarenessday2022

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Nov 10

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Dr Christy Zigler is helping the SGS Foundation by measuring communication in children with SGS. 

She is using the ORCA study. The findings of this important study will help us learn more and support our children in everyday life. This could result in new therapies and treatments.

Please go to our YouTube Channel to learn more about the ORCA Study and the work of Dr. Christy Zigler 

https://www.youtube.com/watch?v=eNHaci_bCIU

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/

#schinzelgiedionsyndrome
#sgs
#awarenessday2022

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Nov 9

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Families of SGS children, please sign up for Patient Registry. 

Taking part in the SGS registry is YOUR chance to to ensure your child’s experiences with SGS help doctors and scientists to learn more about SGS and develop new treatments for this rare condition. 

You can sign up and join the registry by going to http://sgsx.acrossmatrix.com/#/user-request/ 

If you would like help getting started, we can do a one-to-one walk through on Zoom. Please contact us at contact@sgsfoundation.org 

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/

#schinzelgiedionsyndrome
#sgs
#awarenessday2022

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Nov 8

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Did you know we had our very first Virtual Family Conference in August? 

We had all the amazing sessions and presentations taped for you to watch. Go to the website through the link below to learn more. You can even have the presentations translated 💜👏🏼

https://sgsfoundation.org/foundation-organizes-first-virtual-sgs-family-conference-aug-01-2022/

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 7

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Follow, like, comment, and share SGS Foundation’s posts. This will help spread information about this rare disease with your social media network. You can find us on Facebook, Instagram and Twitter 💜

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 6

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For Amazon users in the UK, sign up for Amazon Smile!
Amazon donates money to our charity at no cost to you. You make your normal purchases and Amazon sends the SGS Foundation a donation.  It is super easy to sign up. Click here to get started https://smile.amazon.co.uk/gp/chpf/homepage/ref=smi_chpf_redirect?ie=UTF8&ein=1186327-0&ref_=smi_ext_ch_1186327-0_cl

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 5

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SGS children need high-level support and 24/7 care 💜
The SGS Foundation website is a place where families can get resources and take them to doctors.

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 4

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The SGS Foundation does not want families to feel alone when they get a SGS diagnosis. 

That is why we have teamed up with Colorado Children’s’ Hospital to create a Center of Expertise! This collaboration will cost us $15K / year.

You can help give families a way to connect by donating to the SGS Foundation, even a small donation creates a ripple.

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 3

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There is no cure for SGS nor are there targeted treatments available currently. 
The SGS Foundation is trying to change that! 

The SGS Foundation research priority is targeting the severe epilepsy in our children.

With your help we can raise awareness and funds to accelerate this research.

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 2

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The more we talk about SGS the more people are familiar with it!
Below is some basic information about Schinzel-Giedion Syndrome. Share this information with five people today, so we can tell the world about SGS!

What is SGS?
A severe, life-limiting condition caused by mutations in the SETBP1 gene, which plays a key role in the development of the brain and many other organs.

Approximately 100 children worldwide have been diagnosed with SGS.

Children with SGS have neurodevelopmental delay and uncontrollable seizures, and sadly many will die before their fourth birthday 💜

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Nov 1

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Just Giving is a great place to create your own fundraiser 💪🏼💜

Create a Just Giving Fundraiser by going to their website www.justgiving.com
Search “Schinzel Giedion.”
Scroll to the bottom of the page and click The Schinzel-Giedion Syndrome Foundation charity.
You can choose to fundraise or donate.
Look at ideas for hosting an event if you want to create a fundraiser. 

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Oct 30

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You want to donate each month, but forget to do it … we have an answer for that!

When donating on our website or Facebook, you can choose to set it up as a monthly donation. Sign up for the year in one easy step. 

If you would like to suspend or cancel your donation, just reach out to SGS Foundation directly at any time.

You can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday2022

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Oct 26

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What are you good at? Can you bake yummy goodies? Can you draw amazing pictures? Can you tell a joke for each dollar donated? Think outside the box and come up with a fundraiser. Post a video of you telling why you are fundraising for SGS! 

Remember you can always donate using the donate button here or you can go to our website with the link https://sgsfoundation.org/donate/ 

#schinzelgiedionsyndrome 
#sgs
#awarenessday 2022

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Oct 25

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For our 3rd Awareness Day on November 13th we focusing on creating ripples 💜

The Starfish Story: one step towards changing the world

Once upon a time, there was an old man who used to go to the ocean to do his writing. He had a habit of walking on the beach every morning before he began his work. Early one morning, he was walking along the shore after a big storm had passed and found the vast beach littered with starfish as far as the eye could see, stretching in both directions. 
Off in the distance, the old man noticed a small boy approaching.  As the boy walked, he paused every so often and as he grew closer, the man could see that he was occasionally bending down to pick up an object and throw it into the sea.  The boy came closer still and the man called out, “Good morning!  May I ask what it is that you are doing?”
The young boy paused, looked up, and replied “Throwing starfish into the ocean. The tide has washed them up onto the beach and they can’t return to the sea by themselves,” the youth replied. “When the sun gets high, they will die, unless I throw them back into the water.”

The old man replied, “But there must be tens of thousands of starfish on this beach. I’m afraid you won’t really be able to make much of a difference.”

The boy bent down, picked up yet another starfish and threw it as far as he could into the ocean. Then he turned, smiled and said, “It made a difference to that one!”

adapted from The Star Thrower, by Loren Eiseley (1907 – 1977)

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Oct 23

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We need you to help us create a ripple! 
We have our third Awareness Day on November 13th 🎂

Every act counts and every donation matters - no such thing as too small 💜💜💜

#schinzelgiedion
#schinzelgiedionawareness
#awarenessday2022

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Oct 23

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We are so excited and proud! 
Our 3rd Awareness Day is coming up in one month exactly - on November 13th 💜 #schinzelgiedionsyndrome #sgs #genetics #epilepsy #awareness

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Oct 23

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During our very first Schinzel-Giedion Syndrome Virtual Family Conference, we heard presentations from many amazing speakers and guests. The recordings of all the sessions are now available for those of you who could not attend on the day and anyone who would like to watch the presentations again.
 
All the presentations can be watched on our website and on our SGS Foundation YouTube channel, and you can easily turn on subtitles / closed captioning, translated into the language of your choice! Watch this quick instructional video to see how https://www.youtube.com/watch?v=Bm_92T0M6qQ
 
Dr. Jessica Duis gave a really good presentation about the genetics and clinical features of Schinzel-Giedion syndrome. This presentation explains what causes SGS and explains the common symptoms that the kids struggle with and a lot more. Please go to https://youtu.be/IVB-hWmsFNc to watch the presentation. 

However there is still so much more to learn about SGS, which is why our SGS Patient Registry is so important! SGS is a very rare condition and so it is vital that we collect as much health data about our children as possible to help us as parents, as well as doctors and researchers, understand their symptoms even better. This information will then help us develop new treatments for SGS and even one day may be a cure!
 
If you haven’t signed up yet and joined our SGS Patient Registry, please go to https://sgsx.acrossmatrix.com/#/user-request/ to sign up. Taking part in the SGS registry is YOUR chance to ensure your child’s experiences with SGS help doctors and scientists to learn more about SGS and develop new treatments for this rare condition.
 
If you’d like help getting started with the SGS registry, we can do a 1-to-1 walk-through on Zoom with you to familiarise you with the registry platform. Please contact us at contact@sgsfoundation.org if you’d like us to help you get started #schinzelgiedionsyndrome #sgs #raredisease #epilepsy #genetics

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Oct 23

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During our very first Schinzel-Giedion Syndrome Virtual Family Conference, we heard presentations from many amazing speakers and guests. The recordings of all the sessions are now available for those of you who could not attend on the day and anyone who would like to watch the presentations again.
 
All the presentations can be watched on our website and on our SGS Foundation YouTube channel, and you can easily turn on subtitles / closed captioning, translated into the language of your choice! Watch this quick instructional video to see how https://www.youtube.com/watch?v=Bm_92T0M6qQ
 
Dr. Christy Zigler gave a really good presentation on The ORCA Study. The ORCA (observer-reported communication assessment) was a questionnaire originally designed to assess communication abilities in children with Angelman Syndrome. Now the ORCA study is assessing the ability of the ORCA questionnaire to measure communication in children with other neurodevelopmental disorders, including Schinzel-Giedion Syndrome. The findings of this important study will help us to learn more and to support our children in everyday life, as well as helping researchers to measure improvements in communication ability that might result from new drug treatments that are developed for SGS.
 
Right now, SGS parents from all over the world are participating in the E-ORCA study. If you would like to take part, please contact us at contact@sgsfoundation.org to find out more.

Click on the link below to watch the presentation from Dr. Christy Ziegler. 
 
And one more thing! If you haven’t yet signed up and joined our SGS Patient Registry, please go to https://sgsx.acrossmatrix.com/#/user-request/ to sign up. Taking part in the SGS registry is YOUR chance to ensure your child’s experiences with SGS help doctors and scientists to learn more about SGS and develop new treatments for this rare condition.
 
If you’d like help getting started with the SGS registry, we can do a 1-to-1 walk-through on Zoom with you to familiarise you with the registry platform. Please contact us at contact@sgsfoundation.org if you’d like us to help you get started #schinzelgiedionsyndrome #sgs #schinzelgiedion #raredisease

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Oct 23

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During our very first Schinzel-Giedion Virtual Family Conference we heard presentations from many amazing speakers and guests. We are now ready with the recordings for those of you who could not attend and also those of you who would like to watch the presentations again. 

All the presentations are available for you to find on our SGS Foundation YouTube channel, and you can have them translated to the language of your choice! 

Our Chair Nuala Summerfield gave a great introduction and a quick guide on how to get started with our Patient Registry, which you can find via the link down below. 

If you have not yet signed up and joined our SGS Patient Registry, please go to https://sgsx.acrossmatrix.com/#/user-request to sign up. 

If you’d like help getting started with the SGS registry, we can do a 1-to-1 walk-through on Zoom with you to familiarise you with the registry platform. Please contact us at contact@sgsfoundation.org if you’d like us to help you get started #schinzelgiedionsyndrome #raredisease #epilepsy #awareness #patientregistry

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Oct 23

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You asked and we listened: Translations are now available!
 
Our recordings from our Virtual Family Conference are now live on our Schinzel-Giedion Foundation YouTube channel https://www.youtube.com/playlist?list=PL1Yq-rvIAVOmAvf3Sa8_UMl3IXQA3-idj
 
To watch these talks with translated sub-titles in your own language, please watch this video https://www.youtube.com/watch?v=Bm_92T0M6qQ for instructions on how to turn on auto-translations in YouTube. #schinzelgiedionsyndrome #epilepsy #raredisease #raresyndrome #raresyndromeawareness

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Oct 23

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You asked and we listened: Translations are now available!
 
We are so pleased to announce that our website www.sgsfoundation.org now has a new translation function.
You will see a drop down menu on the lower right hand corner of the page on both a PC and mobile device, from which you can choose your preferred language. 
 
(Please note that this function uses Google Translate technology, so The Schinzel-Giedion Syndrome Foundation is not responsible for the accuracy of the translation). #schinzelgiedionsyndrome #raredisease #epilepsy

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Oct 23

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You asked and we listened: Translations are now available!
 
Our SGS Patient Registry platform will be soon be fully translated into four additional languages - German, French, Spanish and Italian.
 
If you have not yet signed up and joined our SGS Patient Registry, please go to https://sgsx.acrossmatrix.com/#/user-request  to sign up.
 
If you’d like help getting started with the SGS Registry, we can do a 1-to-1 walk-through on Zoom with you to familiarise you with the registry platform. Please contact us at contact@sgsfoundation.org if you’d like us to help you get started so you and your child can be a part of this very important project.
Let’s work together to make the future brighter for all children born with SGS #schinzelgiedionsyndrome #raredisease #epilepsy

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Oct 23

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The mother of sweet Nymeria explains why she has joined our Patient Registry 💜

If you have not yet signed up and joined our SGS Patient Registry, please go to https://sgsx.acrossmatrix.com/#/user-request  to sign up.
 
If you’d like help getting started with the SGS Registry, we can do a 1-to-1 walk-through on Zoom with you to familiarise you with the registry platform. Please contact us at contact@sgsfoundation.org if you’d like us to help you get started so you and your child can be a part of this very important project.
Let’s work together to make the future brighter for all children born with SGS #schinzelgiedionsyndrome #raredisease #epilepsy #patientregistry

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Oct 23

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In August we had our very first Schinzel-Giedion Virtual Family Conference with many amazing speakers and guests. We are now ready with the recordings for those of you who could not attend and also those of you who would like to watch the presentations again. 

All the presentations are available for you to find on our SGS Foundation YouTube channel, and you can have them translated to the language of your choice! 

Dr Terry Jo Bichell from @combinedbrain gave a great presentation about The Importance of Patient Registries. 

If you have not yet signed up and joined our SGS Patient Registry, please go to https://sgsx.acrossmatrix.com/#/user-request to sign up. 

If you’d like help getting started with the SGS registry, we can do a 1-to-1 walk-through on Zoom with you to familiarise you with the registry platform. Please contact us at contact@sgsfoundation.org if you’d like us to help you get started. #schinzelgiedionsyndrome #sgsfoundation #raredisease #patientregistry

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Oct 23

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Want us to stay in touch?
We have so many exciting projects going on and also news and stories we would like to share with you, so please go to www.sgsfoundation.org and sign up to our newsletter 📝 #sgsfoundation #schinzelgiedionsyndrome #epilepsy #raredisease #tubielife #syndrome

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Aug 12

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Wow! What an amazing start to our first ever Virtual Family Conference 🧬

Thank you all for listening and a big thank you to the speakers for their presentations. 

See you tomorrow for day 2!

It is not too late to sign up. Just click the link: 

https://docs.google.com/forms/d/e/1FAIpQLSe6V2vrtyFYds2KeFSH_ayMIW1eVvhu-XxigfbgE9hZRNwolQ/viewform

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Aug 11

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We are so excited! The World’s first SGS Family Conference! 

Did you forget to sign up? Here is the link for you! 

https://docs.google.com/forms/d/e/1FAIpQLSe6V2vrtyFYds2KeFSH_ayMIW1eVvhu-XxigfbgE9hZRNwolQ/viewform

Attendance is free of charge and all you need is to set up Zoom video on your mobile phone or laptop. 

If you cannot attend all or some of the sessions please still register using this link, as then we will send you the link to watch the recorded sessions afterwards. 

See you tomorrow! 🖥💜 #schinzelgiedionsyndrome #raredisease #epilepsy

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Aug 5

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VIRTUAL FAMILY CONFERENCE 🧬
12-14th August 📌

Day 3 - August 14th

SGS Patient Registry - Learn how collecting health information will help work towards developing life-changing treatments for SGS
 
Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. 
When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. 
She was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018. 
Dr. Bichell founded a non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations. ��The SGS Foundation is an active member of COMBINEDBrain and is very grateful for the opportunities that membership has afforded including the ORCA study, the Disease Concept Study, the biorepository and our patient registry natural history study on the Matrix platform.

Sign up to take part in the conference here:

https://docs.google.com/forms/d/e/1FAIpQLSe6V2vrtyFYds2KeFSH_ayMIW1eVvhu-XxigfbgE9hZRNwolQ/viewform  #schinzelgiedionsyndrome #raredisease #registry #patientregistry #epilepsy

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Aug 4

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Haven’t signed up for the conference yet? 📣 💜 Link for sign up in highlights.

The conference is set to last two hours a day and if you can’t make it for all 3 days, you can take part in the number of days that suit you the best.

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Aug 4

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VIRTUAL FAMILY CONFERENCE 🧬
12-14th August 📌

Day 2 - Understanding the basic genetics and clinical features of SGS
 
Dr Jessica Duis trained at Johns Hopkins in Baltimore, MD, where she focused her work on epigenetic disorders. She has built multidisciplinary Centers of Excellence across the United States with a focus on patient care, establishing standards of care, translational research, clinical trial design, and outcome measures. 
She is an expert of Angelman, Duplication 15q, and Prader-Willi syndromes and has published guidelines on their management. Her research has included investigator-driven clinical trials and translational outcome measure design both in the lab and in the natural environment. Dr Duis is currently collaborating with The Schinzel-Giedion Syndrome Foundation to develop Standards of Care Guidelines and a Center of Excellence for SGS.

Sign up to take part in the conference here:

https://docs.google.com/forms/d/e/1FAIpQLSe6V2vrtyFYds2KeFSH_ayMIW1eVvhu-XxigfbgE9hZRNwolQ/viewform  #schinzelgiedionsyndrome #raredisease #genes #mutation #setbp1 #sgs #epilepsy

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Aug 4

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VIRTUAL FAMILY CONFERENCE 🧬
12-14th August 📌

Day 1 - August 12th
ORCA Study - Learn how you can get involved
 
Dr. Zigler is a psychometrician and statistician by training, she uses rigorous, patient-centered methods to develop and evaluate clinical outcome measures. Specifically, her primary interest is in designing tools for children with rare diseases so that their voices and the voices of their families can be prioritized in research.

Dr. Zigler was part of the team that developed the Observer-Reported Communication Ability (ORCA) measure through a partnership with the Foundation for Angelman Syndrome Therapeutics (FAST). The ORCA measure was designed for use in clinical trials to capture caregiver perceptions of communication ability for individuals with Angelman syndrome, a rare neurodevelopmental disorder.

Dr. Zigler is currently working on methods to scale up the ORCA measurement model and gather sufficient validity evidence for its use in other neurodevelopmental disorders with similar communication impacts like SGS.

Sign up to take part in the conference here:

https://docs.google.com/forms/d/e/1FAIpQLSe6V2vrtyFYds2KeFSH_ayMIW1eVvhu-XxigfbgE9hZRNwolQ/viewform  #schinzelgiedionsyndrome #raredisease #epilepsy #communication #study #conference #showyourrare #sgs

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Aug 1

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VIRTUAL FAMILY CONFERENCE 2022:
Understanding Cortical Visual Impairment

Chris is a Teacher of the Blind/Visually Impaired (TVI), working with children with varying degrees of visual impairment and additional disabilities, including deafblindness. He presents widely on topics such as educational best practices, curriculum adaptations, emergent communication development and various eye conditions and their implications.

Chris is past president of the New York Association for Education and Rehabilitation of Blind/Visually Impaired (NYSAER) and remains on the board today. Chris currently serves on the DeafBlind International Network of the Americas board. 

We hope you can attend this session and others during our first ever SGS Virtual Family Conference August 12-14. 

Sign up here: https://docs.google.com/forms/d/e/1FAIpQLSe6V2vrtyFYds2KeFSH_ayMIW1eVvhu-XxigfbgE9hZRNwolQ/viewform  #schinzelgiedionsyndrome #familyconference #raredisease #raresyndrome #epilepsy #cvi #corticalvisualimpairment

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Jul 17

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SGS VIRTUAL FAMILY CONFERENCE 2022🎯

You are not going to want to miss out on our first ever SGS Virtual Family Conference. We have exciting news and presentations. 

The conference will be held August 12-14. Each day will focus on a different aspect of SGS and the Foundation. You can attend all sessions (2 hours a day) or just one session. It's not an all or nothing option, come to what you can. It will be worth your time. 

Please share this conference invite with friends and family that have expressed interest in learning more about SGS. Make sure to fill out the form to attend. We look forward to meeting with everyone in a month! #schinzelgiedionsyndrome #raredisease #conference #family #combinedbrain #sgs #syndrome #epilepsy

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Jul 15

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A big happy birthday to Jude and Ava and all the other SGS kids worldwide celebrating their birthdays in July ❤️ #happybirthday #sgskids #schinzelgiedion #raredisease

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Jul 5

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Our July 2022 newsletter has just been published. To sign up to receive a copy, please visit our website https://sgsfoundation.org/newsletters/ #sgs #schinzelgiedionsyndrome #raredisease

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Apr 12

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Exciting news! 
 
After a lot of planning and preparation, the world’s- first Schinzel-Giedion Syndrome Patient Registry will launch at the end of this month.
 
The launch of the SGS Patient Registry marks a very important milestone in the path to developing future treatments for our children with SGS. #schinzelgiedionsyndrome #patientregistry #raredisease @combinedbrain

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Apr 10

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In march we had 3 special birthdays! 
Marina and Dasha turned 2 years old, and Ophelia celebrated her 11th birthday ❤️
Congratulations sweethearts 💜 #schinzelgiedionsyndrome #sgs #raredisease #birthday

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Feb 28

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Today is Rare Disease Day 2022 💚💜💙 @combinedbrain @rarerevolutionmagazine @eurordis @geneticallianceuk @globalgenes @rarediseasedayofficial

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Dec 30

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New Year means new beginnings and fresh starts. Sometimes even new year resolutions. 
We hope that you’ll will consider making a New Year resolution to support our Foundation 💜💜💜

We rely on your generous donations to help us support important medical research into SGS. This research is vital to enable a better understanding of this very rare and life limiting syndrome and to ensure that our wonderful children are given the best quality of lives possible.

You can easily setup monthly donations on www.JustGiving.com and you can also donate directly via our Facebook and Website www.sgsfoundation.org ✨💫 

Wishing you and yours a very happy new year! May 2022 bring you much joy and happiness! 
#happynewyear #newyear2021 #2022 #schinzelgiedionsyndrome #raredisease

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Dec 27

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Merry Christmas from Denmark! 

Rigtig glædelig jul fra Emma og hendes familie. Vi håber I har haft en dejlig jul med jeres nærmeste og går et roligt nytår i møde 🎄

Vores ønske for Emma i 2022 er flere perioder uden sygdom og at få hendes epilepsi under control ❤️

***

Merry Christmas from Emma and her family. We hope you have had a wonderful Christmas with your loved ones and will have a happy New Year 🎄

What we wish for Emma for 2022 is longer periods without illness and to get her epilepsy under control ❤️ #raredisease #schinzelgiedionsyndrome #epilepsy #christmas #merrychristmas

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Dec 21

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Merry Christmas from Ava’s family 🎄

“If we could grant one wish for Ava it would be for her to be comfortable and happy! We would love to see her smile more and to be able to have less issues with her seizures and secretions. Ava is a strong little lady! 

We hope to have as many years with her as we can! We want to wish everyone in our lives a happy holidays! Go Bucks!” #sgs #schinzelgiedionsyndrome #raredisease #merrychristmas

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Dec 16

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“The Pomeroy’s would like to wish everyone a very happy and healthy Christmas. 

If we could have just one Christmas wish for Finn it would be to see him smile. He’s such a happy and content little boy whose smile we’re sure would brighten anyone’s day x” #sgs #schinzelgiedion #raredisease #merrychristmas #greeting

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Dec 14

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Merry Christmas everybody 💜

“The Higuera Family from the US wish you all a happy holidays full of joy, love faith.
 
The wish for our Sadie and for all the SGS children is a happy and healthy life.
 
I wish to have many many more years with Sadie and I wish for a cure for SGS 🌠
Don't lose hope and always believe in miracles 💜
Happy Holidays!” #sgs #schinzelgiedionsyndrome #raredisease #happyholidays #christmas

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Dec 12

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A special Christmas greeting from Italy 🎄

What would I like from Santa Claus? I would like a miracle, that our Elisa did not have this terrible disease, the schilzen giedion syndrome, since I am asking too much then maybe you could help in the genetic research to a cure of this disease or at least have a quality of better life, no more epileptic seizures, scoliosis, reflux, dystonia, hypotonia and muscle hypertonia, chronic urinary tract infections, bronchitis, it would already be nice so dear Santa Claus, but know that we will always love our Elisa even so exactly for as she is, as we immediately loved her from the moment we saw her being born ❤

Cosa vorrei da babbo natale?vorrei un miracolo,che la nostra Elisa non avesse questa terribile malattia,la sindrome di schilzen giedion, siccome ti chiedo troppo allora forse potresti aiutare nella ricerca genetica ad una cura di questa malattia o per lo meno avere una qualità di vita migliore, senza più crisi epilettiche, scoliosi, reflusso,distonia,ipotonia e ipertonia muscolare, infezioni alle vie urinarie croniche,bronchiti,sarebbe già bello così caro babbo natale,ma sappi che noi ameremo per sempre la nostra Elisa anche così esattamente per come è lei,così come l abbiamo subito amata dall istante in cui l abbiamo vista nascere ❤ #christmas #schinzelgiedionsyndrome #raredisease #greeting

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Dec 10

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Merry Christmas from Canada 🎄

"We feel very blessed that Ross is relatively healthy. He would not be, nor would the rest of the family be, who we are today without the resilience, patience, strength and loving happy nature that he has shown through all the surgeries, procedures etc. that he has faced through the years! He is a shining and inspiring example of courage and love to all who know him!

Ross really misses his siblings, who live on the other side of our vast country (Canada) and we pray we can all live near each soon!" #schinzelgiedionsyndrome #sgs #raredisease #merrychristmas #greeting

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Dec 8

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“The Wagner’s from the US wish the SGS community a holiday season full of joy, hope, and peace!

What would we wish for our SGS child at Christmas? 
Our wish for Scarlet would have been a life of more comfort and freedom from seizures and infections. More than anything we wish we could have had more years with her. She was our earth Angel who now looks over us from above.” #sgs #schinzelgiedionsyndrome #raredisease #greeting #christmas #family

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Dec 6

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A Christmas greeting from Germany 💜

“Carla and family wishes everybody merry Christmas and all of your wishes come true🙏 

Ich würde mir wünschen das Carla mit mir sprechen könnte. Was sie fühlt, wie es ihr geht und was sie braucht. Ich würde ihr sagen wie sehr ich sie liebe und das ich sehr stolz auf sie bin. Das wäre mein größter Wunsch, das Carla mich verstehen könnte😌

Christmas greetings from Germany 🎄🎅🏻❤️☃️” #schinzelgiedionsyndrome #sgs #greeting #christmas #raredisease

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Dec 4

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A Christmas greeting from Oklahoma, US 💜

“Merry Christmas from our family to yours!  We wish you a happy healthy Christmas 🎄

What I wish for for my child for Christmas is that he could get down in the floor and run and play with his brother and sister and his new toys ❤️” #schinzelgiedionsyndrome #raredisease #christmas #christmasgreetings

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Dec 3

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Happy #InternationalDayOfPersonsWithDisabilities 💜

The International Day of Persons with Disability (IDPWD) is a United Nations-sanctioned day that is celebrated internationally on December 3rd 💪🏼

The International Day of Disabled Persons aims to promote the rights and well-being of persons with disabilities in all spheres of society and development 💜💜💜

And also - did you know that one in every ten children is a child with a disability? #sgs #schinzelgiedionsyndrome #disability #internationaldayofpeoplewithdisability

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Dec 2

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During December we will share Christmas Greetings from our community 💜
Please meet our first family 🎄

The Hudsons from the UK wish the SGS community a happy, safe and hospital-free Christmas! We look forward to continuing the work of the SGS Foundation in 2022.

What would we wish for our SGS child at Christmas? 
We wish that Jude can fall to sleep peacefully and calmly without the need for medication. He is so tired at the end of the day but he often cannot sleep due to seizure activity #sgs #schinzelgiedionsyndrome #christmas

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Nov 29

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With #GivingTuesday tomorrow, please consider setting up your own personal Facebook fundraisers for The SGS Foundation to share with your friends and family, to raise money to support important medical research for our children.

The SGS Foundation is completely run by parent volunteers and **100% of all funds raised goes to support vital medical research. **

The Biorepository project is one of these important research projects and a number of our families have already submitted blood samples from their children to the SGS biorepository.

Once the blood samples arrive at the Biorepository, cells from these blood samples will then be turned into a special type of cell called a stem cell, that can be used to study SGS symptoms such as **epilepsy **in much more detail. Ultimately this will allow researchers to develop new drug treatments for our children, such a drugs to control seizures properly in our children.

The Biorepository is just one of the important research projects that your donations will help to fund. All donations make a difference, whatever amount you can afford to give.

And if you need help setting up a personal fundraiser on Facebook, let us know and we will be happy to help you.

A BIG THANK YOU from all of our SGS families around the world 💜🙏💜 

#sgsawareness #GivingTuesday2021 #epilepsy #schinzelgiedionsyndrome #raredisease

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Nov 29

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Shop #AmazonSmile this holiday season to help us understand more about Schinzel-Giedion Syndrome 💜

Choose the Schinzel-Giedion Syndrome Foundation as your charity of choice and Amazon will donate a portion of every purchase you make to help families affected by SGS. As The SGS Foundation is a UK registered charity, you may only be able to find us on Amazon Smile UK. #sgs #schinzelgiedionsyndrome #holidays #raredisease

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Nov 28

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This weekend Black Friday is on everybody’s mind, and it is all about saving money and getting the best discounts. 

We can’t offer you a mind blowing discount, but we can offer you the opportunity to change the lives of children born with Schinzel-Giedion Syndrome an ultra rare and life-limiting genetic disorder 💜

Please go to our website www.sgsfoundation.org to make a donation.

Our foundation is run by volunteers. 100% of all donations go towards our mission of raising awareness and supporting SGS research. #sgs #schinzelgiedionsyndrome #schinzelgiedion #givingtuesday #makeadifference

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Nov 27

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Today it is 2 weeks since we celebrated our 2nd Awareness Day 💜🎊💜

We are so proud of the level of engagement, we have seen, and especially seeing the SGS frames spreading on all over the World on social media. 
We have raised more than £875 and we are on the right track towards our goal of £10.000 and the World’s first Schinzel-Giedion Syndrome biorepository 💜

If you wish to make a contribution to our fundraiser, please go to the our website and click the donate button. 

Our foundation is run by volunteers. 100% of all donations go towards our mission of raising awareness and supporting SGS research 💜 #sgs #schinzelgiedionsyndrome #awareness #donation

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Nov 22

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Hip hip hooray! 🎉🎊 
We have two special birthdays to celebrate this month! 
A big big happy birthday Ross and Lincoln 💜 #birthday #sgs #schinzelgiedionsyndrome

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Nov 13

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Welcome to the second official SGS Awareness Day!
 
We are so happy you can join us today to raise awareness of Schinzel Giedion Syndrome and encourage fundraising for the SGS Foundation’s mission.
 
1. Donate to our fundraiser to support the establishment of the first SGS biorepository.
 
2. Start the day by sharing your Shine for SGS photo frame featuring your SGS child.
 
3. Light a candle today and share on social media to join our international community in remembering all SGS children around the world.
 
4. Join the first ever global database of SGS children. Parents and carers of children with SGS from around the world can enrol online.

Hashtags to use on social media today
#sgsawarenessday #sgs #raredisease #schinzelgiedionsyndrome #rarediseaseawareness #setbp1 #epilepsy #awareness #awarenessraising #chromosome18

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Nov 12

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💜🔮SGS Awareness Day 2021 - Top Tip 5🔮💜
 
The colour purple! 
 
Wear purple on Saturday and spread the SGS colour around your social media channels. Even better, purchase an item of SGS branded merchandise from our Bonfire shop.  A proportion of all sales of SGS merchandise are received by the SGS Foundation, so not only will you look great in purple but you will help to fund research into SGS 💜
 #SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #NeuroendothelialTumours #Genetics101 #GeneticsExplained

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Nov 12

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💜 SGS Awareness Day 2021 - Top Tip 4 💜
 
SGS awareness is for life, not just for today!​
 
Show your support for SGS year round by setting up a personal recurring donation on our ​website or Facebook.  Sign up for the year in one easy step. If you would like to suspend or cancel your donation, just reach out to SGS Foundation directly at any time 💜#sgsawarenessday #sgs #raredisease #schinzelgiedionsyndrome #rarediseaseawareness #setbp1 #epilepsy #awareness #awarenessraising #chromosome18

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Nov 12

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💜🕯SGS Awareness Day 2021 - Top Tip 3🕯💜
 
​Shine for SGS tomorrow!
 
Light a candle on our special day and remember or think about SGS children and their families around the world. 
 
Share a photo of your candle on social media with the #sgsawarenessday #raredisease #schinzelgiedionsyndrome #rarediseaseawareness #setbp1 #epilepsy

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Nov 12

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Have you thought about donating or fundraising for us? 💜 We hope to establish the World’s first SGS Biorepository, and you can help us! 
Please know that every donation matters. You can donate easily on our website. Thank you 💜
 #SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #NeuroendothelialTumours #Genetics101 #GeneticsExplained

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Nov 12

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The Schinzel-Giedion Syndrome Foundation has an official International Awareness Day on 13th November each year - the date the Foundation received its official registration as a UK charity.

SGS Awareness Day aims to encourage families around the world to share photos and stories about their wonderful SGS children and information about their condition, whilst fundraising to fund medical research into SGS.

Our fundraising aim for this year is to raise £10,000 (equivalent to €12,000 or $14,000) to establish the first SGS Biorepository.

To donate to the SGS Foundation, please visit https://sgsfoundation.org/fundraise-for-us/

#SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #PatientGroup #RareDiseaseCharity #NeuroendothelialTumours #RareDiseaseCharity #SGSAwarenessDay

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Nov 12

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💜SGS Research🧬

Schinzel Giedion Syndrome is an ultra rare disease and more research is needed into how the SETBP1 gene mutation affects brain development.

The Schinzel-Giedion Syndrome Foundation is seeking to establish a number of important research projects which  will facilitate research into SGS with the aim of finding treatments and therapies which could  help to improve the lives of children living with SGS.

#SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #PatientGroup #RareDiseaseCharity #NeuroendothelialTumours

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Nov 12

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What is the Schinzel-Giedion Syndrome Foundation ?

#SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #PatientGroup #RareDiseaseCharity #NeuroendothelialTumours

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Nov 12

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Our children suffer from a range of symptoms depending on the exact mutation of the SETBP1 gene.  Symptoms can range from severe to mild with those children diagnosed with the “typical” SGS having an average lifespan of just 18-48 months.

Schinzel-Giedion Syndrome Foundation 
#SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #NeuroendothelialTumours

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Nov 12

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In relation with our 2nd Awareness Day tomorrow November 13th we have made a little explanation about what causes Schinzel-Giedion Syndrome? Here’s the genetics explained 🧬
 
Schinzel-Giedion Syndrome Foundation 
#SGS #TuesdayTakeover #RareDisease #SchinzelGiedionSyndrome #Rare #Epilepsy #BilateralTalipes #SacralTumour #Reflux #DevelopmentalDelay #Awareness #AwarenessRaising #RareDiseaseAwareness #ChildhoodIllness #SchinzelGiedion #SGSFoundation #VisualImpairment #HearingImpairment #Chromosome18 #SETBP1 #Alacrima #Microcephaly #Hypotonia #NeuroendothelialTumours #Genetics101 #GeneticsExplained

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Nov 12

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💜 SGS Awareness Day 2021 - Top Tip 2 💜
 
Raise awareness in school 📚

Send some information on SGS to your children’s school and ask the teachers to share it with the students.  You can share a link to the SGS Foundation’s website.  It’s so important that communities understand rare disease and children are taught to appreciate and accept children with complex disabilities.

#sgsawarenessday ​#raredisease #schinzelgiedionsyndrome #rarediseaseawareness #setbp1 #epilepsy

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Nov 12

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Our big 2nd Awareness Day is!tomorrow!! Want to be a part of the celebrations? We have a few tips for you today 💜💜💜

SGS Awareness Day 2021 - Top Tip 1
 
​Let your SGS child shine on Saturday.
 
​Share your Shine for SGS photo frame on your social media with the #sgsawarenessday ​#raredisease #schinzelgiedionsyndrome #rarediseaseawareness #setbp1 #epilepsy

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Nov 1

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💜 SGS Awareness Day - Shine for SGS 💜
 
The SGS Foundation invites all families who have a connection to a child with Schinzel Giedion Syndrome to SHINE FOR SGS on Saturday 13 November 2021 - the official SGS Awareness Day.
 
Light a candle on our special day and remember or think about SGS children and their families around the world. 
 
Share a photo of your candle on social media with the #sgsawarenessday
 
Spread your candlelight around the world and be part of our global SGS community.
 
Encourage donations to our charity to fund important research into SGS which will help to find better medical treatments to improve the lives of children living with SGS #schinzelgiedionsyndrome #sgs #raredisease #rare

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Oct 4

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The SGS Foundation is reliant upon donations and fundraising to fund advancements in medical research. Over the next couple of weeks, we will share tips on how to create your own fundraisers and how you can donate 💜

Go to sgsfoundation.com and click the donate button ⭐️ #schinzelgiedionsyndrome #raredisease #fundraise #donations #sgsfoundation

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Oct 3

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During the month of July many families around the UK came together to show their support for Jude, the youngest son of SGS Foundation Secretary and Trustee, Emma Hudson.  Jude was diagnosed with SGS at 3 months.  He has many symptoms of SGS including bilateral talipes, hydro-nephrosis, severe reflux, epilepsy and developmental delays.  At 4 months old, Jude was diagnosed with a malignant sacral tumour and underwent extensive surgery to try to remove this. Jude reached the huge milestone of 3 years old in July and to celebrate, Jude’s mum decided to undertake the “July For Jude” challenge which was to run 1 mile every single day in July.
 
Emma set up a “Just Giving” page to receive donations for her challenge and was quickly joined by friends and family who were also keen to commit to undertake the challenge of moving for 1 mile per day.  A total of 18 team members created their own Just Giving pages and linked in as team members in the “July For Jude” challenge.  The team members were based all over the UK and pledged to complete the challenge in a variety of ways from running, dog walking, cycling or swimming.  Jude’s uncle even undertook a triathlon for the challenge!  Team members ranged from grandparents to school children with the youngest being just 3 years old.  Everyone moved in any way they could and throughout the heat of July, each team member showed up every day for Jude.  Their unrelenting commitment reflected the huge responsibility a parent must undertake every day when caring for a seriously disabled child with SGS.
A total of £4,587 was raised through the network of team members with donations from over 220 supporters.  The challenge received huge support from the local village where Jude and his family live, Ackworth near Wakefield, West Yorkshire, with significant kind donations received from Card Factory, Oliver’s Army and the Helen Mary McCosh Charitable Trust, as well as a feature in the Ackworth Howard School newsletter.
There is an African proverb which says that “it takes a village to raise a child”. The “July For Jude” fundraising challenge showed that Ackworth village was certainly able to raise some funds for an SGS child!

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Sep 27

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What is the SGS Registry?
The Registry is the first ever global database of SGS children. Parents and carers of children with SGS from around the world can enrol online. Once enrolled, medical data is collected, de-identified to protect patient confidentiality and entered into a database. We hope that the registry will provide insights about SGS and possible treatments so that medical care of SGS patients will be improved in the future.

If you have any questions about the registry or how to register your child diagnosed with SGS, please email contact@sgsfoundation.org #schinzelgiedionsyndrome #sgs #raredisease

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Sep 18

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❗️The Schinzel-Giedion Syndrome Foundation needs your help❗️

Please join our Global SGS Registry for Schinzel-Giedion Syndrome Foundation.

The Registry is a secure database where you can share medical information about your child diagnosed with Schinzel-Giedion Syndrome.

This information is important, because we hope that the registry will provide insights about Schinzel-Giedion and possible treatments so that medical care of SGS patients will be improved in the future. 

Register your interest here:
https://forms.gle/FZN1H8H13ignTTGt5

If you have any questions about the registry, please email contact@sgsfoundation.org #schinzelgiedionsyndrome #sgs #patientregistry #raredisease

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Sep 14

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Name: Emma Hudson
Role in the SGS Foundation: Secretary Location: Wakefield, England. 
SGS Connection: My son, Jude, was diagnosed with SGS when he was just 3 months old. It was a difficult journey to get to a diagnosis for Jude and the uncertainty and fear around that time are still raw emotions now. I was desperate for information about SGS and even more keen to connect with families and see other children with the condition. Finding the SGS Facebook group was an important moment for me. Through the support of the group, I have grown to accept Jude’s condition and feel so much more empowered and confident caring for him.
SGS Mission: Before I had Jude, I was a solicitor, specialising in medical negligence. I always wanted to understand more about my clients’ conditions and this thirst and aptitude for medical knowledge serves me well as a parent of a child with SGS! I want all carers of SGS children to understand the condition better. SGS is a very complex condition and the sheer volume of appointments, treatments and medications can be overwhelming for parents and medical professionals alike. I think we need to focus in on the key aspects of the condition which have the biggest impact on our children’s quality of life, such as epilepsy and reflux issues. We need research into better drugs and more appropriate treatment regimes. Parents need to be empowered to ask for the best evidence-based solutions for their children.
Trustee Tattle:
The advice I would give myself as the parent of a newly-diagnosed SGS child:
This might feel big and scary and overwhelming but have faith in yourself, because you know your child better than anyone. Trust your instincts and don’t be afraid to research and ask as many questions as you need. You can do this and you are the best person to care for your child.
My favourite movie is:
Top Gun and I can’t wait for the new sequel!
My secret talent is:
I can juggle really well - metaphorically and literally!

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Sep 12

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We have another important birthday to celebrate! 💜 Unfortunately we can not add beautiful Scarlet to the original post with the other kiddos, so she’ll get a post on her own 💜 Happy birthday! #sgs #schinzelgiedionsyndrome #raredisease

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Sep 12

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September means new birthday celebrations 💜🕯🥳 
A big happy birthday to Aaron, Mattis, Gael and Gregorio and all other Schinzel-Giedion kids celebrating their birthdays in September. Both in Heaven and on earth ❤️ #schinzelgiedionsyndrome #sgs #raredisease #birthday

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Sep 10

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We can’t wait! Only 64 days until our second Awareness Day! 💜 We have something really exciting ready for the big day. More information to come ⏳ #schinzelgiedion #sgsfoundation #raredisease #awarenessday

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Jul 29

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Show your support and help raise awareness 💜

We have just launched a lot of new Schinzel-Giedion merchandise through Bonfire. For each item you buy, you support the work of The Schinzel-Giedion Foundation.

… and also Bonfire ships internationally 🌎 Go to bonfire.com and search Schinzel-Giedion.

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Jul 27

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Thank you to @niceandiced2020 for these fabulous biscuits for our “July For Jude” fundraiser. They are stunning and tasted delicious. A wonderful treat for the hard working team members 💜

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Jul 27

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"July For Jude" is a fundraiser run by one of our SGS families over the month of July to celebrate the 3rd birthday of their son, Jude.  Jude's family and friends have taken up the challenge to run/walk/swim/cycle for 1 mile every day of July, receiving sponsorship for their efforts through the SGS Foundation Just Giving page.

The team has shown huge determination and has battled through broken bones, extreme heat and busy work and school schedules. Team members have run, cycled, walked and rowed through the month, with one team member even completing a triathlon!

The SGS Foundation is hugely grateful for the efforts and every single donation.  All money raised will be used by the SGS Foundation to fund research into better treatments to improve the quality and length of life of children living with SGS.

The last few days of July will be the hardest for team "July For Jude" so if you would like to help them over the finish line, please donate via the Just Giving page:

https://www.justgiving.com/fundraising/JulyforJude

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Mar 29

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Especially for all of our incredible SGS children and their parents #schinzelgiedionsyndrome #sgs  Photo credit Charlie Mackesy

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Feb 28

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The SGS Foundation celebrates Rare Disease Day 2021! We celebrate our children and everything about them. Head over to our website www.sgsfoundation.org to make a donation to the SGS Foundation today to help to support our families and fund research into SGS. #rarediseaseday #schinzelgiedionsyndrome

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Feb 26

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This Rare Disease Day the SGS Foundation celebrates our children and all that they can do #rarediseaseday2021 #schinzelgiedionsyndrome #rarerevolutionmagazine

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Feb 8

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SGS children have visual and hearing impairments, severe developmental delays and limited mobility. Sensory play therapy is an important way to help our children explore the world around them. This is Jude enjoying some lights and textures at home. #sgs #schinzelgiedionsyndrome #raredisease

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Jan 27

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We have some AMAZING news to share with you all! 

An international collaboration of researchers in North America and Europe have been awarded over €2Million ($2.5Million) in grant funding to develop new treatments for Schinzel-Giedion Syndrome. 

Read more on our website. We hope you will agree that this is a FANTASTIC way to start 2021 and brings new hope of a much brighter future for our amazing children.

#sgsfoundation #schinzelgiedionsyndrome #rareepilepsy #raredisease 
https://sgsfoundation.org/schinzel-giedion-syndrome.../

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Jan 14

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Check out Rare Revolution Magazine - Revolutionaries Community  newest Edition that launched today featuring a spotlight article about our Foundation's 1st birthday and awareness campaign. It was written by our very own, Emma Hudson!
#rarerevolutionmagazine #raredisease #schinzelgiedionsyndrome

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Dec 22

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The SGS Foundation newsletter is ready for your inbox now! Please visit our website to sign up to receive the newsletter and stay up to date with our fundraising and important medical research news. #sgsfoundation #schinzelgiedionsyndrome

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Dec 21

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The SGS Foundation would be so happy if you would like to participate in our Christmas card amnesty this year. 

Instead of sending a paper card, please make a donation to the SGS Foundation via our website and download the graphic below to email, text or WhatsApp to your family and friends. 

You’ll be helping the environment and also funding vital research into SGS whilst spreading awareness of our beautiful children. 

Any amount of donation will be gratefully received. 

Wishing you all a very merry and safe Christmas.  #schinzelgiedionsyndrome #raredisease #sgsfoundation

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Nov 13

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Today is the day! Show us your purple Schinzel-Giedion pride and share your pictures on this post. Don’t forget to tag us in your photos today! Pictured below are the families of the Foundation’s board of trustees spreading awareness with our communities. Let’s share our hearts and children with the world in an effort to improve the lives of all families living with SGS.

#schinzelgiedionsyndrome #raredisease #sgsawarenessday #sgsfoundation

Copyright of The Schinzel-Giedion Syndrome Foundation 2020. All rights reserved. The Schinzel-Giedion Syndrome Foundation is a UK registered charity, number 1186327.

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Nov 13

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Please join us in wishing our November Schinzel-Giedion kiddos a very happy birthday, both on earth and beyond. 💜🥳
#schinzelgiedionsyndrome #raredisease #sgsawarenessday #sgsfoundation

Copyright of The Schinzel-Giedion Syndrome Foundation 2020. All rights reserved. The Schinzel-Giedion Syndrome Foundation is a UK registered charity, number 1186327.

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Nov 13

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We are pleased to have become a Charity Partner with Rare Revolution Magazine, who do an amazing job giving a voice to patients affected by RARE conditions and the charities that represent and support them. #schinzelgiedionsyndrome #sgsawarenessday #rarerevolutionmagazine

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Nov 13

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After much excited anticipation, the countdown has finished and today is November 13th, International Schinzel-Giedion Syndrome Awareness Day!!

This is a very important day for all children and their families around the world living with this rare genetic disorder. We will be wearing purple to raise awareness and show our support.

It is also the first birthday of The Schinzel-Giedion Syndrome Foundation, our patient advocacy organisation and charity, which was formed 1 year ago today to represent and support all children with SGS and their families. 

Our charity is run by an international group of parent volunteers and 100% of our fundraising will go towards our mission of raising awareness and supporting vital medical research to help our special children lead longer, healthier and happier lives.

So please join us today and help us celebrate wherever you are, all around the world. We will be sharing posts throughout the day to celebrate our amazing children and families and we will continue our fundraiser. With your help, we have raised $2000 so far which is incredible! A huge thank you to everyone who has donated to help us get this close to our goal of $2500. Please consider supporting us with a donation if you can, but above all just help us CELEBRATE!! 💜💜💜

#sgs #sgsawarenessday #sgsfoundation #schinzelgiedionsyndrome #raredisease #careaboutrare

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Nov 13

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Today is International Schinzel-Giedion Syndrome Awareness Day and the first birthday of Schinzel-Giedion Syndrome Foundation. Help us CELEBRATE!!
 #sgs #schinzelgiedionsyndrome #raredisease #sgsawarenessday #sgsfoundation #careaboutrare

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Nov 12

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Tomorrow is the big day!  Please help us raise awareness by wearing purple and make sure to tag us in your pictures!

Schinzel-Giedion Syndrome Foundation is an International Foundation.  We have a SGS community made up of people from all over the world.  We lean on each other for help and strength.  Even when translations don’t work, we all know that each person is there to lend support and love. 

Our challenge today is for each person that sees this post to share it with 13 people.  We would love to spread awareness to all parts of the world.  Please comment on our post and let us know where in the world you are! Our worldwide SGS family is growing with each one of you.  Thank you for being a part of our community and supporting us!

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 12

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We are nearing the end of our fundraiser.  Today is day 11. 

Regardless of all the challenges that SGS children deal with on a daily basis, they try to communicate happiness with those around them!  Many SGS children struggle to communicate their feelings with family and friends, but when they express joy, those smiles are priceless.  Please consider donating to help us create more smiles. *Pictured - Ophelia, Ava, Sofia, Jude, and Shayen

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 10

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Our 10th day will focus on oncology research.

A characteristic of some of the SETBP1 gene mutations which cause SGS, is unfortunately a-higher-than-normal prevalence of malignant tumours (cancer). There is little known about this characteristic of SGS and further research is urgently needed.  Children seem to be most likely to develop tumours in the sacral and abdominal area (around the base of the spine) which are usually difficult to remove and can spread quickly. 
For children with SGS and their families, who already have so much to cope with, a diagnosis of cancer can be devastating. 
Further research is needed into the link between the SETBP1 gene mutation and the development of cancer so that those children affected can have access to the most effective treatment and be given a fighting chance at not just surviving, but thriving. Please consider donating to help us give them this chance. *Pictured - Jude after tumor removal

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 9

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Day 9 of our SGS Awareness Fundraiser is here.

One of the goals of the SGS Foundation is to create an international patient registry. The goal of the registry is to collect anonymized data about the symptoms, hospital tests and investigations and the daily medications taken by children with SGS, so that researchers can discover patterns and clues that may help doctors better understand how to treat and maybe even cure SGS in the future. This will allow families and doctors to find effective treatments more quickly for SGS children.  Please consider donating to help us advance our worldwide registry efforts. *Pictured - Sadie, Jude, and Scarlet

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 8

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We are a week into our Awareness Day Fundraiser!  Thank you to all that have donated and shared our posts.

Schinzel -Giedion Syndrome is a very rare genetic disorder arising from mutations in the SETBP1 gene. This plays an important role in the development of our children.  More research is needed to fully understand the function of this important gene and the protein it produces. Learn more about how this gene causes SGS on our website. https://sgsfoundation.org/about-sgs/ Please consider donating to help SGS families gain a better understanding of the SETBP1 gene. *Pictured - Sadie with some cute researchers

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 7

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Day 7 of our SGS Awareness Fundraiser.  Don't forget to plan your purple for Friday, November 13th to spread awareness for Schinzel-Giedion Syndrome. 

Today, we are honoring siblings of our SGS kids.  These siblings sacrifice time and parent attention.  They do this with compassion and love for their sibling.  They learn things that most adults don’t have to learn.  Many parents spend time away at doctor’s appointments and hospital stays.  The Foundation would like to give these amazing kids time back with their SGS sibling and parents.  Through research, we can find treatments that will keep SGS children at home.  Please consider donating to help our families stay at home together where they should be. *Pictured - Jude, Shayen, Emma, Sadie, Scarlet, and Avery all with their wonderful siblings

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 6

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We are halfway through our 13 days now. We made our original fundraising goal quickly, so we decided to challenge ourselves by doubling our goal to $2,000.

Schinzel-Giedion Syndrome children need adaptable equipment to meet physical milestones.  These standers, chairs, seats, etc. are very expensive.  Insurance companies will help pay for the equipment with a qualifying syndrome.  SGS is a rare and unknown syndrome to insurance companies. A goal of the SGS Foundation is to help medical insurance companies recognize SGS as a condition that qualifies for these adaptive devices.  Please consider donating to our cause and help SGS children move more freely! 

*Pictured - Ava, Tucker, Gar, Scarlet, and Emma #sgsfoundation #schinzelgiedionsyndrome #sgsawarenessday

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Nov 5

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Day 5 of our SGS Awareness Day Fundraiser and we are overwhelmed by the outpouring of generosity.  Thank you to all that have participated in our fundraiser.  We still have 8 more days so please share our posts with others.  Our total donations so far are $1,248.00!  Thank you so much. 

Seizures are part of everyday life for a child with Schinzel-Giedion Syndrome.  Families spend hours, days and years trying to manage and minimize these seizures and their effects.  Seizures can inhibit the progress SGS children are making in their physical and educational goals.  Seizures leave children uncomfortable and exhausted.
The SGS Foundation is committed to finding better treatments to improve SGS children’s quality of life. Please consider donating to help us with this research. 

*Pictured - Ava, Scarlet, Ophelia, Tucker, and Serenity

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 4

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We are so thankful to all those that have donated to us over the past three days.  We already have $419 in donations.  Thank you!

Today, is day four of Awareness Day Fundraiser.  Our Awareness Day will be on Friday, November 13th and we hope that you will all wear purple to show that you are aware!

When children with Schinzel-Giedion Syndrome are born, many of them are a mystery to medical personnel.  Some children wait years to find out a diagnosis. This unknown is hard on everyone.  Medical decisions are made by trial and error and parents watch their children suffer because of it.  The SGS Foundation is committed to getting rapid genetic diagnosis for children and families affected by this syndrome. 

Please consider donating to our Foundation as we celebrate our one year birthday. The donations made will help arm families with knowledge. 

*Pictured - Jude with "Dr Fraser"

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 4

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Day 3 of our Awareness Day Fundraiser is here and we are so thankful for the donations that have come in! Our Running Awareness Day Fundraiser total is $179.00!

The Schinzel-Giedion Syndrome Foundation Mission Statement states that we want to provide support to families worldwide. 
In order to support those families, we need to connect with them.  And in order to connect with them, we need to have a platform for them to do so.  We are working hard to create that platform.  Our SGS community needs to connect with each other.  They need to know they are NOT alone. 
Please consider donating to help us connect families.  Any amount helps!

#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 4

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One day closer to our one year birthday and SGS Awareness Day! Birthdays for a child with Schinzel-Giedion Syndrome are a special occasion.  Parents of children with SGS never know if they will get to celebrate another year with that child. We want to give hope to families affected by this syndrome by creating awareness and continuing our research. 
Please consider donating any amount to spread hope to our SGS family worldwide. *Pictured - Avery 
#schinzelgiedionsyndrome #sgsawarenessday #sgsfoundation

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Nov 4

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We are excited to announce the launch of the very first SGS Awareness Day which will take place on 13 November 2020, which just happens to be our first birthday! Information on events to follow.....#sgs #schinzelgiedionsyndrome #raredisease

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Oct 4

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Today is the Virtual London Marathon! Our amazing fundraising volunteers Maria and Daren and #TeamOphelia are running 26.2 miles for The Schinzel-Giedion Syndrome Foundation today to help us raise vital funds to support life changing epilepsy research.

Daren is a seasoned marathon runner and has set off this morning in the wind and rain with another member of #TeamOphelia to do the 26.2 miles in one go.

Maria started just after midnight this morning in the dark, wind and rain (!) and completed the first 12 km of the run. After a few hours rest, she has now set off again this morning to do the next long stretch, supported by several members of #TeamOphelia.

They are amazing individuals who care deeply about SGS and helping our children live longer, healthier and happier lives.

If you would like to donate to their fundraising page for SGS, the link is here. Every donation will make a real difference.

https://www.justgiving.com/fundraising/daren-leonard1

#londonmarathon2020 #schinzelgiedionsyndrome

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Sep 29

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