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.

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.

Did you miss the first ever SGS Virtual Family Conference on August 12-14^th2022?

Catch up on all the recorded sessions here!

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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Aug 12

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

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

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

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

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

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

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

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

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

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

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

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

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

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Dec 30

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

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

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

“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

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

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

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

“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

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

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

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

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

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

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

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

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

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

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

💜🔮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

💜 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

💜🕯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

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

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

💜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

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

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

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

💜 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

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

💜 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

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

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

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

❗️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

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

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

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

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

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

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

"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

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

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Feb 28

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Visit the SGS Foundation website and sign up for our newsletter to receive updates on SGS and the Foundation 💜 www.sgsfoundation.org #schinzelgiedionsyndrome

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Sep 22

Further information slides from @medics4rarediseases #schinzelgiedionsyndrome #raredisease

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Sep 22

@medics4rarediseases featured Schinzel-Giedion Syndrome as their rare disease this week. Check out their information video. #schinzelgiedionsyndrome #rarediseases

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Sep 22

#medics4rarediseases have featured Schinzel-Giedion Syndrome as their rare disease. Check out their informative short video and share to raise awareness of SGS. #schinzelgiedionsyndrome #raredisease

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Feb 29

Today, on Rare Disease Day 2020, as fellow parents and carers of children with SGS, please consider making a donation to The Schinzel-Giedion Syndrome Foundation to help fund life-changing medical research to discover new therapies to help our amazing children lead longer and healthier lives. Our Foundation exists to help all of our special children, but to do this we need your help too!
Visit our Foundation's website and fill in our contact form so we can keep you up to date with all our exciting progress. Our new website will be launching soon! www.sgsfoundation.org #raredisease #rarediseaseday #rarediseaseawareness #schinzelgiedionsyndrome

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Feb 29

Today is Rare Disease Day 2020 – the day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives and their families. The Schinzel-Giedion Syndrome Foundation is part of the rare disease community and we want to share the message that:
Rare is many. Rare is strong. Rare is proud.
Even the smallest actions count! You can share your story of Schinzel-Giedion Syndrome with your families, friends and connections. Tell them about Schinzel-Giedion Syndrome and the impact of this rare disease on your child. By raising awareness of rare diseases such as Schinzel-Giedion Syndrome, you can encourage individuals and organisations to make donations to charities such as the Schinzel-Giedion Syndrome Foundation. These donations are directly used to fund valuable medical research and disease models which aim to reduce the impact of the most distressing symptoms of Schinzel-Giedion Syndrome. The Schinzel-Giedion Syndrome Foundation needs the help of the Schinzel-Giedion Syndrome community to progress these medical research projects. Without your support, nothing will change for our children and for those diagnosed with Schinzel-Giedion Syndrome in the future.
Donations can now be made via Pay Pal to contact@sgsfoundation.org.
Copyright of The Schinzel-Giedion Syndrome Foundation 2020. All rights reserved.
The Schinzel-Giedion Syndrome Foundation is a UK registered charity, number 1186327.
#rarediseaseday2020
#rarediseaseawareness
#schinzelgiedionsyndrome

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Feb 15

Being an SGS parent can be incredibly hard. Always be kind to yourself. You’re doing the very best you can. #schinzelgiedionsyndrome #sgs #rarediseaseawareness #raredisease #mentalhealth

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Feb 13

Children with Schinzel-Giedion Syndrome may struggle to take sufficient quantities of milk and food orally due to the complex neurological problems they experience with coordination, swallowing and reflux. For many parents, the prospect of their child having a feeding tube permanently placed can bring a range of emotions. The realisation that your child may not be able to eat in a “normal” way can be upsetting and the care of a feeding tube can initially seem daunting. Emma, mother to Jude (19 months old and who has SGS), has shared her experiences this week, which is Feeding Tube Awareness Week across the globe: “Jude struggled to take sufficient quantities of milk from a bottle. The first weeks of his life were spent in the neo natal unit desperately trying to persuade him to feed. It was a hugely stressful time for us all. Once he was home, his (and our) struggle continued. He would take a few sucks from the bottle, pull away and then scream. It was like he wanted the milk but he just couldn’t figure out how to get it. We tried all sorts of bottles and teats and sought advice on tongue-tie and feeding techniques, but nothing seemed to help Jude.

It wasn’t until Jude was admitted to hospital with seizures at 8 weeks old, that his feeding problems were properly addressed and a nasal-gastric feeding tube was first placed. This was later replaced with a gastrostomy (tube directly into the stomach) and eventually a jejunostomy (tube directly into the bowel). Initially we were devastated that Jude needed a feeding tube. It felt like we had failed at even doing the most basic of parenting skills – feeding our baby. Once Jude’s diagnosis of SGS was made, however, we quickly realised that it was very unlikely that Jude’s nutritional needs would ever be met without a feeding tube. It was a relief to know that Jude could be fed without the stressful hours desperately trying to help him take milk from a bottle.” The Schinzel-Giedion Syndrome Foundation wants to support all carers of children with SGS so that they feel confident making decisions about the complications associated with SGS, such as meeting nutritional needs. #feedingtubeawarenessweek2020 #feedingtube

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Jan 19

As carers of children with Schinzel-Giedion Syndrome, we have to take on many roles – from nurse to teacher to advocate to comforter, switching between each role in an instant. It is often said that it takes a community to raise a child and this week, Scarlet’s family share how their extended team of medical professionals and carers assisted them with caring for Scarlet throughout her life: “From early on, our care team grew at a steady pace. Meeting hospital and clinic professionals and home care staff, and then familiarizing them with our daughter and her needs became a constant practice - and one I became quite skilled at. Interacting with the medical community on a very regular basis became a staple in our lives.
A successful relationship with Scarlet’s care team was only possible with effective and respectful communication from all parties. We learned quickly that although the medical professionals were the experts in science, we were the experts on our daughter.
During those years we formed many close bonds with nurses, physicians and therapists of all kinds. Those who came into Scarlet’s life and stayed were those who invested time into learning her subtle ways of communicating what she needed. Since so many of her senses were dulled, touch became her strongest sense and she was very responsive to it. Nurses, physicians, educators and family that figured this out quickly became her favorites and once she had them, they were wrapped around her finger and they rarely left.

Over Scarlet's 7 1/2 years many of the caregivers we worked with became family. Their love for our daughter was evident in all they did. From the fine details of painting her nails, a Scarlet trademark, to outstanding physician care, to being my army of back up brains in keeping track of Scarlet's ever-changing needs. We will not forget the long hours, the middle of the night emergency care, picking up last minute shifts, and getting us what we needed because "it was Scarlet and she just deserved that." These people, and so many more, will always be some of the most precious to our hearts." #schinzelgiedionsyndrome #childofthemonth #raredisease #fundraising

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Jan 13

The Schinzel-Giedion Syndrome Foundation is working hard to raise vital funds to support the final stage of disease model development for Schinzel-Giedion Syndrome (SGS). SGS children experience severe and frequent seizures, intellectual and developmental delay and kidney complications as prominent features. Most children born with SGS will have an average lifespan of 18-48 months.
The SGS disease models that our fundraising will help to develop, are critical to identifying and evaluating potential therapies that may improve the quality and length of life of our precious children. Our immediate focus is on alleviating the seizure burden for SGS children, as there are no medical or surgical therapies currently available that effectively control seizures in SGS.
We invite you to participate in this life-altering mission by making a donation to The Schinzel-Giedion Syndrome Foundation. Every single donation, whatever the amount, will be very gratefully received and will help improve the lives of children around the world living with SGS and the families that love and care for them.
Please consider making a donation to support this vitally important effort.
Matthew Burkhardt
Chair of the Scientific and Medical Advisory Board for The Schinzel-Giedion Syndrome Foundation. #medicalmonday #schinzelgiedionsyndrome #rarediseaseawareness #epilepsyawareness #seizures

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Jan 12

As part of our “Child of the Month” feature, Scarlet’s family have kindly shared with us more details of a particular aspect of Schinzel-Gideion Syndrome. One of the major characteristics of SGS is kidney disease and urinary tract infections. For Scarlet, this was a lifetime battle that caused her much distress and many interventions. Scarlet’s mum, Jenny, explains further: “At birth Scarlet’s kidneys were not functioning well and an attempt was made to place a stent into the ureter (drainage tube from the kidney to the bladder) but at a mere week old, the task was too difficult. A temporary tube was placed in her right kidney to drain outside of her body to alleviate pressure and help ease its burden. This attempt was the beginning of a long road of drainage issues and repeated infections.

At around six months old a routine ultrasound revealed Scarlet’s right kidney had doubled in size. She was again put under anaesthetic and underwent a pyelostomy (the insertion of a catheter to drain the kidney directly, by-passing the ureter). When Scarlet was two years old she began to suffer from severe and recurrent UTIs. This prompted urology testing, which revealed a neurogenic bladder. We understood this to mean that Scarlet's brain, most likely due to deterioration, could not control the two sphincters necessary to allow the release of urine. From that point on Scarlet was catheterized multiple times per day for the rest of her life.

Unfortunately, the severe UTIs came back a couple years after we closed her pyelostomy and the frequency of catheterizing was increased. A further pyelostomy was attempted but was unsuccessful and so the only option was a permanent catheter for Scarlet. By this time her overall health had deteriorated significantly and she was receiving care from a hospice.

One short month later Scarlet would pass away peacefully in her bed with Tom and I holding her. One of our greatest hopes for the Schinzel-Giedion Syndrome Foundation is that we can work together with our medical advisory board to find better treatments and improve outcomes for all kids living with SGS. #schinzelgiedionsyndrome #childofthemonth #raredisease

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Jan 10

Welcome to the first “Fundraising Friday” for the Schinzel-Giedion Syndrome Foundation! Today we are sharing a special story about our child of the month, Scarlet.
Scarlet’s mother, Jenny, has shared with us Scarlet’s experience of kindergarten:
“Our story begins in kindergarten where Scarlet met her best friend, Josie. Friendship was something we feared Scarlet would never have, at least not in the way other kids did. Sending her off to school was scary - wondering if she would be left behind, a mere shadow in the background.
That fear quickly subsided when Scarlet began attending an amazing school, with endlessly compassionate teachers and the most generous and caring students. The children in her class would crowd around her. Each of them knew the hand washing protocol before touching Scarlet very well. It was during this wonderful year that Scarlet and Josie became best friends. Josie was never far from Scarlet’s side.
Scarlet was invited to attend Josie's 6th birthday party. It would be the first and last friends’ birthday party she ever attended. It was such a special moment for all of us including Scarlet. That invitation filled so many wounds in our hearts and continues to do so each time we reflect on it.
Last Christmas, Amy, Josie's awesome mama, reached out to see if they could donate to a charity which would help children with Schinzel-Giedion Syndrome. They wanted to do this in Scarlet's honor. At that stage the SGS Foundation had not yet been set up but I promised both Josie and Amy that I would hold onto their donation until the SGS Foundation was fully established.
I am honored to be able to pass on Amy and Josie’s donation to the SGS Foundation. They are the charities first official donors and Scarlet’s one in a million best friend.”
#fundraisingfriday #schinzelgiedionsyndrome #childofthemonth #raredisease

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Jan 10

Scarlet’s family are the first to share their story with us: Our journey began 20 weeks into my pregnancy. Abnormalities were noted from the first ultrasound. After 24 hours of labor Scarlet was born on September 2nd, 2009 in Minnesota, USA. When she arrived, we were given a moment to see her and take a picture before she was rushed away to the neonatal intensive care unit.
The next few months of Scarlet’s life were full of fear and confusion. Symptom after symptom began to appear. No one had any idea what she had, and the list of specialists grew rapidly.
It continued this way for 3 ½ years with many health crises nearly ending her life, but no answers. Finally, after a lucky guess, we got the diagnosis of Schinzel-Giedion syndrome, and were given the devastating life expectancy of 2 ½ years.
By the time we received a diagnosis, we had over a dozen specialists, homecare nursing for 16 hours per day, and 4 hospitals, which we traveled between. Scarlet was deaf and severely visually impaired, she did not produce tears which caused corneal damage, suffered from seizures, dystonia, dysautonomia, respiratory distress, kidney disease, hypertonia, brittle bones, and no ability to move her own body except for stretching and very small movements.
As she grew and her health concerns continued to escalate, the list of daily procedures and medical interventions also grew. As a family our biggest concern, was the emotional well-being of us all. Fear often dictated our decisions and our ability to participate in the world. Finding balance was difficult, but over time we grew to accept our life, -though it was challenging, we were happy.
Scarlet passed away from a virus and a weakened immune system after a year and a half of receiving hospice care. She was 7 ½ years old. We were devastated to lose her.
We do not take for granted how lucky we were to have had 7 ½ years. We cherish our memories. I can’t imagine our lives without having had her in it. Scarlet changed all of us for the better. Unexpectedly, we discovered how to live each day, not like it is our last, but like we will all live forever. #schinzelgiedionsyndrome #childofthemonth #raredisease

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Jan 4

Each month the Schinzel-Giedion Syndrome Foundation will feature a story across social media on a different child and family who is living or has lived with Schinzel-Giedion Syndrome. We will share their story and a glimpse into what life is like for them. Stay tuned for our first featured family tomorrow. #schinzelgiedionsyndrome #childofthemonth #raredisease

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Jan 1

Happy New Year from the Schinzel-Giedion Syndrome Foundation. We are looking forward to connecting with all our SGS families in 2020. #newyear #letsgo #sgs

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