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The SGS Foundation is a Member of COMBINEDBrain

The Schinzel-Giedion Syndrome Foundation is a member of COMBINEDBrain

In January 2020 The Schinzel-Giedion Syndrome Foundation joined COMBINEDBrain, a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain’s mission is to speed clinical trial readiness for severe cognitive disorders by pooling resources and working together across all of our member disorders.

The Schinzel-Giedion Syndrome (SGS) Foundation is represented by Nuala Summerfield, Founder and Chair. The organisation’s mission is to provide support to families caring for a child with SGS, to raise awareness of SGS and to facilitate and support medical research that will help find better treatments to improve the quality and length of life of children living with SGS. The Schinzel-Giedion Syndrome Foundation is a volunteer, parent-led organisation and represents the international SGS community.

We are excited and honoured to be a member of COMBINEDBrain and to have the opportunity to work alongside so many other like-minded organisations, all focused on treating and curing ultra-rare neurodevelopmental disorders. Through this collaboration, we are able to share ideas, resources and contacts. We learn from and inspire each other and work together to find strategic partnerships. Most importantly, our membership in COMBINEDBrain helps spread much-needed awareness about Schinzel-Giedion Syndrome (SGS) and SETBP1 mutations and gives us access to biopharma companies that can help us achieve our goal of finding targeted treatments for children with SGS.

COMBINEDBrain was founded by Dr. Terry Jo Bichell, whose adult son has Angelman Syndrome. In 2009, Terry Jo decided to go back to school, earning her PhD in neuroscience in order to work towards finding a cure for her son. She created COMBINEDBrain in 2019 to share her experience with the next wave of rare diseases. She’s a force to be reckoned with in the rare disease community, and we are so grateful to have her as a mentor and friend.

The other members of CB that we are in collaboration with (in reverse alphabetical order) are:

Yellow Brick Road Project (HNRNPH2) is represented by Trish Flanagan, President. The YBRP connects families and drives research forward into HNRNPH2 mutations to improve these rare patients’ lives. This is a small but fiesty organization who are laser focused on getting to clinical trials, treatments and a cure for the rare X-linked HNRNPH2 related neurro-developmental disorder.

SynGAP Research Fund (SRF) is represented by Mike Graglia, Managing Director & co-founder. SRF’s mission is to support the research and development of treatments, therapies and support systems for SynGAP1 patients worldwide. SRF is entirely parent led and has committed over $1.2M to research since it was created, 100% of donations go directly to support research.

STXBP1 Foundation is represented by Charlene Son Rigby, President. The STXBP1 Foundation’s mission is to raise awareness of STXBP1 disorders, and to accelerate the development of therapies and hopefully a cure for our patients.

SLC6A1 Connect is represented by Amber Freed, CEO & Co-Founder. The mission of SLC6A1 Connect is to cure every person with SLC6A1.

SETBP1 Society is represented by Haley Oyler, President. Their mission is to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public. SETBP1 Society is an internationally-focused volunteer 501(c)(3) organization based in the US with a focus to identify targeted treatments to help individuals impacted by SETBP1 disorder.

SATB2 Gene Foundation is represented by Allison Kaczenski, President & Founder. The SATB2 Gene Foundation was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education.

Project 8p Foundation is led by Bina Maniar Shah, President & Founder. Project 8p Foundation is a 501(c)(3) non profit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today. Chromosome 8p is not just a rare genetic disease, but the many genes and pathways can be clues to common brain-related diseases.

Project Alive is represented by Kim Stephens, DBA, President Their mission is to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators.

PBD Project is represented by Andrew Longenecker, Founder. Their mission is to PBD Project is to fund medical research with the objective to provide meaningful positive clinical impact for patients with Peroxisome Biogenesis Disorders (PBD), with a focus on Zellweger Spectrum Disorder (ZSD) caused by mutations to PEX10 gene.

NR2F1 Foundation is represented by Carlie Monnier, Board President. The mission of the NR2F1 Foundation is to empower families and individuals living with rare NR2F1 mutations through education, awareness and research. As a result of joining forces with other foundations, we aim to be leaders in patient empowerment and patient-led research for the rare disease community at large ultimately serving as a model to other organizations.

Malan Syndrome Foundation is represented by Dr. Christal Delagrammatikas. The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach and research. The Malan Syndrome Foundation is a volunteer, parent-led organization.

KIF1A.ORG is represented by Kathryn Atchely, President. KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure. Our relentless community of families, researchers, clinicians, innovators and supporters are determined to bring treatment to this generation of people affected by KAND.

GRIN2B Foun d ation is represented by Liz Marfia Ash, President & Founder. GRIN2B Foundation is a parent-run organization dedicated to furthering research on the GRIN2B gene and providing support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis. Though GRIN2B Foundation was the first GRIN2B-related organization formed, we are very proud to work in collaboration with many other GRIN2B and GRIN Disorder organizations that have since formed worldwide.

Glut1 Deficiency Foundation is represented by Glenna Steele, Executive Director. The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research. We are working hard to bring help and hope to the Glut1 Deficiency community.

FOXG1 Research Foundation is represented by Nasha Fitter, CEO, Head of Research. The mission of the FOXG1 Research Foundation to accelerate research to find a cure for FOXG1 syndrome. We are dedicated to funding the world’s leading scientists that are integral along the Path to a Cure for all children with FOXG1 syndrome. We will continue to apply our research to solve related brain disorders.

Foundation for USP7 Related Diseases is represented by Bo Bigelow, Chairman/Co-Founder. Their mission is to cure Hao-Fountain Syndrome (previously known as USP7-related diseases). We do this by funding research and identifying more patients. In funding research, we seek to (1) uncover methods of activating USP7 to rescue this haploinsufficient phenotype; and (2) understand how alterations in proper functioning of endosomal protein recycling cause seizures and other neurological problems.

FamilieSCN2A Foundation is represented by Leah Schust Myers, Executive Director. Their vision is to find effective treatments and a cure for SCN2A related disorders. Their mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. FamilieSCN2A Foundation was created by parents of children suffering from SCN2A related disorders who work unwaveringly to support both families and research.

CureGPX4 is represented by Sanath Kumar Ramesh, Founder. The organization’s mission is to create treatments to Spondylometaphyseal Dysplasia Sedaghatian type (SSMD).

CureSHANK is represented by Geraldine Bliss, Founder and President. Their mission is to accelerate the development of treatments for Phelan-McDermid Syndrome and SHANK-related disorders. Their approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.

CureGRIN is represented by Keith McArthur, CEO and Head of Science. Their mission is to improve the lives of people living with GRIN Disorder. The foundation is founded and run by parents that are committed to improve the lives of people with GRIN disorder.

CHAMP1 Research Foundation is represented by Jeff D’Angelo, Founder, Research Committee Chair. Their mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

CACNA1A Foundation is represented by Lisa Manaster, President. Their mission is to increase awareness of CACNA1A variants, support individuals and families affected by CACNA1A, and raise funds to support research and treatment options to find a cure for CACNA1A.

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Carla’s Story

Carla’s Story

July 2021

It’s a girl! I was overjoyed when the doctor told me. We had two boys, 2 and 4 years old at that time, we so much wished to have a girl. That was in the 17th week of pregnancy. Everything seemed to be perfect, we had two healthy children, what could happen. We waived additional preventive medical checkups.

There were no abnormalities whatsoever- until the 30th week of pregnancy. During the next ultrasound, the doctor was unusually silent. I had a bad feeling and suddenly he said something was wrong. “Look at the kidneys, both very large, congested and cystic.” I also had far too much amniotic fluid. I felt sick. My gynecologist was always very honest and direct when I asked him what this could mean. A syndrome. Trisomy 18 maybe. He told me to go straight to the hospital for an amniocentesis. The doctor at the hospital was more optimistic. It does not have to be that bad, just wait. The results of the test took 10 days. I think those were the worst days of my life, knowing our daughter was going to be sick or even might not be able to survive.

The result was unremarkable. It took a load off my mind; the doctor was stumped. He was still sure she had a syndrome, but I wanted to finish the pregnancy more positively and hoped that everything would be ok. He sent me to another doctor, in hospital, a nephrologist who was supposed to have better equipment. I went there every week for an ultrasound.

Unfortunately, he also found abnormalities in the baby’s brain. “That doesn’t mean anything, but in the worst case she could be blind.” I was totally insecure. We would have to wait until she was born, we should not worry so much. Easy to say… I was especially scared this time before the birth. I thought maybe she would not make it because she was sick. There was talk of possible adjustment problems and we thought about a C-section. But the doctors advised against it, the adjustment problems could be even harder for her, she was estimated at 4 kg, she would make it. So, we waited.

6 days past the calculated date of birth, on 11.05.2018 was the day. We were in the hospital for a routine check when it started. After 7 hours of being in labour she was delivered with the help of a suction cup. The birth was extremely dramatic, her heartbeat was gone, and everything had to be done very quickly. I felt as if she was ripped out of my body. The room was full of people, doctors, nurses and midwives. They tried to help her, she did not make any noise and did not breathe. I shouted, “What’s happening to her?” After a while, a doctor said she was breathing and now she was going to the NICU for monitoring. “What shall be her name?” – ” Carla”, I said. They would not let me see her. Meanwhile the doctors took care of me, I had atony and lost a lot of blood.

2 hours later my husband was allowed to visit Carla, I asked him to take a picture. She was cute, our baby, but I also noticed that she looked somehow different. I was extremely tired and so glad that she survived the birth.

The next day they brought me to her in a wheelchair. I could hardly see anything of her little face. A cap with a breathing mask covered it. She also had a feeding tube for the milk. I was allowed to take her in my arms and fell in love immediately. She had her tiny hands clenched in fists. Her little toes were slightly above the other toes and her ears looked a little deep out of her cap. “All very obtrusive, she even has a special voice” the doctors said. A team of geneticists would look at her in the next few days. I could not breastfeed her and so I went every day and tried to bottle-feed her my milk, it was very difficult. She always had too little oxygen and had to be supported.

Carla’s brothers could see her after 3 days. They had so many questions, I hoped I would soon have an answer. After one week I was able to go home. Carla had to stay for another week, then she was stable that she was transferred to the children’s hospital.

When the boys were in kindergarten, I was at the hospital with Carla helping her to practice drinking. Carla learned fast but she still had to use the feeding tube for milk. She had some tests that confirmed what we knew. Bilateral hydronephrosis and underdeveloped corpus callosum. Her eyes and ears could not yet be examined properly. Each kidney had 50% function, and her blood levels were good. So, if she learned to drink, she may go home. Thanks to the help of the nurses, we managed to achieve this. She was finally able to go home after a total of 5 weeks.

After 3 weeks was the first suspicion of Schinzel-Giedion Syndrome. Even the doctors had not heard of it yet. They would test for it. We did not want too much information about this syndrome until the final tests were done. We wanted to wait and see if it was confirmed or not.

The day I picked her up, I was full of joy. Finally, I can take our baby home. The doctor asked if I was alone, or if I needed to be picked up. I was alone, my husband worked all day and could not come. She wanted to talk to me before I went home with Carla.

She had good news and bad news. The good news is we have a confirmed diagnosis of Schinzel-Giedion Syndrome. And they got it quickly, which is not easy, because it is an exceedingly rare disease. But it would have been worse not to have a diagnosis, not to know what is wrong with her. The bad news was the consequences of this diagnosis. She would not tell us earlier. The child has a life expectancy of about 2 years, will develop very slowly, sometimes hardly at all. I was shocked. I wondered: “What could be worse than this prognosis?” I was devastated, phoned my husband immediately and told him everything. I waited with Carla for a while until I calmed down and went home with her.

I did not want to believe it. This day, which was supposed to be so happy, turned into a sad day. I bathed Carla and while I was massaging her, I talked to my friends on the phone. “I love my daughter, we will enjoy the baby time, as normally as we possibly can.” I did not want to learn more about this syndrome for a while…

It was a nice first summer with her. Carla was physically very well at that time. We wanted to make the time she had as beautiful as possible. I avoided any idea that she might not be with us for long and started to have faith in her. She was so cheerful, always sweet, cried little and slept well at night. The sucking on the bottle got better and better and I was able to calm her down most of the time by cuddling and holding her hands.

We celebrated Carla’s christening that very summer, we were afraid that her condition might decline. Before we took her with us on our summer holiday, we had to have some tests done. Will she be able to come with us? After a short time, we no longer needed the feeding tube. It was tedious and took a long time, but Carla managed her daily milk rations. The nephrologist was also satisfied: – Nothing has changed. Carla’s blood values are fine, the kidneys are working well. She hardly needs any support, no oxygen, hardly any medication, just antibiotic prophylaxis.

The holiday was great, we were in the mountains and I was able to take Carla with her 4 kg everywhere. Our family and friends accept and integrate her as she is. A wonderful experience, everyone had her on their arms and was interested in her, that gave me incredible strength. At the end of the holiday she would start to regurgitate a lot, the milk came out of her nose. I was worried, but her condition improved again, and it only came in transients. She choked more often, but we learned to deal with it well.

Soon we noticed that she was having seizures, more and more often. Her sleep got worse and she became very restless in the evening. After an EEG, she was given medication for epilepsy. She had more and more mucus and had to inhale more often to cough up the mucus. She often had a rhinitis and could hardly breathe. I became more and more worried: – Does she need a feeding tube after all?

Up to then we had always refused to accept this. I am always so happy when she drinks, one can really see how she likes it. I started to learn about Schinzel-Giedion Syndrome. I wanted to help her as much as I could and felt very alone. Nobody really knew about it. It became more and more obvious over time that she was not really developing well. We suspected that she could not see at all or only poorly, she hardly reacts to sounds. She does not reach for things and is rather apathetic. She does not cry and she does not laugh.

I searched the internet and found a story about a girl, with beautiful pictures. I read it, I think, three times. It was the first time I saw pictures of a child with this syndrome, and they all look so similar. It was a story written by the family, not by doctors. Experiences and feelings of people who are going through it themselves, like we are. It helped me so much. I was impressed by the love and strength of this mother. I wanted to be strong too. I also wanted to be there for Carla. What good is it for my baby if I cry, if I surrender or if I am sad. I want her to feel that I love her and will always be here for her.

Shortly afterwards we had an appointment with a geneticist. We were to be tested and Carla was examined. The doctors were very interested in her and had never seen a child with this syndrome before. We did not really get answers to our questions, just statistics and tables were shown to us. We were given forecasts about her short life expectancy, her poor mental and physical development. As expected, our genetic test was without result. Carla’s genetic defect is a new mutation. The geneticist pointed out to us that there was a Facebook group. I was very curious and willing to meet more parents. I received a very warm welcome and was overwhelmed by the many testimonials and pictures. A great community and support, for which I am still infinitely grateful.

The list of drugs has become long now, and it has not always been easy to administer everything to her orally. She is given medication for constipation, for flatulence, two drugs for epilepsy – which we have better, but not completely under control yet – and a sleeping pill and sedative. Along with the increased number of seizures, her sleep was so disturbed that she could not sleep for weeks and cried hysterically at night. That was a hard time for us. My husband works during daytime. While the boys are in kindergarten and school, I often have appointments with Carla, or we spend time at home or with friends. My parents moved to live with us, my mother supports me a lot and now we also have a home help, which is partly financed. So, we get along well.

Carla is developing very slowly, but we do as much as possible to support her. We go to physiotherapy once a week, Carla likes that very much. She likes to be moved and loves to be massaged. Once a week she has early vision support, we play a lot with lights and sounds, to try out what she likes. Carla makes very little progress, but she usually seems relaxed, opens her hands, can turn her head and lift it slightly. If leaned back against support, she can sit for a short time. She cannot see well, but she follows bright and colorful lights with her eyes. She also has hearing aids, but unfortunately, she still does not respond well to sounds. That is why we focus on the sensory aspect. Cuddling, caressing, putting lotion on and bathing, she loves that. Sometimes she smiles for a short time. I know Carla well, she does not have much expression on her face, but I can see exactly when she feels good, has pain or is angry.

We try to avoid unnecessary procedures and tests; we do not want her to be tormented just to get another diagnosis that can’t be changed. We do whatever is necessary so that she can live without pain. Of course, we undertake all preventive and routine examinations. We have met such great people, great doctors and nurses who have impressed me very much and to whom we also like to come.

Carla is now 2 years old. She is almost blind and almost deaf; she will not be able to sit or walk. She will not speak. Sometimes I am sad when I see children her age playing and romping, I wish the same for her. But we have accepted that Carla’s world is different. It does not matter what she cannot do, it’s important that she is doing well and that she can enjoy the life she has. And she can do that, everyone loves her, our family, our friends and acquaintances, everyone accepts and integrates her. Everyone is very understanding and respectful towards her and towards us. I am incredibly grateful and proud that we have such a great family and friends who do not turn away but stand by us and are there for us. We love you; we thank you!

“Life’s a bed of roses”, that was my slogan in life. To regard everything as positive as possible. With Carla I had to learn painfully that life is not always bedded on roses. But I would like it to be – and so we now live together with Carla in our rose garden. And it is good the way it is. It was not easy to write about Carla, such feelings can hardly be put into words. I hope that Carla’s story will be going on for a long time to come.

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Nuala’s Story

Read about Nuala and Ophelia at Rare Disease UK

Nuala’s Story

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Schinzel-Giedion Syndrome Awarded € 2 000 000

Research grant of over 2 Million Euros ($2.5Million) offers new hope for children with rare condition Schinzel-Giedion Syndrome

Contact:
Nuala Summerfield
Mob: +44 (0)7957 168815
Email: nuala@sgsfoundation.org

January 27th 2021; Crawley, West Sussex, UK: Funding from two major European grants has been awarded to an international group of researchers to find treatments for the devastating rare genetic disease Schinzel-Giedion Syndrome (SGS)

The grants are the first major funding awarded for SGS research.

Nuala Summerfield, Founder and Chair of UK based patient group The Schinzel-Giedion Syndrome Foundation said: “My daughter Ophelia has Schinzel-Giedion Syndrome and has battled her entire short life with multiple daily seizures and many other severe health and developmental problems. There are no effective treatments currently available for SGS, so it is wonderful news that SGS is now receiving such commitment from the scientific community. Our patient advocacy group and our international SGS community will now have the unique opportunity to collaborate closely with these world class scientists to help them to develop new treatments for rare epilepsies.”

Dr Carl Ernst PhD, from The Douglas Research Centre, McGill University, Montreal said “We could not be happier to partner and collaborate with families affected by SGS to advance treatments for this disease. With this EU support, our international group of experts has the opportunity to drive science forward and hopefully reduce suffering in children with this neglected rare disease.”

The funding comes from the European Joint Programme on Rare Diseases (EJP RD), co-funded by the European Commission. The ‘TREAT-SGS’ project was selected from 173 eligible proposals and will receive 1.6 million Euros. The focus of the ‘TREAT-SGS’ project is the development and preclinical testing in human cell models and transgenic mice of novel treatments for Schinzel-Giedion Syndrome. It. The project is a collaboration between the UK based patient group The Schinzel-Giedion Syndrome Foundation and academic researchers in Canada, Italy, Sweden and Germany, facilitated by Dr Carl Ernst.

Dr Alessandro Sessa PhD, from the Stem Cell and Neurogenesis Unit at IRCCS Ospedale San Raffaele in Milan, who is co-collaborator in the EJP RD project, has also been awarded a grant from the Italian Ministry of Health to explore the molecular basis and pathophysiology of Schinzel-Giedion Syndrome for 450,000 Euros.

Of note, the germline SETBP1 mutations that cause SGS are identical to the somatic SETBP1 mutations found in select myeloid leukaemias which confer a more aggressive leukaemic phenotype and worse prognostic outcome. Importantly, this SGS research may therefore contribute further to our understanding of the role of SETBP1 in oncology and have a direct benefit of advancing rare cancer research.

Nuala Summerfield, Founder of The Schinzel-Giedion Syndrome Foundation with her daughter Ophelia

What is Schinzel-Giedion Syndrome?

Schinzel-Giedion Syndrome is an ultra-rare genetic disorder. Fewer than 100 children worldwide have been diagnosed with SGS but the true incidence is expected to be higher. SGS is caused by mutations in the SETBP1 gene, located on chromosome 18.

SETBP1 protein appears to play an important role in the developing embryo. Children with SGS have too much SETBP1 protein and this is thought to cause abnormal brain development, as well as gastrointestinal, urinary and respiratory tract problems, together with an increased risk of certain types of cancer.

Medically refractory epilepsy is a major health and quality-of-life issue for children born with SGS. Most children with SGS have severe uncontrollable seizures, which are often the reason why many will die before their 4th birthday.

About The Schinzel-Giedion Syndrome Foundation

The Schinzel-Giedion Syndrome Foundation is a registered UK charity (Number 1186327), established in 2019 by an international group of parents of children with Schinzel-Giedion Syndrome (SGS). The charity is supported by a Scientific and Medical Advisory Board (SMAB), including researchers at renowned institutions, medical geneticists, paediatric clinicians and industry-level therapeutic developers. The Schinzel-Giedion Syndrome Foundation is the only SGS patient group and serves to represent the international SGS community. https://www.sgsfoundation.org

About The European Joint Programme on Rare Diseases (EJP RD)

The European Joint Programme on Rare Diseases (EJP RD) brings together over 130 institutions from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.
https://www.ejprarediseases.org/

Contact The Schinzel-Giedion Syndrome Foundation

Nuala Summerfield, Founder and Chair
Tel: +44 (0)7957 168815
nuala@sgsfoundation.org
https://www.sgsfoundation.org

Contact Dr Alessandro Sessa, PhD

Division of Neuroscience Stem Cells & Neurogenesis Unit
San Raffaele Scientific Institute
via Olgettina 58
20132 Milan, Italy
Lab ph. +39 02 26434612
Office ph. +39 02 26435790
Fax: +39 02 26436585
Email: sessa.alessandro@hsr.it or ale.sessa81@tin.it

Contact Dr Carl Ernst, PhD

Douglas Research Centre
Department of Psychiatry, McGill University
6875 Boulevard LaSalle
Montréal, QC
H4H 1R3
Ph: (514) 761-6131 x3382
Fax: (514) 762-3023
Email: carl.ernst@mcgill.ca

Hashtags to use if sharing this article:

#schinzelgiedionsyndrome
#sgsfoundation
#raredisease
#rareepilepsy

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Happy 1st Birthday to SGS Foundation!

Happy 1st Birthday to The Schinzel-Giedion Syndrome Foundation!

Read the Story Here

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International SGS Awareness Day

International Schinzel-Giedion Syndrome Awareness Day 13 November 2020

By Emma Hudson, Secretary and Trustee of The Schinzel-Giedion Syndrome Foundation and mum to 2-year-old Jude who has SGS

Happy Birthday to Us!

13 November 2020 marked one year since the The Schinzel-Giedion Syndrome Foundation was registered as an official charitable organisation with the Charity Commission in the United Kingdom. Our Foundation was created to represent children living with SGS and their families all over the world. One of our missions is to raise awareness of SGS as a rare disease. This mission led us to establish the very first International SGS Awareness Day. What better way to celebrate our Foundation’s birthday?!

13 Days of Awareness

From November 1st, every day for 13 days in the run-up to our Awareness Day, we shared social media posts on Facebook, Instagram and Twitter featuring stories of children with SGS, important information about the condition and photographs of our SGS children and their families. The aim was for these posts to be shared far and wide so the world could learn about SGS and the way it affects our children’s quality of life. The international SGS community took the Awareness Day campaign to heart and shared our posts with not just family and friends but also medical professionals, researchers and other patient organisations.

Purple and Proud

We asked our families to share photographs of their children wearing purple to show their support for the SGS Awareness Day. There was a selection of heart-warming photos shared widely on Facebook and Instagram with the #sgsawarenessday and #schinzelgiedionsyndrome. The purple theme was strong throughout, with our children’s classmates and teachers wearing purple in support of SGS, as well as purple-themed painting and sensory play sessions and delicious purple SGS cakes!

SGS Photobombs Explode!

A very special part of the SGS Awareness Day was the creation of the eye-catching digital photo frames which featured children from all over the world who are part of our international SGS community. The photo frames were designed to be posted and shared on Facebook and Instagram by our families. The highlight was a beautiful short film created from all of the framed photos, which can be viewed here. A special thank you to Franco Grech, graphic designer, who created these digital frames and film as part of the pro-bono work he does for the Foundation. They really made an enormous impact and helped to make our Awareness Day so memorable.

Fundraising Success!

Another of our missions is 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 SGS. To do this we need to raise funds to support vital medical research.

A very important part of the SGS Awareness Day campaign was the fundraising that occurred within the SGS community. The call to arms was heard by our community and generous donations were received from across the globe.

This is a huge achievement for our very first fundraising campaign and we would like to thank everyone for their amazing generosity. We will soon share further information about the research projects that these funds will be supporting and the impact this research will have for our children.

Date for your diary: International SGS Awareness Day 2021 will be on Saturday 13 November 2021.

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