NUALA’S STORY

My name is Nuala and I am the proud mother of an incredible little girl called Ophelia who was born with SGS (Schinzel-Giedion Syndrome). Ophelia is nine years old and we live in the UK.

SGS is a very severe, life-limiting condition affecting many body systems. It is caused by mutations in a gene called SETBP1, which is located on chromosome 18. The SETBP1 gene provides instructions to cells on how to make SETBP1 protein, which we are now discovering is extremely important for normal brain development as well as in the development of many other organs. Fewer than 100 children worldwide have been diagnosed with SGS but the true incidence is unknown. Currently, there are five children living with SGS in the UK that we know of.

LIVING WITH SGS

Most children with SGS have severe uncontrollable seizures, and sadly, many will die due to seizure-related issues before their fourth birthday. Children with SGS also have gastrointestinal, urinary and respiratory tract problems and an increased risk of developing certain types of cancer.

Ophelia has battled her entire short life with multiple daily seizures. She has difficulty sleeping and has severe developmental delay and learning difficulties. She has cortical, visual and hearing impairment. She cannot talk, but she communicates with us through sounds and body language, and she certainly knows what she likes and what she doesn’t! Ophelia cannot swallow properly so she needs to receive all her nutrition and medications through a gastrostomy tube to decrease the risk of aspiration pneumonia. She has low muscle tone and is unable to sit, stand or walk, so she needs to use a wheelchair. However, she is learning to roll to her right side, which is an incredible achievement! She is totally reliant on others for all of her care, 24/7. Despite all of these major challenges, she loves life with a passion and her amazing resilience and will to live is a daily inspiration to all who know and love her.

One of Ophelia’s favourite things is water. She loves to swim (in warm hydrotherapy pools!) and she loves warm, bubbly baths. She enjoys being outdoors and going for dog walks in her all-terrain adapted pushchair. She is very sociable and loves spending time with her teachers and friends at school. She really responds to music and her favourite artist is undoubtedly Ed Sheeran!

THE SCHINZEL-GIEDION SYNDROME FOUNDATION

As recently as two years ago, there were no active programmes of scientific research focused on SGS. For families of children with SGS and the medical professionals looking after these children, this was a desperate situation. This desperation and lack of hope was very evident from the many discussions and comments on our private Facebook group with SGS families all over the world. As a rare disease community, we felt that we were ‘too rare’ to be of interest to scientists and pharma. Without research interest there is no opportunity to advance knowledge of a rare condition and no hope for the development of new, effective targeted treatments for our children.

This was the motivating force for establishing The Schinzel-Giedion Syndrome Foundation as a registered UK charity (number: 1186327) in November 2019. Our charity is run by an international group of volunteer trustees and all of us are parents of children with SGS. We recognised the important role that a Foundation such as this could play as an enabler, to raise the profile of SGS and to make this research area attractive as a research proposition for as many different institutions and academics as possible. The more people working on a rare disease the better!

RARE EPILEPSY RESEARCH

This hard work and commitment has now paid off and we have just received the incredible news that over two million euros (approximately 1.75 pounds) of European grant funding has been awarded to our international group of researchers to work together to find effective, targeted treatments for SGS. This is the first major funding awarded for SGS-specific research and offers our patient group and our international SGS community the unique opportunity to collaborate closely with these world class scientists to help them to develop new treatments for rare epilepsies.

It is also relevant that the same SETBP1 mutations that cause SGS in children can cause certain difficult to treat leukaemias in adults, and so our hope is that through this SGS research we may learn more about these SETBP1 mutations and how they drive cancer, thus advancing rare cancer research too.

Nuala swimming

THE FUTURE

Ophelia will celebrate her 10th birthday in March which makes her one of the oldest surviving children with SGS. She has clearly not ‘read the textbooks’ and has exceeded all her doctor’s expectations, which I am so incredibly grateful for. There is clearly so much more to learn about SGS, and this new research funding gives us hope and increased optimism that a future when all children with SGS will live longer, healthier and happier lives is now a real possibility.

Rare Disease Day is a very important event as it helps to raise awareness and bring a sense of community to everyone living with a rare disease.

For more information about the SGS foundation or to get in touch please visit www.sgsfoundation.org

TO LEARN MORE ABOUT PEOPLE LIVING WITH RARE CONDITIONS, WATCH THE UK’S OFFICIAL RARE DISEASE DAY VIDEO. IF YOU WOULD LIKE SHARE YOUR OWN EXPERIENCES, PLEASE EMAIL [email protected].

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