Getting a diagnosis not only helped Sebastian, it changed the way I listen and care for my own patients.
Sebastian was 3 and a half years old when genetic testing revealed that he has a rare genetic condition called SHINE Syndrome.
His Mum, Diana, is a GP and had been seeking answers to his symptoms since he was a baby.
“His birth was absolutely fine, but as a baby he cried all the time and by the time he was 9 months old I could see that balancing was a challenge for him and his motor skills were struggling.”
Despite seeing many paediatricians, physiotherapists and speech and language therapists, Sebastian didn’t improve and his family didn’t get any closer to finding out what might be wrong.
“I was training to be a GP and leaving him at nursery was very traumatic. He couldn’t crawl so the other children were running around him and he couldn’t keep up. We were all very miserable.”
Sebastian’s play therapist referred him to a specialist nursery and school which has been transformational for both Sebastian and his parents, but still there was no diagnosis or answer to their questions.
“So many clinicians dismissed Sebastian’s symptoms as developmental delay, but I knew there must be a reason, so I pushed for genetic testing. When I met the geneticist at St. George’s Hospital, it felt like someone was listening to me for the very first time. They agreed to send Sebastian for genetic testing.”
Sebastian’s genetic results showed he is one of 250 known people in the world to have a condition called SHINE Syndrome. It’s caused by a change to the DLG4 gene which triggers muscular issues, significant sleep disturbances, intellectual disability, autism, ADHD and often epilepsy.
“Suddenly I felt that I wasn’t alone. I found a community of people on Facebook who all had children similar to Sebastian. It was scary and brilliant all at the same time.”
The genetic diagnosis finally answered Diana’s many questions and opened up new opportunities. Sebastian is now part of an international research study and they have connected with other families who understand the issues they are living with.
Sebastian requires full time care including extensive physiotherapy and speech and language support. Alongside her GP training, Diana spent 18 months helping Sebastian to crawl. When he was 2 years and 3 months old he took his first steps.
“It was such a rewarding moment to see him walk. However, the effort of learning to walk meant his body forgot how to make sounds. Even now aged 10, he finds walking difficult and remains non verbal.
Getting a diagnosis raised Diana’s hopes, but it also sparked other questions. If she had another baby, would it too have SHINE Syndrome? Before she got pregnant, Diana and her husband had extensive genetic counselling. When they did conceive, they decided to have the CVS test to understand if the baby also carried a change to the DLG4 gene.
“I knew I couldn’t cope with two children with SHINE Syndrome so it was a very difficult decision to try for another baby. We’d also had genetic testing so we already knew that Sebastian hadn’t inherited the change from either of us. It was what’s called a de novo mutation and so the chances of it happening again were reduced, but not forgotten.”
Her son was born four years ago and her Mum moved from Romania to help.
“My experience has changed the way I treat my own patients. I listen more and I know I am more empathetic because of my experience of looking after Sebbie and trying to get healthcare professionals to listen to us.”
Sebbie is now 10 years old. His sleep is extremely unpredictable and he is often awake at 2am so it’s difficult for the family to make plans. He has the mental capacity of a two year old and his muscle tone is very weak, but he is a happy child and loves school.
Diana has continued her studies and is now a GP with a special interest in cardiology. She is also determined to raise awareness of SHINE Syndrome with fellow healthcare professionals. Last year she helped to organise a UK SHINE Conference bringing families and clinicians together for the very first time.