The uncertainty of bringing up a child with an undiagnosed genetic condition.
Approximately 6,000 children are born every year in the UK with a genetic condition so rare that it is often impossible to diagnose (SWAN UK).
Imagine having a child who has a number of symptoms and conditions but never knowing what caused them. Imagine never having any answers, despite seeing numerous health professionals and having numerous tests. Imagine never knowing if they would regress, stay the same or continue to develop cognitively and physically. Imagine never having a prognosis and never really knowing what the future held for them.
I am parent to a beautiful six-year-old boy, Brody (pictured with the author), who has an undiagnosed genetic condition.
When Brody was born, he passed all of his newborn tests and was a content, happy baby. I began to notice that he wasn’t developing typically when he was a few months old. It was a classic case of mother’s intuition coupled with attending baby and toddler classes and noticing a difference between him and his peers.
Brody found it difficult to sit up, was slow to crawl and then walk. He had sensory issues and vomited a lot – sometimes just at the touch or look of something. He struggled to chew and eat food that wasn’t pureed to within an inch of its life. And there was no babbling or pointing at all. I voiced my concerns to my health visitor and GP, but they didn’t share them and he was said to be just “slow”. It wasn’t until Brody was nearly two years old and had six seizures one day in October 2013 that health professionals started to take notice.
Tests were carried out, which all came back “normal”. I was told that he had global development delay – a catch-all term which back then gave me hope that he may one day catch up with his peers. But as he got older, the developmental gap between him and his peers grew wider and I knew that this wouldn’t be the case.
Today, at six-years old, Brody attends a school for children with SEN. He has a learning disability, is completely non-verbal with unsteady legs, a deformed foot, hypermobility, epilepsy and autism. Of course, these facts do not define him. He is a happy-go-lucky, delightful little boy who usually can be found with a smile on his face.
Every year since Brody was born he has had tests. From MRI scans and EEGs to micro arrays and a nerve conduction study, Brody’s results always come back “normal”. Sometimes this isn’t a bad thing, but sometimes – when we really want an answer – it can be incredibly frustrating.
Our only hope of finding an answer is the genetic studies we have taken part in: the Deciphering Developmental Disorders (DDD) study and most recently the 100,000 Genomes Project – currently the largest national sequencing project of its kind in the world. We are grateful to be part of both of these projects; however, sadly, neither can guarantee a result and could take years.
Never having answers for your child’s conditions is something that can take time to get your head around as a parent. Before I had Brody, I naively assumed that doctors had the answers for everything. And if they didn’t know, they could find out. Of course, life isn’t that straight forward.
Realistically, Brody’s syndrome is so rare there is a strong possibility that if we ever do find out what it is, there will not much research or information about it. But as a parent, I want to know everything I possibly can about my son. The reality is, like many others, Brody may remain undiagnosed into adulthood.
Thankfully, right now our beautiful boy is happy and healthy – something we don’t take for granted. Diagnosed or undiagnosed, we will fight to ensure that he has everything he needs, whilst hopefully keeping that smile on his face.
Laura Rutherford blogs about her family at:
For information on undiagnosed genetic conditions, visit: