UCD2021: Laura’s story

Did you know that this Friday, 30 April is Undiagnosed Children’s Day?

Did you know that approximately 6,000 children are born every year with a genetic condition so rare that science hasn’t yet discovered what it is?

Did you know that many children remain undiagnosed into adulthood?

I didn’t. Well not until I had my son Brody. Before he came along I didn’t know that being undiagnosed was even possible. I naively thought doctors had the answers for everything. That science had it covered.

No one really tells you your child is ‘undiagnosed’. You kind of fall into this land of limbo. In our case I pieced together the lack of answers and global development delay label that my son had been given around the age of three and stumbled across the charity SWAN UK (syndromes without a name). It was through SWAN UK that I finally found somewhere we fitted in – amongst other beautiful misfits.

Brody is nine years old and has diagnoses of epilepsy, autism, megalocephaly and hypermobility. He also has a foot deformity and unstable ankles. The best way to explain him being ‘undiagnosed’ is that his doctors think that although he has these conditions and symptoms they do not explain the bigger picture. He has no overarching diagnosis. Up until very recently genetic tests all came back ‘normal’. This is the first Undiagnosed Children’s Day that we are closer to finding an answer. They have recently found a gene change in his X chromosome that may explain his symptoms but it’s early days in researching it. Geneticists in France have found half a dozen other males with the same gene change presenting similar symptoms to Brody. One day, this gene change – ‘SLITRK2’ – might be Brody’s rare diagnosis.

It’s a rollercoaster having a child who is undiagnosed. As the years have gone by, I have got used to the unknowns, but in the early days it was really difficult. I just wanted answers and no one could give them to me. I’m not going to lie, deep down I’d still like answers. After all, no diagnosis means no prognosis. But time teaches you that really no one has all of the answers, diagnosis or not. And when you have a child who is undiagnosed the reason that they are is because they have a really rare genetic condition. So if we are ever in the situation of science discovering what it is, we are at the very beginning of finding out what it means and in reality won’t know much.

The truth is Brody is much more than being undiagnosed. He is much more than the diagnoses he’s been given and the symptoms that he has. He is Brody – a happy-go-lucky, raspberry blowing boy who has taught us what’s important in life. He is our biggest teacher and greatest lesson.

He is a limited edition.

Originally posted on Firefly.


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