Undiagnosed Children's Day - Our Beautiful Misfits

Friday, 25th April is Undiagnosed Children’s Day – a day that may go unnoticed unless you have a child whose disabilities remain without a clear diagnosis. Perhaps your child hasn’t received a diagnosis yet, and you've never heard of "undiagnosed" being a possibility – after all, don’t doctors always have the answers? Or maybe you've just been told that your child has global developmental delay – the ambiguous term often used when answers are elusive.

It wasn’t until I found the supportive community led by SWAN (Syndromes Without a Name) UK that I realised my son, Brody, who was four years old at the time, fell into this category of beautiful misfits.

Brody, born on January 13th, 2012, was a generally healthy and happy baby – aside from severe reflux and constant vomiting.

Milestones

The struggles began with that dreaded red book and the pressure to meet milestones.

Weaning was a nightmare. Brody couldn’t chew, would gag constantly, and vomit frequently. Anything with lumps was too much for him, and his sensory issues meant that sometimes just the sight of food would cause him to throw up. I still don’t know how he didn’t need a feeding tube as a toddler.

He was delayed in sitting up, and when he did, he’d flop forward. He was slow to walk, and couldn’t go from sitting to standing. He didn’t babble, point, or play with toys in the way health visitors expected.

Baby and Toddler Groups

Attending baby and toddler groups was difficult. I could see the stark difference between Brody and his peers, and I knew something wasn’t right. Yet, I was told by health professionals that he was simply “a lazy boy,” and by family and friends, that I was overreacting. At times, this left me questioning my own sanity, and I often felt isolated.

Seizures

It wasn’t until Brody was 19 months old that he started having seizures, and finally, the health professionals took notice. Suddenly, I wasn’t just an anxious, first-time mum, and we were subjected to a series of tests, with a confusing array of medical terms and therapies that only added to the stress and confusion that so many parents experience when they first embark on this journey.

No Answers

Unfortunately, the tests always came back negative. At one point, they thought Brody might have Muscular Dystrophy, and later, Rett Syndrome was suggested. I even became convinced he had Angelman Syndrome after reading about it, but those tests were also negative. Ultimately, all they could say was that he had global developmental delay.

13 Years Later

Now, 13 years into Brody’s undiagnosed journey, not much has changed. He’s still my beautiful, joyful boy who has the ability to melt my heart and test my patience – sometimes at the same time! Whilst he still doesn’t speak, he has made cognitive progress, especially in his understanding, which is far better than it was five years ago. He has diagnoses of epilepsy, autism, joint hypermobility syndrome, and a learning disability. He’s had surgery on his feet due to a cavus deformity and attends an incredible specialist school. Yet, despite these diagnoses, none of them fully explain the bigger picture. He remains undiagnosed with a rare genetic syndrome that has yet to be identified.

Would a Diagnosis Matter?

At this point, would a diagnosis change much? Probably not, as there would likely be limited information and prognosis available. Still, I hope that one day we will get an answer.

Each year, around 6,000 children are born with a syndrome without a name. If this resonates with your experience, I encourage you to reach out to SWAN UK for support. You are not alone, and there’s a community of people who truly understand what you’re going through.