When Your Child Has 'No Unifying Diagnosis'

How can he be undiagnosed?

Didn’t you say he has autism and epilepsy?

Isn’t global developmental delay a diagnosis?

Have they not carried out tests?

Isn’t it a good thing that nothing has been found?

The well-intended questions above are admittedly slightly draining at times. They are also the reason why I’m grateful for the charity SWAN U.K., which helps to support families like mine who have a child with no primary diagnosis to explain their disabilities. The charity unites us all in what can be isolating circumstances. You really can’t beat talking to someone who just gets it and has “been there.”

Explaining that Brody is undiagnosed to others can be quite difficult because it’s hard for people to get their head around.

Many believe his secondary diagnoses of autism and epilepsy are the reason for all of his symptoms and disabilities. Many believe global developmental delay is a diagnosis, when it’s not. It’s a “catch all” term that just means delayed, and suggests may catch up, which isn’t necessarily the case.

Many believe doctors have all the answers. Or at least if they don’t know the answers straight away, they will in the end. It’s not easy to process the reality that doctors can’t always figure things out. That there are unknowns and sometimes — no matter how many tests — some syndromes are so rare they are needle-in-a-haystack hard to find.

Many believe if your child is tested for numerous syndromes and the tests come back “normal,” it is a good thing. They don’t know lots of parents live in limbo — their child has a syndrome, but they do not know its name or anything about it. No answers. No prognosis.

Will their child progress? Hopefully. Will their child regress? Hopefully not. Will they live with uncertainty, never knowing how their child’s life will be? Most likely.

If you find it hard to get your head around this, imagine how long it took me to get my head around it — and all the other parents out there walking similar paths. 6000 undiagnosed children are born every year and it is likely many will remain this way into adulthood.

A few years into our undiagnosed journey, I am now at a stage where I’ve accepted Brody’s disabilities aren’t going to go away. That global developmental delay doesn’t mean he’ll catch up. That no amount of tests, medicines and therapies are going to make him a neurotypical 5 year old boy, though of course he’s perfect regardless.

Brody has a learning disability. Yet I continue to struggle with the fact that he is primarily undiagnosed — or has “no unifying diagnosis” as his pediatrician puts it. I continue to struggle with doctors making observations about him but having no answers.

He’s very bendy, isn’t he?

He doesn’t appear to have any dysmorphic features.

His weak ankle could be damage from a seizure.

We can’t say for sure, but it’s suggestive that he has gelastic epilepsy.

He has a very big head, doesn’t he? (If I had a pound for every time a doctor has pointed that out.)

Some days I long for answers. Not because I want to change him. Not because I don’t love him for exactly who he is – my beautiful boy. I just want to know. And it plays on my mind. Why?

On the darker days, I wonder if I am somehow to blame. Endless shoulda, woulda, coulda scenarios play out in my head when I lie in bed at night. Mum guilt is such a bitch. Was the bath too hot when I was pregnant? Did he overheat in his car seat that time I didn’t know I should take his coat off as a newborn? Was he having seizures as a baby that I missed,
which caused brain damage?

On the brighter days, I still want to find the missing piece of the puzzle so I can score through the big list I have with the title unknown. Sometimes I sit and daydream of a letter from genetics, telling us that the study we’ve been part of for nearly 3 years (DDD / Deciphering Developmental Disorders) has found something to explain all of Brody’s symptoms. Then I envisage the more likely scenario of it bringing no answers, because that is what we’re used to.

I know none of us have all of the answers. I know that no one knows what will happen in life. There are no certainties.

I know there is a good chance that if we find out what syndrome Brody has, it will be so rare that doctors won’t be able to tell us much about it. I know Brody is happy. He is loved. And thankfully, most of the time, he is healthy. For this we are truly grateful.

But I still want answers…

Why?

The reality is, I will probably never know.

And I’m not alone.

Undiagnosed Children’s Day is April 28. Part of SWAN U.K.’s big ambition is to double its membership in 2017, so all families who have a child affected by a syndrome without a name get the support they need, when they need it. To find out more and join, visit Swan U.K.