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I Live Every Day Without Knowing What's Wrong With My Son

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On Friday, April 24, the third Undiagnosed Children’s Day takes place in the UK. The aim is to raise awareness for undiagnosed genetic conditions and for Syndromes Without a Name (SWAN) UK, the charity that offers support and information to families of children affected by these conditions.

What could I tell you about this awareness day and the children it supports? Why is it important? What could I write that would give you a sense of what it is like to have a child living in the unknown?

What could I tell you that would make a small impression on your heart? That would make you stand still for a second in your busy day? A day that is already overflowing with the demands of your own children, jobs, and your hopes and fears.

What could I tell you about my boy — just one of the 6,000 children that are born each year with a genetic condition that will remain undiagnosed?

I could tell you about the waiting — the horrific, terrifying waiting. We live in limbo as test results for diseases that are life-limiting and life-destroying chug through the system. To become “undiagnosed” these diseases have to be ruled out first. That this can take years.

I could tell you that even when the tests come back negative that doesn’t mean that the prognosis is now favourable, that we have dodged a bullet. It just means that the doctors can not find what’s wrong.

I could tell you that hundreds are starting to get a diagnosis each year as genetic testing becomes more sophisticated, but in most cases this is meaningless as the genetic break points and mutations are so rare that there is no collective to garner knowledge from.

I could tell you that these children are writing the medical books for the future. That because of them generations to come will not have to face a future so uncertain.

I could tell you about the fear.

A fear that bubbles every time they are ill.
A fear that surfaces every time you look too far ahead.
A fear of your own mortality, because who will care for them the way that you do?
Or worse, a fear of a time to come that does not include them.

I could tell you that most of these children are so medically complex that the doctors don’t know which way to turn. Because of this, they miss stuff. Every day common conditions that would transform their quality of life can go untreated for years.

I could tell you that a simple milk protein allergy was killing my child. He wouldn’t be here now if one doctor hadn’t decided to think outside the box.

I could tell you of the brutal things we have to do to our babies — the countless blood tests and feeding tubes. We have to decide whether to subject them to painful operations that we are not sure will work.I could tell you that sometimes they are deemed unworthy of these medical procedures. The procedures are seen as a waste because they are “the least of their problems.” Yet any good doctor would tell you that small things can make a big difference.

I could tell you about the everyday stuff for us. About how galling it still is to pin down my son every single night and inject him with a hormone so that he can grow.

I could tell you that he wakes in the night from a hunger he doesn’t understand.

I could tell you about the feeding issues. The soul-destroying feeding issues. How each meal of baby mush can take over an hour. That to start we need to hold down his arms and force in the first few mouthfuls because he is afraid.

I could tell you that he will not eat anywhere apart from home and school (sometimes). That he currently will not take his milk, the nutritionally complete formula that keeps him alive, from anyone else but me. If I am not there, he does not drink. I could tell you that he eats just enough and is gaining weight, albeit slowly, so his doctor is reluctant to intervene at this stage. That this is just watchful waiting. That a feeding tube into the stomach is eventually inevitable.

I could tell you about how hard it is to get out and about. The long, lingering looks from people that turn away quickly as soon as you look back. People who wonder about a 4-year-old being nursed with a bottle still, who flaps his hands and makes funny noises. He moves across dirty floors with his hands as this is his only mobility.I could tell you that I feel their judgement sometimes.

I could tell you that I can’t even tell them what is wrong.

I could tell you that pity and “feeling so bad for us” for us is almost as bad as people not giving a crap.

I could tell you that with no diagnosis it is harder to access support. That most of our families have to battle to receive respite and basic services.

I could tell you that without a name for his condition we were turned down to start the process for house adaptions (a process that takes years). We were told to call back when things get so bad that we can hardly lift him, to wait to start this process till our backs are breaking from lifting and carrying a heavy non-mobile child.

I could tell you that walking is years away (if ever). And when it comes he will still tire easily and probably always require a wheelchair. Climbing stairs may be a bridge too far.I could tell you that we often feel like we are getting it wrong, that we don’t do enough. Like we did something to make this happen.

I could tell you that we struggle emotionally at times and take it out on the wrong people. I use emotional overeating as a coping mechanism and that makes me feel worse about myself.

I could tell you that it’s hard for his brother and sister to explain him to friends. What can they say except that he doesn’t work very well? They have to miss out on things because of him, but they take this all in their stride.

I could tell you that every time there is an issue with their friends, school or their behavior, we panic that this is related to the world we live in that is different from their peers. We worry they’re struggling and we are too busy to see it.

I could tell you that with no diagnosis we have no idea whether it will affect their children.

I could tell you we don’t know what tomorrow will bring. It may all get worse before it begins to get better.

I could tell you all of this so you could have a glimpse of life with an undiagnosed child. But there is more.

I will tell you that I wouldn’t now change a hair on his head.
I will tell you that he makes us smile every day. We are proud of him. Of all of us.
I will tell you that together we are a strong team.
I will tell you that he has given us so much more than he has ever taken away.

I will tell you all of this. But most importantly I need to tell you this — he is a little boy. The person he is supposed to be. Just like you and just like me.

This is me telling you about just one undiagnosed child. There are many, each with their own medical battles. We are a legion.

Many are in pain, lots are plagued with seizures, a good number struggle with behavioral problems. With no diagnosis, they are viewed by the world as naughty.

A version of this post originally appeared on Complicated Gorgeousness.

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Originally published: April 15, 2015
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