Dear Doctor

Dear Medical Professional, You will ask about his medical history, And I will repeat the story I have told 100 times or more, The details fine tuned to the essentials I know you need: He was born full term, He has a 7 year old brother who is fit and well, He is allergic to penicillin.  You will ask me what happened, And I will answer: He is 6 years old. He wasn't breathing for 7 minutes. I gave him mouth to mouth. I will hand over a careful typed piece of A4 paper. It will tell you his hospital number, The things he is allergic to, A list of medications and doses. You will take it and smile. You'll tell me I make your job easier. I will stand calm, And in control.  You see my demeanour, my hospital bags packed and ready, And you say, You've done this before. I'll nod and say many times. But remember this; That 6 year old is my baby. That boy with the oxygen, And the wires, And the tubes, Is my son. I watched him turn bl

How I Felt When My Son Was Diagnosed With A Rare Disease

My second born son, Hugh, is now nearly 8 years old, but just weeks after he was born I was concerned that there was something different about him.  Months of well-meaning family and friends and adamant doctors reassured, or forcefully asserted, that there was nothing wrong with him and it was all in my mind.  It wasn’t a comfort though to be proved right when, at 7 months old, we were told he had a genetic condition.  I knew then that this was a something he wouldn’t grown out of, something we couldn’t fix.  His disorder however, appeared to be so rare that it was undiagnosed; that is to say the tests could show his condition was genetic, but they couldn’t identify specifically what that condition was.

We underwent lots of testing to try and find out what was causing Hugh’s difficulties – brain scans and blood tests aplenty.  We took part in research studies – the DDD study (Deciphering Developmental Disorders) and The100,000 Genome Project.  In the early days, I was convinced every new appointment or every new letter would hold the answer; the allusive diagnosis.  Yet, as time went on, I became accustomed to not knowing.  At times I wondered if we’d ever find out.  A glimmer of hope appeared when a genetic counsellor on The Developmental Genome Anatomy Project (DGAP) in America contacted me to say that their study looked at chromosome abnormalities just like Hugh’s.  They thought that they could have a diagnosis for me within 6 months.  It took significantly longer than that, but diagnose him they did!

After three years on the study (and nearly 8 years of searching for answers), Hugh has a diagnosis of FOXG1 Syndrome. 

We’ve searched for so long for this diagnosis that it’s taken me some time to pick apart how I’m feeling about it.  My first feeling was one of relief.  We finally had a label, somewhere to call home, and I could categorically say for certain that it is not my fault. You’d think, after all these years, that I’d have stopped blaming myself, but ridiculously, even though we’ve known since Hugh was about 7 months old that he has a genetic condition, there was still a tiny part of me that wondered if it was something I’d done wrong.  I’m also incredibly relieved that the diagnosis itself hasn’t brought with it any scary symptoms I need to look out for.  The list of symptoms for FOXG1 syndrome are a very accurate description of Hugh.  The biggest health risk is the seizures, but we’ve been dealing with those for years.  Sadly, some families are suddenly having to cope with the fact that their child, whom they assumed was relatively healthy, are more susceptible to certain types of cancers or have the potential to regress.

A part of me is excited by the diagnosis.  I would be able to meet other families with children who had the same condition a Hugh.  We’re lucky that, despite it being a rare condition, there are currently around 350 children diagnosed with it across the world.  That might not sound a lot, yet some children are being diagnosed with conditions where they’re the only ones so far.  I imagine that must be even more isolating than being undiagnosed. There’s an active facebook group of other families of children diagnosed with FOXG1 so I’ve been able to reach out, ask questions and compare.  Even Sean, Hugh’s older brother, has been excited at the prospect of meeting other children who are ‘Foxes like Hugh’. For his part, he’s interested to find out if they all share similar vocalisations and whether they’d all communicate.  I think he still suspects Hugh is speaking a different language and that maybe it’s one that the other Fox children will understand.

I also feel a bit angry that it has taken so long to find out the cause of Hugh’s difficulties.  I wonder if we’d known earlier whether we’d have got support more quickly.  Many of the children with FOXG1 have feeding difficulties and have a feeding tube; perhaps we wouldn’t have spent a year with an NG tube while I continually berated myself for not being able to get Hugh to eat enough, stressing both him and myself out.  Perhaps he wouldn’t have had to suffer the blisters on his cheeks from the tape on his face to hold the NG in place and the socks on his hands to stop him pulling it out. Perhaps he wouldn’t have had to endure the pain and horror of being pinned down on the hospital bed while nurses passed another NG tube, drawing blood by scratching his enlarged adenoids and tonsils and causing him to go blue as he held his breath in anger and fear. 

One symptom of FOXG1 Syndrome is significantly delayed gross motor skills; many of the children can’t walk or sit independently.  Maybe we’d have had regular and consistent support from a physiotherapist from an earlier age. Maybe Hugh wouldn’t have been discharged from the Occupational Therapy service at 2 because ‘he might learn to walk’ and then we wouldn’t have had to fight to get reallocated a therapist and sit on a waiting list for 18 months, once he was old enough to ‘prove’ that walking was very unlikely and that we would need a hoist and a ramp after all. 

Several of the children and young adults with FOXG1 Syndrome have medically intractable seizures that present with apneoas.  Maybe when he stopped breathing that first time in December 2010, epilepsy would have been their first thought – rather than to send me home saying ‘it’s just one of those things’.  Maybe it wouldn’t have taken another 4 months of him stopping breathing, sometimes as often as twice a week before they decided to treat it as epilepsy.  Maybe, knowing that this type of epilepsy doesn’t respond well to medication, they’d have tried him on the ketogenic diet earlier.  Maybe Hugh wouldn’t have had to suffer repeatedly as he stopped breathing again and again and again, medications failing to make a difference. Maybe he wouldn’t have suffered the horrific side effects of some 7 different types of anti-epileptics that he tried.  Maybe he wouldn’t have ended up in high dependency, so damaged by seizures and so heavily drugged that he couldn’t lift his head and he lost the ability to even smile.  Actually, I’m more sad than angry about that.

But, for all the benefits that an earlier diagnosis may, or may not, have brought.  I can’t help but feel lucky that we didn’t know sooner and that Hugh remained undiagnosed for so long.  I imagine being handed a leaflet as we left the hospital with our newborn, or at 6 months old when they first noticed his head wasn’t growing.  I imagine the list of things that that leaflet might tell me about the future I could expect for my beautiful baby.

He will never sit or walk.

He will never talk.

He will struggle to eat and will most likely be tube fed.

He will suffer from seizures.

I can only begin to imagine how terrifying and devastating that would be.

I’d wonder what life would be like for a child like that. 

I’d wonder how a family could cope with a child like that.

And yet that list, well, it’s an accurate description of Hugh.

He is that child.

We are that family.

And what that list doesn’t tell you is about how much love a child like that can give.  Not through their words, nor even their actions, but in their smile, in their very being.  How that child can show you the beauty in the world, a beauty you didn’t even know was there. That leaflet wouldn’t mention that in time, the walking and sitting becomes less important and although the seizures are difficult, somehow, you’ll learn to live with it.

I have learnt these things gradually about Hugh over the years without a diagnosis or an information leaflet. We faced each new challenge as it came, adjusted our expectations for the future as time passed. Perhaps slowly coming to terms with Hugh’s disabilities over time has made it easier for me to accept his diagnosis than if I’d been confronted with it all at once at an early age. 

All things considered, I’m happy that we have our rare disease diagnosis of FOXG1 syndrome, that we have answers and can finally stop searching. 

This post is written to raise awareness of rare diseases for #RareDiseaseDay. 1 in 17 people will be affected by a rare disease at some point in their lives.

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If you liked this post, please consider reading my post Dear Doctor and voting for it in the Biggest Impact Category at the BAPs blogging awards .