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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