Learning Disability Today
Supporting professionals working in learning disability and autism services

Getting a rare disease diagnosis: the diagnostic odyssey

A rare disease is defined as a condition that affects less than one in 2,000 people. Although they may be individually rare, they are collectively common, with one in 17 people being affected by a rare disease at some point in their lives.

Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centres. Consequently, computerised diagnosis support systems have been developed to address these issues, with many relying on rare disease expertise and taking advantage of the increasing volume of generated and accessible health-related data.

The UK Rare Diseases Framework was published in January of this year with the aim of putting the needs of patients at the forefront. It outlines four high-level priorities for rare diseases in the UK over the next five years:

  • helping patients get a final diagnosis faster
  • increasing awareness of rare diseases among healthcare professionals
  • better coordination of care
  • improving access to specialist care, treatments and drugs

For people living with a rare disease, getting the right diagnosis is key to appropriate management of their condition. It can enable greater treatment choice and reproductive decision making and can link individuals to vital information and support through patient organisations.

However, getting the right diagnosis has been consistently highlighted as one of the most significant challenges faced by both the genetic and non-genetic rare disease community. 

According to the Framework authors, it can take years to receive a final diagnosis, and some people living with a rare disease may never receive one at all. This ‘diagnostic odyssey’ often involves multiple referrals, inconclusive tests, and sometimes incorrect diagnoses before a final diagnosis is obtained. 

In this article, Emma Murphy talks about the diagnosis journey for her son Hugh, who was eventually diagnosed with FOXG1 syndrome when he was seven years old.

Getting a rare disease diagnosis

I vividly remember the day we first started our diagnosis journey. I was sat in the conservatory in our old house, huddled in the corner of the large, brown sofa. It was dark outside and I stared out, unseeing, as I explained to my cousin, over the phone, that the paediatrician had decided to run some tests on my son, Hugh, who around six months old at the time.

Whilst I’d had significant concerns about his development thus far, I’d been making excuses about why that might be; he was born at 38 weeks – maybe that was a little too early, he spent nearly two weeks in neo-natal – maybe that had delayed his development, he had significant reflux – maybe he wasn’t getting the essential nutrients he needed to develop? 

The paediatrician agreed that, to some extent, these factors could all be relevant, yet he was insistent – the head circumference was not growing in line with his height and weight, coupled with his, by now fairly obvious, delays, meant it really was time to investigate.

Away from the hospital I’d been raising my fears regularly, with close friends and family, but now that a professional was agreeing with me, I was terrified. I didn’t want to be right. I didn’t want anything to be ‘wrong’ with my baby. I remember explaining to my cousin that I was sorely tempted to refuse the testing. I didn’t want to know. I didn’t want him labelled. I knew, deep down, how illogical that was, but I was scared. What if he had something they couldn’t fix, something he wouldn’t grow out of, something serious?  She calmly talked me down, assuring me a label wouldn’t change Hugh, but instead might enable him to get the right support and the right treatment to give him the best possible future.

The long road of testing for a diagnosis

Of course, now I understand that microcephaly (a small head) is a good indicator of a genetic condition. Back then though, I was blissfully unaware. Naively, I assumed that we’d soon be given answers and information: a neat little label, and treatment plan. It didn’t occur to me that they might not be able to find a cause.

Initial genetic testing (a micro-array test), identified a large number of breakpoints on Hugh’s chromosomes. There was no evidence that any genetic material was either deleted or duplicated at these breakpoints though. Instead, he had what is known as an (apparently) balanced translocation. This was enough for the paediatrician (and later a geneticist) to conclude that Hugh’s condition was genetic in origin, but that it was possibly something so rare he may never get a diagnosis.

I knew this was something he would never grow out of, yet with no diagnosis I had no idea what the future might hold for him. I felt incredibly isolated and alone. 

I didn’t know then, that not having a diagnosis was an actual ‘thing’.  I genuinely thought we were alone in the world, having an undiagnosed child. Which is ridiculous since approximately 6,000 children are born every year in the UK with a condition (or disease) so rare that it is undiagnosed. But no one thought to mention that point to us. Without a diagnosis, I felt unable to reach out to the local support groups which seemed geared towards specific conditions. We didn’t fit anywhere. I didn’t know where we belonged.

Thankfully, shortly after Hugh turned one years old, I found SWAN UK, a group supporting families of undiagnosed children. Things started to fall into place then.  I finally found others with children, like Hugh, who were still searching for their diagnosis and realised we weren’t alone at all. I made friends with other families and had people to turn to for the advice and support and information I’d been craving.

As time went on, Hugh developed further conditions to add to his ever-growing list including, but not limited to, epilepsy, severe visual impairment and obstructive sleep apneoas. He also needed to be tube fed after he lost the ability to swallow safely, following a bout of horrendous seizures. All the while we searched for a diagnosis. 

I spent hours scouring the internet, convinced I could diagnose him myself.  The geneticist wrote to colleagues across the globe sending photos of Hugh’s supposedly ‘distinct facial features’ in the hope that they may have answers.  And we took part in research studies – the DDD study (Deciphering Developmental Disorders) and The 100,000 Genome Project

Getting the elusive rare disease diagnosis

In those early days, I was convinced every new appointment or every new letter would hold the answer; the elusive diagnosis. Yet, as time went on, I became accustomed to not knowing. At times I wondered if we’d ever find out and had started coming to terms with that possibility. 

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 in detail at apparently balanced translocations, just like Hugh’s. They thought that they could have a diagnosis for me within six months. It took significantly longer than that, but diagnose him they did!

After three years on the study (and nearly eight whole years of searching for answers), Hugh was given a diagnosis of FOXG1 Syndrome

Life with FOXG1 syndrome 

My first feeling, on receiving the diagnosis was one of relief.  We finally had a label, somewhere to call home, and I could categorically say for certain that it was not my fault. You’d think, after all these years, that I’d have stopped blaming myself, but, even though we’ve known since Hugh was about seven 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 was also incredibly relieved that there weren’t any scary new symptoms I needed to look out for. Sadly, some families receiving rare genetic diagnoses 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. Perhaps the biggest health risk associated with FOXG1 syndrome is seizures, but we’ve already been dealing with those for years.  

A little part of me was excited by the diagnosis. It meant I would be able to meet other families with children who had the same condition as Hugh. We’re lucky that, despite it being a rare condition, there are currently around 500 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.

I was surprised that I felt a bit angry and bitter that the diagnosis had taken so long, though I appreciate that is nobody’s fault. 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. 

An earlier diagnosis would have meant more support

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 two years old 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 four 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 seven 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 much 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 sometimes imagine what it might be like being handed a leaflet as we left the hospital with our newborn, or at six 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 reading 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 is indeed 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 and 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 now have answers and can finally stop searching. 



Rare disease UK

International FOXG1 Foundation





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