At the inaugural meeting of the All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions, the parliamentarians attending agreed unanimously that hearing from patients and families was the best way to fully understand an issue. Breaking down complex issues into the day-to-day reality faced by individuals affected by rare, genetic and undiagnosed conditions will be at the core of this new APPG.
Alison, a member of SWAN UK (Syndromes Without a Name) set this off to a flying start with her speech about living with an undiagnosed genetic condition, which she has kindly allowed us to share with you:
My name is Alison and I have three children - Liam who is nine, Erin who is eight and then the baby of the family is Gabriel.
Let me let you a little bit more about Gabriel.
Gabriel is five years old and has global development delay, which means he is delayed in all areas – from gross motor to speech. At five, he is more like a 12 to 18 month old in terms of his understanding and ability to play.
He has hypotonia – meaning his body is still a bit floppy and it takes him longer to gear his muscles into action. In addition, he also has some minor cardiac abnormalities and cannot produce growth hormone so needs daily injections to grow. He is also intolerant to milk protein and gluten.
Gabriel started reception class this year. He loves his school and has a best friend called Dylan. They spend a lot of time giggling.
Like any little boy, Gabriel is a lovable rascal. He doesn’t yet walk, but is a champion bum shuffler and gets himself around at great speed when the mood takes him leaving all manner of mess in his wake. And although he is still in the very early stages of speech, he is by far the loudest in our house.
If you need to know one thing about Gabriel it is that he loves to laugh. He laughs such a lot.
Gabriel is happy. We are happy. Life is good.
At the moment.
You see Gabriel has an undiagnosed genetic condition, which means that we live every day not knowing what is wrong with our son. We live under the shadow of an unknown disorder. There is no collective before us to tell us what to expect in the future. We are living in the dark.
How best to explain this?
Having an undiagnosed child is like climbing a mountain. I would say we are currently at the top. We have exhausted testing for now and his health seems stable. He is settled at school and in terms of acceptance – we are okay. Gabriel is just Gabriel. Just another little boy.
But I have to tell you that climbing this mountain has been one of the hardest things my husband and I have ever done.
There were times when we thought we’d never make it to the top. That it would break us. We are scarred and battered by our experience and we are definitely not the same people that stood frightened at the bottom looking up. Perhaps it has changed us for the better – I believe in many ways it has.
I suppose Gabriel’s story starts at his 12-week scan when we found out that there was a strong possibility that he would have a chromosomal disorder. He had a high nuchal fold – which is a little fat pad of fluid at the back of his neck – which is common in children with Down’s syndrome.
I am glad we refused prenatal tests, especially now that we know his rare chromosomal syndrome could not be picked up by screening. We would have felt we had dodged a bullet, when we were in fact skipping unbeknownst to the battle field.
The birth was unremarkable and we had a lovely peaceful couple of hours with our “perfect” baby boy before life tilted on its axis.
Gabriel quickly developed breathing problems and was whisked away to neonatal for observation. He remained in hospital for 17 days.
Whilst there we discovered his heart problems. Three holes – two which have closed completely – and a misshapen aorta. Instead of being shaped like the top of a walking cane, it is angulated. To everyone’s surprise the blood flows perfectly well through the crooks and no intervention is needed just yet.
He also had great difficulty doing what should have been a new born instinct - to latch and suckle. Thus, began what would be an extremely long and dark battle with feeding.
When we finally brought him home, we were still optimistic that all would be okay. Yet the feeding problems got worse.
We took shifts staying awake with him through the night. The little milk he consumed, he would throw up again within minutes. Then he would cry for more and we would start again. All through the night. Every night. For years.
In those early days, as he seemed to get weaker by the day, everyone couldn’t help fearing the worst. Including us.
The NHS stepped in and did what it does best. It tried to discover what was wrong, so it could fix it.
Because Gabriel had started life in the neonatal unit, we stayed under the care of a neonatal consultant for the first two years. She worked tirelessly to try and get to the bottom of his problems and gave him the best possible start.
From five months old he had access to physiotherapy. We were referred to a child development centre for a multidisciplinary review and we got numerous forms of specialist input from an early stage – including weekly access to an early support play therapist – which later helped make the school statementing process a smoother transition.
I know other families of children with undiagnosed conditions whose health and development issues were not picked up until they were a couple of months old or even older.
And because the concerns were highlighted in the community instead of the hospital setting they had a trickier start to their journey. A GP or a community paediatrician is likely to have less knowledge or experience of the rarer or more complicated conditions than a neonatologist, who is trained specifically to handle the most complex and high-risk situations.
But there needs to be a balance too. Gabriel was nearly two years old by the time we got his vomiting under control and a specialist diagnosed him with a milk protein allergy and possible coeliac disease.
That something quite “simple” was missed for so long grates still as it made him very ill and caused serious chest infections – one that landed him in intensive care on a ventilator. He didn’t get chance to grow stronger as he was medically malnourished and I am in no doubt this delayed his development even more.
Perhaps if the medics had stopped chasing for that rare “hen’s teeth” disease, it might not have been overlooked.
That said our neonatologist was amazing. I have much to thank her for. Although I didn’t feel very thankful at the time.
The testing process was relentless. Gabriel had many, many tests from cystic fibrosis to muscular dystrophy. It was like playing the lottery, but the prize was a life-limiting paediatric illness. Each test that came back negative was replaced with another test and the diseases became rarer and rarer. At the same time, the list of specialists grew.
Then just as suddenly as they started, the testing came to an abrupt halt. Doctors began to admit they were baffled and that no matter how much they tried they could not connect his existing health problems into a unifying diagnosis.
Some even started to speak about a “Gabriel” syndrome. A rare genetic syndrome.
So what next?
We were lucky that the Deciphering Developmental Disorders (DDD) study was still recruiting at this stage and we were invited to join by our local NHS genetics service.
I think getting a place on this trial allowed us to catch our breath. There was nothing more that we could do, but wait. And the wait was likely to be years. The pressure lifted a little. We had no choice but to get on with life. And we did slowly.
It was at this point that we discovered SWAN UK – a support group for families of children with undiagnosed conditions. We realised we weren’t the only family struggling to find a diagnosis for our delayed child.
Since joining the group we have made many new friends and they undoubtedly made the last bit of this climb up this mountain much easier. I am not sure we would have got to the top without them.
The group not only provides emotional support, but also information and advice on how to access appropriate social care and support.
I am immensely grateful that I live in a country where amazing help exists for families like mine. Yet professionals have budgets and tick boxes and alas rare undiagnosed genetic conditions often don’t find themselves on those lists.
In addition, having a development disorder carries an expectation that the disorder will improve and the children will continue to progress. When in reality what often happens is that development slows, then it plateaus. And the gap between peers gets greater and greater year on year.
Too many children with rare neurological genetic conditions also suffer the cruelty of regression – meaning that everything they have battled to gain in terms of skills can be stolen away from them.
As these complex children do not land in clinics or therapy rooms every day of the week, understanding of their long-term needs is limited and it massively affects our ability to obtain help.
We were turned down 18 months ago to start the process of house adaptions as the occupational therapist told us Gabriel could be “walking up the stairs next year”. He isn’t and he won’t be any time soon. In the meantime I have been laid up twice with a bad back. I have to wait for my husband to be home to now carry him up the stairs for changing and bathing. Thankfully, our application is now progressing again, but it felt like an unnecessary dance that we don’t have time or the energy to perform.
A report from our main healthcare professional might have hastened this process. Yet healthcare needs can often be disjointed too as most children like Gabriel are multisystem affected so fall under an array of specialists – with no one doctor coordinating it all in the way that our neonatologist once did.
The dark cloud of uncertainty is never too far away.
We have no diagnosis, therefore there is no prognosis. How Gabriel’s gene mutation will affect him as he gets older is currently a mystery.
The DDD investigators are continuing to process results for families and they aim to send everyone in the study a report by October this year.
To be honest I am as equally terrified to receive a diagnosis for Gabriel as I am to not get one.
I don’t want to live in limbo if we don’t get an answer this year and I feel exhausted just thinking of the battles ahead in terms of social care support without a name for Gabriel’s condition.
If a diagnosis comes it will be a rare one that might not even make much sense. It might bring more questions than answers and that might make us feel more isolated as a result. It might also tell me things that no one wants to hear about their child.
But it might also bring good news about his condition. It might confirm that his health will remain stable or even offer new treatment opportunities. It could help us understand him better.
For Gabe himself we need to keep pushing and looking for a diagnosis so he knows what has created the limitations in his body, so he can explain his own condition to people hopefully one day.
Our other children need to know whether the gene changes will affect them and their future children. A name will help them make sense more of the different world they will grow up in side-by-side with their beloved brother.
It will also bring some closure, much needed peace of mind and eliminate some of this fear of the unknown.
Documenting Gabriel’s progress will also aid generations of children with the same gene changes in the future. Their families will have access to the knowledge that we have craved since our boy crash landed into our lives five years ago.
I’d love nothing more than to stay in a bubble forever on this mountain top. If I am honest I actually don’t mind living here anymore. On sunny days when the view is clear and there is no wind, it feels like best place in the world.
But no one knows when a storm is going to arrive and sweep away all the stability you have worked hard to establish.
We families of children with undiagnosed conditions build our existence on shakier foundations so we need to be that much more prepared for the natural disasters.
We need access to the best equipment and technology that exists to help us get some idea of what lies ahead so we can prepare physically and mentally. For us this is genome testing.
Not getting a diagnosis is not really an option.
Not for anyone. Not anymore.
SWAN UK is an initiative of Genetic Alliance UK. SWAN UK offers support and information to families of children with undiagnosed genetic conditions. RDUK works extremely closely with SWAN UK.
If you’d like to find out more about SWAN UK or get in touch please email: firstname.lastname@example.org.
You can also check them out on social media: