At five years old, my son Gabriel still can’t walk or talk and struggles with feeding. Yet I have no idea why. Despite a raft of testing taking place over three years he remains undiagnosed. A rare genetic condition is suspected as the unifying cause for his multi-system medical issues that range from minor cardiac abnormalities to growth hormone deficiency.
It can be difficult facing an unknown future where the path your son is taking is literally unchartered. He is writing his own book, a thrilling page turner at times and a bit mundane in places, and all you can do is hope it is one with a happy ending.
He is not alone. There are 6000 disabled children born every year with a syndrome without a name.
As one of many SWAN mums, here are a few things I have learnt:
Feelings of isolation are common
In a recent survey conducted by SWAN UK, 75% of parents said raising a child with an undiagnosed genetic condition was ‘isolating.’ The words ‘frustrated’ and ‘lonely’ also came up a lot as did “anxiety, low mood and depression”. There is no shame in feeling like this. It is a hard journey and one you have to undertake alone. Friends will find it difficult to understand, no matter how supportive they are. Even amongst support groups – undiagnosed children are so diverse that quality of life issues that massively affect one might be a blip on the radar for another. This is why it is important to find families with similar children to not only support each other in the dark times, but to laugh out loud together in the good. Interestingly, 93% of respondents to the survey said they felt less isolated since joining SWAN UK.
It does get easier. It does
In the first few years of testing I was a wreck. I hated everything that was happening to us and would spend many hours crying in the shower (where no one could see me). The depth of my despair was overwhelming at times. I was convinced my child was going to die. How could I deal with that? Also I didn’t think I had it in me to raise a child with a disability. Thoughts like: “But he’ll never have a girlfriend” used to consume me. Then slowly the sand shifted and things got easier. Life has a habit of chugging back on. The 20 hospitals appointments a month became 2 or 3. Therapy sessions are now largely done in school. Gabriel is just Gabriel and I wouldn’t swap him for the world. And girlfriends are overrated.
We can leave no stone unturned
Some days I don’t want a diagnosis. It is nice living in a bubble and thinking the world can never touch you. That piece of paper with a name for my child’s syndrome will also come with a potentially frightening prognosis. The thing is we need to keep pushing to find out what is “wrong”. He has two siblings and they have the right to know if it will affect their children. As Gabriel gets older and understands more he too needs to know what is causing the limitations in his body. We, his parents, need it too. For closure – so we can keep moving forward. The reality though is being ‘undiagnosed’ is not always a temporary stage, the genetic cause of some conditions may never be known.
Genetics is not easily understood
In some ways life was easier in the testing stage when we could say to people that our child had heart problems. It is something that people can latch on to that conveys the seriousness of the situation, but still offers promise of medical intervention and hope for the future. Now that his cardiac issues are stable and we know it is a rare genetic mutation that is causing his delays, the notion of “what is wrong?” is a lot more vaguer. It is hard for me to get my head around genetic arrays and genome testing , let alone try to explain the processes to family and friends. The best way I suppose is to say that if Gabriel was a book, the first stage of testing was checking to see if whole sentences or paragraphs in his DNA had been copied or deleted. Now we are looking and testing the the exact order of the letters. Are you still with me? No falling asleep at the back!
Access to support is harder
With no label, it is often harder to access social care support for your family as your child does not fit easily into a tick box on their forms. There is also an underlying assumption that your child will catch up when in reality the gap between them and their peers is likely to get larger each year. The “maybe he will grow out of it” comments make you want to rip your teeth out in frustration. In addition, care can often be spread across a number of hospitals . We currently access 10 consultants across three hospitals as well as a physiotherapist, dietician and speech and language therapy (and that is not a lot compared to others). It is important that care is co-ordinated so “small stuff” is not therefore missed. Lack of diagnosis again can be a barrier to this. This is why SWAN UK made the theme of this year’s Undiagnosed Children’s Awareness Day “The Big Ambition” - that is to ensure every family has the support they need, when they need it.
It is not easy raising children with special needs and one that lives under the shadow of an unknown disorder can bring extra pressures. But, I will add this: even those children with some of the worst predicted outcomes have surprised the life out of us all.
And they continue to do this every day.