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Guest post: "My son's diagnosis is the first of its kind – it's exhilarating and terrifying"

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MumsnetGuestPosts · 28/04/2016 16:43

One box on a form is never enough. There is no easy answer to the innocuous question "what's his diagnosis?" More of my son doesn't work than does: where do I start?

Before RD was born, I was naive, hopeful. There were no major signs of problems during my pregnancy. At 30 weeks I went for a supposedly routine growth scan; when they turned the scan screen away from me, for the first time I knew something wasn't right. Four days later my baby was delivered by emergency caesarean. The doctor's comment that they'd "got him out just in time" rung in my ears; how was it the right time when he was so tiny?

He was so weak and poorly for so long; at eight weeks we were told he had Congenital Nephrotic Syndrome. Genetic tests were being run, and soon we would know what type and the best course of treatment. But the tests showed nothing, and RD became frailer - so frail he was expected never to come home.

But he defied that, and began to grow. He came home. For a long time, his apparent delay in hitting milestones was brushed off as a result of prematurity. The genetic tests didn't show anything, so all we could do was hope for the best - despite the list of dysmorphic features heading every hospital letter.

I tried to bury my fears about my son, and pretend they were not becoming reality. But I couldn't continue to act as if our disability living allowance was just because he had a feeding tube. The delays had gone from moderate, to severe, to profound. As each stage progressed, I mourned the one passed.

At five years old, RD hasn't caught up. He has no recognisable words. He legs are like twiglets that don't support him.

We now know that he has Congenital Nephrotic Syndrome and Russell Silver Syndrome combined. These are both recognised in the world of rare disease. But this combination is due to a duplication of my chromosome 7, of which I have a gene fault. They know this fault to cause kidney and brain problems in mice - but this is a new diagnosis in humans. Over time they expect to find more cases, but for now my son forges the path. It is a diagnosis with no prognosis. This is in equal parts exhilarating and terrifying.

In some ways, having a label hasn't changed anything: RD is still RD. But there are times when having a diagnosis - or not having one - really matters. When a simple medication change left RD needing monthly hospitalisation due to gastric issues, and caused him to lose two kilograms of hard-won weight, doctors scrabbled around looking for the cause. Before we had the diagnosis of combined syndromes, it was assumed the problem was a degenerative metabolic condition. We were told to consider palliative options rather than a kidney transplant. By chance, we stopped the medication after a year. The gastric symptoms stopped. His personality returned. Without a clear idea of what was wrong with him, what was actually a reaction to a medicine has been mistaken for a neurodegenerative condition.

I was never ready to settle on a palliative option. I knew the child weakened and ill was not a true reflection of my son. So I fought. I fought for his right to be treated as a neuro-typical child. To be given the best chance of a long quality of life. So here he is, currently on dialysis with the view to transplantation in the near future.

Having a diagnosis also reassured us that any children my daughter had in the future would not be affected. This was so, so relieving. We entered into another pregnancy safe in the knowledge that this was unlikely to happen again.

Some days are harder than I could have ever imagined. When I have to hold my son down to let strangers prick and poke at him, I whisper in his ear so that I don't cry. When I catch a certain look in someone's eye, I know that in a split second they have judged him. They can't see all I've learned about him.

In the last five years I've learnt a lot. I've discovered the true definition of quality of life in RD. He tries with his whole. Everything he achieves is enough. When he loves, he loves with his entire being. He's a pure soul with the heart of a 90s raver: there are never enough flashing lights or tunes.

I have also learnt that we are not alone. We weren't alone when we were officially 'undiagnosed'. We found our tribe. Unconnected by symptoms and level of ability. Connected by a feeling of otherness, of feeling and finding our way through the unknown. And we are still as supported in this community now we have some answers as we were when we had so few.

SWAN UK has given us a safe space to ask questions, to learn from others' experiences, to share the highs and lows. It has offered invaluable signposting for getting the right access to support. Without a diagnosis, support was fragmented and hard to access, even when we were referred to services. Through SWAN I found out what assessments to ask for, how to go about finding the right education place. Being able to talk to parents in similar situations, both online and in person at SWAN's family days, has been invaluable, and has made what would otherwise be an incredibly isolating experience more bearable.

On the fourth Undiagnosed Children's Day on 29 April, we stand loud and proud to spread awareness. So that every family feels accepted and supported, and no family has to feel alone.

SWAN UK has a Big Ambition. They want to ensure all the 6000 families that have a child born with a Syndrome Without a Name every year have the support they need, and they want all these children to receive high quality coordinated care and support, regardless of diagnosis. They also want recognition that being Undiagnosed is not always a temporary stage.

You can support the Big Ambition via their JustGiving page or by texting SWAN11 to 70070, and if you're a family in need of support, do visit SWAN UK's website.

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havalina1 · 29/04/2016 10:20

I love your description of your son! I very much enjoyed reading your post, thank you for sharing it.

I heard about SWAN in the parents room on the children's ward through their flyers.

I hope your son continues to rave on!