Guest post: "My son's diagnosis is the first of its kind – it's exhilarating and terrifying"
Are You Kiddingney
Posted on: Thu 28-Apr-16 16:43:26
(23 comments )
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.
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 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 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.
By Elizabeth Dimelow
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!
Thank you for bringing this to the forefront. I can't imagine how it feels to be moving through such uncharted waters.
A very moving and interesting post. Thank you for sharing your experiences. Your son sounds wonderful (loved your description of his "raver" heart😊).
Best of luck to you and your family.
I love the description of your son. Thank you for sharing this moving post
Thankyou all for your lovely comments! He's currently conducting a Friday rave at school. They call it "sensory morning" xx
My 5 year old nephew has Russell Silver Syndrome, combined with Hydrocephalus. We were told he'd never walk or talk, but thankfully he can do both (although walking for any distance is a challenge)
He has a feeding tube, and anytime he tries solid food, he will vomit. Hospital are talking about taking out his gag reflex altogether as he desperately needs more nutrients. But he's such a happy little boy, and so intelligent.
It must be difficult to be going through this, but I absolutely adore your amazing outlook and beautiful description of your little boy.
Beautifully expressed - made me cry. Thank you for sharing your experiences.
Power to you and your little raver
never enough flashing lights or tunes
Lovely post. Thanks for sharing.
I have a SWAN. Is there a board on mumsnet where other mothers of SWANs support each other/answer questions etc? I've never been able to find one, and have looked every now and then.
Hi AlexandraEiffel, there's a public SWAN FB group, and a private one. If you look on the SWAN website there are details about joining SWAN which gives you access to the private group. Hope to see you there soon x
As ever, beautiful writing my lovely. RD is a legend in his own right and continues to make his legions of fans smile whenever you post on FB or your blog about him.
Much love to you all in your new fight for his transplant and the ongoing trauma of dialysis.
From your friend in the south (who took a photo of you dancing to Agadoo)
That could be a lot of people N 😘
Love a bit of agadoo. Thankyou sweetie x
A lovely post.
I have a SWAN too.
We used to have an ongoing thread on SN Children, that was called variations on 'The bumpy road to diagnosis.....' I know some of us from that thread now post on the SWAN FB forum. If you started an ongoing thread, I am sure others would join in
Lovely post. SWAN sounds like a great organisation. Beautiful boy you have.
Beautiful post. I cannot imagine what you go through every day but RD sounds amazing. I'm too old to have been a 90s raver but love that description of him.
Here's to many more raves for RD.
What a beautiful and heartfelt post. I have read your words with tears in my eyes - tears of understanding (as my son with profound special needs still remains 'undiagnosed), tears of sympathy (the frustration, the questions, the fury, the love) and tears of joy(I can only hope and pray that we discover the bones of my sons condition and a way forwards). However unique the diagnosis, I hope this paves the way not only for your son and your future coping and happiness together, but also for others. Much love xx
Wow amazing to read this. Tons of luck and love to you all - keep on raving
Our DS is a graduate SWAN he was dx with a rare gene mutation late last year ... There are 35 kids world wide and it looks like DS is on the worse end of the condition.
He has been dx with ASD, SPD, arthrogryposis, CP, epilepsy for years.
The dx changed nothing! Although we knew it wasn't life limiting.
Thanks to the Deciphering Developmental Delays (DDD) ... It took 6 years for our dx.
I'm now trying to guess which SWAN mummy you are!!!
I'm blown away by all your lovely comments, thankyou x
Special shout out to the others fighting the good fight xx
I know two women whose children are under the umbrella of SWAN. Your post really moved me.
I will most certainly be donating.
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