29th April 2016 sees the third annual Undiagnosed Childrens Day. This post joins a group of fabulous bloggers talking about SWAN (Syndromes Without A Name) UK.
Three doctors walked into a bar.
One from Leeds, one from Bradford, one from Airedale.
Then two dieticians walked into the bar too.
One from Leeds, one from Bradford.
Then three nurses walked in. A community one from Airedale, one from Bradford, and then, woah what’s this, a school nurse?
Oh and now a dialysis nurse. That’s exciting.
So, still with me. No long faces? Or frayed knots?
So this gaggle all bought us a drink. That’s nice isn’t it? Except they top shelved us. Northerners eh? Each drink was different. And we drank them all.
First couple and we’re all “wooh yeah, this is great. I get it now”. Before long we were confused, bleary eyed and crying for our mums.
So the savvy amongst you will have worked out that:
a) this is not a joke
b) it’s really not a joke
c) it’s a true story
d) sadly no drinks were actually involved
e) drinks are actually opinions
f) this is no reflection of all those professional’s personal lives
g) we actually have a LOT more doctors at the party.
The thing is, we aren’t alone in this. And despite now being classed as graduating RD from undiagnosed to diagnosed, I couldn’t tell you that we got anything more than a cap and gown. And we didn’t even get that. RD’s gene mutation has thus far been found in mice. Just mice. And I don’t think I’d take a drink from a vet, you don’t know where their hands have been, do you Herriot?
So we still have to say; Yes he has Russell Silver Syndrome. Yes he has Congenital Nephrotic Syndrome. He has that because of a uni parental duplication of chromosome 7 with a gene fault: MAGI2. Yes he’s profoundly delayed. No he can’t walk or talk. No, you won’t have heard of that before. We don’t know what it means apart from he’s currently writing what it means. And yes, that’s equal parts exhilarating and fucking terrifying.
I’d imagine you have that glazed look reading this now. Or perhaps a slight head tilt where you hear this parent, who just buys stuff for a living, trying to advocate that we have to prepare for the unexpected. Until you see it for yourself.
And no, no, our lost babies are completely unrelated to that.
Essentially wolf and I spend a lot of time trying to collect glasses. In between the usual parenting high jinx. And earning a living. And living some sort of life.
Here’s a more tangible experience. Today the OT for housing and adaptations visited. Now, she’s different to the OT for aids for living from the CDC (Child Development Centre) but that’s by the by. Two main issues for us and our Edwardian terrace: getting in the house and getting upstairs in the house. The first is fairly clear cut- his hurmunculous of a wheelchair does not go up steps or through two porch doors easily. The latter isn’t. Right now, you’d assume RD needs a through floor lift. But you know, that involves a lot of upheaval from his perfect annex bedroom and en suite now (I know. The Prince). A stairlift could be an option but he’s not showing enough transferring skills right now (weight bear and pivot).
We know two things from his diagnosis: he won’t ever be very big or heavy. The transplant, if successful, should massively improve his muscle tone and energy levels. But that’s those things in isolation. RD is the rub. So do we put in a through floor lift now, or wait and see. They say patience is a virtue…
Again, it’s down to wolf and I to coordinate. To canvas opinion. To investigate whether separating the two jobs would have an impact at a later date. I need a drink.
One of the key aims for SWAN UK is that every child and young person with a Syndrome Without A Name to receive high quality coordinated care both at home and in hospital whether they have a diagnosis or not.
Coordinated. And not by the parent carer.
Because 6000 babies are born every year without a diagnosis for their medical, developmental, or both challenges.
And I think maybe it was a doctor that told me money doesn’t grow on trees. So this needs awareness and it needs cash.
So, awareness. Please spread the word. SWAN UK is more than a support group, but the support there is absolutely vital.
Cash. Text SWAN11 to 70070 to donate or https://www.justgiving.com/swanuk/