A Diagnosis Doesn’t Change Who Your Child Is

I’m feeling a bit weird right now.

(At this disclosure, I can almost hear my friends laughing and saying “No news there, then!” – thanks guys…I KNOW that’s why you love me *blows kisses*)

So, I’ve ditched what I was writing, because I feel the need to get these feelings and thoughts out.

Please bear with me and fear not, I’m not planning to get all sombre on you.  I don’t host pity parties at Broccoli HQ.  Parties, maybe.   But without the pity and with Prosecco!

Well, it’d be rude not to, wouldn’t it?

Anyway, Mr Postman delivered a letter to Broccoli HQ today.  With news of which I’ve been waiting for, for several years, in fact.

…it’s a REALLY good job I’m an incredibly patient person.

But when I opened it, I didn’t anticipate these feelings and thoughts I’m having to come spilling out so, I’m sharing them with you.

On the day of Hannah’s diagnosis, the room closed in on me and I felt I’d never laugh again, never smile again and that both Hannah’s life and mine – by this time SO inextricably linked – were literally over, with just these few words:

Hannah has Cornelia de Lange syndrome.

If you’ve ever had a diagnosis or unwelcome news of any sort, you’ll probably be able to empathize.  You may even remember your own cold, clammy, heart-stopping-moment when your world swiftly tilted and turned on its axis.

…and nothing was the same ever again.

And consequently, for me, the grieving and melancholy stuff kicked in for a while.  I needed to lick my wounds.  Soak all this stuff up.  I didn’t put a time scale on it. I just went with the flow. And then I decided that I could either (a) wallow in self-pity or blame myself (even though none of this was my fault…or anyone’s) for the rest of my life, get everyone to perpetually feel sorry for me *cringe* or (b) just get on with life, try and enjoy it as best I could and make sure Hannah felt loved and accepted and had the best of life that I could give her.

I chose the latter!

Sure, I still have the odd weepy moment/day, and no, I’m not depressed OR still grieving. It is what it is.  It’s called being human.

(For those of you who’re new to Cornelia de Lange Syndrome, “Hello!” *waves enthusiastically* and who’ve had a diagnosis like Hannah’s, please, please, PLEASE hang on.  Read my other posts.  It’s undoubtedly a rollercoaster we’re on, but I do smile and laugh and enjoy most of my life.  Just like you can do too!)

Current research tells us that CdLS (Cornelia de Lange Syndrome) can affect five genes (more may be found in the future, though) – the most common one usually being the one called NIPBL – which affects around 50% of people diagnosed.  It’s a complicated and pesky little bugger this syndrome, so looking for the one gene is like looking for a needle in a haystack…literally!  I can’t even find my car keys in my handbag sometimes, so I’d make a pretty rubbish geneticist, that’s for sure!

Hannah was initially diagnosed as having CdLS through her heart defect, cleft palate, skeletal abnormalities, gorgeousness (if I do say so myself!) but we needed to know the critter gene causing the problems and definitive confirmation that she did actually have CdLS and not something else.  So, Hannah’s blood was tested to see if her NIPBL gene had gone a bit haywire.

And guess what?

It wasn’t the NIPBL gene that’d caused her CdLS. *sigh*

Great.  Just great.  Just our luck, eh?

Even though this syndrome is rare, we couldn’t just slot into the 50% category. We just had to be different.

So it was back to the drawing board and this genetics testing costs an absolute arm and a leg! Thank God we still have our NHS…for the time being, that is.

But (thankfully!) we were then invited to participate in the DDD project – Deciphering Developmental Disorders – a massive study of thousands of people who were undiagnosed.  So saliva and bloods (ours and Hannah’s) were sent off to a laboratory somewhere and we were advised to wait.  There were no guarantees of anything coming back.

We waited….and we waited…and waited a bit more…and forgot about it…then remembered…then waited some more…until today.

The letter arrived.

So, apparently, my kid does have CdLS.  And the gene called SMC1A is the cause of all her bother.  Like I mentioned before, CdLS is rare…well, through this letter, this kid just got even rarer, because the SMC1A gene affects only around 5% of individuals with CdLS.

So, how did I feel/am I feeling?

Excited at receiving the letter marked clinical genetics service.  News awaited, hopefully!

Tentative on opening said letter.

dg-pinMelancholy on reading (yet again) Hannah’s name on the same page as Cornelia de Lange Syndrome.

Relieved that the root cause has been identified.

Reassured (although I never blamed myself or anyone else) that this is probably just a gene change that happened in Hannah for the first time.  I didn’t give it to her.  I didn’t inadvertently hurt her.  I couldn’t have done anything different or better.

Hopeful that maybe, one day, perhaps not in my lifetime though, but hopefully in Hannah’s, a cure will be found to help her and other people like her.

Doubtful that a cure will be found as, given it’s so rare, there won’t be any funding to do the research.

Tearful – I have absolutely NO idea why.  So I’m blaming my hormones.

Determined – because now I can hone in on this specific gene when doing my research.  I can learn more.  I really need to know more.

Scared – Because CdLS IS scary at times.

…and just a tiny bit sad and rubbish and OK about this (as OK as I’ll ever be about CdLS) and maybe a little bit meh, all rolled into one.

I know, that makes no sense whatsoever, does it?

So, my girl is a five percenter.  A rarer than rare little one.

That letter is a bit of a game changer.

But what it doesn’t ever change is that she’s Hannah.  Not a diagnosis.  She’s a real, constantly scruffy little kid who helped change the way I saw the world. For the better.

And whilst I may feel a bit rubbish right now, I’ll get over it.  I won’t wallow or grieve or any of that other business, because I’m thankful I have my girl, I’ll continue to hold her hand along at least some of her journey….and she will SHINE.

I’m no geneticist (you don’t say!), but I’ve done quite a lot of reading up since this syndrome came into our lives.  Nevertheless, if you fancy having a read up on this gene stuff, here’s a link from the Centre for Genetics Education

And here’s a link to the CdLS genetics info.

This post is dedicated to all the geneticists out there. I’m sure you find your car keys far more quickly than I do…and to all the professionals dedicated to changing the lives of people affected by CdLS for the better.  Thanks SO much for taking an interest and doing what you do.


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