5%

five-percent

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 come spilling out.

So, I’m sharing them with you.

You may’ve read about the day of Hannah’s diagnosis…when the room closed in on me and I felt that I’d never laugh again, never smile again and 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 empathise.  You may even relive that 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…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 here “Hello!” *waves enthusiastically* and who may’ve just 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 that’s gone a bit ‘Pete Tong’  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, could we?…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.

Melancholy 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…again!

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.

23-8-16-x-2-2

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.

So, I guess that’s all for now, my lovelies,

Thanks, as always, for stopping by

Until next time

Annie   xoxo

Now 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, I’ll spare you from any further waffle of mine and if you fancy having a read up on this gene stuff, here’s a link from the Centre for Genetics Education:

http://www.genetics.edu.au/Publications-and-Resources/Genetics-Fact-Sheets/FactSheetDNAGenesChromosomes

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

http://www.cdlsusa.org/research/genetic-information.htm

This post is dedicated to all the geneticists out there…I’m sure you find your car keys far quicker 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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8 Responses to 5%

  1. Jus says:

    You put down in writing all the feelings that I find hard to explain. Thank you for making us feel less alone. We are undiagnosed as yet. Those geneticists just have to get more clever than they already are. No letter through our door …. Yet. What a lot of saliva they needed!

  2. Hi,
    I’m leaving this as a comment here as I can’t find a way to email you… anyway, My name is Kristi Rieger Campbell, and I’ve been writing and advocating for special needs for a couple of years over at Finding Ninee.
    Recently, my friend Jen and I started a new site for parents who have kids with special needs, Break the Parenting Mold. Jen home schools and has been a part of the special needs community forever and now does blog design stuff at Beyond Blog Design.
    I think our readers will love your voice.
    Would you consider allowing us to run this post (or another if you prefer) on Break the Parenting Mold? Once you shoot us a yes, I’ll get you a published date.
    If so, please shoot us an email at hello (at) breaktheparentingmold (dot) com. SO hope to hear from you!

    • Hey Kristi! Thanks SO much for getting in touch. Erm…let me think about this *scratches head*…OF COURSE!!! I’d absolutely LOVE to be a part of new venture. Use 5% by all means. One of the most popular posts I’ve written though is “I See You” – find it on favourite posts…I suspect this will resonate with many of your readers. But use whatever you want. I shall also email you so you have my contact details. Looking forward to being published on your site! Annie xx

  3. I’m not sure if we’ve come across each other elsewhere (CDLS FB group?) but my son is 10 and had Cdls. I have recently started blogging and am hoping to maintain privacy on here from people in my ‘real life’. My blog is focused on addiction and mental health but I have posted a little bit about him. Anyway, I just wanted to say Hola! Hannah is lovely x

    • Hello you! Awh, thank you so much and thanks for stopping by and commenting. It means a lot. It’s good to connect with another CdLS mama ❤ Nipping over to visit your blog…and thanks for following! Happy blogging xx p.s. I'm sure our paths will cross at some point

  4. Lanvi.tran@gmail.com says:

    Hello there.
    I completely understand….I’m going through the same emotions. I cried just like and didn’t know why. I felt relief that I wasn’t to blame…but at the felt sad I had a diagnosis.
    Now what?

    • Hi! Thanks for stopping by and commenting – although I’m sad you’re feeling the same things I did. Now what? Well, I can’t give advice…but for me, I decided just to get on with life, not try and make sense of how I was feeling (I rarely make sense anyway!), go with the flow and make sure Hannah had the best life I could possibly give her. The diagnosis on a piece of paper doesn’t change who she is. My favourite motto is Per Aspera Ad Astra 🙂 xx

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