12 and a bit

12 and a bit

When people ask what’s “wrong” with Claudia I have a couple of replies – the simple one “it’s a chromosomal thing – what it mans is she’s basically like someone with Down Syndrome – only worse”

That’s quite straight forward and satisfying, especially for younger people.

But if people are older or interested I will – with my appalling lack of scientific insight or ability, launch into my little speech about chromosomes.

“You know how we all have 23 pairs of chromosomes, in every cell in our body – 23 perfect pairs – well sometimes they’re not so perfect.

Someone with Down Syndrome for instance, has 3 of number 21. So they have a pair of 1’s a pair of 2’s and so on – but when they got to number 21, they have three! So instead of a pair of 21’s they have a whole extra chromosome. That’s why it’s also called Trisomy 21. Because they have three of 21” They nod.

-”Well Claudia – she has two and a bit of number 12. So in every cell in her body she has pairs of every other chromosome – but her number 12, there’s two plus a bit more added onto one of the 12’s. So it’s a partial trisomy of chromosome 12. Does that make sense? ”

And people look at me with glazed eyes and ask “what’s that then?”

And the answer is, it’s not anything.

There is no syndrome associated with her exact duplication at the exact place where it’s duplicated and the exact same information repeated. It’s not common enough to be a condition or syndrome. She is UNIQUE.

Most of us walking around are the same ; 46xx or 46 xy, 46 chromosomes (23 pairs) plus the xx which makes us female – or the xy which make us male.

Claudia’s karyotype – (chromosome recipe or map – my own non-scientific words) is

46,XX,add(12)(p13.33)de novo ish dup(12)(p13.33p12.3)

Yeah! Bet you feel a bit dull with your 46xx or 46 xy now!

For every chromosome number there’s the potential for extra bits, bits dropped off, bits moved from other bits and jumped on the wrong chromosome and where those bits have jumped off and joined on or disappeared what genes were there and how damaged they are.

When there are common chromosome abnormalities, they can be lumped together with a syndrome or condition name, but the vast majority of anomalies are as unique as the individuals who live with them.

This week is Chromosome Disorder Awareness week.

“Unique” is a UK based charity which was, from the very start, the biggest source of support for us as a newly diagnosed family.

http://www.rarechromo.org/html/home.asp

If you visit their page you will see that they have built up a massive collection of members and information about chromosomes and their accompanying disorders. Over the years we have filled in surveys to add to their body of knowledge. If you care to search on their site for the document about 12p duplications you will see Claudia stars quite predominately!

http://www.rarechromo.org/html/DisorderGuides.asp

And if you know her , it’s not hard to guess which snippets of information are her.

Still, she’s a rare beast, chromosome 12 is not common and a map of characteristics and expected outcomes is still being built.

We are very happy to contribute and add to the body of knowledge. Because we know that’s what parents want and need – especially in those early paralyzing days of diagnosis.

One of the worst things that happened for us in that time, was the appalling comments from our (then) pediatrician.

17 years ago, very much less was known about these conditions than is now known, and our pediatrician was totally in the dark himself. But he didn’t want to admit it.

He sat across from us holding some printed pages and said “now, I’ve found some stuff about chromosome 12 on the internet. But it’s tough reading and I’m not going to show you”

Wait – what? ! Yes, he sat there, with “information” in his hands, which he declared he would not share. Pompous Ass.

Some of the information out there is not pretty reading, it’s upsetting and unsettling and depressing and overwhelming – but it is not for anyone to deny parents knowledge.

So Unique, with it’s clear information and straight up dialogue was such a great place for us to find information, comfort and a sense of family.

The monthly magazines included letters from families who were struggling with the same issues we were. The saddest reading was the RIP section at the back. But it was real.

Real knowledge, real support, useful, relevant and motivating. We were so excited to find Unique we rashly volunteered to be “New Zealand reps”

Over the years we have done nothing useful I can think of and thankfully today there are Facebook Pages for Unique centrally and country by country, so whatever we signed up for has probably been usurped by the connections of the world wide web and social media.

But Beverly from Unique did contact me recently, because of our change of address.

She asked for an update about Claudia – expressing surprise it that she is nearly 17.

That conversation (and the daunting potential task of writing an update for the Unique newsletter) was another reason I started this blog. There is too much to say to other parents in one letter. And too much gratitude to Unique and all the work they have been doing for all these years to thank them within their own forum.

So I’d like to thank them publicly and let you know about them – if you don’t already.

Chromosome Disorders are everywhere. Families like ours may have unique members and be members of Unique, but we are all in it together.

Please be aware this week