Ladies Camera Club

4 Dec 2012

Things are happening

For 7 years I have blogged, quite often, the ins and outs of Ellie's hospital trip and investigations to try and understand what her condition is.  That's 7 years to you but 17 years to us, obviously.  Ive often told myself its a thankless task but when your child has something so rare and so strange, you need to get to the bottom of it.  Its what Mums do.

Taken in August 2011, aged 15 - one of my favourite, previously unshared images of her

The pain, the rolled eyes and the diversions in conversions with friends and, sadly, family have been bloody annoying over the years;  a bit of empathy might have come in handy.  I reckon they see my plight as one of desperation and neediness.  I have resented this for so long about how the obvious is treated as taboo when all I want to do it get it out of my system.  When people see or meet Ellie, they see her in snapshot form but they could never know how incredibly difficult it is to live with a situation that you cannot control because there is no support system for undiagnosed kids. Or even have people sit and listen to the heartache without them literally turning their backs or diverting the conversation when the flood gates open.  Brutal but true.

Deep down, mind, I know in my heart of hearts that I have been doing the right thing.  And this week we may have unlocked the key.

We received a call from Ellies specialist on Friday who says he has been in touch with another Neurospecialist in the country and they have discovered a child with characteristics that Ellie displays.  At the same time, I told him that we have been in receipt of a microarray result which could help get to the bottom of the investigation.  I have been reluctant to share it with him as the tests came from the USA.  I think he has an aversion to outside help!  However, when I braved myself to tell him, he was anxious to see them.  And at the same time ordered us to get bloods from Ellie to run another test to match with the other childs results.

Interestingly, the microarray studies from the USA show that Ellie has a combination of duplications and deletions in chromosomes 4, 22 and X.  The duplications in 4 point to facioscapulohumeral muscular dystrophy.  The deletions in 22 point to Chr 22q11 syndrome and the X duplications in xq28 outline some weird and wonderful sentences that include respiratory organogenesis and impaired granzyme b (yeah - I have no idea, either).  Some of the characteristics of these findings also show development delays, heart defects, eating problems and autism - all of which Ellie has relations with.

I hope to god that there is a breakthrough so that I can confidently approach the right people for guidance and most of all, have people show some belief and understanding into why this has been so important to us.  Ellie deserves an identity and its my job to help her discover it, own it and deal with it.

**alights my 34276574263576257 medical dram soapbox and hope its one of the last times**

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Anonymous said...

good news in as much as they might be able to identify something which might help. Whatever it is Ellie is a person and wont or shouldnt by whoever it is be identified as a young adult with ....condition/s. She is a person and one who needs to be supported to be independent, with a lifestyle and carers [ emplyed] to maximise her independent living as a young adult in society. I am sure this is what you are working towards amist your emotions and heartache. wishing her well as she faces a lot of pain as they look again at why she has such limitations and isolation from her peeers and abilities because of it all. Wishing her well.

Anne said...

Just listening and wanting to you to know I am thinking of Ellie and you.

Anne said...

Dear lady, know that I am listening and sending supportive, good thoughts to Ellie and you. So a hard road... I know.

PaperDaisies said...

Kirsty, that's fantastic news. I have followed your blog with interest. I hope Ellie finally gets what she deserves and is entitled to. Thanks again for sharing your ups and downs. It can't always have been easy over the years. There's a lot of us out here in blog land that support you and are not troll like. Keep your chin up and just carry on doing what you are doing sooooo well. Loving your daughter. Hugs Nina

Anonymous said...

When I got to the end of this I realised I had stopped breathing! I do so hope that this is the breakthrough you need. Huge ((((hugs))) for all of you. And if you ever need anyone to talk to.... Jude.x

Jaki Morris said...

I have only one thing to say:

I hear ya and I would NEVER turn my back on you both as I love ya


Anita said...

Finally. I hope this means you will get the answers you need. Sending hope and wishes. x

Sue said...

I hope the specialist can get to the bottom of it all. Sounds like the UIS tests have certainly pointed towards a more definite diagnosis.

Carolyn Phillips said...

So glad that things are finally happening now. Hope they come up with some definite ideas and not just 'a chromosomal issue'.

Ali said...

Oh I *so* help that this leads to a diagnosis for you. I've always read your updates about Ellie with interest and with a growing sense of frustration on your behalf that you can't access any help for Ellie, or for you, just because she doesn't fit into a pigeonhole. Even though it's clear to anyone with a brain that she has issues which require support, she can't get it just because you can't definitively say what causes those issues. Ridiculous. I have everything crossed for you that a diagnosis is on the horizon!


Anonymous said...

I think people don't want to know because the things you are telling them shine a light on their own inadequacies at dealing with such complex problems. The trouble with 'people' is that they feel they have to offer a solution when really all we need is someone to listen, right? I sometimes think on some level people feel uncomfortable with knowing you have a something major to deal with, it maybe makes their problems seem somehow insignificant?

Anyway I am glad for the three of you that there is some hope on the horizon and that it will open up a world of possibilities,

Colette x.

Anonymous said...

Oh that the fairy La La Land that Anon imagines actually existed - how much more beautiful the world would be. Thank you Kirsty for writing from the heart (your huge and wonderful heart) about the reality of life for families with undiagnosed kids and your unceasing capacity to stay strong throughout it all. You are an inspiration! And that photo of Belle is utterly beautiful!
Love NinaB xxx

Shirley Davis said...

I think I've followed your story for about 4-5 years, maybe longer and I have NEVER doubted your truth - sadly, photos of Ellie are enough 'proof'.

You know I have MS; this took 11 years to be scientifically diagnosed (following an earlier clinical diagnosis - they are different things), at which point I'd had it for over 25 years. All the while, my hospital notes held the truth from me.

My point is, I am so glad you've now found a specialist who knows how important a 'label' is. Today's society expects to have these names so that identification and corrective and financial help can be applied.

So, anon, here you are again - don't you think Kirsty has treated Ellie with respect and individuality all her life? I read the words here of a very proud Mum who is desperate to ensure Life will be fair and loving towards her daughter - but knows the limitations that have to be faced, so the family can then make the correct provisions.

A long response to a complex situation but, above all things, there is Love. Plenty of it!

Liz Boyce said...

I hope you can (FINALLY) get some answers. I can't imagine how difficult this is for your family. I know I've never met you, and really have no association with you whatsoever, but I often wonder how Ellie is doing. I hope that's not creepy. :)

Catriona said...

You keep greetin' ,bleating and shouting it aloud- we can take it Kirsty! Hope this ray of good news makes all your persistence worthwhile to get help for Ellie ans support for your whole family.
Well done on the success of your business-you are one ssssssuper woman!

Jen said...

Oh Kirsty, I've been so happy for you since I saw the message on Fb. I didn't know about the genetic results from the USA. That's so interesting! Even if there isn't a NAME to her condition, that is a kind of diagnosis, in a way. I do hope the doctors will take more note now, and this is just the start. As you know, I work with some amazing, wonderful doctors, but they don't have all the answers and sometimes that is so frustrating for their patients. I wish you and Belles all the best in the world! Lots of love xxx

Anonymous said...

I totally understand your need to know Kirsty - I know where you are coming from. I am so pleased you nearer the explanations more now than you have ever been.
Love to you all.
Jan x

ginny c said...

glad you might be getting some answers at last cant have been easy for you over the years hugs to you all...ginny

Bettyann said...

Just listening and sending you love and good wishes...keep up the good fight !!!

Judi said...

Beautiful photo of a beautiful young lady.

So glad that it finally looks like your hard work and persistence is paying off. I hope you get the answers you need now and at long last are on the way to getting a diagnosis. Thinking of you.

Love Judi xx

Debo said...

It's incredible to think that people -especially friends and family- can be so unsupportive when you have needed to talk!
Obviously, a diagnosis will not define Ellie (anon!) but it will be like the magic secret password that will open the door to the support that she is (rightly) entitled to! Ellie is one incredible, beautiful, amazing young woman - and we all know where she gets it from!!

We're all behind you, Kirsty! You rant as much as you want/need!

Love and fingers crossed,

Kirsty Wiseman said...

You live and support, dear blog readers, is overwhelming. Blogging is a way of up heaving my thoughts and emptying ny head before bed. It's s founding board, a way to release pressure regardless of whether it is read or not. But to have it acknowledged by your support is humbling.
Loves ya
Kirsty x

Kirsty Wiseman said...

Sorry about typos!