Anyway, it's not good. And that's a serious understatement , but I'm writing this update quickly whilst I'm not feeling too heavy hearted. She has a neurodegenerative mitochondrial disorder. The same one that I've mentioned so many times. The one I feared. The one that I was led to believe had been ruled out already. But the one that she just ticked ALL the boxes to:
Pyruvate dehydrogenase complex deficiency (PDCD). It's bleak. But she's here. She's doing ok. There's no cure. But 'therapeutic' options have been suggested.
Ironically the main one being the ketogenic diet! The same diet I've been asking her consultant about since she was one. The same diet, that after constant nagging on my part, her consultant finally agreed to referring us to the specialist in Oxford to discuss (his reluctance was based on how well hope has been doing without it). Fortunately I'm
Well armed with knowledge, I've bought the 5th edition of the ketogenic diet medical book and read and highlighted already.
Unfortunately my curiosity over the last 2 years has led me know too much about this disorder. But already I've gained a bit more positivity from a support group for parents of PDCD kids. I'm inspired by a little girl L and her mum. L is 9!
Her mum has fought hard to keep her. So will I!
She's called Hope for a reason. I won't let go!!!!!! I can't :"(
Hope has defied all odds so far, even though you have a name for her condition - it doesn't make any difference to how she is doing today or how she will do tomorrow x
ReplyDeleteKelly Dace x
Caroline I am so very very saddened to hear about this condition. I don't know what to say. I am glad you have joined a Support Group and that you can share information and speak to other parents who 'get it' and so on. I am also glad you know all about this diet which helps and that little Hope will be starting it shortly.
ReplyDeleteHope is so very very loved and such a happy little soul - this seems cruel beyond belief. I am thinking of you all and praying that she will continue to beat the odds and enjoy life and spread her love and light for many many years to come. I feel blessed to know you all and Hope is still an inspiration to us all every day. Sending lots of love & hugs (and some tears too - sorry!) from Rachel B & family xXx
Sending lots of love,
ReplyDeleteLisa O'Sullivan xx
not at all what i wanted to read. that darn mitochondrial disorder. in case you don't know...i've buried my head in the sand when it comes to kendall's muscle biopsy results.
ReplyDeleteshe seems to already be defying the odds. she looks so big and stonge...and developing so nicely.
anyway, sounds like you already knew in your heart, the diagnosis, so it doesn't change anything.
thinking of you.