It was back in June Hope had the muscle biopsy, I'd almost given up asking if there were any results, and was happy to bury my head in the sand. Certainly for the remainder of this year. Get Xmas out of the way. But on Wednesday, I opened a letter, addressed to Hope's consultant R, detailing the results and asking for him to break the news. No need since we seem to have unintentionally have been copied into the letter . Oh well
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 :"(
6 days ago