First the not quite so very good; Lung function was down, but only 5%, so nothing to start worrying about. And he has new medication, another to add to his already long list, but if it solves this tummy pain, we're smiling.
Now the good news; No further changes on chest X-ray. Diet praised by his dietician. Ultrasound fine. New physio trial to do (he can hook up his Acapella to a game on an iPhone, really cool, and should help focus and entertain him). Glucose tolerance test all groovy. Waiting on blood and dexa scan results. And..... He has no scoliosis (this has been suspected for a while, not necessarily CF related). Phew.
He was really really well today, lots of physio in clinic, and hardly a cough. The whole team seem really happy with him. He was chatty with our new psychologist too, which makes a change.
Now the fab news; Our favourite Consultant is very hopeful we can join a clinical trial for Ataluren within this year. Either here in Cambridge, or we transfer to care in London for the duration of the trial (a year). Ataluren is something I have been reading up on for as long as I can remember, and would be the first (and at the moment, only) drug that would work for Isaac that actually treats the underlying cause of CF;
In short, his gene mutation puts a stop sign on the end of an otherwise good message to produce the CFTR protein. This drug puts a blanket over that stop sign, so the protein is then made. This COULD be a game changer drug. And our boy will be in the trials! Too soon to be getting too excited, but it feels like really positive news. Instead of endless treatments for all his symptoms, imagine a single tablet that *could* halt the progression of his disease.... I'd be lieing if I said I wasn't a teeny bit excited about this.
So.... Happy happy day. Long old day, but we laughed so much. Then home to Dan, our lovely girls, and Obie shnobie. Love love love!
Have a great day all x
