Its that time of year again! the yearly visit to see Prof Turnbull and his team! We had to spread it over 2 days as my eye dr was on the Monday and then prof turnbull n team on Tuesday (dont ask why! i think its coz its in a whole other building!)the eye dr was worried mostly about my eyes being dry and gave us some gel to put in 4 times a day. we asked about maybe re putting in the brow suspension in the left eyelid but he said it wouldnt be worth doing as my eyelid muscle is weak.
3 years ago, me and my parents gave blood for a new test its been a long time waiting for it! in the hope we would have some results from that test and they did! We knew that my parents were carriers but Prof Turnbull said it was very complicated and complex and he drew a diagram to help us haha but in hindsight i surprisingly k new most of what he meant as he tried to explain it. We now know the name of my condition as "mitochondrial disease RRM2B" It was a relief to finally have an actual name and gene! he told us it was one in 500,000 that i have this condition which was a bit shocking! i knew it would be rare but not that rare!
Other than that Prof Turnbull was worried about my breathing which was making me tired and so he said maybe i will need help with that overnight as he was worried about me sleeping long hours.
He also noted that i had to be really careful not to break any bones if i ever fell over as that would be a disaster in the healing process.
He is also going to arrange for me to have some physio just to keep my muscles moving
Found out about mitochondrial disease open day where i meet up with others who have the condition in October i always look forward to that!