Well today was the day. My first appointment at The National, Queens Square London. My Neurologist was amazing! Dare i say it but i think i have found the team who will find out exactly what is wrong!! He did a complete Nuro Exam, checked all my muscles and their strength and took a full history looked at all my previous tests and results, scans and biopsy's. He came to the conlusion that i do indeed have Myopathy, and the wasted muscles in my body which is mainly my legs, trunk, arms and breathing muscles are gone and I wont ever get them back. I was shocked how blunt he was but so greatful for his honesty. He has been the first doctor to say it how it is and i like that, it makes me more determind and know what to expect. I can also tell my OT and Physio at college that they dont need to make me stand in that painful standing frame to try and get me standing again, because it WONT WORK, whats gone is gone and i dont need to go through the pain any longer! Whooo!!!! Although i didnt mind it at the time becasue i thought it might help! So from now on Me, Hoists, electric wheelchairs, slide sheets and carers are going to become my best friends!
He told me that he thinks i have an underlying genetic disease / mutation of genes (I'm a mutant!) that is causing all my issues so he took litres of blood (haha not really but it looked like it) and im going to have an MRI scan of my leg muscles as they are the worst affected and he wanted to see me in his next available clinic space.... which is in 7 months!!! LOL
They were really good at taking my blood there, first go and they got it! i was amazed! usually takes at least 3 stabs! So overall a really good appointment. Sad that my fears we true but i knew deep down i was progressing but the honesty and compassion from the team encouraged me alot. Im also doing a little experiment for the Team. Becasue all my other doctors insisted my myopathy was from my treatment for my lungs - (i had a form of chemotherapy drug when i was very sick with my breathing and many high dose steroid infusions and now i have been on continuious steroiods for 2 years.) they insisted and would not take any other path into why i had a progressing muscle condition, just said it was 'myopathy caused by steroids' and left me to get on with it. This team are looking at me as a whole person, looking at all my conditions - the diabetes, the lungs, the muscles, the GI system, immune defiency, bones, my liver disease... and i could go on for hours! And i hope they will be the team who will put all the peices together and find the CAUSE, and not just treat each disease as i bloody get them!! So back to the point, im doing an experiment of coming off steroids completely and seeing how my muscles do, if i get worse then he was proven right, if i stay the same then all my other doctors are right. But of course i cant do this if it affects my breathing so i am going to have to be very careful and start the weaning slowly! I will prove him right though because i know deep down that my issues started way before any steroids touched me. And to be honest i cant wait to prove this! If a Expert in this feild agrees with me, and thinks its a genetic condition then We must be right ;)
Another great point that they said today was that if they find the cause, there may be a treatment to slow down progression, which i think is AMAZING! So i am a VERY VERY VERY happy bunny ;)
Thanks for reading my ramble!!! :)