A journey of life with Deafness,Cochlear Implants and a mitochondrial condtion.
Welcome To My Blog...
This blog follows my journey of 2 different cochlear implants and my condition: Multiple mitochondrial DNA deletions I have started this blog 15 yrs too late but ill try my best to fit it all in! I have packed a lot of medical jargon into my life since I was 8.
There has been happiness and tears but I've come through it all with my family and my friends.I'm profoundly deaf as a result of a condition called Multiple mitochondrial DNA deletions or mitochondrial disease RRM2B as my professor Sir Dough Turnbull calls it! I have had since birth but I didn't find out this til I was 19. I have had 2 cochlear implants (at the age of 8 and then i lost the 1st cochlear implant in my right ear after 7 years due to a bad, accruing ear infection (which I couldnt fight off because of my mitochondrial condition) at the age of 15 and had a 2nd one implanted in my left ear that same year which I have now.
There has been happiness and tears but I've come through it all with my family and my friends.I'm profoundly deaf as a result of a condition called Multiple mitochondrial DNA deletions or mitochondrial disease RRM2B as my professor Sir Dough Turnbull calls it! I have had since birth but I didn't find out this til I was 19. I have had 2 cochlear implants (at the age of 8 and then i lost the 1st cochlear implant in my right ear after 7 years due to a bad, accruing ear infection (which I couldnt fight off because of my mitochondrial condition) at the age of 15 and had a 2nd one implanted in my left ear that same year which I have now.
My Story
27 November 2013
Genetic testing...
We received a call yesterday from Newcastle hospital and they said one of the doctors on Professor turnbull's team saying that they wanted some blood from me and my parents urgently because they want to get started on the genetic testing although there was no chance we could get up there before xmas it's 3 hours away and all the ! so they are coming to Huddersfield to take blood from me and parents and get them straight in the lab! We will probably get the result next year when I have my annual appointment with Prof Turnbull. They said that i was the best candidate for this type of research. I cant wait to get the results and see if theres anything in the genes because none of my family have mitochondrial disease! They dont know if it is coming from my muscles or my bones or genes etc... they said it could be from both parents or just one and maybe a completely new mitochondrial condition either way Prof Turnbull wants to know why am i like this.
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2 comments:
I am interested in hearing about your results.. my deafness is due to a totally different problem..
i probably wont get results til i go back to newcastle in the springtime as blood testing can take time but i will publish the results on here
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