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.

My Story

11 April 2012

research and genetic

Yesterday i recieved a letter from Prof turnbull about the reveiw of my muscle biopsy that igave in 2004 i was surprised they have any left!! ha
butt.. the long story short is that i now have a name for my conditon which is the name of the condtion i have been using for the last few years because thats what prof turnbull said i had in the first place! MIITOCHONDRIAL MUTLIPLE DNA DELTIONS  he went on to say that they continue to use my muscle biopsy and bloods to research WHY there are so many mutations in my DNA because i have several mutations in my mitorchondria cell which causees the condtion and made me deaf blah blah....
 but the sotry is we can tell the docs thats what i have GPs  or any new doctor i meet etc

They said they would carry on with the genetic testing of my mitochondira cell to find out to see if they can find a cure but this is painful work and may take years!  but i was born with this condtition and its not a death sentence for me unless i catch an chest infection again!!! 

i understand that there are different types of mito condtions which affect us all differently and we all get energyless and lethargic  thats why i set up the mito support group with susan warnock she helps me admin the group  and the group is getting more memebers every week! so we are pleased that we are helping people! we are going to give some leaflets out at the patient information day about the support group and we will both say a few words about it in our workshops because im going to the social netowrking workshop and susan is going to the fatgue wrokship so we can both mingle with people and tell them about the group! im pretty nervous about talking to everyone though!! because these wrokshops are VIDEOED for the newcastle mito website for people who missed the day.

 i am also in the midst of setting up a uk mito website because when i was diagnosed in 2003 at 18 i didnt have anywhere online to go and find information on my condtion. because i had been told i had this rare contiton i was born with and i didnt really have any support except for the hosptial and the hospitals website sooo with the help of my brothsers media skills and friends helping me with logos im setting up a website where people who are newly diagnosed to go to for supprot!

i hope to get this dont in the next couple of weeks so we can talk about it at the patint info day on 28th april!

So watch this space... hehe x
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