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Multiple mitochondrial DNA deletions July 31, 2008

Posted by loz121 in Uncategorized.
In Summer 2004, I went to my appointment with my parents at Bradford and Mr Busby told us that I had “Multiple mitochondrial DNA deletions” a condition that affects my muscles and my energy genes.

He explained that it was the cause of my profound deafness, my fussiness with food was down to the fact I chose easier foods to eat because of my swallowing. It also affects my muscles and energy levels leaving me tired at times.
The ear infection I had in my right ear was down to the fact I wasn’t getting the right nutrients from the foods I was eating and my droopy eyelids were also a factor of the condition.
The main factor was my weight and how I could never put any on and after the month I had in hospital at Christmas, my weight was 6st and I was left very skinny for my age of 18.
I worried if I couldn’t put the weight back on and look a bit healthier.

The sample of my muscle biopsy Mr Busby had sent to Newcastle told us I may have had it since birth. Mr Busby thought it would be worth going to see Professor Turnbull, the top doc of my condition at Royal Victoria Infirmary at Newcastle upon Tyne and made an appointment for me to go see him
I had never been to Newcastle before and it was 3 hours from where we live! Quite a way to go to see a doctor for an appointment but Mr Busby assured us we would still be seeing himself between appointments at Newcastle for checkups.
So in May 2004 went up to Newcastle Victoria Infirmaty. We went to Metro Centre for a break and refreshments. Having got lost on the way to the hospital, we were slightly late for our appointment! We had never been in to the city centre of Newcastle before but my dad who is a wagon driver was very capable of finding it! We went in and met Mr Tunrbull, who was very nice and friendly. Mr Turnbull asked us a lot of questions regarding our family history like the fact my brother didn’t have the condition, he also told us more about the condition I had. He sent me for a blood test which was right accross the other side of the hospital and came back to Mr Turnbull. He told us that it was very rare that someone of my age (20) was showing the signs of Multiple mitochondrial DNA deletions as this doesnt happen til you are in your 40s, It was all very intresting to know.



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