rare disease day

Today is rare disease day and its good to get awareness out for mitochondrial disease which is rare and can cause problems for my muscles and my energy levels it also affects the organs, every bit of your body!

please pass on this blog to get more awareness out there for mito sufferers

PEG or not to PEG... that is the Q

Now ive been off my feed for almost a few months now, my mind started wondering if I cope with out my PEG button? 
Niggling feelings of normality without a PEG in and the voice of reality AKA mum pips in to say what would I do if I had a mito crash and cant swallow food? or medicine for that matter?

The PEG nurse when she last changed the button told mum if it ever did come out accidently they would probably leave it out since im a healthy weight and have coped without feeds for a few months and my depression medicine that goes through my PEG is being reduced to the point I don't need it anymore. although I still do need depression meds by mouth (pills t hat wont go through PEG)

Its certainly something to talk about when we next go to Newcastle in April, if the nutrition doc
feels I could do without it.
I do have some doubts thanks to mum when it comes to mito crashes I don't want to lose the weight Ive spent the last 8 years putting it on and although its stable at 10 stone it is still up and down and I still don't eat enough to keep me going.  (I just eat when im hungry)

If I did have it out  and I happened to lose weight also when I had my first tube PEG put in, it almost killed me and my mum has always said she wouldn't want to go through that again!  and I wouldn't want to wish that on anyone.
Watch this space...

after xmas gym...

i went back to gym after 2 weeks missing it first time my dad was off so victoira has no reason to come then last week my legs were so weak we decided to have a girl day in i felt strong enough to go this week but i only managed about 10 mins rather than 15 mins but it was my first time back so ill go for that lol hopefully when i get back into a routine  il get back to normal!

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. 

newcastle mito day with hearing loss focus group...

Last Friday I went to the Newcastle mitochondrial info day I went last year too and decided to go again as they have new news every year about mitochondrial disease and their research. This year they had a hearing focus group and I decided to go in that focus group as I went in the social networking group last year and me and a fellow mito friend gave out leaflets for our mito adult support group on facebook. it has  over 300 members now and it has helped a lot of adults with mitochondrial disease because on facebook most groups are based on children. Newcastle still had leaflets left over from last year and had them on the table of leaflets to hand out at this years info day!

This year I went in the hearing loss focus group which was interesting although they had one fact wrong which was the first cochlear implants came out in 1997 which was untrue because I got my first cochlear implant in 94 and my dad put the focus group leader right which was funny!

I also got to see some old and new friends that I talk to on facebook which is good since we all live in different places. Susan (co admin of mito adult support group) was there again this year and Catherine Feeny (mito secretary nurse of Doc Turnbull) wanted me and Susan to write an article of our lives with mito in Mito newsletter and tell people about why we set up the group for mito adults so I look forward to doing that!

Gym has taken a backseat for 2 weeks because of  a pain in the heel of my  right foot and we went to see my GP whos great with my mito history and she seems to think its related to my mito because of my feet flop forward when I lie down and relax they don't stay up like normal feet! It seems have got better with resting it and putting on the cream the GP gave us. See how that goes!

mitochondira awareness week

15th to 21st is Mitochondrial awareness week! 

 I want people to know that you probably know someone who has a Mito condition

there are so many different types such as diabetes  and strokes autism MS and many more!

This week is about raising awareness of it! as you know I talk about my own mitochondrial condition which is a rare type called Mitochondrial Multple DNA deletions and it affects people in different ways. I found out when I was 18 even though I went deaf at the age of 8 and no one knew why. Since finding out I have mito my life has changed a lot because its can be isolating with the fact that I couldn't cope with a job or going out with friends etc It also doesn't help that I am profoundly deaf from it which makes it harder to make friends. my confidence was beaten but over the years I have learnt to live with it and I can beat it! :)

I hope to pass this awareness on to bloggers and friends who read this blog because so many people suffer from it!

Gym...

O M G gym Is getting tougher I set my target of 30 mins on the treadmill but could only manage 15 mins before my legs and I was exhausted! But I will work my way up to it hopefully! I even went on my birthday coz I wanna get stronger! I went for an ice cream after it since it was a nice day. all in all it was a tiring day and couldn't wait for my bed!
THEN my mum decided to wake me up at 9 oclock to see if I wanted to go see nana in Middlesbrough... of course I love seeing my nana but then again I wanted to sleeeeeeep! at least I can have a longer lie in tomorrow! zzz...

Gym...

My neurologist Mr Turnbull wants me to carry on with gym and concentrate on sociable activities since everything else is doing well he wants me to do gym coz he doesn't want my muscles to seize up and so im also trying to meet new people through gym.

ive gone up to 11stone which is fine according to my dietician but she wants me to try and do more exercise and stick to 10stone so I need to lose some pounds

im starting off slow doing 15 mins on the treadmill and 10 mins on the cycle bike.
it might not sound like much not but il hopefully get better and start doing more and more as time goes on I only go on a Wednesday as I go with my carer Victoria which is good coz she spurs me on which is positive for me

heat wave!

Its been lovely weather here lately in UK but its a bit too much to take at times. Ever since I have put on weight up to 10st 13 pounds I find that I warm up more easily than I used to when I weighed less so the heat wave we are having is sending sweat everywhere on my body! When I weighed 8stone I could tolerate the heat easily but now I want rain and coolness in the air!!! I dread how im gonna sleep tonight coz these last few days ive had a touch of hayfever I think as I keep sneezing! im trying to keep as cool as possible having two showers a day and lots to drink!

dietician appointment...

yesterday i had the dietican come round to the house and we discussed my diet, last time i saw her she was trying to get me to put  ON weight because i was 9stone now im 11stone she wants me to lose a stone and stick to the 10 stone! i never know what the hell she awnts from me! first she wanted me to put on weight now she wants me to lose it i look healthy the way i am now but she argues that she doesnt want me to put any more pressure on my hips as it would affect my walking.  so im gonna have to ditch the sweets and crisps....wish me luck!