respiratory help...

I had an appointment in halifax hospital only because huddersfield hospital cancelled their appointment to see about my respiratory muscles and see if need any help with.this. we met a dr Ting who was happy to meet someone so rare with the condition i have! He took my history down and my sleep pattern. l have been given another appointment for tests to see if i need any breathing apparatus at night.  i have been sleeping long hours being deaf nothing wakes me! i have also been getting more out of breath when it comes to going upstairs and walking more than 20 minutes has left me using my manual wheelchair 

Mito gene results...

Its that time of year again! the yearly visit to see Prof Turnbull and his team! We had to spread it over 2 days as my eye dr was on the Monday and then prof turnbull n team on Tuesday (dont ask why! i think its coz its in a whole other building!)the eye dr was worried mostly about my eyes being dry and gave us some gel to put in 4 times a day. we asked about maybe re putting in the brow suspension in the left eyelid but he said it wouldnt be worth doing as my eyelid muscle is weak.

3 years ago, me and my parents gave blood for a new test its been a long time waiting for it! in the hope we would have some results from that test and they did!   We knew that my parents were carriers but Prof Turnbull said it was very complicated and complex and he drew a diagram to help us haha but in hindsight i surprisingly k new most of what he meant as he tried to explain it. We now know  the name of my condition  as "mitochondrial disease RRM2B" It was a relief to finally have an actual name and gene! he told us it was one in 500,000 that i have this condition which was a bit shocking! i knew it would be rare but not that rare!

Other than that Prof Turnbull was worried about my breathing  which was making me tired and so he said maybe i will need help with that overnight as he was worried about me sleeping long hours.

He also noted that i had to be really careful not to break any bones if i ever fell over as that would be a disaster in the healing process.

He is also going to arrange for me to have some physio just to keep my muscles moving  

Found out about mitochondrial disease open day where i meet up with others who have the condition in October i always look forward to that!

wet room

Me and the family have opted for a wet room for me as my needs are becoming more common i find it hard to get off the toilet without grip bars and we are thinking of the future when it comes to bathing me we currently had a bath which i struggled to get out of so the wet room has taken over 2 weeks to do so we are lucky we have a 2nd toilet as the builders have been in bathroom! They have also given me a higher toilet to get off more easily when im having a mito attack  pics to come later  

kanso review

kanso review 

ive now my kanso for 2 or 3 weeks now and its just as good as the N5 it took a few goes for me to turn on and turn off manually (we had to go back to the ci centre as they forgot to put the automatic switch off setting on!)

Disposables last a good few days depending on how much you wear it and its really good to just switch it on and go.

ive had 3 programmes on my kanso to "play around" with. i have 3 programs on it 2 new maps. At first i had it on old map as that was i was used to but it seemed quieter than normal so i switched between 1 and 2 over the last 2 weeks which are louder and better and im surprised how quickly i adapted to the maps. i now find my old map quieter and hardly use it My only complaint was that the microphones are very sensitive and all i could hear was my hair at times but it gets quieter in the background when sounds are around. 

i have only used the accessory microphone once in my phone listening to the radio which was clear 

i havent had any problems with the kanso fallling off unless someone knocks it when hugging me! 

an advantage for me is i can wear earrings again without the back pin hitting the processor. its still really weird i keep going for my ear when taking it off and there!s nothing there! 

I get kanso on 17th February! Can't wait to try it out!

streaming eyes...

im not having a good day i havent been sleeping that well these last few days and now im paying for it with streaming eyes all day. i never used to get streaming eyes til i had the operation on my eyelids and it rarely happens but when it does its horrible i end up with tears running down face blurry eyesight and a runny nose. it feels like a cold but its not. im due to see patrick at newcastle hospital when we go next year til then Mum has to  put antibiotic cream in my eyes. ususally mum has some but we ran out!  Also im getting fed up of the nutrition team keep changing my peg feed tube and syringes and that we have to put a little needle type thing on to use it then we throw it away. dunno what was wrong with the old syringes!  

kanso cochlear implant

last week i was sent a letter from the cochlear implant centre saying i can upgrade up to the n6 and they gave me a choice of either going for the behind the ear or wireless kanso i had 7 days to do my homework and i was invited to Bradford to try the kanso and make my choice. 

i tried it on and asked my questions concerning it and i opted for the knnso as it suited me rather than the N6 i could wear ear rings again and wear glasses comfortably as they always clashed behind my ear with N5. I chose copper brown and sent off the letter. Now the waiting game begins til i get it! i am quite excited for it!  According to my brother hes interested in the bluetooth in it haha  i have made my choice to get the kanso i will receive it next year!

patient information day 2016

2 weeks ago me and the parents went to newcastle's patient information day 2016 which they do every year its  always interesting to get more information regarding mitochondrial disease and meet up with old and new friends who ive met via facebook!

it was at a hotel this time and felt quite posh as we had name tags round our necks with our names on which we have never done before so it was funny and i felt important! ha ha

this year i was interested in finding out more about the 3 parent IVF which involves taking the "disability" especially hereditary conditions such as mitochondria disease  as maybe one day i might need should i want children. 

i also met up with some friends who i contact via facebook and its good to  see them i had brought my knitted bags for one of my friends faye  who has Leigh's syndrome so she could sell them to raise money for a cure for mitochondira disease and also the lily foundation which i feel useful doing something rather just stay sitting at home all day doing nothing!

i do wish i could do more though but at least this way im doing something! 

cochlear check up 2016

I have been going well mito wise and every dr is happy for me for once haha l have a cochlear implant check up coming up since i haven't been for 5 yrs! will be good to have a check up and see if everything working as it should. i have been enjoying holidays with the family even if i do have to bring the wheel chair and meds with us!

newcastle appointment 2016

i forgot to update this blog with what happened at my appointment this year! ive been relaxing and doing my cross sttiching!

firstly i met up with susan another mito fighter from our chats online and ou mito support group on facebook as she was there at the same time.
i had my weight and bloods taken as usual. We saw doctor Gorman this year as professor turnbull wasnt available. we were asked if we preferred to see professor turnbull  but we had already booked our hotel for the day. we were hoping to get some genetics results from 2 years previously but they STILL didnt have them! i wondered how much longer we had to wait for them but they assured we WILL get them this year! i did the usual mental tests and talked about my diet and everything is good so far and they arre happy and i am happy! well almost happy it would have been good to have those blood tests results as we have been waititng for so long for them but another few weeks or months wont make any difference!