NARP typed Ataxia diagnosis

Hi All

Finally gotten my diagnosis !

NARP

Neuropathy Ataxia Retinopathy Pigmentosa = NARP type

Sheffield Professor Marios

Muscle biopsies

MRI scans blood cultures and nerve n muscle conduction tests

Have NARP lock stock and barrel

Plus am Diabetic type 1

My legs n arms are really tiny and am wasting away via my muscles

Have smaller legs n arms than a child

Was told whilst having my muscle biopsies done .

Exhausted easily daily !!

Even just doing one small thing a day

With my cousin like going a short walk to grab a coffee locally

So mito chondrial type =highly possible n most probably a ( rare typed one)

Am being tested for the correct type of this .

My ataxia plus the NARP typed was caused by me contracting German measles .

Infection caused... As a baby !

I started at 50years old with my symptoms

Lack of balance co -ordination extreme tiredness and worsening ears n eyes

Especially walking gait n balance is affected .

Plus my swallowing n speech skills has gradually become problematic.

Any drops or slopes or dips n steps

My brain simply can't self recognise nor brake or adjust to the environment changes .

I always need either my 4 wheel rollator or a persons arms to support me .

I am scared in the shower even though I sit and ensure someone else

Is at home whilst I use the shower

I hate the ataxia whilst having a shower

I have shower seat n grab rails etc

Balance n brain is wobbly n unstable etc

Scared of slipping or hurting myself !

Weight of clothes n coats is a concern

I need and prefer the "lighter" the clothes weight etc = the better for my bones .

Pain in my limbs is always with a painful prescence in them - especially my legs n feet !

Worse pains during night time hours.

Have to ensure am covered with pain relief or can't sleep well at all .

All sensory needs decreasing n worsening over time =last 5 years .

Am 55 this year 😳

It's a long road to face and cope with.

Progressive NARP and every damn day !!!

Just wish it would or could give me a break 😢

It's a lot to cope with each and every day.

Has anyone any help or tips etc ??

Thanks .

Anna29

2 Replies

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  • Hello Anna... it's been a while for you getting to where you are today... many days of uncertainty. But, now the uncertainty is over for you and they, the medics, can start to develop a tailored care package specific to exactly your form of this cursed illness.

    So, take care & keep battling :-) Cubby.

  • it took 5 years and countless docs to diagnose me with CA but I also have normal pressure hydrocephalus and an acoustic neuroma ( small brain tumour which affects balance ) I found the most useful advice for speech and swallowing problems was from the speech and language therapist - she gave me tips for swallowing safely- a list of foods to be careful of as well as exercises to improve my slurred speech. everything is very tiring - I did not get any problems until 2011 when I was 62 so I was lucky to get by without problems before. I go to 3 exercise classes a week as it is important to keep moving as much as possible, swimming is good too. I got very depressed and my GP referred me to mental health services. Keep an eye on your weight- I gained weight thriugh being less active as in wheelchair a lot. Good luck Sylviax

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