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Ami Q&A: Rare Diseases

Pippa_AlumniPippa_Alumni Scope alumni Posts: 5,851 Disability Gamechanger
edited February 2019 in Guest blogs
Ami ( @Ami2301 ) is one of our Community Champions on the online community, in this Q&A she talks about her experiences with rare diseases (and shares some life hacks!)

Person Holding Red Hot Compress on belly

Thanks for talking with us Ami! I’m sure most of our community know you already, but would you like to introduce yourself?

Thank you for this opportunity! I'm Ami, I am 24 years old and getting married in September. I have hearing difficulties, central vision loss, Ataxia, Transverse Myelitis and a few other conditions.

You’ve shared your experiences as somebody with a rare disease here on the community. Could you tell us a bit about your condition and how you came to be diagnosed with it?

Transverse Myelitis is a rare neurological condition which affects the spinal cord. The spinal cord becomes inflamed and the myelin sheath (fatty tissue) which surrounds the spinal cord, is damaged. Depending on the severity and the area that is affected, of the spinal cord, it can leave a devastating impact, such as losing all mobility. The cervical (neck) and thoracic (upper torso) section were affected which made me lose all ability to move my head, move my arms and legs, sit up, stand and walk.

Shortly before being hospitalised, I underwent a series of tests and MRI's to hopefully find out why my mobility was deteriorating. It wasn't until during a physiotherapy session, roughly 2 months after having these tests that I was told my spinal cord was inflamed - Transverse Myelitis. The onset of  Transverse Myelitis includes numbness and tingling spreading throughout the body, changes in sensation, for example when you put on latex gloves and feel the inside of them, imagine that constantly but without the gloves - it's really bizarre!

How did it feel to receive your diagnosis and find out your condition was rare?

As I have mentioned above, I found out during a physiotherapy session. At the most, I have had my tonsils and rib muscles inflamed, but finding out my spinal cord was inflamed? That was definitely a shock to the system, I was terrified!

I had never heard of the condition before, it wasn't until I was a in-patient at a specialist neurological rehabilitation centre that I found out more about it. To begin with, I felt so isolated because nobody else had heard of it, that I know.

How are things at the moment? Do you have any tricks or life hacks you use on a daily basis that you can share?

Life is good, it's not completely impossible. I don't know any tricks myself however if anyone has Transverse Myelitis then I would strongly recommend intensive physiotherapy to help regain mobility and occupational therapy to help overcome obstacles of daily living - they are the best to offer life hacks!

Many of our community members are in the process of being diagnosed with a rare condition, or a syndrome without a name (SWAN). What advice would you give to them?

Don't give up, keep fighting! It is a scary process but there is support out there. It is important to raise awareness of these conditions which could potentially help in finding others, like yourself, increasing research for a cure or treatment.

What’s one thing you would like people to know about life with a rare disease? 

The difficulty in adapting to our condition - it cant happen overnight, but it can take months and even years to adjust. The emotional process during this time,  respect both our highs and lows. Please don't treat us any different, we just wish to be treated equally.

For more information on Transverse myelitis, please visit the Brain and Spine Foundation.

Do you have a rare disease? Please comment below and share your experiences.


  • Ami2301Ami2301 Community Co-Production Group Posts: 7,760 Disability Gamechanger
    Thank you for the opportunity 😊
    Disability Gamechanger - 2019
  • Antonia_AlumniAntonia_Alumni Scope alumni Posts: 1,781 Pioneering
    You're welcome @Ami2301 , thank you for taking part in this! ;)
  • Murphy1926Murphy1926 Member Posts: 36 Listener
    Hi.dont think mine is very rare but I haven't met anyone over the years with the disease I have.ive got vestibular nerve damage from having a drug to cure the 1960s.hearing loss and very poor balance due to the treatment but never found out untill many years later when ENT consultant took time to look back on hospital  records due to me being referred many was a relief to be told finally what it was from years of not knowing and having this frighting disease which dominated my life. Growing up from the age of 11 when i had the treatment  having these episodes there was no information  passed on to my parents at the time as I suppose it was fairly new drug that was used to save lives.
  • Ami2301Ami2301 Community Co-Production Group Posts: 7,760 Disability Gamechanger
    Sorry to hear about your experience @Murphy1926 however thank you for sharing this with us. Is there any treatment available? 
    Disability Gamechanger - 2019
  • Murphy1926Murphy1926 Member Posts: 36 Listener
    Thanks ami no there's no treatment permanent damage to the nerves I've got hearing aid but it's mostly the balance issues I have that cause problems and coordination.
  • Ami2301Ami2301 Community Co-Production Group Posts: 7,760 Disability Gamechanger
    I have severe nerve damage in various parts of my body which can be painful at times. Physiotherapy and occupational therapy have helped massively and improved my balance and coordination. Has your GP or consultant recommended these therapies?
    Disability Gamechanger - 2019
  • Murphy1926Murphy1926 Member Posts: 36 Listener
    Hi can't have any physio and I have cervical spondylosis which can worsen the condition and make me more dizzy as this it's self causes balance problems as well.ive now colonized psuedomonas in my lung which is causing me glad your physio helped you hope your feeling better 
  • Ami2301Ami2301 Community Co-Production Group Posts: 7,760 Disability Gamechanger
    Thank you @Murphy1926 I am sorry that they cannot offer you any therapy. If you ever would like to talk, we are always here :)
    Disability Gamechanger - 2019
  • Murphy1926Murphy1926 Member Posts: 36 Listener
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