Rare Disease Day 2016 – My Story


Myasthenia is a medical term for muscle weakness.
Myasthenia Gravis is an autoimmune condition while Congenital Myasthenia is a genetic one. Both of them cause issues with muscle strength, fatigue, breathing, etc.
I’m ‘lucky’ enough to have the latter one, as well as congenital myopathy and spina bifida occulta; the genetic gift without the superpowers.
It looks pretty likely that Mackenzie, my 8 year old, has it too; Nathaniel, my 6 year old, is probably a carrier; both of them (and me) have to wear wrists bands identifying them as having ‘Malignant Hyperthermia’ which is a disease that causes a fast rise in body temperature and severe muscle contractions when someone with the disease gets general anesthesia. It can be fatal; it killed me when I first had surgery but I was lucky enough to have some pretty brilliant doctors who brought me back.
Myasthenia issues are extremely variable. Some people are extremely affected all the time while others, like me, are mildly affected most of the time. Symptoms can be exacerbated with exercise, tiredness, stress, illness, etc. Some days I can be exhausted, and can be in bed for about 18 hours, feeling like a collection of limp noodles rather than a person and others I’ll be fine with rest and pacing.
Myasthenia is a frustrating disease because it is so variable and so rare that a lot of doctors and medical practitioners know little (or nothing at all) about it.
Reason for posting this: Google Myasthenia, or Rag Doll illness. Check out the amazing MyAware charity – default myawarehttp://www.myaware.org/ – . Find out more about it and, if you like, help raise awareness or even donate some funds. As some little shop says ‘every little helps’.
Rare Disease Day 2016 is 29 February which just so happens to be my birthday (yeah, I am doubly rare – go me 😉 ) use the hashtag on her on on twitter to help spread awareness of not just Myashtenia but of rare diseases and Rare Disease Day in General ‪#‎rduk‬