Hi! I dont know if ive posted this in the right place, but i wondered if anyone else is a carer for someone with a rare illness/disease?
My partner has myotonia congenita, thomsens mutation. Ive never met anyone else with the condition, let alone a carer for someone with it.
Anyone else in a similar boat?
@MrsBLE Welcome aboard the forum. Rare diseases, especially genetic ones can feel isolating - I have very limited awareness, but some knowledge from having worked in science and pharmaceutical field several years ago.
I vaguely remembered the kinds of muscle contractions and difficulties associated to this mutation-illness. It must be challenging and painful for your partner.
I did a quick search and found this: https://www.myotonicdystrophysupportgroup.org/
As with most support groups, there are many different ones in the US but only a few rare disease-related support groups in the UK and only that one dedicated to Myotonic dystrophy.
You undoubtedly have more awareness and info than the site does, and perhaps you’re already aware of this group. Just passing it along in case it helps
I hope that someone on the forum has a similar situation to yours and can share their thoughts.
if there’s any general recommendations or support questions, perhaps we can offer up ideas.
best wishes, & bucket loads of empathy
My mum has non insulinoma pancreogenic hypoglycaemia ( although they’re still not absolutely certain there isn’t an insulinoma which is also rare). She’s beat the odds since life span is generally 14 years and we’ve been dealing with this for nigh on 30 years - symptoms have got worse over the years until she ended up in intensive care 2 1/2 years ago and my part time care role turned full time. The condition led to heart failure and the only drug’s available cause heart failure so no suitable treatment available
30 years is a long time to beat a condition like this, but a long time for you as a carer as well. I do hope you are getting help and support?
Very little support sadly. Care package was 1/2 hr each morning to wash and dress mum and I get 3 x 2 hour sits a week. Other than that I’m on my own and it’s very tiring. They did offer a weeks respite but mum refused to go to a care home so that was a no go.
Half an hour sounds very rushed to wash and dress and tidy up afterwards - or is that left to you? Would it be affordable to have a “cleaner” initially when you are there, but as mum gets to know her, you can pop out for longer and longer? Is mum claiming Attendance Allowance, assuming she is over pension age, otherwise, PIP?