Nisha’s story – MyAware
Nisha has Congenital Myasthenia Syndrome. In this blog she shares the stats around her story and answers questions on what life is like with her condition. June is Myasthenia Awareness Month, join in by visiting Genetic Alliance UK member, MyAware’s website.
I am Nisha and I have Congenital Myasthenia Syndrome (GFPT1 mutation). I have difficulty walking long distances and have a visible waddling gait. I can’t climb steps without using both my hands. I find getting up from floor impossible and rising from chairs is getting tougher as time goes on. No one else in my family is affected.
I am a 41 year old Indian woman living in Dubai with my husband. I write poetry, play the piano, meditate, and travel a lot with my husband. You can read my Rare Disease Day poem below. You can also read more of my work by following me on Instagram, @half_a_verse.
I have a firm belief that a strong will is more important than anything. Having an attitude of gratitude can take you through all ups and downs. Having said that, I am extremely blessed and have been through a lot to come to this revelation. We all have our journey and I am just glad that this is mine.
How many hospital appointments do you attend (inc phone calls) each year on average?
Till the age of 39, I went to Neurologists just twice. Both times they said it is Congenital Myopathy and there is not much we can do.
After diagnosis at 39, I went to a few doctors in India who prescribed me pyridostigmine. I have been trying it without much success.
So, to answer your question, I don’t see doctors much. I do have a physiotherapist who comes home twice a week to help me exercise.
How many medications do you take each day for your condition?
I take 5 tablets a day.
How long did it take for you to get your diagnosis?
Once I met a genetic counsellor, it took only a month. The fact that I was living under a bush for 39 years is the problem!
What has your journey to diagnosis been like, what were the challenges or things that went well?
During childhood (age 6) when I showed symptoms of weak muscles, doctors could only confirm that I do not have muscular dystrophy. They said I might be ok as I grow older. And if not, I won’t deteriorate. But after the age of 35, I started feeling weaker. That is when I started looking out again by joining forums, researching online, etc. I came across genetic counselling on my own. Even though I was visiting physiotherapists, some orthopaedics on and off, no one really suggested this. I was living in Bahrain between the age of 26 and 40 and I believe the information they had was limited.
After getting diagnosed I started the medicine in June 2022. But then covid hit and I probably had long covid which caused me dizziness. I believed it was the medicine so I stopped taking it. I restarted after 10 months but I still can’t tolerate a whole dose due to diarrhoea after having it. When I took the whole dose before covid, I did feel my walking was faster. So I am hoping to increase dosage soon with the help from the community and perhaps find a doctor in Dubai who knows something about CMS! I am also hoping I wont need any other medication as I don’t like not knowing what side effects might be.
What impact does your/their condition have on your family’s life?
I live with my husband in Dubai. We have been together for almost 20 years now so he knows my condition in and out. He is very supportive and because of him I don’t feel much problem. Even though he does have to sacrifice quite a bit, he never complains about it. It is when he is not around I feel miserable! No one understands how tough it is for me to walk, climb, etc. and they always act surprised to see how much my condition has deteriorated. I do have supportive friends and family but its hard and tiring to keep explaining.
I don’t have children because of CMS. I didn’t want to gain weight and also pass on the genes.
What does Rare Disease Day mean to you and/or your family?
For me it is a day to connect with people with the similar condition. Congenital Myasthenia Syndrome is very rare. To understand this condition, you need to go through it and why finding your community is so important.
I also wish the world had more ramps! It is important to spread awareness about disabilities so that more people can keep accessibility in mind.
