AussieGran you didn't offend me. I have hereditary Hyperekplexia gene mutation SLC6A5. It effects the brain receptors as is rare. What is written says it's a startle reflex which causes people to fall. But it is more complex than that. I am a member of a Facebook group which is world wide and has just over 900 members. I have had pains in my legs all my life and fallen . My parents where told it was growing pains and I was clumsy. I was told that when I was 19 then it was growing pains, clumsy,time of the month ,age and I was overweight.
When I was 29 woke one morning unable to control my limbs and in pain. Walking was very difficult. I had a 4 year old and 6 months old. 2 months later ended up in hospital for 3 weeks with pain off the chart. And it went down hill from there. But had a wonderful GP who knew me well. Unlike the nurse who shouted at me because I was crying and hadn't seen my children for 3 weeks . She told me to stop making a fuss as I only had post natal depression. Luckily I went home the next day. Had a doctor also in hospital tell me I was mentally ill.
My GP knew it was physical but before he could send me to various consultants wanted me to see psychiatrist to clear me. My husband hated that . But she said it was physical used to joke I have a certificate saying I was sane.
Saw different consultants. Finally saw a neurologist in 1992 in London my GP found the top man at the time for me to see. Rather than just an appointment he had me in for a week and a odd day. And ran every test available at the time . Had telemetry whilst being video for 24 hrs had multiple limb jerks but my brain waves stayed the same. Some of tests where barbaric by today's standards. But I didn't care I needed answers. He was wonderful Professor Marsden and held my hand and said sorry my dear I can't tell you what's wrong but I can tell you what you haven't got.
My brilliant husband from 1988 said we alter our way of life to suit what you can do. Meant me using a wheelchair as it was easier with young children. Used a walking stick as well still do. Had equipment to help me in the home and my husband adapted the house.
I was a hands on mom only thing I couldn't do was take me children to school but mom and mother in law did that . Never missed a school event my husband and dad made sure if that.
Unfortunately my fit healthy husband died from cancer in 2004. From 1992 was put on anti epilepsy drugs and pain killers. Didn't see an neurologist again until 2017 after 2 of the anti epilepsy tablets gave me jaundice and could have died. Didn't find that out until my gastrologist discharged me after 5 months of being seriously ill. My limb jerks and pain got worse.
Anyway in 2019 moved over 100 miles to north west of England. And my wonderful new GP sent me to the Walton Centre. Besides the limb jerks had been having siezures for 4 months. My brilliant Neurologist put me on Clonazepam March 2020. Haven't had a limb jerk or seizure since. He also had my blood sent for genetic testing in January 2020 but didn't get the results until March last year because of Covid. So since April finally know I have HPX which can only be diagnosed by genetic blood testing. There are different gene mutations. Mine means both my parents where carriers. There was a 50-50 chance of having a child with it. I have got it my brother hasn't. Also found out after blood tests should heart failure 2020 I was born with a hole in my heart but it's not in the connections between the chambers of my heart apparently there is a flap between your heart and lungs which is supposed to close before birth mine didn't. I have PAF but on tablets for it.
HPX has only been able to be genetically tested about the last 10 years. Before that it was clinical observations but only diagnosed if the neurologist knew about HPX. There are many like me only getting diagnosed in their 60'-70's . But at least babies and young children showing syptoms or have a parent with HPX one of the GL mutantions can be tested and helped from birth.
I have learnt such a lot from others with HPX I am no longer weird but know what's wrong with me. All my symptoms are normal .
HPX was only first noticed in 1958 first family written about was a Dutch family who all had it in 1962.
I have rambled but it's not a simple thing to explain. It's a complex condition. Even though doctors have a said I am disabled I never used the D word until my diagnosis as I have met people worse off than me in the last 35 years. But I am disabled unfortunately for 35 years denied disability benefits. Drug addicts and illegal immigrants are treated better than disabled people in England . Won't go into a rant over that.
And before you say I didn't need to explain it doesn't bother me. If what I say helps one person then it's worth my ramble.
