Most of my followers are familiar with the fact that I have been a professional disabled person for many years. I've already written a blog about it many times.
Yet many of you do not know exactly what I have and let me put it this way: I do not always understand it!
I've been diagnosed with Congenital Myathenic Syndrome. CMS for short. And do not confuse this with the CMS we know from the Internet:
CMS (Content Management Systems) A content management system is a software application, usually a web application that is used to publish data on the Internet without people needing a lot of technical knowledge.
Although, now that I think about it...
Congenital Myastheen Syndrome does have something like a Content Mangement System in the body. The software moderate is in fact comparable to stimuli given by the muscles:
Congenital myasthenia is a very rare, congenital weakness of the muscles. The weakness arises because stimuli from the nerve are not properly transmitted to the muscle. The disease resembles another muscle disease: myasthenia gravis (MG)
Congenital myasthenia usually manifests itself quickly after birth or at a young childhood age (congenital = congenital).
Now I have taken over the above from the site of Muscle Diseases and I do not entirely agree with the last rule: at a young childhood age. I was about 24 when it revealed to me and now I know what I have for about 7 years.
So long has it taken before a doctor in the UMC told me about the disease. Before that time, there was especially misunderstanding, and after I was diagnosed, the pieces of the puzzle collapsed.
Now it is true that Congenital Myastheen is a hereditary disease:
Congenital myasthenia is a hereditary disease. There's an error in a gene that causes something to go wrong with the impulse transfer from the nerve to the muscle. The phenomena are often associated with which gene is the cause of the congenital myasthenia.
Some facts:
Congenital myasthenia is very rare
Congenital myasthenia is a hereditary disease
Congenital myasthenia manifests itself quickly after birth or at a very early age
Caution with medications should be exercised in congenital myasthenia
Thus, congenital Myastheen Syndrome is hereditary. As I wrote earlier in a blog, my twin brother also has this disease (I have little or no contact with him). And yet this disease did not occur before in the family. As far as I understand it now, both parents must be carriers of the gene that gives this deviation, and only then can the children develop this disease. I also understand that my children cannot develop this disease, but they are carriers of this anomalous gene. At least... So we assume that my wife is not a carrier of this particular gene and we do not notice any deviation in our children so far!
Sometimes I find it hard to deal with this. Since there are few people with this deviation, it remains rare, and I have no contact with my brother, I also have no one to really talk about it. Sometimes I hear from my mother about my brother, but that's what it is.
There is still no cure of congenital myasthenia. Treatment is aimed at reducing or preventing the phenomena as much as possible. Because the disease is so rare, it is necessary to consider individually what works best in each individual.
As I wrote in my blog It's a damn good question:
I don't want to give up yet, but I've been getting heavier lately. Have more pain, tired faster, no (or little) energy. Clowing stairs is becoming more and more difficult. The other day, I wanted to go upstairs, but I just can't get to walk up the stairs, because I get all the pain shoots in my right leg.
From next week I will go to physiotherapy twice a week. Over the past year, especially in the lower body, I have deteriorated 15 to 25%. And that's a lot! This has partly to do with the Covid virus we're dealing with right now. In the first wave, I haven't had a physio for nine weeks. Besides, I don't get out of the house much. Actually just for my therapy and occasionally a visit to the GP.
Anyway, I just wanted to tell you what I have with this blog and I hope I have been able to give a glimpse into my illness.
I know there's a lot of misunderstanding around me. People see me walking sometimes, sometimes I'm messing around in the barn or in the garden. As long as it is (still) possible, I want to stay busy with woodworking, just because I have fun in it. Together with the girls still work and stay as much as possible. That people don't understand, that's their problem, not mine!
