I can't walk, I can't sit up, my life is a constant standing....
I have suffered from congenital myopathy since birth, my disease is a mutation of 3 genes (MYH7, RYR1 and CFL2). Unfortunately, the diagnosis - Central Core Disease - is only theoretical, as in practice many of the existing defects in my body do not fit this condition. It is a neurological disease caused by muscle damage. This condition also affects the respiratory system and the muscles responsible for swallowing food, all the muscles.
A simple, severe cold, which very often turns into pneumonia, can be fatal for me. At night I am on a non-invasive ventilator. Wind, frost or terrible heat make it impossible for me to breathe and I panic.
I can't walk, I can't sit up, my life is constantly standing (either in an upright wheelchair or with the help of a hoist on which I am supported by straps to take the pressure off my legs) or just lying down.
Yes, you understand, but I'll say it again because I don't know anyone else like me. I can't sit up and when I'm awake I stand all the time.... This is how I studied, met friends, worked and just lived.
Despite all this, until recently doctors were surprised that I was still functioning so well, until now.
In my case, every new kilo has to be supported by that one knee on which I put all my weight.
I try to live as normal a life as possible, although there are many things I have to limit because of my unusual disability. For example, I have to watch my weight for my health as standing puts a lot of strain on my legs. I also have insulin resistance and PCOS, so I have to be very careful about what I eat. I try to eat healthy and avoid processed foods completely. If I'm not careful, I swell up in an instant. I weigh myself every week, I literally feel every kilo and every kilo shortens my standing time.
Anyway... Just because I'm standing doesn't mean I'm standing like a normal person. My legs are crooked, the weight of my whole body is practically on my right leg, the stiff one, and my knees or ankles are really at the end of their tether.
"...subconsciously I was afraid that if I started to become dependent on all the ventilators (CPSPs) and medications, it would only get worse".
I remember that every time I went to the hospital, literally every doctor would ask if they could refer me to the pain clinic. In fact, everyone in the hospital mentioned it because they couldn't understand why I would want to live in pain rather than just take painkillers. I didn't want to stuff myself with pills because I knew they wouldn't get rid of the cause and my liver would suffer. I was also persuaded to get a breathing machine (CPAP) to use at night. Again, I refused for many years. I think subconsciously I was afraid that if I started to depend on all these people, respirators and drugs, it would only get worse.
Sadly, I was right: going for all these tests and consultations almost several times a month, my mind went out of control. I knew I couldn't expect a miracle.
In order to live like an average person, I need the help of an assistant every day, whom I employ with the help of the social services. This allows me to live independently of my family or friends.
Every time I heard that it was bad and that it was going to get worse, and questions like whether I could still swallow food, I became depressed and anxious.
I remember that I worked a lot at that time (I had my own little "beauty room" - I did nails, eyelashes and make-up) and that probably, even certainly, had an effect on my condition, because with more effort my muscles just disappear forever.
Someone can say what is difficult about doing nails, I would say that for someone who can sit comfortably, he has enough strength to lift a cup of coffee without any effort, nothing hurts him, maybe nothing like that.
It is not an easy job for a disabled person, especially if he or she is doing it standing up and working 12 hours a day. Remember that the rest of the day (e.g. getting dressed or washing) is also a lot of effort. Nevertheless, I liked it and it gave me a feeling of financial independence.
You know what's funny? When I started to get weaker, when my spine or legs started to hurt, when resting on the couch in the middle of the day between clients was standard, I thought it was normal, everyone does that after physical work. I didn't care! I just 'forgot' that I was disabled and even if I wanted to, I shouldn't be like that.
It's all because I never cared about my disability, it was there but it never bothered me. It was terrifying and I'd never thought about it in any depth, except that I'd never done any physical work before.
I don't remember ever asking myself questions like "why me?" or "what have I done?"
I was so resigned to my fate that it never occurred to me to try to seek treatment again.I always heard from my parents that when I was a child they were with me "everywhere" and did "everything" they could.
Although after a few years of working I began to prepare my clients for the fact that I was going to give up my job for the sake of my health (but also because of the lack of fulfilment in my life), I continued to work for about 3 more years. The only reason I continued to work was that I was taking painkillers under a doctor's supervision, but with so much strain, they were no longer working properly. I felt the disease was progressing faster and faster and I just didn't want to let it get to me. Unconsciously, I was trying to put off the end of my activity because it seemed to me that I would stop moving altogether and that would make my condition worse. I also didn't want to give up contact with people and, let's face it, a very good source of income.
Luckily, I was wrong and guess what? My luck was decided by fate.
The first quarantine due to the pandemic came and with it a college session.
Because of the restrictions, whether I wanted to or not, I stopped working.
I devoted myself 100% to resting and studying lying down, and when I had passed everything, I realised that I wouldn't be able to cope physically if I worked for it.
Anyway, I remember that time very well. The rest after several years of constant work brought more strength and will to live after only a few weeks. I don't understand why I suffered for so many years. For money? I didn't even have the strength to spend it.
I wanted to take care of myself. It was during this time that I had another idea for a collection. Everyone encouraged me to do it... family, friends and even the assistants I employ, because they saw what was happening to me both physically and mentally. They saw how after 2 hours of shopping in Tesco I had to lie in bed for 2 days because I was in so much pain. And when I knew I had to go somewhere, like someone's birthday party, I would 'recharge' in bed a couple of days before. I also had to plan all my trips. No spontaneity, because that cost me the most...
The last few months were the climax of everything. The hairdryer, the showerhead or the coffee mug are getting heavier and heavier for me, which prevents me from doing any physical work. I even only read with an e-reader or on my phone because the book is too heavy for me.
Thanks to the recent help of wonderful people, I can now enjoy physiotherapy and wait for a new wheelchair.
I may not survive the surgery, it may paralyze me and I may be under constant pressure all the time. invasive respirator.
I know that I will soon have to have hip surgery to be able to sit normally because I feel that my legs will soon give out completely. Now, because of hip dysplasia, to put it simply, my hip does not bend to the extent that it prevents me from sitting. "Hip dysplasia is one of the most common congenital defects. It usually involves a flattening of the acetabulum..." - but apparently I don't even have an acetabulum. Is my hip just stuck in, fused to my pelvis? It allows me to stand, because otherwise the muscles would not support me, but at the cost of not being able to sit down.
Anyone who spends a little time on the internet knows that there are implants for degenerated knees. The problem is that there is no socket for the artificial hip. This is the main reason why it is so expensive to get an opinion from a private doctor. I think you can do more with money.
Yes, I cannot walk or sit down, my life consists of standing all the time (in a vertical wheelchair or with the help of a lift with straps to take at least some of the weight off my legs) or simply lying down. When my legs stop obeying me, which in my opinion is nearer than it is farther away, I will only be able to lie down.
I may not survive the surgery, it may paralyze me and I may be under constant pressure all the time. invasive respirator.
But is it better to stay in bed until the end than to die during the surgery?
Some time ago, I saved up money for doctors' appointments, a wheelchair and rehabilitation. This collection was probably the biggest humiliation of my life, but thanks to it I can afford a new wheelchair and enjoy the rehab. As for medical consultations, no one gives me hope anymore... ;(
