Help Zsombor to get his SMA gene therapy

TOGETHER WE CAN MAKE IT!!!
We need to collect 1.860.000 million pound for Zsombor before his second birthday!

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Zsombor’s story:
I was born on 22th of October 2019 with ventricular septal defect (VSD), of which my parents knew about when I was in the womb. When I was five months old I had a heart surgery, and we thought the battle was won, and we can move on. But it turned out, the real fight has just begun: the diagnosis was SMA.
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Zsombor Burinda | ME
When I was a 16- week- old fetus, my mum and dad were already informed that I would be born with a hole in my heart and it wouldn't be easy with me in the beginning. The doctors thought that it was Fallot tetralogy, but then it cleared out that there was a big hole at a very bad place. It was noticed by a cardiologist in Debrecen who told my parents that the problem could be solved by only one surgery. Hearing this statement my parents felt reassured.

I was born on the 22th of October. The doctors didn't want me to be born in a natural way because of the hole in my heart, so they decided to perform a C-section. I could only spend two days with my mum, then I was taken to the NICU (Neonatal Intensive Care Unit) and was put into a strange box that kept beeping. Mum visited me every single day to feed and pet me but that was definitely a hard time for both of us.

After ten long days I was allowed to leave for home and it seemed that I wasn't as sick as everyone thought because I could eat properly and I was strong. When I was two and a half months old, a new type of medicine was prescribed for me. I lost my appetite and good mood and so my parents supposed that the new medication was to be blamed. I couldn't put on as much weight as before and when I was four months old, I stopped gaining weight. It was the cardiologist who urged my heart surgery to be performed since there were times when my parents could feed me only with a syringe and that was very extremely exhausting for all of us.

On the 10th of March we went into a big hospital, called GOKI. I was immediately put into a box again and I couldn't be with my parents. Everything was beeping around me again and I couldn't do anything but cry all the time. The next day I was taken to another strange place. My mother could come with me only until we got to a door. Then I fell asleep. Some time later I woke up at a new place where there were more beeping sounds and many strange strings attached to my body. Three days later I could be with my mum again and I couldn't stop complaining to her.

Finally I was taken home and everybody was very happy about it. I could eat properly again and I started gaining weight but I couldn't move. I was very tired and I was lying on my bed all day long. My mum and dad thought that it was because of the surgery but then we visited a neurologist who told them her diagnosis that I have SMA type 1, which is the worst of all. After that I didn't understand what was going on around me, because everyone started crying when they looked at me. I had never seen them cry before. I was really confused since usually it was me who cried not them.

My mum started making phone calls instead of playing with me and soon we went to hospital again. This time it was the Bethesda where everybody was kind; they smiled and talked to me a lot. At last, my mum began smiling, too. Though I was given a lot of injections again, which I hate, suddenly everyone became very happy around me because I started using my hands and legs.

Slowly but surely I am getting stronger and stronger day by day. I play and exercise a lot with mum. Daddy and mummy always find out something to annoy me. They put me on a ball or a swing. They even make me lie on my tummy, which I really don't like.

That is how we live now. Mum and Dad hope that I can get a special type of medicine which will have to be injected only once and never again and then I will develop and become strong and I won't be hurt any more. I do hope we can make it!
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SMA and me
After my surgery we hadn't had much time to be happy, because the neurologist told Mom her suspicions about my lack of movements. I had to have my blood tested and sadly it turned out the doctor was right.

My illness called SMA, Spinal Muscular Atrophy, and I have type 1, which is the most severe one.

Spinal muscular atrophy is due to a genetic defect in the SMN1 gene. The SMN1 gene encodes SMN, a protein necessary for survival of motor neurons. Without proper medication the loss of these neurons lead to the atrophy of limbs, then respiratory problems.

Currently only one medication is available, and it is called Spinraza. This drug is only affective if I have so called copy genes, which could work like the original genes at least some part. This medication is given to me in a very painful way, using an intrathecalinjection. With a needle they extract cerebrospinal fluid and inject this medication. They always make me sleepy when this happens, and Mom holds my hand when they inject the medication. I shall have these procedures throughout my whole life, because this keeps my muscles alive. In addition to that I need lots of special exercises and playingfor my progress. Every day we go to physiotherapy and train at home as well.

There is an other medication though! It's called ZOLGENSMA. My parents and I would love to have this drug, because it would be a one-time infusion into the vein, therefore the doctors wouldn't have to put a needle in me so often. This medication could put inside me a new, working copy of SMN1 gene, so my muscles could work. With its help I could be able to walk one day. It would be wonderful to be able to know what it's like to run or ride a bike! Perhaps one day it will happen!
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Donations

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  • Anonymous 
    • £10 
    • 18 hrs
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    • £25 
    • 21 hrs
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    • £20 
    • 23 hrs
  • Anonymous 
    • £20 
    • 1 d
  • Jozsef Pfeffer 
    • £10 
    • 1 d
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Fundraising team: Together for Zsombi❤️ (2)

Daniel Bakk 
Organizer
Raised £25 from 2 donations
Edgware, Greater London, United Kingdom
Zsombor Burinda 
Team member
Raised £277 from 13 donations
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