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Rare Disease Awareness Day 2020

Updated: Aug 4, 2023

Hi everyone,

Hope you are all well.

Today (Saturday 29th of February 2020) is Rare Disease Awareness Day. To help raise some more awareness I have decided to write about the journey my family had to go through to get me diagnosed and how SMA has affected my life since.

SMA affects 1 in every 6,000 to 1 in every 10,000 people so is a very rare condition, it has 4 strands which are based on severeness of the symptoms.

I was born on June 28th 2003 at 8.30AM weighing 6 Pounds, 1 Ounce, everything appeared to be going well until I was 6 months old.

When I was 6 months old, my family noticed that there was something not right with my legs and movement. They mentioned this to the health visitor, who was based at my local doctors. She said "all babies are different there’s no need to worry." My family knew that there was something wrong and they kept on telling the GP and the health visitor, an appointment was finally made for me to be seen at hospital for 3 months’ time. My family could not wait any longer so they decided to pay for me to see a private doctor at Shirley Oaks. I saw the specialist doctor within 2 days, I was nearly one at the time. We later saw Dr Antonia Clark at St George’s Hospital and after some genetic testing, she diagnosed me with Spinal Muscular Atrophy type 2 on 12th October 2004. The diagnosis was confirmed by the absence of the Exons 7 in the SMN1 gene. After the diagnosis, I was given physiotherapy which included hydrotherapy as a way to attempt to prevent the deterioration of my muscles at a young age, this began in November 2004 and was weekly. Because I was unable to weight bare, being in the water would have given me a way to move my muscles without the interference of gravity. This is still relevant today and I still have access to a hydro pool at school which helps with movement. SMA type 2 commonly affects the respiratory side of the body, it has caused me to be admitted into the intensive care units of at least 5 London hospitals, from a young age with chest infections. My family were informed that I would need to use a standing frame to attempt to maintain joint movement, due to my chest losing energy very quickly, when I was about 10 I had to stop due to the amount of energy it used. In 2009 I was diagnosed with Scoliosis, this is a common problem with SMA as the muscles are unable to support the spine. For more information on my personal scoliosis check out my other post “A update on my back”. I had my back surgery in June 2010 at Great Ormond Street Hospital, it definitely helped with my respiratory problems as it relieved the pressure on my right lung and along with the care my mum provides, has kept me out of hospital.

In 2016, I took a turn for the worse and permanently lost the ability to eat orally due to having an unsafe swallow. I have already written about this in depth so if you’re interested feel free to check out “My feeding tube journey”. There was recently a breakthrough in research in SMA with a drug called Spinraza being introduced. I have also written a post on this so feel free to read that too.

I am now 16 and I still attend regular hospital appointments where they monitor me and my condition. Although there is no known cure for SMA, with the help of my family, friends and carers I live life to the full and don’t let my condition stand in the way.

Thank you for reading this little insight into my genetic disorder, if you have any questions feel free to ask I'll be happy to help.

Ellie X

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