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We can still live our best lives with Rare Diseases SA's help

My name is Matthew May, I am 7 years old and going to Grade 2 (in spite of having mum and dad home school me through this pandemic.) I love riding bikes, playing “survivor” with my brother; I swim like a fish and story-time at night is my best. I am the smallest in my class, but also the toughest.

I wish it was all as simple as that though; you see I was born with an extremely rare disease called Mucopolysaccharidosis Type IVA or Morquio Syndrome. I have a faulty gene that should produce an enzyme for metabolising certain complex carbohydrates. It results in a waste product called GAG’s which accumulate in bones, joints and organs. I was three already when my parents realized that I was different. I simply appeared to stop growing (because at this stage the GAG accumulation had blocked up my growth-plates). It took my doctors 6 months to get an accurate diagnosis; but this is pretty quick for a disease as rare as mine.

As a result from Morquio I have some unique medical issues, and with that an amazing multidisciplinary medical team. I have had around 11 anaesthetics to repair my body, the most complex and dangerous one being my cervical spine, and more recently bilateral hip osteotomies to keep me mobile and walking (running, swimming and bicycling). I will have to have more surgery later as I get a little older.

Morquio syndrome unfortunately is degenerative. I will have certain limitations in my life, namely dwarfism and joint contractures. Most of my doctors are pretty happy with me: I aced my cardiology, respiratory and ophthalmology this year, and am holding my ground with the other specialists.

I’m rocking my hearing aids, and work really hard on my daily occupational therapy. I attend a remedial school because of my motor skills; it’s quite a cool place though as there are lots of other special children there and no one bullies me for my size. I tolerate the weekly five-hour long intravenous infusions for the enzyme replacement every Friday. Last year that included my birthday, mum’s birthday, Christmas Day and New Years Day.

My mum has become an Ambassador of sorts for Rare Diseases South Africa. She says that without their help after my diagnosis that we may have been lost into the system or left without treatment. We had never even heard of this disease before, never mind knowing that there was treatment available. They assisted us in getting our medical aid onboard and agreeing to pay for my enzyme replacement, Vimizim, which gets shipped from England especially for me on a permit basis. It’s the only treatment in the world for my condition which can slow down the progression of the disease, and is so very expensive.

Rare Diseases SA has also put us in touch with many others who face unique medical conditions. The support that we receive, and the advice that we share, is so very valuable. I believe in supporting this Non-Profitt organization 100%. If you haven’t had someone close to you suffer from a rare disease, you may know of someone... there are many of us. For the millions of us that have rare conditions, there are nearly as many different diseases, and ones that cause different symptoms too – and that is what makes us all unique. Rare diseases pays no attention to your skin colour, your sex, your financial situation, or your social standing. Many, like myself, are children - sadly because some of us have limited lifespan. But we can still live our best lives, and more, with people like RDSA behind us.

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