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Your support meant we could help this little guy with a big spirit

Little Matthew has a disease with an enormous name: Mucopolysaccharidosis IV. MPS IV (or Morquio syndrome as it’s also known) is an enzyme deficiency relating to the metabolism of certain complex carbohydrates and proteins. It results in something known as GAGs that accumulate in the joints and organs, affecting normal growth and causing other medical problems.

Matthew was born full-term; a big and healthy baby. He grew normally and met all his milestones. The only unusual symptom that he showed was a slight “pigeon-chest”, which the doctors had said he would grow into by the time he was three. But this didn’t happen, and Matthew was also starting to be a bit knock-kneed.

At a routine visit to the paediatrician, Matthew’s mother insisted on a chest x-ray, which revealed the first troubling symptom: a lower spinal deformity. The radiologist initially diagnosed Hurler’s disease, another one of the mucopolysaccharidosis diseases. An ultrasound of Matthews’s abdomen revealed an enlarged liver – another symptom consistent with MPS.

Matthew then went on to consult with a genetic specialist at Red Cross Children’s War Memorial Hospital. Matthew has many symptoms typical of MPS, such as a short stature, large head relative to weight and height; short neck, broad wrists, and a flared lower rib cage. Matthew has no neurological involvement, and he was diagnosed as having Mucopolysaccharidosis type IV – one that he had not been previously tested for.

MRI and CT scans showed that Matthew had severe narrowing of the cervical spine that was dangerously unstable. Surgical intervention was expedited, as it was crucial to prevent possible paralysis; he had a spinal fusion and decompression done in May 2017 and has also had surgery to place growth management devices in his legs, to enable them to straighten and continue to provide good mobility.

But the May family celebrated their biggest victory in February this year. Matthew became the first patient in Africa to receive Vimizim, the enzyme replacement to treat Morquio A. This will allow him to grow more normally, save his eyesight and hearing, and aid in his respiratory and muscular system – keeping him out of a wheelchair.

This was a tireless process to get permits to import a drug that is not even scheduled in Africa, and to get the medical aid on board, as without them it was prohibitively expensive for an average family to afford. We could not have done it without Rare Diseases South Africa, who fought for our family like it was their own,” says Matthew’s mum, Diane.

Today, Matthew’s a bright and active five-year-old and is doing well with his treatment. Despite weekly visits to the hospital – which are nobody’s idea of fun –he’s a normal little boy in between . . . “And that is worth everything,” adds Diane.

Matthew’s Facebook page shares information about Morquio syndrome – and celebrates this brave little boy’s triumphs. Matthew May is truly an inspiration for living life to the fullest. You can visit Mighty Matthew May on Facebook

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