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He is triumphing over all the odds – Diane May

Matthew May is a happy, carefree little boy of 4 years, who is completely unaware that he is a success story triumphing over all the odds.

Matthew was born with a rare genetic condition called #MPS IV, a #mucopolysaccharidosis storage disease also known as #MorquioSyndrome after the doctor that discovered it. He inherited it from both parents, who are unwittingly carriers of the recessive gene. It‘s estimated to occur 1 in 300,000 people. Matthew is currently only 1 of 2 registered patients in South Africa.

Matthew was born full-term, big and healthy baby. He grew normally meeting all milestones, and excelling in early potty training and language skills, learning from his older brother. He had a slight flared lower rib cage from birth that the doctors assured us he would grow into.

By three his chest hadn’t improved, he was starting to become knock-kneed and he simply stopped growing. A chest x-ray revealed a spinal abnormality, which looked like #Hurlers Disease (another Mucopolysaccharidosis disease). An ultrasound showed an enlarged liver, and a visit to an orthopaedic surgeon also suggested symptoms consistent. A blood test ruled this out though. Matthew then went to see a genetic specialist, and although there is no family history, he was showing other symptoms consistent with MPS: large head relative to weight and height, short neck, broad wrists, and thickening of joints. His neurological tests were normal and she suspected Morquio, a more rare form of mucoploysaccharidosis. Testing of urine and blood confirmed this. We were lucky, diagnosis only took 6 months.

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, harvesting bone from his hip to repair his neck. Matthew has recovered unbelievably well in spite of contracting MRSA, the hospital superbug. More recently, he has had surgery to place growth management devices in his legs to enable them to straighten, and to continue to give him good mobility.

Our biggest victory came on the 9th of February 2018. Matthew became the first patient in Africa to receive Vimizim, the enzyme replacement to treat Morquio A . This has been 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 Kelly, and her Rare Diseases South Africa, who fought for our family like it was their own.

Vimizim virtually halts the damage that this disease causes by breaking down the waste product #Glycosaminoglycans that Matthews body can’t. It will allow him to grow more normally, save his eyesight and hearing, aid in his respiratory and muscular system keeping him out of a wheelchair, and improving his quality of life by preserving energy and stamina. Patients on Vimizim also report much less pain associated with the disease.

Matthew will require a weekly infusion of this wonder-drug, but it will allow the rest of the week to be normal and active like every little boy of four should have. He will have to live within certain limitations, dwarfism is likely, but he will live. And that he is doing with great gusto already.

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