Rare, life-changing drug saves little Matthew May

The bright and bouncy child, who lives with his parents Diane and Gary and brother Stewart, (9), in Cape Town, has Morquio Syndrome – rare, even among rare diseases. It prevents his body from producing a crucial enzyme that breaks down complex carbohydrates. The result is progressively more stunted development, wasting muscles, skeletal deformity, a very real risk of blindness and deafness, and problems with his lungs and/or heart.

When he was admitted to the Life Vincent Pallotti Hospital ICU for South Africa’s first-ever patient-infusion with Vimizim on February 9th, 2018, Diane and Gary had serious jitters. “We were hoping and praying that Matthew’s guardian angel would retain its impeccable record,” says Diane. “It did.”

Matthew made history by becoming the first African to receive Vimizim - a life-prolonging drug and more importantly giving quality of life. “He is sadly also currently one of only three people in the country registered as having Morquio Syndrome (also known as Mucopolysaccharidosis Type IVA),” says Diane.

Skeletal and muscular-degenerative Morquio Syndrome

The May family’s 18-month-long road to the re-invigorating Vimizin infusion was pretty rocky. “I think we went through grief, but one thing we’ve always had in common is Matthew’s interests – and communication. One hears of rare-disease families destroyed from the stress. The truth is we’re OK. Friends have bought us meals, done our laundry and even come over and cleaned our home during Matthew’s extensive hospital stays. They were lots of small cogs that came together in this big machine that is Matthew’s journey. Such love for this little guy!” says Diane.

She describes the initial diagnosis as the lowest moment in an ensuing 18-month journey that included two separate surgeries to correct Matthew’s upper spine and knock-kneed legs, plus countless blood tests, x-rays, scans and injections. Their highest moment came when Matthew emerged from a dangerous operation fusing his top two spinal vertebrae using bone harvested from his hip.

His malformed vertebrae were so weak they could have easily snapped. The surgeons said they’d only know his chances once they had made the surgical incisions to reveal the spine. “We didn’t know whether he’d come out of surgery paralysed – but we were granted the best possible scenario and it was a huge success. He still now has an excellent range of movement,” says Diane.

Care from a multidisciplinary team

The knee operation that followed was simpler but quite painful. It involved inserting small plates that have guided growth to enable Matthew’s legs to straighten and help him avoid losing balance when moving quickly.

Diane says that, annually, an ophthalmologist must monitor Matthew's eyesight, an audiologist his hearing, a pulmonologist his chest and a cardiologist his heart. An Ear, Nose and Throat surgeon removed Matthew's adenoids and inserted grommets, which helped enormously in avoiding infections.

Matthew with his older brother, Stewart

Discovery Health Medical Scheme has changed our lives

Diane says there’s no history of Morquio Syndrome on either side of their family. Both parents carry a particular recessive gene, with the odds of each of them carrying this gene estimated as 1 in nearly 300 000. “It’s such an unlikely genetic draw that nobody could have seen it coming,” Diane observes.

The couple have been with Discovery Health Medical Scheme (DHMS) for over 20 years. Diane estimates that the surgery alone must be close to half a million rand, not to mention the covered costs of consulting top specialists (We had to fund genetics as we had to prove diagnosis prior to receiving cover). As Matthew has secured Prescribed Minimum Benefits (PMB) approval, many of these costs are also funded by DHMS.

She says DHMS changed their lives during Matthew’s first 18, difficult, months. Even when Matthew caught a multi-drug-resistant Staphylococcus aureus superbug after his spinal fusion operation, requiring a repeat surgery to clean out the wound and an extra two weeks of hospitalisation, he was fully covered financially.

Incredible results in under a year

Diane is thrilled at her son’s progress since the operation to place growth management orthopaedic device in his legs. X-rays show dramatic changes visible in just 10 months – after it was estimated that it’d take two to three years to see a difference. These plates were deactivated in February 2019, as he now has beautiful straight legs. “We got results way sooner than we expected!” she says.

“Matthew's got lovely straight legs now, is able to manage mobility better, and can even put his feet together! Obviously, we are overjoyed at the results; and we’d like to thank the Discovery team for being part of the journey to keeping him healthy and mobile. It's a little victory in the big scheme of things - but an important one in keeping Matthew out of a wheelchair later on.”

Diane adds: "If I live to be 100, I will forever be grateful to DHMS for providing us with the relevant funding for this amazing one-of-a-kind drug. Matthew has (at the time of writing in early April 2019) had 60 weekly infusions. He missed the first one in over a year in early April, due to having a common childhood illness that prevented him from having his infusion. He continues to have good health and good mobility. He is attending a regular pre-school, and is pretty much like every other little boy his age in spite of having extremely short stature and a few joint difficulties."

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The Discovery Health Medical Scheme is an independent non-profit entity governed by the Medical Schemes Act, and regulated by the Council for Medical Schemes. It is administered by a separate company, Discovery Health (Pty) Ltd, an authorised financial services provider.