The story of Diane
Matthew May’s Rare Disease story is like many; it has a beginning, a middle but no end… Unlike many Rare Disease stories; it is full of hope, success and triumph over all the odds.
Matthew is a little guy of 5 and a half. He has a disease with an enormous name; Mucopolysaccaridosis IV. MPS IV (or Morquio A syndrome as it is also known by). It is an enzyme deficiency, relating to metabolism of certain complex carbohydrates and proteins. It results in something known as GAG’s that accumulate in the joints and organs, affecting normal growth as well as other medical problems. It is so rare that there are only 2 known people registered in South Africa. It is estimated that it occurs in somewhere between 300,000 and 750,000 people.
Matthew was born full-term; a big and healthy baby. He grew normally and met all his milestones perfectly. He is a second child, and learned from his older brother – excelling in things like early potty training, excellent language skills and being tough. His happy, carefree nature is holding him in good stead. The only unusual symptom that he showed was a slight “pigeon-chest”, which the doctors had assured us that he would grow into by the time he was three.
At three, he hadn’t grown into his barrel shaped chest, and he was starting to be a bit knock-kneed. At a routine visit to the paediatrician his mum insisted on a chest x-ray, which they agreed to since he was suffering from a chest infection at the time. The first troubling symptom showed up, a lower spinal deformity. The radiologist initial diagnosed Hurlers disease, another one of the mucopolysaccaridosis diseases. Enzyme testing ruled out Hurlers (MPS I), Hunters (MPS II), as well as MPS VI. Ultrasound of Matthews’s abdomen revealed enlarged liver, which is another symptom consistent with MPS. Matthew also consulted with a Professor of Orthopaedics, specialising in spinal work. He also suggested that the symptoms were consistent with MPS, although the enzyme tests to date had ruled out the obvious ones.
Matthew then went on to consult with a genetic specialist at Red Cross Children’s War Memorial Hospital. Although there is no family history; Matthew has many symptoms typical of MPS (short stature, large head relative to weight and height; short neck, broad wrists, thickening and stiffening of PIP joints, Flared lower rib cage and pectus carinatum, genu valgus.), he has no neurological involvement, and he was diagnosed as having Mucopolysaccaridosis type IV, one that he had not been previously tested for. A test was done, which was positive for GAG’s in urine, indicating a correct diagnosis. An additional genetic test was sent to the U.K., which determined that Matthew has MPS IV type A. The test was facilitated by the National Health Laboratory services, but had to be sent overseas as we have no genetic testing available in South Africa for this condition.
Matthew had an MRI and a CT scan on his spine. He had a severe narrowing of the cervical spine (in his neck area), and this was dangerously unstable. Surgical invention was expedited for this, as it was crucial to prevent possible paralysis. He had a spinal fusion and decompression done in May 2017; from which he recovered well in spite of contracting the dreaded MRSA hospital superbug. A talented Prof Dunn harvested some bone from his hip and repaired his deformed neck, still allowing him a great range of movement.
More recently, In February 2018, another talented orthopaedic came on board, and Dr. Horn performed an operation on his legs placing growth-management plates near his knees that has allowed his knock-knees to straighten. She will now continue to monitor and intervene as necessary.
Regular monitoring of certain medical fields will also enable us early intervention in the things that are known to be associated with Morquio syndrome. These include: Regular visits to the genetic specialist, his paediatrician, annual checks with audiologist, ophthalmologist, cardiologist, ENT, dentist and respiratory specialists. It is known that MPS IV patients can suffer from heart disease, clouding of corneas can occur and hearing loss may also become apparent. To date he has had all baseline tests performed; and ears, eyes, heart and lungs are all normal at this stage (Which means that he selectively hears what you tell him, rather than not being able to hear.) Currently huge amount of occupational therapy is being thrown at him; he is bright enough, but lacking in gross and fine motor skills in order to be school ready next year.
Another areas that do not require treatment at this stage, but could in the future are arthritis associated with this disease, dental restoration to malformed enamel on his teeth and pulmonology. MPS IV patients often suffer with breathing difficulties mostly due to the limited growth and the compression on the lungs and other organs. A slight respiratory infection can become a major problem. Tonsils may be removed later to facilitate easier breathing and to prevent apnoea.
Matthew is a bright and active little boy of five. He has a wicked sense of humour, and specializes in making rude noises. He loves to paint, cut and stick. He is also quite partial to singing and dancing. He is a speed-demon on his bicycle much to the horror of his parents. He wants to be just like his big brother when he grows up. Early intervention and treatment can go a long way to keep him this way.
On the 9th of February 2018 Matthew made history. He was the first patient on the African continent to receive the enzyme replacement, Vimizim, at Life Vincent Pallotti Hospital; administered by his paediatrician Dr Paul Sinclair. This was a result of a long battle to obtain the relevant permits (it’s a section 21 drug, never been scheduled or used in this country before), import the drug with the assistance of Equity Pharmacy Ltd, and get Discovery medical aid on board, as it was financially prohibitive without their help. No small thanks to Kelly Du Plessis and her fantastic team at Rare Disease Society of South Africa, who aided in the motivation and took countless meetings and motivations to get this to happen.
The ERT can virtually halt the damage that the enzyme deficiency causes. It breaks down the GAG’s that accumulate causing the damage to his organs and skeletal system. Bones are allowed to grow more normally and it could effectively prevent multiple secondary complications and save on many surgeries that might be required otherwise. The ERT has already kept many patients out of wheelchairs; improved quality of life by preserving energy and stamina to those receiving it. Patients on ERT also report much less pain associated with this disease.
Matthew will have to have a weekly transfusion of the Vimizim to allow the rest of his life to be as normal as the rest of us. He will have to live within certain limitations, specifically dwarfism that will affect him; but he is already living his life to the fullest today. Unlike many other children that are affected by Rare Diseases, he will be able to attend a regular school and have the capacity to learn and be a productive adult in society. He has empathy and forgiveness like no other from this condition, and maybe one day he will be able to give back in abundance the support, generosity and love that he has received on his journey to someone else who needs it too. And who knows… medical breakthroughs are happening every day… there may still be a cure for Matthew in his lifetime!