International Awareness MPS Day highlights family’s ongoing battle

As International Awareness MPS Day was celebrated on May 15, the Alberton Record followed up with Michaney de Wet, Zachary’s mother, to get an update on his condition and the family’s ongoing battle for his life-saving treatment.

At just two years old, Zachary, affectionately known as Zach, was diagnosed with the rare and incurable disease MPSII, also known as Hunter syndrome.

This genetic disorder is caused by the absence of the enzyme iduronate 2-sulfatase, leading to the accumulation of harmful substances in the body, resulting in progressive damage.

Because Hunter syndrome is so rare, the treatment costs are very high. One month costs around R250 000, a sum the De Wet’s could scarcely cover alone and yet, they are expected to.

Signs and symptoms include:

• Reduced endurance;

• Vision problems;

• Reduced field of vision;

• Optic nerve damage;

• Glaucoma;

• Enlarged liver and spleen (hepatosplenomegaly);

• Umbilical and inguinal hernias;

• Abnormal facial features (flat face, flat and depressed nasal bridge, slightly bulging eyes, enlarged tongue, thick lips);

• Large head (macrocephaly);

• Short stature;

• Lung problems;

• Reduced lung function;

• Frequent, recurrent lung infections;

• Sleep apnea;

• Potential developmental delays (some might have normal intelligence);

• Potential slowing of mental development;

• Carpal tunnel syndrome;

• Fluid on the brain (hydrocephalus);

• Compression of the cervical spinal cord;

• Thick lips;

• Enlarged tongue (macroglossia);

• Abnormal teeth (widely spaced and very thin enamel);

• Frequent ear infections (otitis media);

• Hearing loss;

• Frequent and recurrent sinus infections (sinusitis);

• Heart valve disease, especially aortic valve;

• Abnormal heart muscle (cardiomyopathy);

• Irregular heartbeat (arrhythmia);

• Angina;

• High blood pressure (hypertension);

• Poor circulation;

• Joint stiffness;

• Skeletal abnormalities (dysostosis multiplex);

• Abnormal hip formation (hip dysplasia);

• Bone deformities in the spine (scoliosis, gibbus, kyphosis), or knees (knock-knees or genu valgum).

Zachary suffers from a wide variety of these symptoms, so he has an extensive medical team comprising the following specialists monitoring and taking care of him: a paediatrician, pulmonologist, cardiologist, ophthalmologist, ear nose and throat specialist, neurologist, occupational therapist and speech therapist.

Unfortunately, treatments and specialists are costly, and the De Wet family’s medical aid covers very few, if any, of these.

“We are continually in need of funds for those additional expenses,” said Michaney.

The battle for treatment

Despite the initial adherence to an interim high court order for their medical aid to support the family, Zach’s parents, Michaney and Jacques, were shocked when their support was brought to an abrupt end despite the repeated legal orders, leaving them to shoulder the immense cost of enzyme replacement therapy (ERT) on their own.

His monthly treatment costs are exorbitant, and it is crucial to extend Zach’s life expectancy from his early teens to potentially his 50s.

Since the initial article in 2023, Zach’s case has faced many delays and challenges.

Despite the setbacks, the De Wet family has received temporary support from a few generous benefactors, allowing Zach to continue his treatment. However, this support is not sustainable long-term due to the high costs.

Michaney said that while the legal and financial battles have been draining, the support from specialists, Rare Diseases South Africa, and their legal team has been invaluable.

The next interim order appeal is set for November 2024, leaving a significant gap in urgent care for Zach.

Show your support

To address the ongoing costs, the De Wet family is planning several fundraisers and will continue to update the Fight For Zach online store with new merchandise.

They call on the community for continued support to cover Zach’s extensive medical needs and legal expenses.
Supporters can make a significant difference by following and sharing Zach’s story on social media, donating through Rare Diseases South Africa, or contributing directly to Zach’s medical fund.

Donations over R100 are eligible for a Section 18A tax certificate.

The donation details are:

Rare Diseases South Africa NPC

FNB account

Account number: 2562585532

Swift: FIRNZAJJ. Use ‘Zach’ as your reference.