Start Treatment for Zachary

Zach is happy, incredibly busy, and loving every moment of life. To Zach, the world is full of possibilities and endless fun. But shortly before his second birthday, in March 2021, we got the news that Zach’s life will be nothing like we expected.

Zach was diagnosed with MPS II (Mucopolysaccharidosis Type 2) also known as Hunters Syndrome. This disease only occurs in between 1 in 100,000 to 1 in 170,000 male births.

In Simple Terms:

Zachary was born with a condition where his body is unable to produce specific enzymes that are needed to break down certain sugars.

Over time this progresses to the point where many bodily functions are affected, including heart and brain function, along with other physical deteriorations.

In most cases, kids affected by MPS II will end up dying between the ages of 12 and 15 years without treatment.

Without treatment and with delay in treatment his organs, bones, joints, and brain will be affected sooner, and the damage caused will become increasingly irreversible.

There is no cure for MPS II however there are treatments which can help with the management of the disease.

ERT (Enzyme Replacement Therapy) being the most effective at this point.

What this involves is a weekly infusion of the enzyme directly into the bloodstream in a procedure that would take about three hours per session.

Zach will need these weekly infusions for the rest of his life.

With treatment, Zach may be able to live up to 40 and possibly older if treatment advances in the years to come.

Our Urgency

Because there are no two MPS II patience whose conditions progress at the same pace, it is difficult to know how quickly his body will begin to deteriorate.

This means that the sooner we can begin treatment the better. Each day of uncertainty and inaction could potentially take weeks, months or even years off his life expectancy.

At this point we have appealed to the Medical Aid to pay for treatments and have received two rejection letters to date.

We are now in the next phase of this process that could take several months with lengthy legal proceedings.

Why rely on Medical Aid?

The cost of the treatment starts at R100,000.00 per month or more than R1.2 million per year. Excluding annual tests, check-ups, operations, and other medical expenses.

Our Need

Right now, we are just wanting to get the treatment started, with the hopes of getting ahead of the effects of this disease.

We would like to raise a total of R500,000.00 (±$35,000.00) in round one to get us through the rest of 2021.

We know that many hands make light work, so even a share would be appreciated if a financial donation isn’t possible.

We’re Already Grateful

This is a little bit of our story thus far.

When Zach was just under a year old, we took him to the ENT for grommets.

We thought nothing of it as our daughter also needed grommets at an early age.

Our ENT, Dr Duane Mol, had a closer look at Zach on the day of the operation and mentioned that he saw a slight resemblance to kids with MPS in the features of Zach’s face and body but that we shouldn’t be overly concerned just yet. And that we shouldn’t Google it…which we did.

Almost a year later Zach needed another set of grommets and again we visited Dr Mol.

Upon this visit, Dr Mol decided it would be best to test for MPS just in case because early diagnosis can make a world of difference.

We were put in contact with paediatrician and pulmonologist Dr Ashley Jeevarathnum.

We were surprisingly comforted at our first meeting with Dr Ashley. He had already made provisional contact with several specialists and prepped an extensive network of people that would help us with this journey IF the tests came back positive.

We proceeded to go for test after test and after a few weeks had all the results. Zach is positive for MPS II.

This hit us like a ton of bricks. And now we begin the journey to treatment.

We visited several specialists, seeking written reports of how Zach was progressing at his age and what impact the disease may already have had on his little body.

Once we received all the reports, we had two incredible organisations reach out to the medical aid to advocate on our behalf.

The amazing people that we have had around us has been a blessing we could have never imagined, and we are truly thankful to you all.

We know that there are still many more people that will impact our journey as a family, and we are grateful to you for taking the time to hear a bit of our story.

The Technical Side:

It is estimated that MPS II occurs in between 1 in 100,000 to 1 in 170,000 male births. MPS is a disorder in which at least one long-chain sugar carbohydrate called glycosaminoglycan (GAG) accumulates in the lysosome, an organelle within cells. In healthy individuals, GAGs are used in the building of bones, cartilage, skin, tendons, and many other tissues in the body. As more GAGs are produced, older GAGs get broken down; this is the normal cycle of events that maintains a healthy balance in the body. However, when this cycle does not function properly and GAGs are not broken down, they accumulate within the cells. As a result, MPS II affects many organs in the body.

This malfunction results in progressive, sometimes permanent, cellular damage that affects the individual’s physical abilities, proper functioning of organs and systems, appearance, and, in most cases, cognitive development.

Some complications arise early in childhood, while others present much later or may never occur. As yet, there is no cure for individuals affected by MPS II, but there are ways to manage the challenges they will have, and to ensure the best quality of life.

The goals of managing MPS II are to improve quality of life, slow down the progression of the disease, and prevent permanent tissue and organ damage. Early intervention may help prevent some irreversible damage. There is a treatment available for MPS II, given by an intravenous (IV) infusion, ERT (Enzyme Replacement Therapy) provides an external source of the deficient enzymes. The enzyme travels through the bloodstream and enters cells in various organs where it helps break down GAG build-up.

ERT treatment is generally well tolerated but must be delivered weekly for continued effectiveness. Without treatment and with delayed treatment children with MPSII usually pass away between the ages of 12 to 15 years.

Thank you again for taking the time to share in our story.