Our Why

Who is Robert?

Robert is a fun-loving 10-year-old boy who has never met a stranger. Since being diagnosed over 7 years ago with Mucopolysaccharidoses IVA (Morquio Syndrome), Robert has grown less than 2 inches per year, had 7 surgeries, undergone over 400 5-hour infusions, and faces new health challenges every day. Yet despite those obstacles, ask anybody who knows Robert, and they will beam describing his larger-than-life personality, on-point humor, total disregard for his ailments, and inspirational character.

The Severe Effects of Morquio Syndrome

This disease is a rare genetic disease that prohibits the body from breaking down certain sugars. It is severely progressive, and the effects of the disease will get significantly worse with time. The disease affects about 1 in 200,000 people, but the effects are felt in communities through the United States and world. There is one treatment available- a slow weekly intravenous medication that disruptive, expensive, causes adverse reactions (many cannot take it), and worse, has been proven to have limited effects.

Just a decade ago life expectancy for a child with Morquio would be about 20 years old. While recent surgical advances should help to extend Robert’s life expectancy (see below), the effects of the disease and extreme short stature are real and apparent.

Robert has already gone from a very coordinated 2-year-old in the 25th growth percentile to a 10-year-old who, simply put, cannot keep up with peers, endures hours of physical therapy, fights to climb a flight of stairs, and does not register on the growth chart.

While most children Robert’s age play carefree and participate in sports, Robert has, with rare complaint:

• Had a port surgically implanted in his chest (as a 2-year-old);
• Undergone over 350 weekly 5-hour enzyme replacement treatments through his port (and outside of some soft tissue and energy impacts, has likely had limited effect);
• Spent 6 months in a neck brace (as a 4.5-year-old) and had 4 vertebrae surgically fused to protect his spine from severing his spinal cord; and
• After turning 6, had major hip and leg reconstruction in which new hips were created from grafting, pins were inserted in his ankles, and plates were put in his knees, all of which required 6 weeks in a body cast and a year of physical therapy to re-learn how to walk.
• At age 7 and 8, had surgeries to remove some of the hip and knee hardware.
• At age 10, had surgery to place hardware to correct his genu valgum (knock knees)

And this disease does not stop with effects to the bone. Robert will suffer (and has suffered) from numerous other health defects to his “soft tissues”, including life-threatening trachea, heart, lung, and spinal cord issues, together with hearing and eyesight loss, compromised immunity and low energy.

In summary, Robert’s body fails him every day, and despite all the surgeries continues to get worse right in front of our eyes. He will have limits on his quality of life and likely, a more limited life expectancy.

Successes

Several of our funded studies have already yielded promising results, and we are incredibly excited that two projects supported by A Cure For Robert, Inc. have been approved for clinical trial:

• One is the first ever gene therapy clinical trial for Morquio. A Cure For Robert, Inc. assisted with the government application by pledging its financial support and attesting to the need for new effective treatments (see: https://nemours.mediaroom.com/FNIHMorquioAClinicalTrial).
• The second study began in 2024 and will attempt to repurpose a current FDA approved drug originally designed for another disease and which researchers are cautiously optimistic may help spur some growth for Morquio patients.

While these trials are wonderful and are providing some Hope to the Morquio Community desperately in need, both will likely only serve as steppingstones to newer and better treatments. Continued funding is absolutely critical.

Our Ask

We live in unparalleled times where miraculous medical advances not only can happen, but with meaningful financial assistance are actually happening. Please help us, Robert’s parents and founders of A Cure for Robert, Inc., along with countless friends, board members, and family fill the void that currently exists for new treatments, medicines, and advancements for this very rare disease.

We must succeed. This is about our child and thousands of others around the world who need our assistance and are looking for Hope.