Our Why
Who is Robert?
Robert is a fun-loving and super sweet 8-year-old little boy who has never met a stranger. Ask anybody who knows Robert, and they will beam describing his unique personality, total disregard for his ailments that disrupt his everyday life, and inspirational character. Despite his larger-than-life personality, since being diagnosed over 5 years ago with Multipolysacharides IVA (Morquio Syndrome), Robert has grown less than 2 inches per year, his growth rate is declining, and he consistently faces new health challenges.
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 7-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. At the current rate he may not reach 3.5 feet tall.
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 300 weekly 6 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) while 4 vertebrae were surgically fused in an effort 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 screws were put in his knees, all of which required 6 weeks in a body cast and continuous physical therapy to re-learn how to walk. He has had and
will continue to have outpatient surgeries to remove/tweak the hardware in his legs and hips.
Further, this disease does not stop with effects to the bone. Robert will suffer (and in some instances, has already 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
We are very proud to state that two of these research projects we have supported are already going to clinical trial. One study has been publicly announced, and A Cure For Robert, Inc. was an integral part of the government application, both to pledge support and attest to the need for new effective treatments (see: https://nemours.mediaroom.com/FNIHMorquioAClinicalTrial). The second study going to clinical trial should start in 2024, but we are very excited (and the Morquio community will be excited) once it is and what the researchers believe can happen. While these studies are wonderful news, both will be stepping stones to newer and better treatments and continued funding will be absolutely critical.
Our Ask
We live in unparalleled times where real medical advances not only can happen, but with the significant amounts of financial assistance are actually happening. Please help us, his 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.
