Welcome to our family’s home base for sharing Simon’s MPS journey, building a community of support and fundraising for a cure.
When Simon was 2 years-old he was diagnosed with Mucopolysaccharidosis (MPS) Type 4A, called Morquio syndrome – a rare, progressive genetic disease occurring in about 1 in 300,000 live births.
How does MPS
impact Simon?
Weekly enzyme infusions
Every Thursday, Simon misses school to spend 8 hours on the couch while a home nurse administers his enzyme replacement therapy (ERT) – an intravenous infusion that provides a synthetic version of the enzyme he is missing. It’s given under the careful watch of a nurse because sometimes Simon has allergic reactions to the drug that have the potential to be life threatening. While this treatment slows the progression of the disease in many parts of his body, it is ineffective at correcting his bone and skeletal disease. We are so grateful to have treatment, but it is not enough. Because of these infusions, we cannot travel away from home for more than a week at a time.
Dwarfism
One of the most visible impacts of MPS on Simon is dwarfism. Simon will stop growing by the age of 10 and will not reach 4 feet tall. As a little person, he will always have to adapt to living in a world designed for average height people and tolerate comments, stares and judgment. As Simon gets older, his short stature will cause breathing and cardiac problems as his heart, lungs and trachea continue to grow while his skeleton remains small. Learning to live with the disabilities associated with dwarfism is just one of Simon’s many hurdles to conquer through this journey.
Bones, joints and mobility
Every bone and joint in Simon’s body is affected by MPS, resulting in a unique form of skeletal dysplasia that brings with it countless risks and mobility challenges. To manage the pain associated with walking and standing, Simon uses a scooter and push bike to get around and keep up with his peers. Eventually he will also use a wheelchair for longer distances. His vertebrae are rounded and therefore unstable and prone to slippage which means he can’t join his friends on trampolines or participate in any sports that involve contact without risking a spinal cord injury. Simon’s orthopedic surgeon is one of his most important specialists and regular x-rays, MRIs, and surgeries are just part of his norm.
Eyes, ears, heart and more
It’s not just Simon’s bones that are significantly impacted by MPS. It will also gradually cause damage to his eyes, ears, heart and other organs. His weekly enzyme infusions slow the progression of the disease in non-skeletal tissue, a small army of specialists follow him regularly to track any deterioration in the health of his eyes (ophthalmology), ears (otolaryngology and audiology), airway (respirology), heart (cardiology), and general health (biochemical pediatrics). Simon wears hearing aids to compensate for hearing loss in both ears caused by MPS.
Weekly enzyme infusions
Every Thursday, Simon misses school to spend 8 hours on the couch while a home nurse administers his enzyme replacement therapy (ERT) – an intravenous infusion that provides a synthetic version of the enzyme he is missing. It’s given under the careful watch of a nurse because sometimes Simon has allergic reactions to the drug that have the potential to be life threatening. While this treatment slows the progression of the disease in many parts of his body, it is ineffective at correcting his bone and skeletal disease. We are so grateful to have treatment, but it is not enough. Because of these infusions, we cannot travel away from home for more than a week at a time.
Dwarfism
One of the most visible impacts of MPS on Simon is dwarfism. Simon will stop growing by the age of 10 and will not reach 4 feet tall. As a little person, he will always have to adapt to living in a world designed for average height people and tolerate comments, stares and judgment. As Simon gets older, his short stature will cause breathing and cardiac problems as his heart, lungs and trachea continue to grow while his skeleton remains small. Learning to live with the disabilities associated with dwarfism is just one of Simon’s many hurdles to conquer through this journey.
Bones, joints and mobility
Every bone and joint in Simon’s body is affected by MPS, resulting in a unique form of skeletal dysplasia that brings with it countless risks and mobility challenges. To manage the pain associated with walking and standing, Simon uses a scooter and push bike to get around and keep up with his peers. Eventually he will also use a wheelchair for longer distances. His vertebrae are rounded and therefore unstable and prone to slippage which means he can’t join his friends on trampolines or participate in any sports that involve contact without risking a spinal cord injury. Simon’s orthopedic surgeon is one of his most important specialists and regular x-rays, MRIs, and surgeries are just part of his norm.
Eyes, ears, heart and more
It’s not just Simon’s bones that are significantly impacted by MPS. It will also gradually cause damage to his eyes, ears, heart and other organs. His weekly enzyme infusions slow the progression of the disease in non-skeletal tissue, a small army of specialists follow him regularly to track any deterioration in the health of his eyes (ophthalmology), ears (otolaryngology and audiology), airway (respirology), heart (cardiology), and general health (biochemical pediatrics). Simon wears hearing aids to compensate for hearing loss in both ears caused by MPS.
More about MPS
MPS is an inherited disease that is caused by the absence of certain enzymes the body needs to break down long-chain sugar molecules in our cells. Over time these molecules accumulate in every cell in the body which causes permanent and progressive damage in many different parts of the body.
In Morquio syndrome, this accumulation of molecules causes ongoing degradation of the bones, skeletal structure, connective tissues and organs. For more on the science behind Morquio, go to morquiosity.com.
While we are grateful that there is a life sustaining treatment that slows the progression of the disease, there is no cure . . . yet.
Learn more
Read our story about MPS Type 4A
and how it has changed our lives.
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