Newborn Screening for MPS I-H can save lives, like Gianna’s, and should be added to newborn screening panels across Canada. Currently, only Ontario tests for MPS I-H on their newborn screening panel.
Working together, The Canadian MPS Society and The Isaac Foundation implore governments across the country to immediately add MPS I-H to their newborn screening testing.
It’s the moral and ethical thing to do, and will save countless lives. Please contact The Canadian MPS Society today to see how you can support us as we work to make this happen.
Heart and Airway Disease
People suffering from MPS I-H can develop respiratory failure, severe sleep apnea, and upper airway collapse. Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves.
People with MPS I-H may have a wide range of skeletal symptoms. These can include shortened stature, bone deformities, carpel tunnel syndrome, and multiplex dysplasia.
Usually common in the second decade of life, hearing loss can be progressive and severe.
Eye and Vision Issues
Common in many other forms of MPS, people with MPS I-H may also develop corneal clouding and a debilitating decrease in vision. Night vision can also become an issue for MPS I-H patients.
Brain and Cognitive Impairment
People with MPS I-H, or Hurler Syndrome, will experience significant cognitive decline Patients may also suffer from hydrocephalus.
Patients battling MPS I-H often visit numerous specialists to help manage their disease. These can include, but aren’t limited to, MPS Genetics Specialists, Neurologists, Ophthalmologists, Orthopaedic Specialists, Cardiologists, ENTs, Pulmonologists, and Rheumatologists.
In almost all cases of MPS I-H, patients need multiple surgical procedures. These may include skeletal corrections, heart valve replacements, and other procedures.
Studies have shown that endurance of affected individuals is impacted greatly due to the progression of the disease. Endurance has an impact on all facets of life. Recent clinical trials have shown a significant increase in endurance for all patients receiving enzyme replacement therapy.
Newborn Screening for MPS I-H in Canada is imperative to ensuring those diagnosed have the best prognosis, health outcomes and quality of life in their future. It is the responsibility our healthcare system to implement this disease into newborn screening panels. Not only will early detection for MPS I-H allow for life-altering interventions, it will also prevent the diagnostic odyssey and allow for informed reproductive decisions for the family going forward. The combination of the improved performance of screening tests & improved health outcomes with early diagnosis and intervention call attention to the responsibility that Health Canada and Provincial Health Ministers have in ensuring young Canadians are protected, and healthcare as a human right is realized. Kim Angel, Executive Director, The Canadian MPS Society
We Can Save Lives
MPS I-H, also known as Hurler syndrome, occurs when an enzyme called alpha-L-iduronidase (IDUA) is missing or not properly working. IDUA is important in helping break down cellular waste. When IDUA doesn’t function properly, this waste accumulates in cell lysosomes, which leads to many devastating symptoms, including heart and airway disease, bone and joint disease, corneal clouding, shortened stature, significant cognitive impairment, and premature death.
Newborn screening can be used to detect MPS1 in an infant. Newborn screening detects MPS I-H by looking for IDUA enzyme activity. IDUA enzymes are typically active in a healthy newborn’s blood. Since infants with MPS I-H have IDUA enzymes that are either missing or not working, their enzyme activity will be reduced.
If a child has a positive screen for MPS I-H through a newborn screening program, it does not yet confirm an MPS I-H diagnosis. Further diagnostic testing will be done in order to confirm the diagnosis. The follow up genetic testing can take days to weeks to determine if an infant has MPS1. Newborn screening is crucial in order to ensure these tests can be done as soon as possible to ensure infants who test positive can begin treatment immediately.
Early screening and diagnosis can prevent serious health problems, including developmental disabilities, breathing, and hearing problems. In addition, early detection of the disease can save lives and prevent serious health problems. This allows for earlier initiation of therapy, which is associated with an increase in positive health outcomes. Finally, early detection avoids the “diagnostic odyssey” commonly experienced by patients and families who are diagnosed with a rare disease. Kim Angel, Executive Director of The Canadian MPS Society says “MPS-I-H causes progressive intellectual decline and when untreated, patients typically die within the first decade of life. MPS I-H is often misdiagnosed in the first years of life and most families endure a exhausting and anxiety-inducing diagnostic odyssey, where progressive and irreversible damage ravages on in the child. There is clear evidence that early-onset therapy for MPS I-H is most successful when initiated within the first two years of life. These interventions have been proven to significantly improve the outcomes of MPS I-H patients.”
Currently, Ontario is the only province in Canada with MPS I-H on the newborn screening panel. We implore the rest of the provinces and territories to follow suit and add this to their regular newborn screening tests.