#NBS4MPS | Newborn Screening for MPS 1-H

about

What Is Newborn Screening?

Newborn screening is a public health service done in each province and territory across Canada. It is a blood test performed shortly after birth, which checks for rare genetic, hormone-related, and metabolic conditions that can lead to serious health problems.

The screening tests for treatable health disorders that are not otherwise found at birth, since they typically show no symptoms in the newborn stage. Newborn screening allows physicians to diagnose infants quickly, and begin appropriate treatment as soon as possible.

In Canada, newborn screening is under provincial jurisdiction, with each province managing their own newborn screening program. Since individual provinces determine which conditions will be screened, screening varies province by province. This can lead to unequal care given to children across the country, with some children battling a serious genetic condition not being diagnosed in time to provide the proper care, including receiving treatments they need to potentially save their life.

gianna

Gianna’s Story

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.

stats

RARE DISEASE QUICK STATS

7000

Estimated Different Rare Diseases

Percent of Rare Diseases with Approved Treatments

Percent of Population Impacted By A Rare Disease

psa

symptoms

What Is MPS I-H?

There are many symptoms and associated consequences for patients suffering from MPSI. Until recently, management of symptoms was the only course of care for patients. Now, enzyme replacement therapy is available. For patients with MPSI-H, or Hurler Syndrome, bone marrow transplant early in life is the best course of treatment.

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.

Skeletal Symptoms

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.

Hearing Loss

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.

Specialist Care

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.

Surgical Interventions

In almost all cases of MPS I-H, patients need multiple surgical procedures. These may include skeletal corrections, heart valve replacements, and other procedures.

Decreased Endurance

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.

contact-a-parent

Talk To Another Parent

If you would like to talk directly with other parents of MPS I-H in Canada, please fill out your information and one or more will contact you as soon as possible. When things get stressful and tough, sometimes it helps to speak with someone in similar circumstances, fighting the same battle that you are.

At the same time, sometimes it’s just nice to connect! Whatever the reason, if you’d like to talk with an “MPS Mom or Dad”, we’ll connect you right away.

mps

Newborn Screening for MPS I-H

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.

quote

" The science is there to diagnose these children upon birth, and we have a moral and ethical obligation to do so. It will save countless lives."

Andrew McFadyen, Executive Director, The Isaac Foundation

matteos-story

help

Share Your Newborn Screening Story

We want to hear from you! If you would like to share your newborn screening story, please connect with us using the form below.

We’d love to hear your newborn screening success stories, like Gianna’s Story above. Did newborn screening detect a treatable disease shortly after birth, allowing your family to get the best treatment possible? How did newborn screening change the outlook of your child’s disease? Sharing your story could help other Provinces and Territories across Canada add specific diseases to their newborn screening panel and could help save lives.

We’d also love to hear how newborn screening may have changed the trajectory of your child’s disease had it been available at the time of their birth.

Your stories matter, and will help save lives, and we thank you in advance for sharing.

NewbornScreening