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rare diseases: 'it can take an average of five years for a diagnosis'
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"advocacy work can sometimes be very thankless, relentless and exhausting," says kim angel, executive director of the canadian mps society. getty
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to mark rare disease day on february 28, some of canada’s top rare disease advocates share how advocacy became a part of their lives, what they are fighting for and how they find optimism in difficult times.
mucopolysaccharidoses (mps) are rare, progressive genetic disorders where a specific enzyme is missing, preventing mucopolysaccharides from breaking down. there are seven distinct subtypes of the disorder, which means it can present itself in many ways, with frequent symptoms being enlarged liver and spleen, skeletal issues and vision impairment.
healthing spoke with kim angel, executive director of the canadian mps society, to learn more about the disorders and her life as an advocate.
this interview has been edited for length and clarity.
what is the prevalence of mps?
globally, the number is one in 25,000 live births, however, some subtypes are very rare. for example, there are only a handful of patients across the globe with mps vii.
what are some challenges faced by the mps community?
it’s a little better now, but equitable access to treatment is one challenge. there aren’t many mps clinical trials — especially for gene therapy in canada — so it can be very challenging to get patients access to international sites for clinical trials. some forms of mps have neurocognitive presentations, and there are no treatments for these. there’s a lot of research being done in this area so we’re hoping in the next 10 years — hopefully even sooner — we’ll have therapies on the market for mps patients who are neurocognitively affected.
there also needs to be more support available to caregivers and families of these children. it’s a debilitating disease so a lot of the time one parent can’t work anymore because they have to look after their child.
it’s also very hard to get an early diagnosis. on average, it takes about five years for a correct diagnosis, during which time there is irreparable damage that has happened.
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what is one thing the canadian mps society does that you’re particularly proud of?
we offer financial assistance to our members through the family assistance program for out-of-pocket expenses that insurance doesn’t cover. this could range from home renovation costs to travelling to get medical treatments. that’s one thing we’re very proud of. it’s not a huge amount, but it really does help when families are trying to keep up with the bills, as well as take care of their child.
we’re also in the process of starting a program that is designed to support the mental, emotional, spiritual and physical needs of caregivers and parents. we’re at the early stages so we’re developing a parent and caregiver advisory council who will help to develop the framework. the end goal is to create a network of resources that are available to families in times of distress.
“whenever i get down about anything, i look at the families we serve and what they go through on a day-to-day basis, and it really helps to put things into perspective,” says kim angel, executive director of the canadian mps society. supplied
tell me about an advocacy victory.
we advocated for mps i to be on the newborn screening panel in ontario, and we had our first child diagnosed from that panel receive treatment right away. the child is in excellent condition, so we see this as a huge achievement. now we’re advocating for every province and territory to add mps i to its newborn screening panel. the u.s. is adding mps ii to their newborn screening so that will be our next initiative.
what does the mps community need to thrive?
forming connections with other families is truly important. it’s such a rare disease that having those connections can make a big difference and make families feel less alone.
advocating for rare diseases can be tough. what advice do you have for other advocates?
i would say acknowledge the fact that it’s hard work, and that sometimes it can be very thankless, relentless and exhausting. but keep chipping away. every little bit helps, you just have to keep going. for me, the most important fact is remembering who i’m helping. being in contact with the families and hearing their stories and getting to know them really drives me to keep advocating.
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how has your experience working with the canadian mps society changed you on a personal level?
it’s helped me put my own life and challenges into perspective. whenever i get down about anything, i look at the families we serve and what they go through on a day-to-day basis, and it really helps to put things into perspective for me.
what do you do for self-care?
i’m most at peace when i’m in the water. i also like to go to the beach with my dog and do yoga.
what is your favourite treat?
wine gums! i spend a lot of time in mexico and whenever i come here, i bring a couple pounds of wine gums with me.
vanessa hrvatin is a b.c.-based freelance writer.
interested in other stories about rare disease advocacy? read about catherine boivin’s life as an advocate for people living with spinal muscular atrophy, john clark’s work in the myeloproliferative neoplasms community, and why riyad elbard is fighting for canadians living with thalassemia.
february 28 is rare disease day, a global movement focused on improving equity in social opportunity, health care, and access to diagnosis and therapies for people living with a rare disease. to find out how you can support canadians living with rare diseases, visit the canadian organization for rare disorders.
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