HSAA donation helps promote rare disease through family fun
I would like to thank the HSAA for their donation to The Canadian Society for Relapsing Polychondritis to support their Family Fun Day.
The event was held on Saturday, June 8, 2019, at Aldergrove Community League from 11:00 a.m. to 3:00 p.m. The day consisted of a Silent Auction, Adventure Bus, Virtual Reality, Board Games, Stamp Workshop, Yoga, Face Painting, Balloon Twisting, Dance Contest, Fairy Garden Workshops and a Zumbathon.
What is Relapsing Polychondritis? Relapsing Polychondritis (RP) is a rare, systemic, potentially-fatal inflammatory disease of unknown etiology.
The Canadian Society for Relapsing Polychondritis (CSRP) works to bring awareness to the rare disease through educational campaigns, medical conferences and advocacy in the rare disease community. It is estimated that three in one million are affected by RP. A rheumatologist is usually the primary specialist for RP patients.
It is extremely difficult to diagnose RP with no known disease-specific biomarkers. Signs and symptoms are used to diagnose RP. RP causes destructive inflammation of the cartilage and other connective tissues throughout the body, including internal organs.
In 2015, the Chair/Co-Founder of the CSRP, Gonnie Imeson, was first diagnosed with RP, after years of symptoms and misdiagnosis. She quickly realized that there was little research on RP, and even less support for patients in Canada.
After joining the Relapsing Polychondritis Awareness Foundation (RPASF) in the United States as the first Canadian advocate, Gonnie realized there must be a more efficient way to support her fellow Canadian patients. She was introduced to Grace Alarcon-Isla, a mother of an RP patient, and in 2017 the CSRP was formed.
Since then, the CSRP has supported several patients with their RP journey and has awarded six travel bursaries, which allowed patients in remote areas to travel to various specialists without worrying about travel costs.
Additionally, the CSRP bursary has also assisted patients with travel costs associated with participating in the first RP clinical research study in Bethseda, MD. Ultimately, the CSRP would like to continue the education and awareness of RP, and ignite interest in conducting a RP study in Canada.
Here is the journey of a young RP patient, as told by his mother.
Grace Alarcon-Isla is worried about her son. When Adam was diagnosed with RP three years ago, at the age of 15, his rheumatologist had taken charge and co-ordinated his care using a multidisciplinary approach. However, that changed when he turned 18.
“Now he’s an adult,” Grace says, “and in Alberta, that means that he has to be in charge of his own care.” For a typical teenager, that responsibility would be a minor inconvenience, but this transition will not be easy, given the complexity of Adam’s medical history.
Growing up, Adam had health problems that were odd but reasonably explained by his doctors. When he complained that his eyes hurt but his vision tests were normal, they guessed that he was trying to emulate his friend, who’d just gotten a new pair of glasses. When he had trouble breathing despite playing outside every day, even in the sub-zero Alberta winters, they assumed it was asthma, which both his parents have. And when he had a case of what looked like hives, it disappeared after a dose or two of Prednisone, so it wasn’t a big concern.
However, when he was 15, Adam developed a lump on his ear that the family doctor couldn’t explain, so he referred Adam to four specialists: dermatology, surgery, oncology and ENT. The first appointment was with the ENT, who pushed it back because he was out of town. “Well, thank goodness for that because he and his whole staff were at a rare disease conference,” says Grace.
For what she thought would be a routine visit to the doctor in Edmonton, Grace had driven eight hours from her home in Rainbow Lake. Now, the doctor was saying that her son needed to be admitted to the hospital as soon as possible.
“You haven’t done any blood work,” Grace thought, “and you haven’t even touched him, but you’re telling me he has this type of disease.” Over the next five days, a stream of rheumatologists, cardiologists, respirologists and urologists examined Adam.
To Grace, this attention seemed like overkill. “They probably were explaining what was going on, but between the jet lag, the chaos and having to organize my other three kids, it didn’t register,” she says. Eventually, Adam was discharged, but bouts of extreme pain would send him back to the emergency room. One time, he refused to let the medics in the ambulance touch him because he felt like “there was electricity going through his body,” says Grace. Eventually, he had to be restrained and sedated.
To further complicate his treatment, Adam discovered that most painkillers give him crippling withdrawals, and now that he’s an adult, Grace worries how he’ll manage both his pain and the disease. “He’s had several experiences with adult emergency rooms where the doctor will not give him medication because he’s on 24, 25 different medications, and the doctor doesn’t know which one will be interfering,” she says. Then you get another doctor saying, “You’re in the wrong hospital. We need to transfer you.” And then you get another doctor who says, “I’ll just treat it with opioids because you’re in so much pain.”
If Adam had another disease, Grace knows that he’s responsible enough and smart enough to manage his own care, but RP is different. “In rare disease, everyone’s guessing,” she says. “Adam is not a very verbal, vocal and insistent person like I am. When I go to a medical facility, I ask so many questions.” However, at the National Institute of Health (NIH), Grace doesn’t have to be so proactive.
Last year, to finally get confirmation of diagnosis and a treatment plan, Grace and Adam traveled to Washington, D.C. and Adam is scheduled to return every six months for follow-up evaluations. Eventually, Grace hopes that he’ll be able to make the trip on his own. “He’s very good at verbalizing what symptoms he has and how drugs react to him,” she says, “but sometimes he misses things that doctors tell him.”
Thanks to a grant from the Friends of Patients at NIH, the travels costs for Adam and his mom are fully covered, but unfortunately, he can’t always be at the NIH. So, while Grace prepares him to assume full responsibility for his care, she also continues to advocate for RP patients and families, including partnering with international RP networks and rare disease associations. However, until a cure is found, the next best thing is the NIH, where all of her son’s needs are taken care of without him needing to ask.
As you can see from this article RP can be a very difficult disease to diagnose and manage. Every RP patient is different; they may have some, but not all, of the following symptoms:
- Ear pain, which may include swelling and redness
- Nose pain, which may include swelling and redness
- Throat pain, which may include change in voice, shortness of breath, dry cough
- Red, painful, swollen eyes
- Rib pain and tenderness
- Joint pain or swelling
If you would like more information about this disease, please contact The Canadian Society for Relapsing Polychondritis at www.polychondritis.ca.
Health matters to all of us. Let’s not put it at risk.