Today, there are roughly 7,000 different types of rare diseases affecting approximately 2.8 million Canadians.

“Some of the diseases certainly may cause you to maybe be disabled, some diseases may affect your neurological cognitive function,” says Durhane Wong-Rieger, president and CEO of the Canadian Organization for Rare Disorders (CORD). The single thing that all kinds of rare disorders have in common, is that they’re very hard to diagnose. For some, it can take years to identify. “The doctor may or may not agree there’s something wrong, nobody will know what it is, and it many take many years in chasing down specialist after specialist, and test after test,” she says.

CORD is an umbrella organization for rare disease groups across Canada and works alongside governments, industries, clinicians, and researchers to develop treatments and services to for all rare diseases nationwide. Currently, CORD is working on developing an orphan drug policy in Canada, says Wong-Rieger, “which would increase access to drugs for rare diseases for Canadians and also improve the access to these drugs ... so that patients can actually have these drugs covered under the drug plans because most of them are quite necessary.”

An orphan drug refers to the medication used to treat rare diseases. “They’re called orphan drugs because in the past, companies and researchers who were developing these drugs ... would often abandon them because it cost so much to develop the drug,” she says. There is no direct cure for existing rare diseases and, according to Wong-Rieger, the medication that is prescribed simply treats symptoms linked to the disorder (headaches, inflammation, etc.) However, there is no actual treatment for the disease itself, thus explaining the significance of a drug policy.

Wong-Rieger describes today as the most exciting time for orphan drug research and development.

“Certainly, 30–35 years ago nobody paid attention to them,” she says, “but now, especially with the orphan drug policies that have taken place in the US, Europe, and coming into Canada, there’s a renewed interest in financial support for research and development on these rare diseases.” Additionally, the increasing interest in genetics today is a benefit since 80 per cent of rare disorders are genetic. “Now that we’ve mapped the human genome,” she says, “we know how to identify many cases genetic defects and there’s a huge amount of interest in it and lots of money is going into it.”

Along with cancer research, development of rare disease treatment is considered the fastest growing interest in terms of healthcare.

“It’s an amazing time for people with rare diseases because, like I said, up to a few years ago nobody cared and no one did anything,” says Wong-Rieger. “Twenty-five years ago, people thought of rare diseases as people with two heads or something and they had no idea what we’re talking about.”

Since the public, governments, and researchers have become better aware of the existence of rare diseases, there has been an even bigger push to find cures.

We take a look into the lives of three women, living and working with three different rare diseases. They take us through their diagnosis process, and share their fears on how they believed this would ultimately affect their careers and personal lives.

Carrie Gallagher, account manager, health and wellness trainer

granulomatosis with polyangiitis (GPA)

One in 25,000 people

It took four years for Carrie Gallagher to finally understand that she suffered from more than just a sinus infection. Gallagher, an account manager and health and wellness trainer for Balancing Life’s Issues, suffers from a rare disease called granulomatosis with polyangiitis, (GPA for short). Affecting roughly one in 25,000 Canadians, GPA is an autoimmune disease that damages the small blood vessels of the kidneys, lungs, sinuses, and other organs.

Gallagher says that as an active individual who exercised regularly and took kickboxing classes, she knew something was wrong when she began to feel ill and experienced dizziness and rashes.

“I just never felt right; this went on for about three or four years,” she says. “I was constantly feeling like I had a sinus infection and just a terrible cold because I’d be stuffed up all the time out of the blue and then it would go away the next day.”

Looking for answers from specialists, Gallagher says that, for years, no doctor had any idea what it might be. It wasn’t until an evening in early January 2012, when Gallagher began to cough up blood, that a diagnosis arrived.

“It was really blood in my lungs from blood vessels bursting from the disease,” she says, after doctors had initially thought she suffered from pneumonia. After rushing to the emergency room, she was finally diagnosed with GPA within 24 hours.

For the last year and a half of living with GPA, Gallagher says she always promised herself to be positive.

“I think, of course, it’s very scary, especially at a young age and especially in terms of a career,” she says. “I think the advice that I would give to people is when something happens (like illness or death), just look at the positive of it.”

Gallagher attributes her strong support system for helping her deal with GPA.

“At the time, I was dating my then-boyfriend … so he knew me when I was normal, healthy, and graduating from college, then the stage of not feeling good all the time, and of course … when I was diagnosed.”

Gallagher is proud to say she is medicine free today, after months of taking Rituxan and a high-dosage of Prednisone, (a type of steroid). Frequent visits to her doctor for blood work and specialist appointments have kept her away from needing the medication today.

“The best way to say it is I live with it, I do things myself to maintain it,” says Gallagher. “So I try to maintain things I can control and my lifestyle just to be as healthy as possible in any way to help myself from flaring up again.” To accomplish that, she maintains a gluten-free diet to avoid any inflammation and makes sure she gets eight hours of sleep every night.

“I know it sounds silly but it’s really important to do these things because, when you’re living with something like this, the better the chances you are living without another flare.”  

Becky Dennis, author of Brain Wreck, chief marketing officer

encephalitis

5–10 per 100,000 individuals

Becky Dennis believes humour is the best remedy in coping with her rare disease. Dennis, an author and marketing guru, has been living with encephalitis (which, in layman’s terms, is the swelling of the brain), for the last five and a half years. Affecting up to 10 per 100,000 people, encephalitis can be acquired in many ways including car accident and bacteria. She contracted the disease through a mosquito bite; however, the diagnosis process was far from simple.

“It took them two and a half years, which was scary from a job perspective because I was constantly at the doctor’s appointments,” she says. Initially, Dennis’s doctor had believed she suffered from a stroke or may have had multiple sclerosis. But finally, after meeting with a doctor in Boston, Dennis was diagnosed with encephalitis.

The onset experience of the encephalitis had been a scary time for Dennis.

“I was very afraid; the first six months I was very ill and was sleeping probably 16 to 18 hours a day,” she says. “So I would have to set an alarm for the meetings that I absolutely couldn’t miss.” Along with the sleepiness, Dennis says she felt confusion and short-term memory loss. She had a difficult time with everyday tasks, like fixing her hair or remembering how to simultaneously walk and talk.

“The onset is the most severe part of the illness itself; then if you start to recover different things start to come up,” she says. “I look at my encephalitis as a blessing and a curse because a lot of people have recovered quite well, but the curse is a lot of my symptoms are invisible to most people, so they don’t see how hard I have to work.”

As a marketing officer, Dennis’ job description relies heavily on meetings and presentations.

“People ask me a multi-part question, so I have a pen handy to write down multiple parts of the question,” she says. “It’s sometimes a scary experience because when you’re doing presentations and somebody asks you something, in my head I’m like ‘could you please not do this to me?’”

Despite the symptoms­—the confusion and loss for words at times—Dennis strives to be a role model for others.

“If there’s anything I need to offer right now, it’s being that voice because I am more capable than a lot of other people who have survived this.” She says she’s always been the type of person to laugh even at the toughest times. “I guess I’m thankful that my sense of humour wasn’t compromised because that’s what really helped me get through.”

Soania Mathur, family physician

young onset Parkinson's disease (diagnosed under 40 years old)

Affects five to 10 per cent of those diagnosed

“Mine started off as a tremor in my right pinky finger,” says Soania Mathur, family physician. For the last 15 years, Mathur has been living with Parkinson’s disease, and for 12 of those years she has practiced as a family doctor, a career in which she continued to pursue at the time of her diagnosis.

Parkinson’s disease affects about one in every 100 people over the age of 60, so it occurs more often than a rare disease. What makes Mathur’s diagnosis unique is that she discovered she was living with Parkinson’s at 27 years old. Affecting only five to 10 per cent of those diagnosed, Mathur has what is referred to as young onset Parkinson’s disease, which includes anyone with the disease under the age of 40.

At 27, just as Mathur wrapped up her studies in family practice and readied herself to pursue a career in the field, she was diagnosed with Parkinson’s disease.

“[The tremor] was just intermittent and very occasional, so of course, being a doctor I ignored it until it spread to the rest of my hand and ultimately my arm,” she says. “By the time it became more persistent in my right hand, I went for an evaluation from a colleague of mine and he diagnosed young onset Parkinson’s disease at my clinical exam.”

Unsure of how this would affect her career, Mathur says she went into denial.

“It was very difficult, but I ended up practicing for 12 years with the Parkinson’s. For the first two years it was manageable,” she says. “It was difficult to help my patients through their issues when I was dealing with trying to hide my own.”

At the 11-year mark of her career and life with Parkinson’s, Mathur says she decided to temporarily put her practice on hold. “I went on short-term disability for about three or four months just because I was burning out.”

She decided to work part-time in attempts to slowly make her return back into the field, but her worsening symptoms and side effects to the medication, (which can sometimes be worse than the symptoms themselves), kept her from practicing.

“My husband said ‘you’re just going to drive yourself into the ground,’ essentially minimizing the productive life I’ll have after,” says Mathur. “My neurologist basically put it this way to me: ‘do you want to walk out of the office or do you want to crawl out?’ I said I choose to walk out and it just became unmanageable to work so that’s why I left.”

Although Mathur falls in that five to 10 per cent, she continues to strive to live a positive life for herself and her family.

“For my children, I think it’s important for them to see a positive role model … to understand that they will face obstacles in their lives,” she says. “Ultimately how they approach those obstacles will define them as human beings and strong women that I hope they will be.”

Facts and figures

• One in 12 Canadians live with a rare disease, which equals roughly 2.8 million Canadians.
• 300 million people worldwide live with a rare disease.
• About 80 per cent of rare diseases are genetic, and 50 per cent affect children and infants.
• February 28 is World Rare Disease Day and Canada first celebrated it in 2008.

Photo: Pay404 Media/iStock