Rare Disease Day 2014

What is a rare disease?

A rare disease is defined as a condition affecting fewer than 1 in 2000 people. There are more than 7000 diagnosed rare diseases and many more undiagnosed diseases. Close to 3 million Canadians have a rare disease. In North America, NMO affects 4 in 100,000 people. Currently Canada has 2000 NMO patients. 200 of those NMO patients reside in British Columbia.

How does having a rare disease affect patients?

Financial and administrative barriers deter physicians, researchers and scientists from submitting funding requests for small patient markets. Standardized drug trials require a certain number of subjects for a specified length of time. Due to the small patient market of a rare disease population, there are limited drug discovery initiatives funded by pharmaceutical companies. Therapies may be available but are not distributed or developed further due to the limited demand.

This means that the drugs available to a patient are severely limited and often the drugs used to treat their diseases are used “off label”, meaning they were developed for a completely different illness. This can lead to a lack of drug coverage by the Canadian government.

For example, the current drug therapies approved in BC for NMO are two immunosuppressant drugs in pill form, which were developed as anti-rejection drugs for kidney transplant patients. A third drug which is administered as an infusion is being used in the US, but does not currently have coverage in Canada. If the two immunosuppressant drugs in pill form fail for any reason, there is no back up drug for an NMO patient to turn to. My NMO specialist in BC is working hard to change this by lobbying the provincial government for coverage.

Another big issue for people living with a rare disease is the lack of scientific knowledge and quality information on the disease, which can lead to a delay in diagnosis and/or inappropriate or a lack of care. Initial mis-diagnosis is common.

Drawing from my own experience, I was initially mis-diagnosed with MS, which is common for NMO patients. When I visit a hospital for any reason, I can guarantee that every single medical practitioner I come into contact with will need to be educated about what NMO is and how it affects me. I’ve given what I refer to as “A Crash Course in NMO 101” to up to 5 health care providers in a single visit. When you are sick, it can be exhausting having to do this.

So what can we do to support those living with a rare disease?

The most difficult part of living with a rare disease is feeling like you are alone. Knowing that others care is so important! You can help raise awareness-it’s really easy:

1. Visit Rare Disease Day to download a social media banner for your Facebook page or a profile picture for your Twitter. Rare Disease Day is on Friday, February 28th, but you can do this any time this week.

2. Share on your Facebook status update or Twitter post that you are participating in Rare Disease Day and invite your friends, family and followers to do the same!

3. Share a link back to this post on your blog, twitter or Facebook page.

4. Comment below to tell me you're participating and send me a link-I'd LOVE to see and to thank you!


For more information on NMO, please visit: The Guthy-Jackson Charitable Foundation.

Rare Disease Day 2013

Today is Rare Disease Day, world wide. It's a day to help raise awareness for disease that are life threatening or chronically debilitating, have a low prevalence and are usually incurable. In late November of 2012, I discovered I didn't actually have Multiple Sclerosis, but a rare disease called Neuromyelitis Optica. (Formerly known as Devic's Disease.)  NMO affects 5 in 200,000 people, making me a rare bird. 

Finding out that the MS diagnosis I'd lived with for 5 years, was incorrect was a relief. The relief came from finally making sense of why with all the aggressive treatment I'd had, I could not get into remission. It was also very scary. NMO is much more serious than MS in that the damage happens rapidly during an attack, can result in blindness or paralysis and has the potential to be fatal. I don't dwell on this though-given that I've lived with it for an incredibly long time not knowing and essentially not having the any treatment (the treatments for MS can actually make NMO worse) I feel confidant that I'm not going to keel over any time soon! It helps to know what I am dealing with so I can take the right drugs and treatments to hopefully mitigate further damage, but it doesn't change how I'm living my life. I am still out there pursuing my dreams, just like I've always have. You can't keep an Aries girl down!

I have had the great good fortune to be involved with the education of future health care providers through two programs I volunteer with as a health mentor at UBC. I started working with medical students 4 years ago and that work will continue. MS will always be a part of my story, but now I will also be helping to educating them about NMO. As I've learned through my own experience, awareness is crucial in the medical community. 

A week or so ago, The Guthy-Jackson Foundation, released "How Do We See In the Dark", narrated by Christine Ha, winner of Master Chef 2012, who also has NMO. It's a wonderfully uplifting video talking about the work that is being funded by the foundation world-wide in an effort to unravel the mystery of NMO in order to work towards better treatments and ultimately a cure.

If you've clicked any of the links I've provided in this post, thank you for taking a moment out of your busy day to learn more about NMO. I'd love it if you'd link back to my post, tweet it or like and share it on FB and help me spread the word.