Updated: Mar 5
So today is Rare Disease Day! This year it is extra special and extra rare as it falls on a leap day! According to the NIH, a condition(or "Disease") is considered "rare" in the United states when it affects fewer than 200,000. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people. As many will know, I live with Parkes Weber Syndrome which is an extremely rare, progressive and life-threatening condition. This impacts my vascular, skeletal, digestive, nervous, muscular, immune and lymphatic systems and impacts me in many ways on a daily basis.
Living with a rare disease comes with many unique challenges such as minimal treatment options if any, and lack of funding for things like research, knowledge, treatment options etc.
Some of the things I endure on a daily basis because of Parkes Weber Syndrome are..
Pain: I wake up and go to bed every day in some degree of pain, pain that can't be remedied by pain meds; however I have thankfully come to learn my service dog helps immensely with my pain. I wake up some mornings (if I’ve been able to get any sleep) unable to walk because of this pain or because my leg is swollen and stiff or because my leg has gone into spasm; however I still manage to push myself, get up, dress up and show up to whatever I may have to do that day... even if that means some days I have to use a wheelchair and that’s okay!
Bleeding: I spontaneously bleed from Arterial venous malformations(AVMs) in my right leg and foot. These bleeds often take a VERY long time to stop, I lose a lot of blood and more often than not end up having to be rushed to hospital. These bleeds can happen for no reason at all or happen due to things like my foot being stepped on or barely hitting my leg or foot off of something (hard enough that the average person may get a bruise). Wounds: At any point I can have wounds form on my leg or foot. These are often very difficult to heal, but thankfully we have learnt about the power of the paw! I had open wounds on my foot for over a decade due to my skin essentially disintegrating due to AVMs. I saw specialists in Canada as well as the top specialists internationally. I tried every treatment possible from debridements to different types of wound care dressings and nothing seemed to help.. UNTIL I got my former service dog, Paddington. He would press himself against my foot (with it covered of course) and apply pressure, kinda like a living breathing compression garment! Within 3 weeks of him doing this (intuitively might I add!) daily he managed to do what doctors and modern medicine were unable to do: he healed those wounds! While I still have wounds form, thankfully Foreman has been trained to do the same thing and will apply compression and has already healed some wounds since I got him!
Blood Clots: Deep vein clots, pulmonary embolisms and superficial clots. Blood clots have become more frequent as i have gotten older, but thankfully since getting Foreman he has been able to detect them!
Infections: I get a lot of infections due to my malformed systems. These often lead to me requiring weeks and sometimes months of IV antibiotic treatment. Usually, thanks to portacaths I was able to do this at home with a visiting nurse; however more recently, the infections I have been getting have become more severe and have led to sepsis. This has led to my ports being removed and in turn requiring more frequent hospital admissions.
As I have gotten older we have learnt more about this condition and how it impacts me, and it seems to be a never ending process of things changing. One of the hardest things about having a rare disease is that once you leave the children’s hospital the adult world is NOT set up for people like myself. I have had to fight tooth and nail to receive the care I need. Having to do this pretty much right out of the gate coming from SickKids has definitely been traumatic and I often question if lack of proper treatment has made things worse (like untreated infections. What impact has that had on my lymphedema??)
I am happy to say at the moment I have a pretty phenomenal team comprised of my family doctor, Specialists at Markham Stouffville Hospital, Markham Lymphatic Centre and Boston Children’s Hospital if need be.
The most recent addition to my team has been MSAR - Service Dogs. Am I tearing up writing this? YUP, but anyway, I am so grateful for all their help and support. In November, I received Foreman who was the first dog in the MSAR and Israeli Canadian partnership with DogSchool Israel! I can honestly say if it I did not have Foreman and he didn’t detect things like he has (life threatening infections and blood clots!!) or assist me when I’ve bled out I would probably be dead. He does so much more than just detect things might I add, and the improvement in my quality of life overall since we have been paired as been exponential.
With the realities of my day to day life, living with a rare disease may appear overwhelming, I don't think I would ever change if I had the choice. Having a rare disease has provided me with a lot of unique opportunities and has taught me a lot! Some of the things I’ve learnt from having a rare disease are what it's like to advocate for myself and others.
It has led to me becoming a public/ motivational speaker. Speaking at Ontario Legislature and Parliament Hill about disability, accessibility and service dogs. Becoming ambassador for the Rick Hansen Foundation which has taken me to places in Ontario I never thought I’d see as and allowed me to develop skills I didn’t think I had.
Led me to start an international support network for people with Parkes Weber Syndrome! We now have members from all over the world, not just North America and will hopefully be having a break out session at the next KT conference in July at the Mayo Clinic with world renowned specialists in complex vascular anomalies.
Led me to start a project called ACCESSIBLE ROUGE to make my community more accessible and inclusive for everyone regardless of ability and I’m looking forward to working with the city and community associations to improve things.
It's taught me determination and a new kind of appreciation.. after not being able to walk and having wounds on my foot for over a decade and since those have healed, I have learnt to not take the ability to take a single step or a single day my foot is closed for granted. It has taught me a lot about my faith and in turn about myself. It has also taught me that even if having a rare disease such as Parkes Weber Syndrome is not my choice, I have nothing but endless choices when it comes to how I CHOOSE to react to the things it throws my way and how I can use my experiences to help and educate others and that it’s okay to ask for help!
And last but not least It has taught me that HOPE is VERY real. Hope is an attitude, that moves us through this moment and into whatever that next moment may or may not be and that an attitude is ALWAYS our choice. I'll be the first to admit that sometimes choosing hope is the hardest decision we can make, but for me and countless others I suppose we can't help but make that choice, because hope must just be in our genes.