Rare Disease Day 2019- Got That Right

It is rare disease day today and cystic fibrosis is definitely in that category. There are only 100,000 people worldwide afflicted with this disease, yet it is the most common fatal childhood genetic disease in the world. This makes me more than 1 in a million. It actually makes me more than 1 in 6 million! Does that make me special? Sure. Is it a good thing? No.

CYSTIC FIBROSIS

Cystic fibrosis (CF) is the most common lethal monogenetic disease in Canada, with an incidence of ~1:3400 births. While CF affects multiple organ systems, it is the respiratory system from which it derives notoriety. The resultant thickened airway secretions impair mucociliary clearance of inhaled debris enabling pathogencolonization, growth and persistence. Through repeated episodes of pulmonary exacerbations (PEx)(often triggered by respiratory viruses) and progressive chronic infection, airways damage and bronchiectasis ensue. This ultimately culminates in respiratory failure and death. In other words…

There is no cure for cystic fibrosis, which causes an overabundance of mucus, traps infections and blocks airways in the lungs. It complicates digestion, affects the pancreas and other organs and, eventually, leads to respiratory failure. Dutiful treatments eat up hours each day and can help ease complications and symptoms — until they don’t. The only option to death is a lung transplant IF one can qualify for one. But CFers can add years to their lives with double-lung transplants, assuming the surgery is successful. It may extend a persons life by weeks or years. It does not cure CF! The new lungs do not have cystic fibrosis since you must be born with CF, but the rest of your body does still have CF.

46 AND THRIVING

I can say at the moment that I am thriving with my CF. I haven’t needed IV antibiotics in over 28 months, which is truly unheard of for someone with such low lung function. I feed my immune system with excellent supplements such as juice plus, turmeric and zinc, on top of my normal medications and treatments. I stay away from crowds. My friends and family will stay away from me IF they are sick. I Lysol surfaces relentlessly. I am smart. I do not put myself in situations where I may be exposed to a bug or virus that truly, may kill me! I am always proactive with my health. I am my best and only advocate I trust.

I workout religiously and I tube feed every night to ensure I get the 4000 calories needed to fight everyday. Yes, I do eat normal food during the day but eating 4000 calories is near next to impossible when you have no appetite and no sense of smell to trigger an appetite. I lost my sense of smell in 1992 after my 7th nasal polypectomy.

Besides keeping my weight on the other most important thing for me is rest and sleep. I say no often to dates, unnecessary appointments and/or the gym if I need to take care of myself. Having CF is a full time job. In my whole life I have always known that my lung function is directly correlated with my weight. This means that if my weight starts to fall my lung function will follow. I am already at a dangerously low lung function of 26% so losing weight will result in a very real struggle to breathe.

I currently use oxygen to work out and while I am sleeping. I have been using oxygen for over 4 and 1/2 years. When I first started using oxygen I was terrified that it would lead to needing it full time, like a drug but it was just not true. I started using oxygen before I qualified for it for free with the alberta healthcare system. In order to get my oxygen needs covered with my insurance plan I had to be much much more sick. This is one of the dumbest standard of care rules that doctors must follow. It was a parameter set by politicians not patients. I have managed not to need oxygen full time because I use oxygen part time, if you get my drift.

I am not looking forward to when my health takes a turn as it inevitably will but I am ready for it. I went through the arduous process of getting on the lung transplant list, did my 4 weeks of pulmonary rehab and passed wit flying colours. Currently I sit as a zero, meaning I am stable and not actively listed. So when the day comes that I get super sick then they flip a switch and I hit the list immediately. I have a rare-ish blood type so if I were to list right now I would be the only person waiting for lungs with B+ blood type. This means there is no competition for a set that comes available with my blood type. My transplant team believes that my wait should not be as long as others with different blood types or those with a common blood type. I am blessed. I mean it.

As I look forward to being able to get on a new drug at the end of the year I wonder if it will save me. The results of the trials are beyond promising with an average increase in lung function of over 15%. If that were to happen to me I would step down from the list and most likely turn up the volume on my training to really get in amazing shape sans oxygen!

I hope. I have faith. I am on the path God put me on. I live each day as if it were my last, even if it includes a nap. I take NOTHING for granted. I have perspective. It can always be worse. My takeaway on rare disease day is that because of people who fundraise, doctors who treat, and researchers who find ways to stop CF we are winning the battle. The war is yet to be conquered. We need more money, more researchers and more doctors to battle with us. As a patient I promise to be compliant and grateful for the care I currently have. We are moving in the right direction but we are not close yet. We are still losing patients at young ages and the median rate of mortality sits at 34. This means 50% of CF patients will die before their 34th birthday.

How can you help?? You can come to one of the many CF fundraisers in the world, you can tweet, post on Instagram, share on facebook anything about CF. You can be a soldier to help us spread awareness and fundraise the money we need to stop CF. If you are in Calgary you can join me at the “That 70’s Gala”on May 10th at the Calgary Hyatt. Early bird tickets on sale now. Www.sfcf.ca. This foundation is my legacy and all the money we raise go to a laboratory named in my honour at the university of Calgary. 100% of money raised goes directly to research focused on CF and lung disease. We have no overhead, no salaries to pay and no office to rent. For the last 14 years we have raised $2.4 million dollars and we have funded research that has made an impact on the patient directly.

As I have said many times, ‘I may have been given a cactus but I don’t have to sit on it’. If you want to see my journey with CF and doing CrossFit here is the 17 minute documentary produced locally about it.

Fighting for Breath

Until we stop CF I will always be fighting.
Health and Happiness

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