Tuesday, October 6, 2015

Across The Years for Care 4 Rare

In Glendale AZ from December 29 through January 1 I will be racing my very first multi-day race at the renowned Across The Years ultramarathon. The race will see runners run 24 hr, 48 hr, 72 hr, and 6 days straight with the objective of accumulating as many miles as one can travel within the time allotted. The rules are simple: run, walk or crawl. Sleep when you want, stop when needed and when stepping off the track one must re-enter where they exited. It's a flat course, incredibly well supported, and has stiff competition making the race a perfect venue to rack up a huge amount of miles. Sharon and the kids will be track-side along with my brother Dan, sister-in-law Laura, and my Mom and Dad kindly offering me their support as I attempt my largest running goal yet. The lofty goal has two parts, one of far more importance.

One goal is to break the 48 and 72 hour Canadian records. The 48 hour record is currently held by Canadian running legend Trishul Cherns set in 1995 when he ran 355.875K. The 72 hour record is 496.482K held by a pedestrian racer by the name of Richard Lacouse, completed in New York city in December of 1881. Yes, that's right, 1881! That's a 134 year old record!!! In a future blog post I'll write about the fascinating pedestrian racing history in the late 1800's and I promise you it'll blow your mind; the truly amazing athletic feats our ancestors were achieving well over 100 years ago. After setting a new Canadian 24 hour record in April 2015 of running 257.093K, I feel these two goals are lofty but yet obtainable. I hope to only sleep 2-3 times for a maximum of 90 minutes per sleep session. Should get interesting.

My other goal, and by far the most important of the two, is to create awareness and funding for an organization that has grown near and dear to us Proctors called Care 4 Rare. This is a wonderful group of scientists, clinicians, bioinformaticians, and researchers with the goal of improved clinical care for patients and families affected by rare diseases.

Our story began in March of 2010 when our son Sam was rushed to the hospital with flaccid paralysis. Terrified, Sharon and I looked on as our 13 month old perfectly healthy son was now hardly able to turn his head and blink. After numerous tests the doctors at the Alberta Children's Hospital informed us that there was nothing they could find that caused this episode and it was most likely a virus that attacked Sam's brain and that he will most likely recover quickly and this will be just a bad memory. Sam's recovery was swift,  all except we noticed he was all wobbly and wibbley. In March of 2011 our world was shaken when Sam was hospitalized yet again with the exact same symptoms that crippled him one year prior. This round the recovery was slower and the worry deepened as Sharon and I came to grips that this was a serious ongoing issue that needed serious
attention. A team of neurologists, geneticists, and countless other doctors combined efforts. A trip was made to the Mayo Clinic and test after test were performed to identify what was ailing Sam but nothing was found. In the past 5 years, we received over-the-top support from government agencies, organizations like Cause And Effect, physiotherapists, OT's, and most notably Sam's CDF (Child Development Facilitator) Nicole Lightfoot. Sam will be turning seven this coming February. He finds all gross and fine motor skills challenging such as walking, feeding himself, writing, and everyday things we all take for granted. We've been spending the past few years coming to grips with the notion that we will most likely never have an idea what is causing our son's ataxia (lack of balance and coordination) and better preparing him for a life of challenges...

...That is until three months ago when we had a meeting with geneticist Dr. Micheil Innes from a group called Care 4 Rare. He explained a study called whole exome sequencing in where they could investigate Sam's entire genetic data in search for the glitch that causes Sam's ataxia. This is the latest and most detailed genetic investigation method. It was music to our ears when he broke the news that Sam and 499 other children with undiagnosed diseases and disorders from all across Canada will partake in this $11 million study to identify new genetic diseases. Any parent will tell you that the feeling of not having answers and being unable to help your child is one of the lowest and most helpless feelings but now thanks to Care 4 Rare we have a renewed optimism and new found hope. Dr. Innes explained that given recent studies similar to this one there could be a 30-35% chance of a diagnosis upon completion of this study. THIS IS HUGE!

Currently, 25% rare disease patients wait 5-30 years for a diagnosis; 40% initially receive a misdiagnosis; and half will never receive a diagnosis. Securing a clear diagnosis means that patients and families can make future projections about their healthcare, tap into best practice guidelines, seek reproductive counseling, and potentially start therapies.  

In the past 5 years of parenting a special needs child we have found it astonishing just how many special needs children are undiagnosed. This baffled me, until I realized that scientists have just scratched the surface of the underbelly of diseases and dysfunctions science has yet to understand. What upsets me the most is that while Sharon and I are celebrating being part of this study there are thousands of helpless and hopeless families, many of them worse off than us, still left wanting an answer about their child's rare disease. This is especially disheartening knowing that the technology is ready and available but the only thing lacking is funding.

PLEASE HELP BY DONATING HERE

Some say the reason why rare diseases don't receive the attention and funding that known diseases get is because people don't identify with things they don't understand. We can all put a face to Down syndrome, Cerebral Palsy and Autism. Here is the face of a rare disease...and he is beautiful.









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