About SKATE-A-Thon
Who: Anyone, all ages.
What: SKATE-A-Thon
Outdoor bbq & hot beverages, fire pits, raffle, family games, childrens craft table, face painting, and more!
Register here!
Where: Espanola Track & Field "Skating Oval"-weather permitting. Espanola Recreation Centre- Arena will be used as a back up, and available to skaters if need.
When: Saturday Februrary 24th, 2024 | 10:30AM-5PM*
*Please note skaters do not need to participate this whole time. The time was chosen based on the average length of time for a child’s infusion with Pompe Disease.
Why: Raise awareness, have fun, win prizes! All funds raised support rare disease initiatives at SickKids. You will receive an automatic tax receipt for your online donation.
Date
Location
Contact
Iris Mae McKechnie
❤️Local Espanola baby Iris McKechnie diagnosed with Infantile Onset Pompe Disease at 3 months old. She is now a thriving 27 month old, and although we have so many to thank for that, we continuously find ourselves thanking the specialized physicians at SickKids, and SCIENCE.
Help us raise funds for rare disease initiatives at SickKids - supporting the experts in continuing to learn about Iris’ disease as well as other genetic diseases.
CONTINUE TO LEARN MORE ABOUT OUR YEAR HERE
Our Pompe Diagnosis Journey
September 1st 2021 was the best day of our lives. Bringing our beautiful daughter Iris Mae into this wild world. Our eyes met hers and our whole life changed. So full of love and emotions that we did not know existed, an experience that surprised us in the most amazing ways.
Heading home as a family of three was quite surreal. Late nights, early mornings, and never ending days of cuddles and kisses. Lots of love, and new parent worries-which seemed like such a big deal at the time.
We slowly got into a routine in terms of knowing when to sleep, and Alex being back to work, but it wasn’t long before things became quite unpredictable.
It was at Iris’ (almost) 8week check up where all our thoughts of settling into parenthood with a baby changed. Some concerns arised at her appointment, which led to a quick admission to HSN, and within a few weeks she was then admitted to SickKids for further testing. There were many sleepless nights between our admission to HSN and SickKids.
We met with almost 50 doctors, nurses, and fellows in a 3 day admission. Admitted to the “general floor” we met with the neurology, cardiology team, genetics, and metabolic team as well as an ophthalmologist.
Different teams and specialists with different opinions- we were very thankful and overwhelmed with the detail and care of the staff at SickKids.
We left sick kids with no information and simply to go home and await a call, or attend December 2nd for a follow up. In the mean time they sent out blood for testing, in addition to a number of other tests that were done (MRI, urine samples, Echo, ECG,etc..etc)
On December 2nd, with a room full of people we recieved a diagnosis for Iris Mae of Pompe Disease.
Worried, Confused, sad, angry, empty… full of denial, love , and hope we left Sick Kids and knew we only had one place to be-Home
This is how our journey began, and also why SickKids means so much to us!
CONTINUE READING HERE
Why Rare Diseases?
There are approximately 7,000 rare genetic diseases that impact 3,000,000+ Canadians and their families.
· 66% of these diseases cause significant disability
· 75% affect kids (900,000+ children with rare diseases in Canada)
· 50% lead to early death
· almost all have no targeted treatment
More than 1/3 of these diseases remain unsolved, meaning that their genetic cause is unknown.
On top of the health implications of having a rare disease, thousands of Canadian patients spend years being redirected to different specialists trying to get answers as to why they have the symptoms they do, in an attempt to get a diagnosis. This is known as the “diagnostic odyssey”.
LEARN MORE ABOUT RARE DISEASES HERE