Getting an early and accurate diagnosis can be the difference between a life fighting to survive and one filled with adventures and joy.
It was when Walter was approaching his first birthday that Erin felt that something was wrong with her son. He wasn’t meeting the developmental milestones of other children his age and his lips would turn blue when he cried. Getting the proper diagnosis was hard – really hard.
Erin says she brushed off the early signs that something was wrong. At 12 months, he couldn’t sit up and had no words. “We kept telling ourselves that boys develop more slowly. We thought he’d catch up.”
When Walter didn’t pass an auditory test, the real search for answers began. “The first diagnosis we were given was cerebral palsy,” says Erin. “I remember being angry and feeling like we’d been brushed off after a very short consult. I was convinced the diagnosis was wrong. Although I did not believe my son had cerebral palsy,” adds Erin, “I did know that he needed help.”
“I became a better Mom – and a better human — when I stopped hiding and pretending my life wasn’t going to be how I imaged,” says Cole Pruchnicki’s mom, Amelia. “I had to look deep inside myself and choose to accept my own vulnerability and succumb to our reality.”
Amelia, her husband Gerard, and sons Ethan and Cole are a family living with mitochondrial disease. Cole started showing signs of mito when he was just a year old.
Regularly experiencing seizures, being rushed to hospital by ambulance on a weekly basis, and being generally weak were normal for Cole. This young man has had multiple diagnoses over the years, first with Complex 1 Deficiency, then Leigh’s Disease and now, Pyruvate Dehydrogenase Complex Deficiency.
Cole was 7 when Amelia accepted that her son had a disability and changes were necessary. “Once I accepted our reality, everything changed. I needed to advocate for myself and my son, learn to ask the right questions, and take advantage of the supports that were available. We started asking for — and accepting — help. We moved to a smaller community where many services were suddenly at our door. The relief was incredible.”
Amelia says that when they moved from Toronto to a smaller community, she found her tribe. She contacted the Children’s Treatment Network (https://www.ctnsy.ca/). It was there that she connected with other families who had children with different diseases but similar challenges. She asserts that it has been life-changing to connect with a support team of people who have similar challenges but are working towards the same goals.
The Look of Love
The love and mutual respect between Amelia and Cole are beautiful to witness. Amelia describes her younger son as a bright, easy-going, adaptable 13-year-old boy with a wonderful brain that moves too fast for his mouth and tongue to keep up with, and who takes everything in stride. They gaze at each other frequently, swap teasing remarks, and constantly share smiles and giggles.
Cole can walk on his own but uses a wheel-chair when outside of the house. While he has an iPad for communication, Cole likes to talk
It only takes one meeting with Marsha to be captivated her infectious smile. Right off the bat, you can feel her dedication and positivity.
Marsha has never allowed her shortcomings to limit her will to push forward. She always finds creative ways to be a part of the action!
Since her childhood, Marsha had to work twice as hard to keep up with her peers. The sports and activities she loved took an unimaginable toll on her body. She often questioned why this was the case but was never able to get the answers she needed until a minor mistake on a lab requisition changed her life forever.
By pure accident, Marsha’s family doctor checked off “CK” (Creatine Kinase, an enzyme that leaks out of damaged muscle). When Marsha’s CK levels were tested the results showed that her muscles were being destroyed by an abnormality.
This sparked Marsha to pursue unanswered questions as to why she was having this problem. Three years and four doctors later, Marsha was finally diagnosed with McArdle, a mitochondrial disease that manifests as a deficiency of muscle phosphorylase, causing fatigue and muscle pain during exercise in 2015.
Marsha was at a charity event for mitochondrial disease when she stumbled upon MitoCanada representatives and told them her story. After the event, MitoCanada helped Marsha obtain a referral for a metabolic specialist. Seeing this specialist helped Marsha manage her symptoms and understand what is happening with her muscles.
“Being properly diagnosed has given me peace of mind,” says Marsha. “Living my whole life without knowing the cause of my symptoms was challenging. Now that I know the reason for my symptoms, it is easier to move forward.
Marsha says her diagnosis, has given her a purpose in life. She wants to help people in her community get the care they deserve. Marsha is a pillar of the MitoCommunity in Saskatchewan. She helps put on numerous fundraising events and always makes herself available to the community. Marsha never loses hope because her efforts and work are justified by the increasing research for Mitochondrial disease.
Christine Knox is part of an exclusive club. She, and only two other people in the world, have a type of mitochondrial disease caused by a rare mutation. For Christine, this means fatigue, issues with memory and concentration, migraines, hearing loss, chronic pain, dysautonomia, stroke-like episodes, atrial fibrillation, respiratory dyspnea, sleep apnea, gastrointestinal issues, tremors, and neuropathy in her legs.
Christine also has a kind heart and passionate determination to raise awareness and provide comfort to others living with mitochondrial disease. In 2013, while working through her own diagnostic odyssey, Christine bravely founded Mito Quilts of Hope. This beautiful charitable project aims to give a custom quilt to every Canadian living with mitochondrial disease.
“I want to bring comfort to mito patients,” says Christine. “I am always cold and know how difficult it can be to maintain your body temperature when you’re not well. Quilts are the perfect gift!”
Every MitoQuilt is as unique as the person who receives it and serves many important functions. It embraces the beneficiary with MitoEnergy and provides physical comfort. It reassures its recipient that they are not alone but are supported by a larger MitoCommunity. It is an opportunity to Draw attention to the person and piece that can open new conversations to share personal stories and increase MitoAwareness that may save lives.
Reaching such a large group is no small undertaking. Christine has enlisted the help of the quilting community from quilting guilds to churches to individuals. So far, Mito Quilts of Hope have embraced 250 individuals. Many more people are living with mito with thousands more at risk of developing the disease. Christine asserts that “every stitch counts”. She is constantly searching for new recruits to help her make more quilts to help more people.
The Mito Quilts of Hope website has patterns, instructions and information on making or receiving this incredible gift. Every quilt has a label that indicates who made the quilt as well as when and where it was made to connect these special people.
MitoCanada has committed to helping Christine reach her dream of enveloping as many people who are living with mitochondrial disease as possible with a comforting MitoQuilt.
If you would like to help make MitoQuilts or know some one who needs one, visit MitoQuiltsofHope.org
If you would like to make a donation to be directed to Mito Quilts of Hope, please visit MitoCanada.org/donate