Faces of Mito Featured

Life with Evan

I’m Evan’s dad. I’m also Julia’s dad, Sarah’s husband, an endurance junkie, MitoCanada’s co-founder, and the CEO of a digital health company called Lumiio. Today, though, I want to tell you about my son Evan and what it’s like to be his dad.

Evan was the happiest little boy. We’re a super active family, so when he was young we were always hiking, skiing, and playing outside together. He loved that. And he was really cheeky. He had this coy sense of humour and a glint in his eye.

I wish we’d known that Evan had dysfunctional mitochondria and was at a high risk of developing a mitochondrial disease. If we’d known, it would have changed our whole approach to his exposure to stressors. Hindsight is 20/20.

Evan’s disease onset was sudden. When he was four, Evan woke up one day with stomach pain. Doctors suspected appendicitis and recommended surgery. Unfortunately, surgery and anesthetic are pretty major stressors.

During the surgery, Evan suffered a significant brain injury. He was initially diagnosed with acute disseminated encephalomyelitis (ADEM), which is a neurological disorder characterized by brief but widespread inflammation in the brain and spinal cord that damages the myelin. Overnight, Evan became non-verbal and needed to be tube-fed. Nine out of ten kids would fully recover from this, so we didn’t panic – we thought we were dealing with an acute brain injury, and that we’d see a lot of improvement. But when Evan didn’t improve and started developing seizures, his clinical team realized something more was going on.

It took us a while to accept that he wasn’t going to improve – that he’d be in a wheelchair and need to be tube-fed probably for life.

It was such an abrupt, jarring change. It turned our lives completely upside down. And there was a massive amount of grief. We lost a lot of the Evan we knew and loved, and we also mourned the loss of this whole life that we had envisioned for him, that we’d thought was ahead of us. Suddenly, the future looked so different from what we’d imagined – for Evan and for all of us.

It took about a year of testing for Evan to get a clinical diagnosis of mitochondrial disease. Fifteen years later, we still don’t know the underlying genetic cause for his disease (even after completing DNA sequencing three times).

Life with mito has been tough for Evan. Not being able to communicate has been a massive challenge and source of frustration. He’s dealt with chronic pain and many surgeries over the years. Evan’s muscles are always turned on and he suffers from chronic seizures, so he’s on a lot of medications, which have a lot of side effects.

It has also been a challenge navigating Evan’s care. When he was little, he was almost like a baby. We could just pick him up and move him around – it was fairly easy physically. But as he got older and heavier, that became more and more challenging. It was hard on our backs, lifting him in and out of the car or wherever. Eventually, it came to a point where we could no longer do it. We’ve had to shoulder the costs of adaptive devices, wheelchair-accessible vehicles, and a wheelchair-accessible home.

Despite the challenges, we always reminded ourselves that Evan was still with us. He could still smile and we could tell that he had quality of life. Sarah and I are optimistic people. We’re really just focused on the here and now, and on trying to give Evan the best life that we can, because we don’t know how long it’s going to last.

When Evan was first diagnosed, we quickly realized that there was nowhere to turn in Canada to find support with navigating the

mitochondrial disease health care journey, connecting with others, or learning about mito. At a United Mitochondrial Disease Foundation conference in the U.S., I met several other Canadian families. We said, “Hey, we need to do something back in Canada.”

So we co-founded MitoCanada to help build awareness, increase education, and advance research and clinical knowledge while also preventing mitochondrial diseases from manifesting in others. We became a registered charity in 2010, and the rest is history.

Co-founding MitoCanada helped me on a personal level, too. When Evan got sick, I felt helpless that I couldn’t do more for my child. Starting the organization made me feel less helpless and knowing that we could potentially help others was also uplifting.

Evan is 19 years old now. He loves music, getting outside for walks, and watching shows and movies on his iPad. He’s a huge fan of Frozen! And he still has that glint in his eye and his sense of humour – I see it in the books he enjoys, like the Pigeon book series by Mo Willems. Seeing Evan smile brings us so much joy.

The last few years have probably been Evan’s most comfortable and best years. He recently graduated high school, which he loved. He made some great connections with his teachers and classmates – he has a way with people, and is super expressive and engaging in communicating through his eyes. The transition from pediatric to adult care has gone smoothly, which is fantastic and better than we expected.

Another big change was Evan moving into a group home about 16 months ago. It’s been a big change for everyone and great for him. He has three adult roommates so he has some amazing social stimulation and interaction. He’s doing really well!

And now for the first time, our house is our own. We had so many caregivers and nurses coming and going over the years, looking after Evan, that there was basically no privacy in our home. Now, we’re spending more time together as a family and enjoying more quality time with our daughter Julia, who’s in grade 12. Fortunately, Evan only lives a 10-minute drive away so we can pop over to visit him anytime.

Here are some of my takeaways from my story and life with Evan. Never give up advocating for yourself or a loved one. Sarah and I were relentless in trying to find answers for Evan – and for every problem, truly, there’s a solution. Also – look after your mitochondrial health. The best way to do that is through exercising and living as healthy a lifestyle as possible. And finally, find community. I’m so grateful for MitoCanada and our MitoCommunity. The people who rally around this cause have been unbelievable and we’ve done some incredible work as an organization.

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Angela Tomasone

On a Sunday morning in early December 2021, the pregnancy test read positive. I went into our bedroom, and my husband, Michael and our dog, Timmy, started jumping in the bed out of excitement when I shared the news. I was blessed to have an easy pregnancy—she treated me so well.

Michael and I spent the months leading up to August guessing what the gender would be, researching baby items, rearranging furniture, picturing how our lives would change, and imagining life with a baby. On July 31st, 2022, we got the call that we needed to head to the hospital, and I needed to be induced. Two weeks ahead of our due date, Genevieve knew we needed more time with her.

With music playing and labouring through the night, our baby arrived at 7:43 am on August 1st, 2022, to which Michael announced, “It’s a girl!” We named her Genevieve, a name we had agreed upon since before we were married, meaning “of the race of women” and “guardian goddess.”

Genevieve was the sweetest newborn baby, with a full head of hair and long eyelashes. Her eyes at birth and onward were always wide open, always so intrigued by the world around her. She quickly grew and changed, and her big expressive eyes would make for the best faces. She loved to be held by mommy, in a position where she could look at her daddy, who was undoubtedly herfavourite person in the world. Part of him may have hoped for a boy during pregnancy, but Genevieve had her daddy wrapped around his finger in no time. We were blessed to celebrate Thanksgiving, Halloween, Christmas, and Valentine’s Day with Genevieve. The turkey was bigger than her, Genevieve had and we were especially grateful.

Mommy made her Halloween costume an arts and crafts project—spaghetti and meatballs will never be the same. This Christmas was magical, decorating the tree with new ornaments for her, reading her the Christmas story, photos with Santa, all her Christmas outfits, and sharing the joy with our families and friends.

On January 1st, Genevieve saw a New Year, and a few days later, she went on her first plane ride to Florida! There, we began to experience bottle refusal and some other signs that were concerning, such as vomiting and her overall muscle tone becoming weaker.

We’d return from our trip and make appointments to see a physiotherapist, occupational therapist, and optometrist and went in for a weight check, all anxiously awaiting our six-month visit with our pediatrician.

Genevieve was baptized and celebrated by her immediate family on Sunday, February 5th, two days before the most difficult month of our lives began. The signs that our pediatrician saw led her to believe that something was wrong.

We made our way directly to SickKids, receiving the best care by the nurses and doctors, and became quite popular on the seventh floor as the “cutest baby with the long eyelashes.”

In this  month, she demonstrated bravery and strength through numerous tests all with a smile on her face, charming each person she encountered.

After a barrage of tests—being moved from neurology to metabolics—the doctors told us that they unfortunately suspected Genevieve had Leigh syndrome. We were given so much information and medical vocabulary that overwhelmed us. The only things that stood out to us from that initial conversation were that there was no cure, and that it could be fatal.

That day, our families rushed to our sides as we processed what this would all mean. Genevieve received an NG feeding tube that day as well, which in turn allowed her energy to perk up, and we focused on being as present as possible with our baby girl who was still smiling at her mommy and daddy, unknowing of the anxiety and fear we were experiencing for her.

We were discharged for Family Day weekend, as if she knew we needed one last weekend as a family at home, only to return the Tuesday after. Genevieve caught a virus that would lead to a “Code Blue – Respiratory Arrest.” Once more, our families rushed to our sides as we’d experience the terrifying world of the ICU. By God’s grace, she was awake and able to be extubated 48 hours later.

We cautiously enjoyed another week with our baby girl back up on the seventh floor, anxiously watching her vitals on the monitor. She smiled with us for a few days longer, but inevitably had a repeat Code Blue event leading us back to the ICU, and unfortunately, this time with not much promise that she’d wake again.

On March 8th, 2023 at 11:44 am, we held our daughter in our arms as she took her last breath. It was a bright and sunny day, which was also International Women’s Day. Each of her pediatricians, specialists, ICU doctor, and nurses were women. Our brave girl lives up to her name “of the race of women” and is now our “guardian goddess.”

Her seven months on earth with us were too short, but as you can see it was filled with memories, love, and laughter. Do not feel sad for us, because although this grief is immensely heavy and always will be, it is all because of the immense love we have and always will have for our baby girl, Genevieve.

We are now focusing our deep love for Genevieve into carrying on her journey and honouring her memory, so that her legacy can live forever.

We’re looking forward to participating in the Walk N’ Roll 4 Mito, and we’re overwhelmed with gratitude that we’ve been able to fundraise over $22,000. It is our hope that we can increase awareness of mitochondrial disease and connect with families who have experienced a similar loss.

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