Canadian mom's fight for her son with 4 rare diseases: 'I'll keep pushing until someone listens'
Ashley Bergen noticed the blisters on her son William's wrist shortly after he was born. During her pregnancy, she developed preeclampsia, a serious health condition that causes high blood pressure and can cause organ damage, and delivered William via emergency C-section. When the blisters formed where William's hospital bracelet had been, a hospital resident at the Oakville, Ont. hospital immediately told Bergen to go to SickKids hospital in Toronto.
William remained hospitalized for a week before being transferred to SickKids, where doctors diagnosed him with Epidermolysis Bullosa (EB), a group of rare hereditary skin diseases in which the body is unable to form the proteins needed to keep the skin strong. People with EB are sometimes referred to as "butterfly children" because they have extremely fragile skin — like a butterfly's wing — and can develop blisters and sores just by touch. It's estimated that there are approximately 300 to 500 people in Canada living with EB.
This article is for informational purposes only and is not a substitute for professional medical advice, diagnosis or treatment. Contact a qualified medical professional before engaging in any physical activity, or making any changes to your diet, medication or lifestyle.
'They came back and told us that he had Epidermolysis Bullosa (EB). As a 19-year-old new mom, I didn't know what to expect, and then suddenly, I had this extra-fragile baby. I was afraid to pick him up. Babies scratch themselves and rub their eyes, so he had a lot of blisters and wounds. My learning curve was quick,' said Bergen, now 35, in an interview with Yahoo Canada.
The Niagara region-based mom learned that children with EB have such delicate skin that they require special clothing, bedding and more.
'I knew the condition made him fragile but I refused to keep him in a bubble, adjusting only when necessary,' she said. 'For 14 years, aside from uncomfortable wounds, and strange stares and comments from strangers, he lived like any other kid."
... I didn't know what to expect, and then suddenly, I had this extra-fragile baby. I was afraid to pick him upAshley Bergen
Everything started to change for Bergen's family in 2022. In April of that year, Bergen noticed that William was suddenly losing weight and muscle that made it difficult to perform simple tasks, like putting on his backpack or getting out of bed.
'Trying to get attention from the medical system was difficult because nobody wanted to listen,' she said. Bergen says she showed her doctors photos of her eldest son taken only a few months apart that showed a marked difference in his appearance.
William, now 16, was referred to an orthopedic surgeon, who quickly escalated the case to a neuromuscular and neurometabolic disorder specialist in Hamilton, Ont..
And then came a wave of rare medical diagnoses. Within a year, William was diagnosed with scoliosis, a musculoskeletal condition, and Myasthenia Gravis (MG) an autoimmune disorder that causes fatigue and upper body weakness and impacts the muscles used to make facial expressions, swallow, chew, speak and breathe.
WIlliam was also diagnosed with Avoidant/Restrictive Food Intake Disorder (ARFID), a lesser known eating disorder in which people restrict what they eat not because they're afraid of gaining weight, but because they have an aversion to the texture or smells of different foods.
Although William had always faced challenges, by the time he entered grade 10, he was a different child.
Bergen said she's seen first-hand the need to support medically-complex children after what she described as a "near-fatal" event at a hospital.
William spent most of 2024 in hospital due to his deteriorating health. He was categorized as "failure to thrive" due to his low body weight and muscle weakness caused by MG. Bergen said William was so weak, he couldn't lift a cup of water to his face.
Although he required BiPAP (bilevel positive airway pressure) while he slept, his skin condition made it too painful for him to wear a mask. Combined with his scoliosis impacting his chest cavity and ability to breathe and expel carbon dioxide, he faced tremendous challenges just to be able to breathe comfortably.
Bergen said her experience with the hospital was frustrating. William had initially been denied access to its pediatric complex care program because, allegedly, his case was not "complex enough." Eventually, he was accepted into complex care, which provides treatment through a coordinated plan between healthcare providers across different specialties while involving patients and their families. Communication between parents and healthcare providers is supposed to be a key tenant of the program — but Bergen said this wasn't her experience.
According to Bergen, things escalated when William was admitted to the Pediatric Intensive Care Unit after she left the hospital to tend to her younger son.
'His oxygen needs had skyrocketed. I dropped everything and rushed back. When I arrived, he was struggling with a full oxygen mask,' she said. The next day, Bergen said William's CO2 levels had risen to an alarming level. 'No one had called me. My son had been calling for me and no one had told me.'
Bergen said the incident left William traumatized.
'The doctors wanted to test how he did on room air, but he was terrified. He cried every time they tried to take his mask off,' she explained. 'Even today, William does everything he can to avoid ever going through that again.'
It has taken everything I have to fight and I'll keep pushing until someone listensAshley Bergen
Bergen faced a new challenge when it was time for William to be discharged: accessing home care. Initially, William was deemed ineligible for home care. It was only through Bergen's relentless advocacy, along with an occupational therapist who documented every detail of William's condition, that they finally secured a personal support worker seven days a week.
'It has taken everything I have to fight and I'll keep pushing until someone listens," she said.
Although William was approved for specialized at-home support through Special Services At Home (SSAH), Bergen said she was told there was no funding available.
"The Special Services at Home (SSAH) program helps eligible families of children with a developmental or physical disability pay for services in, or outside the family home. For example, the family can hire someone to help their child learn new skills or improve existing abilities," said an SSAH spokesperson in a statement. "Our government has invested an additional amount of nearly $133 million into the SSAH program which helped to support over 36,400 children with developmental or physical disabilities receive support from the Special Services at Home program in 2023-24.
"Our government is also supporting families with children with severe disabilities through our CARE tax credit, which provides up to $8,250 per child in tax relief for eligible childcare expenses."
Yahoo Canada followed up with SSAH, however their spokesperson did not address claims that funding had run out in 2024.
'William is 16, and soon he'll be an adult. When that happens, the support he has as a child will go away. And that is an even bigger concern…" Bergen said. "It would be a challenge to raise two healthy kids in today's economy. It's an extremely large challenge with a medically complex child and a regular, happy two-year-old.'
To make ends meet, Bergen works two roles at YMCA, while also pursuing higher education to expand her career options. 'The financial struggles have gone on for years, and it's only gotten worse as William's needs have increased,' she said.
Recognizing this hardship, Bergen's colleague, Theresa Ganton, helped her start a GoFundMe page to help ease some of the financial burden. Bergen estimates she spends approximately $17,000 out of pocket each year to pay for things like medications and physiotherapy equipment. William requires entreal feeding equipment (he receives nutrients via feeding tube) and will require a motorized wheelchair in the future.
The system helps in some ways...but in other ways, it just doesn't.
Thanks to the GoFundMe, Bergen has been able to offset some of the costs to care for William at home. She was even able to access an adaptable tricycle to help William remain mobile and enjoy time outdoors with his brother. He was invited to participate in the DEBRA Canada Ride for EB, an annual bike ride to raise funds and awareness for children and families impacted by the rare condition.
"The system helps in some ways,' she says, 'but in other ways, it just doesn't.'
The severity of William's condition cannot be ignored but Bergen is sure that they will fight till the very end. 'I want my kid to prove everyone wrong. I want him to be the one that has stood up for not only him, but for other kids. I want him to be 40 and sitting at that table at the hospital telling his story about how he didn't give up.'
In the face of challenges, Bergen and William find strength in each other. When someone recommended placing William in a specialized care home, Bergen dismissed the idea without hesitation. 'I'm not giving up on him. I will never give up on him,' she said.
'William is a unique teenager — not because of his medical condition, but because of his choices,' said Bergen. His joie de vivre shines through in his extraordinary wish for Make-A-Wish: while some kids may want to go to Disney, William wants to visit Mennonite colonies in Mexico. 'I want to give him the gift of travel.'
"I want people to see children needing complex care as humans, not numbers — defined by who they are, not their condition," Bergen said.
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