Jacklyn and Derrick Shaw have supported each other through some of the toughest and most complicated situations that anyone could go through, from a rare disease diagnosis to the loss of their son Rowan to early-onset Krabbe disease. Says Jacklyn:

“Rowan changed our lives forever. My marriage and relationship with my kids are different. I’m more present. I’ve learned to really live in the moment. Loving a medically fragile child is hard but it was so rewarding. He taught us so much about enjoying life. I get so much joy just talking about Rowan. Sometimes I feel like people want to pretend he wasn’t here, or tiptoe around me, but he had such a huge impact.”

If Rowan was alive today, he would be a vibrant four-year-old. Unfortunately, Krabbe disease took him at just 15 months old. Yet his legacy and his memory live on, shaping the Shaw family and their outlook on life. To Jacklyn, sharing Rowan’s story is incredibly important.

Jacklyn sat down with Patient Worthy to share Rowan’s journey, what she has learned along the way, and why she feels newborn screening needs to be adjusted for more disease inclusion.

Rowan’s Story

When it came to Rowan, Jacklyn had a completely normal pregnancy and delivery. She was so excited to bring him home and for Rowan to meet older brother Eli, now six years old. The family settled into their own little routine and, for the first three months of Rowan’s life, everything felt perfect. However, at three and a half months old, something shifted. Jacklyn describes:

“He was irritable and crying all of the time. When he went to sleep, he’d wake up screaming like someone was hurting him. He stopped attempting to roll over and wasn’t able to hold his head up as well. People kept telling me that it was colic or the ‘dreaded four-month sleep regression,’ but I felt like it was something more. It was almost like he was reverting back to a newborn.”

Soon, Rowan began experiencing seizures, muscle tightness, and abnormal eye movements. Weeks later, he stopped tolerating feedings. Since Jacklyn is a nurse—then working in general surgery and now in Labour, Delivery & Women’s Health — she began searching for answers: online, from friends and family, from doctors at her hospital.

Eventually, the Shaw family was referred to the IWK Health Centre, where the neurologist acknowledged that something was going on with Rowan, but he wasn’t sure what. To this day, Jacklyn remains grateful that he validated her concerns.

What came next was eight weeks of near-daily bloodwork, ultrasounds, cardiac evaluations, and video recordings of Rowan’s crying episodes, where he would cry for hours on end. A doctor at Toronto SickKids sending a blood test to the Mayo Clinic.

Krabbe Disease Diagnosis

On January 2, 2020, the doctors reached out to the Shaw family and told them that they needed to meet immediately. Jacklyn says:

“They wouldn’t tell me anything besides that we had a diagnosis and the doctors had never seen a child with that diagnosis before. There were only a few cases in Canada. At that point, I just remember sobbing on the phone. I thought he might have a brain tumor.”

When the family saw the doctors, they were told that Rowan had a mutated or missing GALC gene. The diagnosis: early-onset Krabbe disease. Rowan was seven months old. Doctors told the family that they had anywhere from 5-7 years left with their son. Jacklyn and Derrick were heartbroken and were even more so when, after the MRI results, the prognosis was downgraded to 3-5 years.

Rowan’s Passing

After speaking with a genetic counselor, the Shaws were referred to a pediatric palliative care team. Unfortunately, Jacklyn believes that the family “fell through the cracks,” delaying their connection. Rowan lost his ability to eat around the same time; the family decided to put in a G-tube. Jacklyn shares:

“Our palliative care doctor had worked with multiple families of children with Krabbe disease, so that was reassuring. Based on her past experience, and how Rowan was at eight months old, she told us that—at best—he would see his 2nd birthday.”

But the situation rapidly worsened when Rowan contracted Respiratory Syncytial Virus (RSV) and potentially COVID-19. Says Jacklyn:

“We called it the staircase of death. He would do well then rapidly deteriorate, plateau, and then go through the cycle again. By the end of August, we knew that our time was getting short. He couldn’t use the bathroom on his own, so I was doing home catheterization. His seizures worsened and he was on so many medications just to keep him comfortable. It was incredibly difficult to watch him suffer.”

Unfortunately, because of the pandemic, Jacklyn’s father was never able to meet Rowan. Rowan passed away peacefully in his sleep at the end of September, surrounded by the ones he loved most.

Jacklyn, Derrick and Eli often talk about Rowan and the memories he left behind. She finds it comforting to know that he is not forgotten. In some ways, this experience has been very difficult interpersonally. As Jacklyn explains:

“We’ve lost many relationships over the years from people who said it was too difficult to be around Rowan. How do you forgive that? But I’m grateful for the people who continue to share his memory with me.”

Jacklyn and Derrick also found healing, in ways they didn’t know they needed, from the birth of their daughter Maisie, now 4 months old.

Advocacy and Awareness

In Canada, newborn screening does not evaluate infants for Krabbe disease. Says Jacklyn:

“Screening is as simple as a blood test. It would cost minimal amounts to test if someone has Krabbe disease or is a carrier. Treatment is effective before symptoms, so early diagnosis can literally change lives. If someone has later-onset form, that child can live a very normal life. It’s crazy to me that children are losing their life for this.”

Pushing for increased newborn screening protocol could be helpful; a similar fight is going on within the United States, where newborn screening panels are not standardized from state to state.

Outside of raising Krabbe disease awareness and advocating for change, Jacklyn also has a message to other parents on their journey:

“Advocate for yourself. If you feel like something is wrong, stick to your guns. As parents, you know your child. Deep down, you know when something is going on. Have courage. I know we’re all trying to do our best, but hold onto that courage. You’re not alone in this.”