Saskatoon family fighting for son with rare genetic condition

The countdown is on for Leslie Duval’s family, who hope to be in Calgary by the end of next month for their 15-month-old son to receive a potentially life-changing transplant.

When Duval got pregnant, she didn’t know she’d soon be spending a lot more time at her job, but not because of her work. A pediatric nurse at the Jim Pattison Children’s Hospital in Saskatoon, Duval said her son is currently headed into the second week of his most recent hospital admission to the pediatric ward.

That’s because of Jack’s condition: A rare genetic disorder called Wiskott-Aldrich Syndrome. The condition is characterized by abnormal immune system function or immune deficiency, severe eczema and a reduced ability to form blood clots due to a low platelet count (called thrombocytopenia).

Those difficulties with Jack’s blood and platelets mean he is routinely covered in bruises.

“He is covered in bruises and little purple spots all over his body just that he gets through just being a toddler,” Duval explained. “Any type of bump, bruise (or) cut that Jack gets, it could be potentially very severe.”

She called the situation “terrifying.”

The bruises are noticeable, too. Duval said she hasn’t had anyone comment on her son’s appearance to her, but she sees the looks they get in public sometimes.

“It’s really heartbreaking because they don’t know how loved he is, they don’t know how happy he is,” she said. “I really wish I could just hold a sign up above his head.”

Duval said her son has been struggling with thrombocytopenia and eczema since he was around five or six months old. He’s had several long hospital stays but Duval is hoping that might not last much longer, thanks to an upcoming bone marrow transplant for Jack.

Hope in the form of a transplant

Duval and her husband, Phil, have been told to prepare to spend six months — beginning as soon as the end of February — in Calgary, for Jack to have that surgery. The couple will have to rent an apartment during that time and won’t be able to work.

If the surgery is successful, however, it could mean a cure for Jack’s condition.

The surgery isn’t a sure thing, however. A bone marrow transplant comes with a long recovery with lots of waiting and medications to see if Jack’s body will adapt to the new cells. It could be as long as a year before Jack could really be in the clear.

“You just hope that the match that they found for him is a good enough one, you hope that it takes (and) you hope that he doesn’t reject it,” said Duval’s friend and coworker, Melissa Sedgewick.

If Jack’s body did reject the transplant, he could live with his condition for the rest of his life. Duval said it’s doable to live that way, but it would mean a life of minimal contact for her son, without sports and other activities that could harm him.

Duval said Jack would spend the first four to eight weeks of their time in Calgary in hospital, receiving the surgery and recovering. The following months would consist of outpatient treatment, with Duval and her husband transporting Jack to and from the hospital as needed.

They’re still waiting on a cost estimate for their trip, but Duval shared that Jack’s inpatient treatment will be covered. His medications and appointments following, as well as their family’s living expenses, will not.

“It’s going to be an uphill battle the whole way. It’s nerve-wracking, I don’t really know what to expect,” Duval explained. “As a nurse, I know what to expect but as a mom, watching your child have to go through something so traumatic is very hard.”

She noted that six months is a substantial amount of time, about a third of Jack’s life so far. The couple won’t have any family there and will likely need to limit their contacts to themselves and their hospital interactions.

For Duval, it’s one more obstacle along the road to helping her baby boy.

“I have had so many emotions over the past few months — just pure frustration, anger, doubt, guilt,” she said, tearing up. “But every time that I see Jack overcome an obstacle, I feel joy and feel so proud and I feel strength and that there’s hope that once we get through this transplant that everything will hopefully start to be in the favour of Jack.”

Both Duval and her husband have taken time off from their jobs at different points to share the work of caring for Jack because he can’t go to daycare.

“Any bump or bruise or anything can be really quite severe for him,” Duval explained.

Jack needs to be closely watched at all times for that reason. Her husband taking leave allowed Duval “to be present for my son and not have to worry about getting shifts filled.

“My husband’s a rock star,” Duval said, adding she’s grateful he has been able to help with Jack full time.

Phil has also been working to learn the medical jargon that surrounds their son.

The family is aware that their resources are being used in caring for Jack.

“Sick time, vacation time — all that kind of stuff is running low,” she said.

Jack with his dad wearing his special helmet. (Supplied/Leslie Duval)

Support through trying times

Melissa Sedgewick and Alanna Franey are also pediatric nurses at Saskatoon’s children’s hospital.

They and Duval have been friends for about the past six years and all became pregnant around the same time, along with several other nurses at their hospital. Duval then started a Facebook group called “Stroller Queens” for the group to be able to connect and share experiences given their uniquely similar predicaments.

“Our babies are literally weeks apart,” Duval shared.

“It’s really hard being a new mom in a pandemic,” Sedgewick said. “With this happening to Jack, it really is … hard for all of us.”

Franey added: “It brings it home.”

Sedgewick said it’s hard to imagine her son’s simple daily activity could result in a fall and a severe bleed like it could with Jack.

“(As) a pediatric nurse, what they are going through, it is my worst nightmare,” Sedgewick shared, with tears starting to form in her eyes. “We just want to support them as best we can and it’s been really hard during the pandemic because we literally cannot be together. The kids have maybe been together once or twice in the last year.”

Having her own child has made Sedgewick’s job “significantly harder” emotionally “because you see your own child in these hospital beds and to now know somebody who has a little guy there and he’s just, he’s such a sweet kind, he’s just so cute.”

Franey called it “a whole different kind of nightmare.”

In spite of his trying circumstances, Jack is “the happiest little boy I’ve ever met, no matter what happens,” Duval shared with a smile.

Through daily bloodwork, Duval said Jack will battle through it, sitting up when it’s done as if nothing ever happened. He might offer a whimper when a doctor enters the room to draw his blood, she said, but the ordeal always ends within a few minutes.

“(Then) he’s just back to his cheerful little self and smiling and babbling away. He’s a real fighter,” Duval said.

A few months ago, a picc line (a long-term IV) was inserted into Jack to help with his medications and bloodwork, limiting the number of needles he would need. The line became infected, however, so Jack now has to be poked each time.

Duval said that’s been a lot for him. Sometimes, Jack will cry so hard during a medical procedure that his cheek areas around his eyes will bruise with little purple spots. But Jack seems to be feeling better now and has started playing more with his toys.

“You look at pictures of him and he’s all covered in IVs and ECG leads and oxygen monitor and it just doesn’t really seem to get him down,” Sedgewick added.

Through tears, Franey expressed support for Duval and her family.

“Knowing how we feel about this, we watch Leslie and Phil and their strength and tenacity … I know we don’t say a lot of these things to your face, but it is very humbling to us and you do have the support of everybody behind you,” Franey shared with her friend.

The 15-month-old also has a cute accessory he sometimes wears, though Duval said he’s starting to show signs of having outgrown it — a sweet blue inflatable helmet with owls that Duval found on Amazon.

Her friends agree Jack is adorable in his headgear, which serves to protect his head from possible trauma.

“It’s very sweet,” Duval said. “When he first started learning to walk and was crawling more, I was like, ‘We have to get something for him, because my anxiety is through the roof.’ ”

She said it’s necessary to always be within an arms reach of her son, “and even sometimes that doesn’t cut it.”

Duval said Jack is more reserved than most toddlers his age, partially because she’s had to limit what he can do for his own protection. She frequently has to remind Jack to walk slower now that he’s moving around on his own — something she thinks he’s starting to compute.

“He’s a toddler, they’re not co-ordinated yet, they’re very much all over the place and every little bump will just give him a bruise for weeks because they don’t heal fast,” she said.

“But he’s thriving in so many other areas that I think it’s a balancing act.”

Leslie Duval’s son, Jack. (Supplied/Leslie Duval)

Hope for recovery

Duval is very grateful for the care Jack has received in the hospital. Given her familiarity with their surroundings and people there, she said it’s somewhat comfortable for her.

“It just feels like a home away from home,” Duval said.

But she doesn’t want to call any day at the hospital normal.

“It’s challenging,” she said. “It’s nurses and doctors coming in and out and medications and antibiotics. But I have nothing but great things to say about the care that we’ve received at the hospital from everybody that’s been with Jack.”

In sharing Jack’s story, Duval hopes to raise awareness about his condition. She is also organizing a blood drive in honour of Jack through the Canadian Blood Services.

Duval said her husband came up with the idea. Since the beginning of November 2021, Jack has needed nine platelet transfusions.

They’re calling the drive Jack’s Wisckott Warriors and it will take place over a few days at the end of January and beginning of February.

“I know now, being on the other end of receiving the blood, how critical it is for people in Saskatchewan to be able to donate,” Duval said. “So if you can, I urge you to because we need it.”

Sedgewick and Franey have also organized a GoFundMe page to help cover their friend’s living expenses while Duval and her husband are with Jack in Calgary.

“My hope is just that soon, this will be over, and soon the kids can play together and we can sip iced coffees in the park and it can just be normal again,” Sedgewick said.