TheStar.com – Ontario – New hope for Ajax ‘bubble boy’
Tracy Kulas-DesLauriers holds her son firmly by the shoulders and pleads with him, with exasperated bemusement, to please stop spinning.
“It will make you dizzy, Parker. It will make you fall down!”
But when she lets go, he’s a human top again; twirling, twirling, running toddler circles around his kneeling mother and around all that medical expertise that said he likely wouldn’t do what he has so obviously and gleefully done.
Parker DesLauriers has ADA-deficient severe combined immunodeficiency – a form of “bubble boy” disease.
With the frenzied energy of a 2-year-old bent on being naughty, he has every appearance of brimming health.
But his immune system remains massively compromised and Parker, who celebrated his second birthday in January, is a virtual prisoner in his antiseptic Ajax home.
“We’ve been confined, basically for two years and it’s taxing. I mean it gets to you after a while,” his mother says.
Basically, the only time he leaves the house is for twice-monthly visits to the Hospital for Sick Children, she says.
The disease, a rare genetic ailment caused by one malfunctioning gene on chromosome 20, leaves him with almost no working T and B blood cells, which are essential to a body’s immune system. Without these white blood cell components, Parker is almost entirely unable to fend off any harmful virus or bacteria he encounters.
But there’s hope in his mother’s voice now, and a rising confidence that one day, maybe soon, her little boy will enjoy a normal childhood.
Because, deep in Parker’s bone marrow, a seeding of genetically modified stem cells may be sprouting a new immune system.
“We have reason to believe that it’s definitely working,” Kulas-DesLauriers says of the cutting-edge gene therapy her son received in Italy.
The process, which took place in Milan last May, involved harvesting Parker’s bone marrow, from which doctors removed a number of the stem cells that can produce every type of blood cell, including the disease-fighting cells Parker lacks.
Then, using a virus as a transporting vector, they inserted a healthy gene into the stem cells to counteract its defective counterpart. That gene produced an enzyme known as ADA, which is critical in protecting T cells from rapid destruction in the body. Without T cells, antibody-producing B cells do not perform properly either, leaving the entire immune system in shambles.
The genetically altered stem cells were reintroduced into Parker’s marrow. Now, some nine months later, his T and B blood cells have substantially improved.
When he was born, Parker had a lymphocyte count of 80, his mother says. Now it fluctuates between 700 and 900, she says. A normal count would be about 2,000, doctors say.
“The main thing now is the fact that he is producing these cells, something he was never able to do on his own before,” she says.
Parker will return to Italy this May for a one-year follow-up. Meanwhile, the quarantine of the outside world from the family’s Ajax home must be maintained.
“He can’t play with his little cousins or anything … little kids are bacteria carriers,” says grandfather Roy Kulas, who, with his wife, Parker’s fraternal grandparents and the boy’s parents, are the only people allowed to pick the toddler up.
“Still, he’s a good happy lad, and a joy to be around,” Kulas says.
Financially, the disease has been devastating for his parents, who both had to quit their jobs as teachers – with their professional obligation to be around kids and germs – after Parker was born.
They’ve been living off savings, fundraising events and support from family and friends. “I had a nice house, I had a great job, I had everything going for me and now all of a sudden, I’m in this position where I need to ask for help,” Parker’s mother says. “I’m going to lose this house. I’m going to lose everything that we’ve worked so hard to get.”
The family will be holding a fundraising golf tournament June 1 at the 4 Seasons Golf Club in Claremont. Anyone wishing to buy tickets or donate can email firstname.lastname@example.org.
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