New Bothwell baby suffering from rare genetic disease

Simon and Jena Martin were ecstatic when they gave birth to their son Maverick about a month ago. But their joy turned to concern when they were told by doctors that their son has a rare genetic disease that could kill him.

For the last five years, doctors in Manitoba have been pre-screening for diseases in newborns and during Maverick’s screening, doctors found he had severe combined immunodeficiency syndrome, or SCIDS.

SCIDS are a rare group of genetic disorders characterized by the body’s inability to create functional T cells and B cells. SCIDS is the most severe form of primary immunodeficiency, making sufferers extremely vulnerable to infection due to their highly compromised immune system. Simon was told by Maverick’s doctors that only one in every 70,000 kids will get SCIDS and that Manitoba sees two to three cases per year.

“Honestly, it was kind of just one of those things where you hear it, you’re confused, you don’t necessarily think it’s real. And honestly, that kind of feeling was – (it) took a long time to get over – especially because you see your son and he appears to be healthy,” said Simon.

“And so it takes quite a while for your brain to kind of go, okay, this is actually real, especially once you start going to a lot of appointments and you see everyone who touches your son is putting on all types of protective equipment just to enter the room with him. And it’s like, okay, this is crazy.”

It is unknown whether the Martins’ year-and-a-half old daughter, Zarah, has the condition.

“There’s two potential outcomes for this. One outcome is that it’s just completely random, which does happen, and there’s no known explanation of why it happens. The other outcome could be that it was passed down genetically,” said Simon, who added that Zarah she could have SCIDS and is not presenting any symptoms because this disease attacks the X Chromosome. Since Zarah has two X chromosomes one of those chromosomes can be damaged while the other one stabilize’s her. Since males have one X chromosome, the condition presents itself.

In order to treat this illness, Maverick needs to have a bone marrow transplant and chemotherapy. Simon was found to be a match and will be Maverick’s donor.

“I definitely think he has a fighting chance. I feel like there’s light at the end of the tunnel. We know for sure it’s a long road and there’s hard things coming up that’s for sure, but we’re very hopeful that the outcome will be successful at the end,” he said.

The family’s life has changed drastically since the SCIDS diagnosis. Since Maverick is immune-compromised, his family can’t leave the house except to go to the hospital as they fear they might bring home an illness or germs, which would be difficult for Maverick to fight.

As a consequence, Simon, who is the sole breadwinner of the house, had to leave his job in construction. He also had to stop going to school to be an air traffic controller. Buying groceries has become difficult, visiting with family and socializing has become non-existent, and soon the family will have to move to the Children’s Hospital in Winnipeg for three-and-a-half months as Maverick receives treatment. For six weeks, Zarah will be separated from her parents and brother as a precaution until after treatment. She will stay with relatives during the six weeks. For Christmas and the couple’s anniversary, the family will be apart. Maverick recently got a line put into his heart so that medical professionals can inject medicine directly into his blood stream.

“It’s definitely rocked our world significantly knowing that your son has such a severe condition, right?” said Simon.

Simon said the doctors seem quite confident about Maverick’s chances of survival, giving him a 90 percent survival rate after treatment as technology has improved in recent years for SCIDS.

“After a significant period of time, so this would be about a year after his birth, so we’ve got 10-and-a-half, 11 months from now that we should see significant improvements,” said Simon. “And as long as he can kind of stay extraordinarily healthy until that point, and nothing goes wrong, and his body doesn’t reject the donor, the transplant, and everything goes well, then by the time he’s about a year old he should be relatively back to normal.”

Even if Maverick stays healthy after a year, he will still need monitoring by doctors until he is 30 years old. What Maverick’s health will be after 30 is unknown.

The Martins have agreed to participate in a study on SCIDS at Children’s Hospital so that doctors can better understand this genetic disease.

Since Simon can’t work, he only gets 55 percent of his salary from EI, and he doesn’t have insurance, he and his wife have opened a GoFundMe page where they’re hoping to raise $20,000. To date, the site has raised $13,000.

“It’s going to be a very long process. It’s going to be, you know, around a year of continuous isolation. You can be smart and have three months saved up for your mortgage and your car payments and your meals, all these things. But nobody really plans to be, you know, have no income for a year,” said Simon.

Simon, who is a volunteer firefighter in New Bothwell, said the department and the town have really rallied around his family by making donations to the GoFundMe page and by offering to make meals for the family.

“But, even through all this that we’ve been through so far, he’s doing really good. He’s happy,” said Simon. “He’s growing very well. I guess at the end of the day, it’s great that he won’t remember any of this when he’s an adult.”

To support the family, visit gofundme.com/f/help-our-family-support-our-baby-with-scids.