Community rallies around Calgary toddler diagnosed with rare, one-of-a-kind genetic mutation

A Calgary toddler is finally home after spending nearly a month in the hospital having undergone extensive treatment and tests.

Fourteen-month-old Brandon Fraser has a condition so rare, it’s believed to be the only documented case in the world.

The one-in-7.8-billion chance mutation causes epilepsy and extreme seizures.

His parents Kurt and Dara Christensen said their son spent months in and out of the Alberta Children’s Hospital undergoing tests. Doctors, at the time, were unsure what was causing the seizures — and what his condition was. After months of genetic testing, doctors discovered he had a gene mutation.

“He’s actually the only medically documented case in the world with this gene mutation,” Kurt said.

“Unfortunately, it causes him to have epilepsy and quite severe seizures, as well as hemiplegic migraine, which presents like a stroke after the migraine happens, and lasts for weeks to months.”

The first seizure happened last August. Kurt and Dara originally thought it was epilepsy but more tests revealed that rare condition. Then, in December, Brandon started getting more seizures. They were so severe, the young boy had to be hospitalized.

“They started to do more testing, and that all takes time. But at least we have an answer. We just didn’t really expect it to be that answer,” Kurt said.

Because of the COVID-19 pandemic, the process has been even slower. The family said they had challenges with getting to see anybody but their son was ever resilient, and stayed true to his happy and joyful personality.

“Even when we’re in the hospital, he was just smiling and looking around and just really happy with all the nurses and doctors, even though they’re poking and prodding him. He’s just been the most amazing baby, like, he doesn’t fuss hardly at all,” Kurt said.

Tweet This Click to share quote on Twitter: "Even when we're in the hospital, he was just smiling and looking around and just really happy with all the nurses and doctors, even though they're poking and prodding him. He's just been the most amazing baby, like, he doesn't fuss hardly at all," Kurt said.

Alberta Children’s Hospital clinical geneticist Dr. Billie Au said she had seen cases similar to Brandon’s before, but his specific mutation has “not been reported in the literature.” Au said she was curious about Brandon’s condition and after more tests, she sent the samples to Finland to verify.

“I was quite suspicious of an underlying genetic condition, given the way he was presenting,” she said.

“We had ordered what we call… (an) epilepsy gene panel… (which) in the last few years, this has become more routine where we ordered these larger gene panels and we asked for them to be done rapidly to get a faster answer for parents.

“We had an answer within a few weeks, actually. But the mutation that was found in Brandon, we weren’t able to confirm that it was truly disease-causing… we had identified that it was a new mutation in Brandon and not coming from a normal parent… that really did help explain Brandon’s issues, especially useful when he was admitted again, for needing seizure control, because they were having a hard time getting his epilepsy under control.”

As for prognosis, Au said it’s hard to say what his future will look like.

“He still is really young, and sometimes we can speculate, based on the gene and the mutation. But that is still limited, to some extent, if we haven’t seen that specific mutation before,” she said.

Tweet This Click to share quote on Twitter: "He still is really young, and sometimes we can speculate, based on the gene and the mutation. But that is still limited, to some extent, if we haven't seen that specific mutation before," she said.

Au said she expects there to be ongoing issues with seizures and development delay for Brandon.

“Given that he presented very early and that they’ve had such a hard time getting… seizures under control with medication so far,” she said.

The prognosis and Brandon’s long-term future is something his parents are concerned about. Brandon is currently undergoing physiotherapy at home. He’s also on medication to control his seizures.

“Unfortunately, there’s no cure for this,” Kurt said. “This is going to be lifelong for Brandon.

“He’s on several different medications right now just to keep his seizures under control and to try and control his migraines.”

“We’re really positive and optimistic, just doing what we can to help him have the happiest life he can have,” Dara said.

Tweet This Click to share quote on Twitter: "We're really positive and optimistic, just doing what we can to help him have the happiest life he can have," Dara said.

As of Thursday, a GoFundMe page had raised more than $70,000. Money will go to Brandon’s medication and medical supplies, and any other costs not covered by insurance. The family will also have to retrofit their home to better suit his needs.

“We never expected for any of this to happen,” Dara said. “And we’re just thankful and very grateful, for everyone.

“He’s just — he’s a little ball of energy. Like Kurt was saying, just giggles and smiles galore.

“We just want the very best for him, and with all this help we’re getting, it can only help him even more.”