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The parents of an Alberta toddler are seeking help after receiving a one in 7.8 billion diagnosis that has left their son with seizures and paralyzing migraines.
Kurt Fraser and Dana Christensen’s son Brandon, was diagnosed with epilepsy caused by a gene mutation that is so rare, he is believed to be the only medically documented case in the world.
According to a GoFundMe set up to alleviate the medical costs and stress on Fraser and Christensen, Brandon was referred to specialists shortly after he was born due to multiple medical concerns. However, the outbreak of the COVID-19 “delayed” the opportunity for a proper diagnosis and treatment. Despite the pandemic, the family was able to meet with specialists and “seemed to be heading in the right direction.”
Things changed in August when Brandon was rushed to hospital where he experienced “hours of seizing” as doctors tended to him. Doctors diagnosed the then 9-month-old with epilepsy and Fraser and Christensen had to quickly learn how to navigate life with the disorder, and purchased monitoring equipment for their home.
On Dec. 20, just four days after celebrating his first birthday, Brandon was admitted to the ICU with seizures. After several weeks of tests and “multiple setbacks” doctors received the results of genetic testing that had been expedited to Finland for analysis.
“(They) explained that his genetic mutation is the only one that they have ever documented,” Fraser said in an interview with CTV.
Dr. Billie Au, a clinical geneticist at the Alberta Children's Hospital, said that although there are other people in the world that have mutations of the same gene, Brandon’s form of mutation is entirely unique.
“The fact that his mutation has not been seen means it's hard for us to predict what he's going to be like in the future because we can't really compare to people with the same mutation” Au told CTV.
Fraser and Christensen are now trying their best to adjust to the diagnosis which prevents the added challenge of an unknown path for treatment.
“It explains a lot of the health problems that he's having right now. It's good to have an answer – we just didn't expect it to be that answer, I guess,” Fraser said.
In addition to seizures, Brandon suffers from severe migraines on one half of his brain that causes partial paralysis that lasts for weeks and sometimes months. The family said that the migraines can cause the now 13-month-old to start seizing and can cause multiple set-backs, such as requiring powerful medication that requires doctors Brandon to be ventilated.
Au said Brandon will likely require lifelong support - as will Fraser and Christensen, who have felt the strain of navigating the diagnosis during a global pandemic.
“The social supports aren't really accessible and you can't have your friends and family to rally around you in person,” Au explained. “I think for families, in this situation during the COVID-19 pandemic, it's been particularly difficult because visitors are limited and you can't have people coming to your house to help out."
Family and friends have helped organize a GoFundMe page to help alleviate the medical costs and stresses that have accompanied Brandons diagnosis.
According to the fundraising page, Fraser was diagnosed with multiple sclerosis (MS) in 2018 and Christensen has a mobility condition.
“Needless to say, it has been a difficult couple of years for this little family,” the page reads. “Regardless of Kurt and Dara’s health concerns, Brandon’s care and comfort are their main priority.”
Donations can be made to Brandon’s page here.