In 2020, doctors had discovered two rare abnormalities on her kidneys. “She had tubal cysts and diffused melangial sclerosis,” Robin says. “The nephrology team was very perplexed because you usually don't see the two together, especially at such a young age.”
The doctors suggested genomic testing; using DNA from blood samples to identify the letters in the genetic code, how the genes are transcribed, how they function and what proteins and chemicals they produce. “When they offered this to us, it was an avenue toward an answer,” says Feisal Somji, Alysha’s dad. “I was very excited about it. It was: Okay, let's go down this road and let's find out what's going on so we know how to treat it, what to do and what to look for.”
The initial sequencing of 350 genes came back inconclusive. A second round of testing, funded in part by Genome Canada
, sequenced 20,000 genes and found a mutation on Alysha’s TRIM8 gene, which is expressed in the kidneys and central nervous system.
“Nobody in Calgary was really thinking about TRIM8 because it’s such a newly discovered genetic mutation. To this day there are maybe a dozen kids worldwide that have been diagnosed with it,” says Feisal. Information is limited, but so far, it’s known TRIM8 is characterized by kidney damage, early-childhood onset epilepsy, motor and developmental delays and speech disorders.
The Somjis didn’t have to wait months for the test results. “Within 10 days we had an answer and knew what we were facing,” says Feisal. “One, it was a relief because we had an answer but two, it was a quick 180 turn to what does that mean? What else is there to deal with?”
The family is on “high alert” for any seizures and they’re ready to provide Alysha with anti-seizure medication if needed. “In hindsight, she has had several silent seizures,” says Robin. “Several EEGs indicate she is at a very high risk to have a seizure, and should she have one, then she'll probably have several more.”
While providing a “clearer roadmap” of what to expect with their daughter’s healthcare, the genomic testing, which included Robin and Feisal’s DNA, also provided “real peace” regarding Alysha’s twin brother, Nicholas, because it found a new genetic mutation, not an inherited condition.
“It was obviously very emotional to me because I found out there could be more problems with my child than just her kidney and that she could have cognitive delays,” says
Robin. “But now, we're able to plan what happens if she has a seizure, we're ready for it. If we didn't have that genetic answer, we would've been dealing with the kidney failure being oblivious to the possibility of seizures. It’s helped us feel more in control.”
Seven-year-old Alysha meanwhile—freed of dialysis—can finally go swimming. She has more energy to learn her grade one lessons at school. And, she’s taking care of her new kidney, dubbed Elsa, from the movie Frozen.
“Elsa's door is the big incision on her tummy and Elsa lives in a new castle now,” Robin says. “She’s got a lot to do to take care of Elsa and make sure she's building the castle. Should she have a seizure, we’ll focus more on that at that time. You can't pile too much onto a kid and she's had a lot piled onto her. So, it's one thing at a time.”