The discovery of a new genetic disease through high precision technology is allowing one family in Hope to finally get the answers they’ve been looking for.
“It was a huge relief (getting the diagnosis),” Sarah Traun said. She is the mother of Rebecca Traun, a seven-year-old girl who had a previously undiscovered genetic variant that was responsible for all her symptoms.
“When they came to me with her final diagnosis, that was correct, it felt very right,” she said. “Just right away, my gut feeling was like this is it. This makes a lot of sense. It was very releasing. “
Rebecca’s diagnosis was discovered thanks to the The BC Children’s Hospital Foundation’s (BCCHF) and BC Children’s Research Institute’s (BCCRI) Precision Health Initiative (PHI) program which, according to the BC Children’s website, is “a transformative approach for disease prevention and treatment that promises an individualized, molecular view of health and wellness” by “harnessing emerging technologies.”
Rebecca is described by her mother as a confident, and bubbly, social butterfly who loves spending time at school and being with her friends. She was born with an unknown genetic disease (now identified as the recently discovered genetic variant). This resulted in her having a cleft palate, extremely low red blood cell counts, was born deaf, constant fatigue, and being a frequent patient at BC Children’s. She is also immunocompromised and, according to Sarah, more susceptible to getting viral infections. It also takes her longer to recover from these infections.
Sarah said that, until she was officially diagnosed, the past few years have been a whirlwind of doctors appointments and tests to try and figure out what disease Rebecca had.
“When she was about four years old, our genetic counselor referred us over to, what was starting to be, this precision analytics team (PHI),” Sarah said. “To try and find an answer for why she was born with what she was born with. It was about a year and a half, maybe two years later, that we received her official diagnosis. Until we received that diagnosis, we were receiving lots of different diagnoses (since her birth). And several of them were not fun to receive.”
Before enrolling in the PHI program, Sarah said some of the diagnoses they received for Rebecca included Diamond-Blackfan anemia, DiGeorge syndrome, and Severe Combined Immunodeficiency. Though each diagnosis fit some of Rebecca’s symptoms, overall they didn’t feel “right” for her daughter.
Sarah said she “wanted to celebrate” after receiving Rebecca’s diagnosis as it meant finally knowing which medical department she belonged to. In this case, because her disease affects her immune system, the immunology department are going to be Rebecca’s main doctors from now on.
As such, Sarah said her family is really grateful they finally have a name and a proper starting place for Rebecca. And they are grateful for the PHI team who, according to Sarah, kept the family constantly updated.
“They continued to redo research and tests for another two years and three months,” Sarah said. “I would bring her down to BC Children’s at least once a month. The head of the research team would always visit with us. He would answer all of our questions and provide updates. And whenever they discovered something new (about the disease), he would talk to us about how this explains why she presents with this symptom and why she gets sick.
“I now understand where the mutation is on the gene. And it explains why she’s susceptible to viral infections. It explains her cleft palate and explains why she was born with sensory neural hearing loss. It explains it all.”
According to Dr. Stuart Turvey, a pediatrician who is the lead of the PHI program and the Canada Research Chair in Pediatric Precision Health, the creation of the PHI program has been a game changer in providing answers for children affected by rare diseases. In B.C., one in 25 children are born or affected by a rare disease and are “very likely to be hospitalized, occupying one in every three hospital beds at BC Children’s Hospital.” Also, half of these children may never receive a diagnosis despite countless rounds of tests and appointments with specialists.
Since April 2023, over 23 families have enrolled in the PHI program and all have been able to obtain answers. In fact, Turvey said the PHI program may be able to solve up to 25 per cent more “mystery cases,” which will push the diagnostic rate up from 50 per cent to 75 per cent.
“The idea that we can combine the clinical work, with the research, and give these families answers is hugely gratifying,” Turvey said. “I’m delighted to to be able to share that information with people like Rebecca and her family, and help them end their diagnostic odyssey.
“The precision health initiative that we have now is using this powerful new technology. And what’s different is that in the past, we used to have to go gene by gene. There’s 20,000 genes and we don’t know what they all do. So, the chances that we pick the right one that checks out, are very low. But with this new, powerful technology, we can look at all the genes at once.”
Another, recent, example is the discovery of the gain-of-function MARK4 disease — a new genetic disease caused by changes in the MARK4 gene. The gene was first discovered in two siblings through standard genetic testing. However, because no known neurodevelopmental disorders were associated with a change in the MARK4 gene at the time, doctors were unable to figure out exactly how the change was affecting these siblings.
“With patients like this, we use this powerful technology called next generation sequencing,” Turvey said. “And that allows us to sequence the genetic makeup of the children. Using that technique, we found a change in the MARK4 gene. When we looked at what people knew about this gene, we knew it was important for the brain and we knew it was important for the way neurons develop.
“What the PHI was able to do was several years (two to three years) of experiments in the lab expressing the boys variants of this chain and comparing it to the more common versions. And we showed that the genetic change caused that gene to function quite differently. So, we linked this genetic change to the boys’ symptoms.”
After making this discovery, Turvey and his team published their findings in international literature. Through sharing their findings, Turvey said that other children around the world, found with changes in the MARK4 gene, will be able to get a diagnosis much quicker. It also allows for more research and discoveries to be found with the disease, as well as the creation of potential treatments.
For Sarah and her family, they’re happy that they can now concretely start the next chapter in Rebecca’s medical journey and future.
“The PHI is a great program,” Sarah said. “It’s so important, and I would hope that all families can go through the program and receive answers. It’s a very, very, isolating journey, trying to find answers for your child. And with your children, you just want to do everything you can to take care of them and help them have a good life. And this program is amazing.”
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