Melika Ghanaati on growing up at SickKids and her journey for answers

Despite the long and complex diagnostic journey she's been on, Melika is still waiting - and determined - to find answers.

"I have big questions about what my life will hold," she says. "For example, will I be able to have kids one day? Having questions like that and never knowing how to plan for your future is frustrating."

In October 2022, Melika's care team told her that all the standard clinical options had been explored in finding a diagnosis, but hope was not lost. They turned to clinical research opportunities to charge ahead. In July 2023, she enrolled in a study called SickKidsSeq, a research initiative within the SickKids Precision Child Health (PCH) movement that broadens access to genome sequencing for patients and families who can't access it through standard clinical care.

A key focus of the PCH movement is working to close the gap in undiagnosed conditions and finding answers for patients like Melika. Genome sequencing can help identify the genetic causes of both rare and common medical conditions, unlocking the potential to uncover other key factors that can facilitate diagnosis, and guide the individualized care that is a hallmark of precision medicine.

Even so, genome sequencing only yields answers around - a figure SickKids is trying to improve by investing in innovative research, tools, technology and leveraging the expertise needed to move the dial.

For Melika, it didn't reveal a genetic cause or diagnosis...but it did move her further along in her journey to understand her condition.

"Using genome sequencing allows us to look at all genes at once," says Anna Szuto, Translational Genomics Program Manager and Melika's Genetic Counsellor. "This approach allowed our research team to identify a variant in a gene that we would not have otherwise specifically sought to test."

"The variant we found is currently classified as a variant of uncertain significance (VUS)," she explains. "The 'maybes' associated with VUS remain a big challenge for patients with rare diseases. Next in our quest to provide Melika with answers, we'll use RNA sequencing, which allows us to look at how the body interprets the genetic code rather than looking directly at the genetic code itself. RNA sequencing is one of the approaches that we can deploy to help resolve some types of uncertainty."

Both Melika and her care team are invested in unlocking more pieces of the complex puzzle that makes up her condition. The goal is to help her move into the next stage of life, and transition to adult care, with confidence.

"Being close to a diagnosis - it's kind of like pouring water over a fire," Melika says. "It's exciting to feel closer to an answer I've spent my whole life looking for."

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