For the last two years, Brenda Lenahan has made a trip to Los Angeles. It wasn’t the California sun that brought her there, but the need to shed light on a disease so rare experts guess there are a few hundred cases worldwide. Cole, her three-year-old son, is one of them. Since receiving his diagnosis, Brenda has attended a conference to connect with the doctors and researchers who are working to understand the syndrome.

Cole’s symptoms started when he was just a few months old. He seemed weak and had a hard time holding up his head and sitting upright. He wasn’t crawling or babbling at ages other babies usually start to. As the months went on, “it became obvious there was something different about him,” Brenda said.

Determining what became a quest far more challenging than anyone expected. Over the course of a year, Cole was seen by a pediatrician, neurologist and geneticist. He had several genetic tests, two MRIs and a muscle biopsy. The doctors were stumped. “I was told many times that there was a good chance we would have to accept never having a diagnosis,” Brenda said.

Then, Brenda was referred by her physician to the CAUSES Research Clinic at BC Children’s Hospital.

After being accepted into the program, the family went from their home in Vancouver Island to BC Children’s Hospital to get their blood drawn.

The team at the CAUSES Research Clinic extracted DNA from their blood and ran it through a sequencer, and then their bioinformatician scoured through a long list of genetic changes to pinpoint the mutation causing the symptoms.

A few months later, they got their answer. The doctors diagnosed Cole with MCT8 deficiency, a rare inherited transporter disorder affecting mostly males, where the thyroid hormone is not getting to the parts of the brain and body that need it. It mimics Cerebral Palsy, and is usually accompanied by an impaired ability to speak, low muscle tone and movement abnormalities.

“With CAUSES, we were able to go from all billions of letters that make up 20,000 genes encoded by our DNA alphabet, to a single letter change in the MCT1 gene — truly a needle-in-a-haystack finding,” said Dr. Clara van Karnebeek, CAUSES Clinic Medical Co-Director.

Currently, there is no cure for MCT8 deficiency. However, Brenda is optimistic that Cole may be accepted into a promising clinical trial for a drug that could improve his overall health. Ms Christèle du Souich, a genetic counsellor with CAUSES, says that the diagnosis also gave Cole’s parents a clearer idea of what to expect as he gets older, and allows them to connect with other families around the world — often the drivers of such life-changing research.

In the meantime, Cole’s symptoms are managed with visits to Sunny Hill Heath Centre four times a year, where he gets support to help him eat and move. He uses an adaptive stroller, walker and a special feeding chair. Cole is also learning how to use eye gaze technology by playing games, in the hope that he will be able to use it to communicate down the road.

Brenda hopes Cole is able to continue on the path he is on now. “Progress is slow, but definite,” she said.