Logan: The Importance of a Diagnosis and Identification of an Extremely Rare Disease

Logan is an 18-year old who loves to play hockey, swim with dolphins and take the occasional spin around Orlando’s Nascar Speedway. As part of his recent graduation ceremonies he participated in a seven day hiking trip in the Rocky Mountains, in a trail rider with his classmates and father close by. The fact that Logan has a degenerative neurologic disease which severely restricts his independent mobility does not stop him. As his father says, “We just adapt and find a way to make it happen.”
Logan has a rare disease – which for the past 14 years has remained undiagnosed. Now, through his participation in TIDEX, researchers at TIDE believe they may be close to a diagnosis. In fact, the decision to enroll Logan in TIDEX has brought the family the closest they’ve been to understanding their son’s disease in 14 years, when it first became apparent that Logan was not developing at the same pace as his peers.
“One day, Logan was in the park with his grandparents, when he had trouble getting his leg on the slide – he had to move his leg with his hand and that’s when we thought, “something wasn’t right,”” Debbie said.
“So we saw a pediatrician in Kelowna, who tested Logan’s reflexes and found they were absent. He also was found to have sensory neuropathy.”
Debbie
The Millers went to see their doctor and within three weeks were referred to BC Children’s Hospital. That was in 2000. Since then Logan has suffered memory loss, eye movement impairment and muscle weakness. “We have had numerous tests and seen numerous physicians over that time; no one could find out what was going” Debbie said. “We began seeing Dr. Clara van Karnebeek around four years ago and she mentioned the TIDE program.”
Specifically, Logan was enrolled into the gene discovery study in which Dr. van Karnebeek’s group applies genomics and metabolomics technologies to establish diagnoses, discover new genetic diseases and develop treatments. This program grew out of the successful TIDEX pilot study, once funding from the Canadian Institutes of Health Research and Genome BC was obtained.

“We have identified the SORL1 gene as a potential candidate,” Dr. van Karnebeek said. At this time, the Tidex group in collaboration with researchers in Berlin, are working to confirm that the SORL1 mutations are the cause of Logan’s very rare neurodegenerative condition.
“Logan carries a mutation on both copies of that gene – which is extremely rare. Although a mutation affecting a single copy of the gene has been reported in Alzheimer patients, we know of no one else in the world with two defective copies. “
Dr. van Karnebeek
Stacks Image 1273

The importance of a diagnosis

The importance of having a diagnosis cannot be overstated. “It would be extremely important – not only for Logan, because he’s always expressed an interest in knowing – but also because we are his advocates –we want to make sure we’ve done all we can,” Rick said. “Beyond that, there may well be others who have the same mutation so if we can help others, so much the better.”

Debbie agrees. “As parents, you’re always wondering if there’s more you could be doing –have you missed something. If we have a diagnosis we can look into new research to see if there’s something that could slow the disease down.”

Also important is the fact that Logan has a younger brother. “Having a diagnosis is important to him because he will want to know if this could affect his kids someday,” Rick said.

Although Logan’s illness is degenerative and he is now at a point where, for safety issues, he requires 24 hour supervision, he loves adventure and knows how to enjoy himself.

“Logan likes to have fun and he wants to be included,” Rick said. A few years ago we’d pull him behind the boat in a tube and he always wanted to go faster. He goes skiing in the winter using a Sit Ski – he can ski anywhere from 15-20 days a year. He loves being out and active.”

The family also won a trip to Disney land. “It was our first trip as a family,” Debbie said. “We went to SeaWorld and San Diego Zoo. As a result, Logan’s Sunshine Dream wish was to visit Disney world and in 2013 that was granted. “We took the whole family – five days – it was a lot of fun.” The “fun” included the Tower of Terror – a personal favorite of Logan’s and a trip to Discovery Cove where they swam with dolphins and manta rays. Then it was off to the Orlando Speedway where Logan went for a ride around the course with a special driver at a very high speed.

The Tidex Experience

Both Rick and Debbie believe in the importance of programs like TIDE. “I have benefited from research, as both my father and grandfather were on their deathbeds and it was new science that helped them with what have now become commonly known illnesses, and they’re treatable,” Debbie said. “Rick’s brother has had leukemia and it was new science that helped. We really respect scientific research, and every little bit that we can give may help another little boy or girl.”
They credit the staff and doctors at BCCH with making their diagnostic journey that much easier. “Our experience at BCCH has been absolutely amazing,” Debbie said. The staff, the doctors, everyone involved, has been wonderful. Working with Dr. van Karnebeek and the communication involved in the TIDE program has been very comforting, speaking as a parent. They are very special people and have made the journey for Logan much easier.”

When asked what advice the Millers would give to another family in a similar situation to theirs, Rick says it’s important to remain positive. “Here we are—14 years later—we are as close as we’ve ever been to finding a diagnosis. Giving up isn’t an option.”
“Here we are—14 years later—we are as close as we’ve ever been to finding a diagnosis. Giving up isn’t an option.”
Rick

Patient Stories

We see many patients and each and everyone has an unique story...

…we like to share these stories with you to explain what TIDE is about
and what TIDE means from a patient point of view

Funding

TIDE-BC is the first Collaborative Area of Innovation funded through the BC Children's Hospital Foundation, Vancouver, Canada. To expand the project (inter-)nationally funding application is ongoing.

Copyright 2011 - 2016

All information on this website is under the copyright of the authors
Stacks Image 3584

Contact Information

TIDE BC / Biochemical Diseases Clinic
BC Children's Hospital
Rm K3-208, ACB
4480 Oak Street
Vancouver, B.C. V6H 3V4

Phone: 604-875-2628 (administrative)
Phone: 604-875-2880 (clinic)
FAX: 604-875-2349