Wait for genetic tests too long for girl who cries in pain
Mother of Upper Island Cove child says family would have answers if they lived elsewhere
UPPER ISLAND COVE, N.L. – Sometimes talking about her three-year-old daughter’s difficult life overwhelms Kristi Mercer.
“Our daughter is crying in pain all the time and is awake,” Mercer told The Compass over the phone from her home in Upper Island Cove, the sentence trailing off as tears set in. “Awake at night times. All the time crying in pain, and we can’t help her. We can’t get the help that we need. Nobody can diagnose her.”
The family began to realize something was wrong with Cheyenne when they noticed she could not sit up at the age of 10 months. The young girl, who turns four later this year and uses leg braces to walk, has since had appointments with multiple specialists at the Janeway Children’s Health and Rehabilitation Centre in St. John’s. Kristi said just about everyone has come to a similar conclusion – Cheyenne has some sort of genetic syndrome or disease impacting her muscles.
“Most recently, we waited seven months to see a neurologist who looked at her and said he feels she has some form on congenital myopathy, which is basically an umbrella term that covers multiple diseases of the muscles,” said Kristi, who is also a trained nurse.
Cheyenne has been on a waitlist to see a medical geneticist for close to three years, but there’s no appointment in sight. Her mother says she hasn’t even been able to get a ballpark figure for how much longer the wait could be.
“I’m having serious issues getting my daughter the health care that she needs here in this province,” Kristi said.
Multiple specialists who have met with Cheyenne have suggested her genetics are the missing piece of the puzzle.
The Mercers have brought Cheyenne’s situation to the attention of the local MHA, Eastern Health’s client relations office and the provincial health minister. Tuesday, April 16, Cheyenne and her mom were scheduled to fly to a Shriners hospital in Montreal for an appointment with a physiatrist specializing in physical impairments and disabilities. Kristi initially reached out to the organization in January.
“We’ve talked long and hard about leaving here, because it’s not only the testing that she requires to get the health care that she needs. It’s also the wait times that we’re facing in this province for health care. She’s been passed around from specialist to specialist to specialist since she was such a small baby, and you can imagine the wait times we’ve looked at.”
Kristi is originally from Shoal Harbour but grew up in the Northwest Territories. She believes a solution would have been found by now if the family had moved elsewhere in Canada when Cheyenne’s problems were first noticed.
“The Janeway is a wonderful place and we’ve had very positive experiences there, but unfortunately, their outpatient services leave a lot to be desired.”
Three years in, Kristi feels she has done just about all she can within the province to advocate on her daughter’s behalf.
“The unknown is so frightening,” she said. “We’ve known something is wrong with her since she was very, very small, and now she’ll be transitioning to the KinderStart program, and then on to kindergarten, and we don’t know what kind of support she’s going to need and what her future is going to look like. We don’t even know what type of disease she has.”
Seeing how backlogged medical geneticists in the province are with appointments, Kristi knows there are families in a similar situation, waiting patiently for a piece of information pivotal to improving a person’s outlook on life.
In a written response to The Compass, Eastern Health confirmed it has two geneticists and nine genetic counsellors employed, with a new counsellor due to start working for the regional health authority in July. Wait times average from one to four years.
“All patients referred for genetic consultation are triaged and are placed on a waitlist based on the medical history information provided in their genetics referrals,” the health authority said. “Priority referrals are seen within three to six months.”
The health authority said work has been ongoing to reduce the current waitlist and shorten wait times for patients who need to access genetic services. The waitlist is reviewed to make sure patients are seen in order of highest priority. When appropriate, group clinics have been utilized to serve those who have already been diagnosed as a means to further reduce the waitlist.
The health authority also noted it cannot publicly discuss individual cases due to the Personal Health Information Act.
Three-year-old Cheyenne Mercer walks with braces on her legs and is up frequently at night crying about pain she experiences.
Cheyenne Mercer in the arms of her mother Kristi, surrounded by the rest of her family, from left, sister Larrissa Antle, brother Blake Mercer and father Larry Mercer.