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

The Western Star - - CLOSE TO HOME - AN­DREW ROBIN­SON

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.

CON­TRIB­UTED PHOTO

Three-year-old Cheyenne Mercer walks with braces on her legs and is up fre­quently at night cry­ing about pain she ex­pe­ri­ences.

CON­TRIB­UTED PHOTO

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.

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