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Kamloops parents of child with rare genetic condition move to Calgary for therapy

Emma Shingleton was born with a rare medical condition called KAND. Her parents are working hard with her to help her build strength twice per week at a therapeutic centre in Calgary.
Image Credit: SUBMITTED/Amanda Burritt
June 08, 2021 - 8:00 PM

Earlier this year, a young Kamloops couple learned their child has a rare genetic condition.

Amanda Burritt and Jaime Shingleton moved to Kamloops from Vancouver in 2018 with plans to raise a family. Amanda secured a job at the hospital as an LPN while Jaime got a job at a local machine shop.

In October of 2018, the couple learned they were pregnant for the first time and the following June they brought their baby, Emma, into the world.

“Emma’s birth weight was six pounds, eight ounces,” Burritt recalled. “She was healthy from the start and such a wonderful addition to our family. I was literally obsessed with her and our new life as a family. She was such an easy baby and I was really proud of myself for transitioning to the mom role so easily. She continued to be a very calm baby so when she started falling behind in her milestones at age seven to eight months, we had to wonder if it was just because she was so easy going.”

Burritt took Emma to Children’s Therapy & Family Resource Centre in Kamloops at ten months old. Emma was still not crawling or sitting unassisted. At Emma’s one year checkup she was referred to a paediatrician. Burritt says Emma’s lack of awareness to her environment was a concern to the paediatrician, so she was referred to an ophthalmologist and to B.C. Children’s Hospital for more tests.

“Emma’s ophthalmology appointment was our first small piece to the puzzle,” Burritt said. “Her eyes were completely healthy but her optic nerves appeared smaller and paler than they should have been. A few weeks later we spent four days at B.C. Children’s Hospital where Emma underwent more tests. Everything looked normal except her MRI showed Optic Nerve Atrophy. We left the hospital heartbroken. We didn’t get any answers about why this had happened but it was confirmed that Emma was blind.”

The family then had genetic testing done to find the cause of baby Emma’s vision impairment and developmental delays. While waiting for the results, they went to Vancouver for intensive physiotherapy to help Emma gain strength. When they returned home they continued to do the exercises with her. The months passed by as the couple waited for answers. 

“February 26th, 2021 was the day our lives changed forever,” Burritt said. “We finally got the diagnosis we never expected. Emma was diagnosed with KAND, Kif1a associated neurological disorder. This is a rare neurodegenerative disorder that is said to be progressive. There are only just over 300 cases worldwide and because of this there is little research on what to expect. Emma has low muscle tone, optic nerve atrophy and visual impairment, and is said to be delayed in all ways.”

The family did not pause on their mission to help their daughter live her best life. They started taking Emma to Calgary where she could receive optimal therapy. On May 28, they completed a permanent move to Calgary.

“We moved in last week,” Burritt said. “We are paying for private therapy twice a week at SMILE Therapy for Kids, the same place we brought her in April. The whole reason we left Kamloops is because B.C. is so behind the times on setting disabled children and their families up for success. It is a fight we special needs parents don't have the energy for. There are so many programs available here for special needs children that we couldn't not make this move for Emma.

"So far it has been going well. Emma seems to be doing well in her new environment. Jaime was able to find a job here. There is one other family in Alberta with a child with the same condition and we have been able to connect on social media. Hopefully we can meet in person as soon as we are settled. Our future as a family is to continue to give Emma everything she needs to thrive and succeed and do everything in our power to give her the best life.”

— This story was updated at 3:44 p.m. Wednesday, June 9, 2021 to correct Amanda Burritt and Jaime Shingleton's names.

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