CVMC Pediatric Therapists Help Two-Year-Old With Rare Genetic Condition Make Strides
By Lexie Murray, Mother of Seumas (age 2)
[Seumas Murray has a mutation of his KCNQ3 gene, a rare condition that causes developmental delays, seizures and cortical vision impairment. With less than 50 known cases worldwide, his medical team works to learn more about his condition and help the family navigate treatment.]
When Seumas was about 6 months old, we realized he was different. Though he responded to us, he would not look at us and was not reaching milestones. When we raised our concerns to his pediatrician, we were referred to neurology and ophthalmology specialists, as well as to Early Intervention for physical, occupational and speech therapy.
In September 2017, at 10 months old, Seumas began physical and occupational therapy with Larissa Gillespie, PT and Kate Gaylord, OT at CVMC Rehabilitation Therapy. At the time, he had barely begun to sit unassisted, and he refused to spend time on his tummy, but would not roll either. Being a very relaxed baby, and given his visual impairment, it was hard to find what motivated him. His hands were constantly closed in a fist, and he had very little strength to use his arms to push upward.
Larissa and Kate worked very hard to discover what did motivate him. After months of trial and error, now, at just over two years old, he has made incredible progress. We continue to work with him on learning to coordinate his body to hopefully crawl someday, and he is now very motivated to pull to stand. Although his orientation is not a strength due to his visual impairment, he is able to walk around in his Rifton Pacer. While his motivation and excitement is focused on standing, he has also made great strides in his fine motor. He can now self-feed, which he was unable to do less than a year ago.
Both Larissa and Kate have been huge supports for our family, inside and out of the therapy room.They have been an open ear to my own frustrations as a special needs parent navigating a sometimes very confusing, and unknown territory.
They have made sure that Seumas has the equipment he needs to grow and navigate his environment, and have connected us with services outside the home: one such service being Go Baby Go at St. Michael’s College, which modifies and adapts Power wheels for children with limited mobility.
Most recently, they have supported us in the process of applying for a multipurpose service dog for Seumas through 4 Paws for Ability. Larissa was more than happy to write a letter of reference, sharing her experience of working with Seumas and myself on a weekly basis. Having a service dog will help Seumas achieve a higher level of independence as he gets older.
We look forward to our continued relationship with Larissa, Kate, and the rest of the staff at CVMC Rehab!