The cause of Levi’s many medical challenges have been somewhat of a mystery throughout his young life. His medical journey began right at birth when he aspirated on meconium during delivery. Immediately he and his mother, Michelle, were medevac’d from their hometown of Kitimat to the Prince George hospital to be treated. The baby spent the following week in Prince George before coming home for the first time.
The Gardiner’s were hopeful that once at home they would find a typical newborn routine, but the first three months they were faced with extreme difficulty as Levi would cry for hours and had troubles nursing.
“We had weekly trips to the doctor trying to figure out Levi’s serious discomfort. This led us to an amazing pediatrician, Dr. Duplessis, who immediately knew something wasn’t right,” said Michelle. The family was told to pack their bags and prepare to be sent to BC Children’s Hospital for a two day stay, that later turned into three months at the hospital.
During Levi’s extended stay, the family saw many doctors and specialists at BC Children’s. They first discovered that Levi had Laryngomalacia, a condition of floppy tissue above the vocal cords, and Dystonia, causing involuntary muscle spasms. Geneticists then discovered that Levi had duplication of his 20q11.21 chromosome. Surgical interventions took place to help with Levi’s discomfort, although he still had difficult nights.
A few months after the Gardiners returned home, Levi started having seizures, causing him to be admitted again to hospital many times. He was diagnosed with Refractory Epilepsy, which means he is resistant to medication.
After the many years of testing, BC Children’s Hospital’s Neurology team discovered that Levi has two SCN2a mutations. Medical challenges associated with this mutation include: severe seizure disorders, autism, ADD, ADHD, developmental delays/intellectual disabilities, schizophrenia, movement and speech disorders, dysautonomia, dystonia, gastro issues and cortical visual impairment. Levi suffers from most of these challenges, which partially explains the medical mysteries he faced in his earlier years and links them together.
“Because this mutation is so newly discovered, the future of these children is unknown. Research is being done and our goal is to find a cure and treatment for the children suffering with this disease,” says Michelle. “Levi was number six worldwide with this mutation when first diagnosed, and now there are 150 children who have been discovered with SCN2a.”
His family feels good that they are not alone and in the summer of 2016, Michelle is flying to Chicago for the first ever SCN2a Family Conference to meet others facing similar struggles.
“Today, we have at least some answers,” says Michelle “but what the future holds is unknown. I know how much he is loved and we couldn’t imagine our lives without our little redhead.”