According to a story from the Greenock Telegraph, twelve year old Megan McGarva, who was born with CDLK5 deficiency, will soon have to face a serious spinal operation. She has scoliosis with a spine curvature of 64.5 percent. In addition, her disorder also has taken her ability to speak, walk, or feed herself. She is also plagued by frequent seizures, requiring almost constant care.
About CDLK5 Deficiency
CDKL5 deficiency disorder is a genetic disorder which is characterized by intellectual disability, seizures, and developmental delays. As the name suggests, the disorder is linked to mutations of the CDKL5 gene which usually occurs spontaneously and is not inherited from a person’s parents. Symptoms become noticeable in the first few months of life. Females are affected more frequently than males, but males tend to have more severe symptoms. These symptoms can include seizures (1-5 per day), constipation, distinctive facial features reflux, teeth grinding, and problems with feeding and sleeping. Treatment options for CDKL5 deficiency disorder are limited and are primarily focused on minimizing symptoms. Some patients may require a feeding tube. There is a serious need for new and more effective therapies to treat this disorder. In order to learn more about CDKL5 deficiency disorder, click here.
Spinal Fusion Surgery
Most doctors recommend spinal fusion surgery for any scoliosis patient with spinal curvature of 45 to 50 percent or more. To manage the scoliosis, Megan wears a spinal jacket, but the jacket cannot be used forever, as it causes excessive pressure on her gastronomy bag and irritates her skin. Her mother, Jane Christie, hopes that the procedure can improve her posture.
The spinal fusion operation involves realigning the curved vertebrae so that they heal together as one solid bone. Although it is an invasive procedure, the operation will at least free her of the spinal jacket, which will be a major quality of life improvement.
Moving Forward
While the surgery will mark another step in Megan’s life that will improve her overall condition, the family next hope to find a way to address her seizures. These seizures can be severe and even possibly fatal; the anticonvulsant medication that she currently uses appears to have little effect.
