According to a story from CBS Philly, Jackson Guernsey, who is just two years old, was diagnosed with rare leukodystrophy just six months ago. While the disease has been taking its toll, the youngster has been handling himself with a positive attitude. Recently, thanks to the Make-a-Wish Foundation, Jackson paid a visit to Hidden Valley Farms.
Leukodystrophy is a group of genetic disorders which are most characterized by the degeneration of the brain’s white matter. There are a number of genetic mutations that can cause the disease to develop, and all of them prevent the normal generation and development of the myelin sheath in the central nervous system, an insulating, protective cover that insulates nerve cells and are critical for their regular functioning. Symptoms and signs include a backwards bent head, abnormal sensitivity and irritability, muscle stiffness and spasticity, epilepsy, hearing and vision loss, ataxia, and loss of mental function. Without treatment, patients ultimately enter a vegetative state before dying. Treatment often focuses on relieving symptoms, but stem cell transplant and gene therapy can be useful if conducted early in the course of the disease. The is no known cure for leukodystrophy. To learn more about leukodystrophy, click here.
The first sign that Jackson’s parents knew that something was seriously wrong was when the boy woke up one day and was unable to stand. It was an unbelievable shock when the couple was told that Jackson had leukodystrophy. The story is an awful case of bad luck as both of Jackson’s parents, while unaffected by the condition, were carriers of the mutation that could cause it.
Jackson Guerney has an uncertain future, and his family doesn’t really know at what pace his disease will progress. Nevertheless, the visit to Hidden Valley Farms was a day in which such dire concerns were best forgotten. The Guerney family got to observe with gratitude as Jackson was able to pet and see his favorite animal: horses. For that day at least, Jackson just seemed like any other two year old.