My family knew something was wrong from the start because I was not focusing on faces and I was "Floppy". In Dec 2010 I had a 2 1/2 HOUR seizure and I was medflighted to DHMC. An MRI showed something was very wrong. My neuro Dr barely uttered Leukodystrophy. Dr called an expert on his lunchbreak and made a appt for me to be seen that week. Mommy started doing research to see what leukodystrophy wa
s. This could NOT be what the Dr said. We saw Dr Filiano who confirmed that is what was said! My family was numb! I went through 1 1/2 yrs of type testing and on 4/24/2012 I was diagnosed with Alexanders Disease. No treatment, no cure... I have been through more already than most will go through in their entire life! I have epilepsy, a global developmental delay, cerebral palsy, very low muscle tone, difficulty swallowing, acid reflux, a G-tube, addenoids were removed, I get botox injections for tight heel cords, I do not sleep through the night, I cant walk and I cant talk. I am on MANY meds. The common cold can earn me an admission to the hospital... BUT I am a very happy little girl and I am very brave. Everyone who has met me has fallen in LOVE with me:) Welcome to my page and thank you for all of your support and prayers! For those of you who do not know what Alexanders disease is... This came from NINDS(National Institute Of Neurological Disorders and Stroke)
Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Many have asked for Lexy's Address to send her cards
