Leukodystrophy and our special child....

My son, Patrick, was diagnosed with Leukodystrophy at nine months old. We had taken him for his 9 Month wellness check-up, when the pediatrician had become extremely worried about the large size of Patrick's head. The pediatrician immediately wanted me to have him checked by a nuerologist. At first, they thought he had fluid on his brain, but after a rigorous set of MRI's, they found that he did not have fluid on his brain, but that he had Leukodystrophy. When they first diagnosed Patrick with Leukodystrophy, they informed me that my son only had no more than 6 months to live. They told me that most children do not make it past age 1. There are 34 different types of Leukodystrophy. None of which can be cured, only maintained. Scott and I were devastated. This really hit Scott hard, because he had lost his mom to brain cancer a few years before. We did not know what to do, say, or think. All that we kept thinking was how could God be so cruel? How could he give us this beautiful child, after so many years of trying, and then just take him away? Scott and I did the only thing we could do, try to save our child. Patrick went through "hell" that year. He had blood test, after blood test, and scan after scan. The problem was that Patrick had no visible symptoms of the disorder, except for what the MRI scans showed. All the bloodwork came back normal. The doctors were baffled, until recently. After years of researching my son's case overseas in England, by the number 1 doctor in the world for Leukodystrophy, and recent evaluations and blood work here in the states, they have finally come to an understanding of what is going on with him. Patrick was officially diagnosed with a specific strand of Leukodystrophy, Alexander's Disease.

Here are some of the facts about Alexander's Disease:
What are the symptoms of Alexander Disease?

Symptoms vary between the three forms of the disease (infantile, juvenile, and adult-onset), so we have separated them into categories below. However, it should be noted that there is no sharp line that can be drawn between the different forms of these disorders, and within each form the symptoms and severity can vary dramatically.
Infantile Alexander Disease leads to symptoms in the first two years of life; while some children die in the first year of life, a larger number live to be 5-10 years old. The usual course of the disease is progressive, leading to eventual severe mental retardation and spastic quadriparesis (spasms that may involve all four limbs). However, in some children the degree of disability develops slowly over several years, and some children retain responsiveness and emotional contact until near the end of their lives. Feeding often becomes a problem, and assisted feeding (as with a nasogastric tube) may become necessary. Their head circumference is often enlarged. Children with hydrocephalus caused by Alexander disease usually have increased intracranial pressure and a more rapid progression of the disease. Generally, the earlier the age of onset of Alexander disease, the more severe and rapid the course.
Below is a list of the clinical terms of some of the symptoms and pathologies of Infantile Alexander Disease, along with definitions of each term. Please keep in mind that severity and symptoms will vary, and so all children will not have all symptoms.

Megalencephaly: Megalencephaly means that the brain is abnormally large; this can be associated with delayed development, convulsive disorders, corticospinal (brain cortex and spinal cord) dysfunction, and seizures.
Hydrocephaly: Literally means "water on the brain." Characterized by the accumulation of fluid in the brain or between the brain and the skull. Can cause pressure on the brain, resulting in developmental defects. Also can lead to an abnormally large head size (to greater than 90% of normal).

Failure to thrive: A general term meaning the the child is not growing and gaining weight at the expected rate.

Seizures: The brain controls how the body moves by sending electrical signals. Seizures (also called convulsions) occur when the normal signals from the brain are changed. Severity of a seizure can vary dramatically. Some people may only shake slightly and do not lose consciousness. Other people may become unconscious and have violent shaking of the entire body.

Spasticity/spastic quadriparesis: This means that the child tends to suffer spasms, or involuntary contractions of muscles. Muscles are abnormally stiff and movement is restricted. Quadriparesis means that all four limbs are involved.

Progressive Psychomotor Retardation: This can include difficulties with walking, speech difficulties, and mental regression. Eventually this can lead to loss of all meaningful contact with the environment. Progressive means that the condition worsens as time goes on.

What is the treatment for Alexander Disease?
There is no cure for Alexander Disease. The treatment for Alexander disease is symptomatic and supportive. Hydrocephaly (water on the brain) may be partially relieved by surgery, in which a shunt can drain away some of the fluid causing the pressure. Bone marrow transplantation was performed on one child, but did not produce improvement.

As you can see, it is a miracle that I have had 4 1/2 years of time with my son. We are taking each day as a blessing. I do however, want to get the word out there about Leukodystropy. When Patrick was first diagnosed, I had never even heard of the disorder. However, in recent years, there has been a rise and it is becoming more frequent that children, juvenille's and even adults are being diagnosed with Leukodystrophy.


To sponsor the Leukodystrophy foundation please follow this link.
Any little bit can help to find a possible cure.








Thank you,
~~~The Hudyma's~~