Today was the day my beautiful baby boy, Anthony James DiMaria came into my world. It was March 1 st 2001 and I was thirty-eight weeks into my pregnancy. I had a normal pregnancy. Anthony was born a little after 10:30pm weighting 6lbs8oz and 18 inches long. He was so tiny and so perfect. I could not believe he was mine. I was determined to be a great mom and had so many plans for his future.

Just about the time when Anthony turned one I mentioned to the pediatricians that I felt something was wrong. Anthony was late to sit and crawl it worried me. They told me not to worry because boys tend to develop slower and also Anthony was a very chunky baby. A few months had gone by and Anthony was crawling all over the place, but I still had a gut feeling something was wrong. We went to see a neurologist who examined Anthony and did an MRI on him. Everything came back fine and I was told to have another baby. He told me Anthony was held too much and he had “pretty baby syndrome” and if I had another baby I would not be so neurotic with Anthony. Needless to say when I left his office I was furious. A friend of mine who is a nurse suggested I see another neurologist, so I did. The new neurologist could not find anything either, but did want to follow up on Anthony in a few months...

Anthony had already started physical and occupational therapy services a few times a week. He was almost sixteen months and he was not showing any signs of walking. We went back to the doctors who could only diagnose him as being developmentally delayed. I was okay with this; I could accept that my son was a slow developer.

When Anthony was about twenty-six months he started to walk. We were all so excited. He had a walk like “Frankenstein” very stiff, but he was walking. Everyone told me it was just a matter of weeks before he will be running. Well it wasn't. This went on for almost five months then he stopped. He would no longer walk or even try. This is when the testing begins. First they thought a form of cerebral palsy then a mitochondrial disease. Leukodystrophy was never mentioned.

Just after his third birthday, Anthony was in the hospital for another MRI and a twenty-four hour EEG. The EEG came back slightly abnormal, but the MRI was what scared us all. Anthony as a cyst in the back of his brain. We were sent over to All Children's Hospital in Saint Petersburg . They were going to put a shunt in to drain the cyst. I thought this had to be causing all his problems and now the doctors could fix it. That wasn't the case, the radiologist and doctors at all children's hospital said the cyst was not causing any pressure on the brain so there was no reason to put a shunt in. they also noticed that some of the white matter in his brain was gone. They mentioned Leukodystrophy, but did not say for sure. Before we were discharged they took as much blood and urine as they could.

It was in April of 2004, that the results were back and Anthony was diagnosed with Metachromatic Leukodysrtophy. Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies . These are diseases that impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. MLD is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of MLD: late infantile, juvenile, and adult. In the late infantile form, which are the most common, affected children have difficulty walking after the first year of life. Symptoms include hypotonia (low muscle tone), speech abnormalities and loss of mental abilities, blindness, rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia. Children with this form of MLD become bedridden, blind, and enter a vegetative state. They usually die in the first decade. Those with the juvenile form (between 3-10 years of age) usually begin with emotional disturbances and dementia and then develop symptoms similar to the infantile form but with slower progression. In the adult form, MLD commonly begins around age 30 as a psychiatric disorder or progressive dementia. The illness runs a long course, usually averaging 15 years. My world has just been shattered. All I heard was that there was no cure and my son was going to die…when we don't know.