Metachromatic Leukodystrophy:
Experience of Jaiden Wood
Experience of Jaiden Wood
By: Kelly Paul (His mother)
I have taken the information from the MLD Foundation web-site which states that metachromatic leukodystophy can be broken down into three separate parts to decipher how they came up with MLD. Meta stands for change, chromatic stands for color, leuko stands for white matter, and dystrophy stands for degeneration. Therefore, it is the degeneration of the white matter of the brain and the peripheral nerves of the body. In addition, the white matter had a color of staining when seen under a microscope, but with the advent of the MRI, they can now see changes with the brain. Not only is MLD a neurological condition, it is also a lysosomal storage disorder which is metabolic in nature. The MLD Foundation states that there is a deficiency in the way a particular enzyme, which is called Arysulfatase-A (ARSA). With this lacking of the enzyme, sulfatides build up in the brain and peripheral nervous system and cause degeneration of the white matter of the brain. This causes a “miscommunication” between the brain and the rest of the body which in turn causes problems with getting the proper signal to the rest of the body (MLD Foundation http://mldfoundation.org/MLD-101-what.html).
This is where problems arise including no longer having the ability to walk, talk, eat, sit up on your own, and other problems. Based on general research, we have found that there is one person in 100 that is a carrier for the MLD gene. Depending on what part of the world you live in, there can either be a 1:40,000 or 1:100,000 chance of a child being born with the disease. Thus, it is considered a rare disease, but MLD is more common than most forms of leukodystrophies. There is a 1 in 4 chance that a child will get MLD in each pregnancy when both parents carry the gene. This would be considered an autosomal recessive gene. There are 3 different forms of MLD. The first one is late-infantile in which a child is diagnosed on average by age 2.5 years and dies by age 5. There are some known cases where these children live well beyond age 5. The second form is juvenile onset. They are diagnosed later than the first form of MLD. They are not as common as late-infantile. The third type of MLD is adult onset. The person is usually diagnosed later in adulthood but can be diagnosed in their late teens and still be diagnosed with the adult onset gene. There are other less common mutations other than the ones mentioned above. Jaiden has the most common.
Jaiden was diagnosed with late-infantile. Jaiden diagnosed with MLD November 2008. When Jaiden was born on April 6, 2006, he had all his ten fingers and toes. He was perfect in every way. For the first 2.5 years of his life, we did not suspect that he had any condition that would be terminal. He developed like a normal baby except he had a few minor issues, but these issues were like many other kids for his age. A few examples of this included having a lot of ear infections, vomiting, and strabismus. He had corrective eye surgery to correct the muscle that was causing his left eye to move outwards. We thought that was the end of our problems, but in July 2008, my family prompted us to see an orthopedic doctor. He never had a normal gait and would walk a bit funny. It got worse over time. The orthopedic doctor was not that worried and said that he would see Jaiden in 6 months. After waiting for about a month or two, we decided to take him to another specialist to see if that doctor could help us. This orthopedic doctor ordered an x-ray of Jaiden’s lower half of his body. There appeared to be nothing anatomically wrong with that x-ray. However, the doctor was worried when he saw how Jaiden was walking. He immediately referred us to a neurologist in the same hospital. We got an appointment to see the neurologist the week after that visit with the orthopedic doctor. When the neurologist looked Jaiden over, she suspected that Jaiden either had muscular dystrophy or spinal muscle atrophy, but those two possible diagnoses were ruled out when the blood work came back. Therefore, they did a whole slew of tests to see what else it could be. They finally narrowed it down to metachromatic leukodystrophy (MLD). Unfortunately, they were not that familiar with the disease. Therefore, we had to do some research on my own. I found a doctor in North Carolina, Dr.Esoclar, who is a specialist dealing with different forms of leukodystrophies, especially MLD. Jaiden was immediately scheduled to be seen by Dr. Escolar two weeks from the date we found out Jaiden was diagnosed. Dr. Escolar suspected Jaiden had MLD due to the final blood test results, but she wanted to confirm it again by doing another test where a urine sample is taken. There can be many false positives with it, and the lab has to be for sure it is not to get an accurate diagnosis of MLD. As mentioned above, there a child with MLD is lacking an enzyme that then creates sulfatides to build up in the white matter of the brain and peripheral nerves. Sulfatides are excreted in the urine and testing the urine is a good tool to determine if the child has does in fact have MLD. We also were tested to see what mutation we carry, and we were told that we were both carriers for one of the more common forms of MLD.
After Jaiden was diagnosed and seen by Dr. Escolar, Jaiden was started on Baclofen to treat his muscle spasticity. He was also seen by Alliance for Infants and Toddlers. They are an early intervention program funded by the state. So, it is free for families once the child has received a free assessment to see if the child is eligible for services such as physical therapy and occupational therapy. Jaiden received physical therapy, occupational therapy, and speech therapy. At this point, he still was able to get around with the aid of a walker and crawling. He was still able to eat and sit up on his own. After having a gastrostomy tube put in along with a Nissen fundoplication ( procedure done to prevent reflux), he started to lose more skills such as crawling and rolling over onto his stomach. At this point, he was still able to talk, but he stopped talking about 2 months after his procedure. Apparently, Dr. Escolar told us that MLD children can lose many skills after they have had any type of sedation. He attended preschool that summer, but was no longer able to get around. We took him out of preschool after August 2009, and we decided to keep him at home due to being medically fragile. Since then, he has received physical therapy and occupational therapy at home and has pretty much stayed the same except for a hospital visit last month when he had a major seizure episode. He was in the hospital for a week on a ventilator until he was able to breathe on his own. Based on his last MRI, he has had some more degeneration of the white matter of the brain, but he is pretty much the same.
He is now 4.5 years and is almost near the 5 year mark. We hope that he can live to at least his fifth birthday and beyond.
