Finding the correct doctor for treatment can be difficult, especially if one has a rare disease. Because few doctors specialize in rare diseases, they are often spread across the world, which makes distance an issue for those seeking treatment. Jaxtien Miller, a 4-year-old from Payson, Illinois, has first-hand experience with this issue. He has metachromatic leukodystrophy, and the nearest specialist is in Pittsburgh, Pennsylvania, a ten hour drive away. Beyond the issue with finding the correct doctor, Jax’s insurance would not approve the out-of-state care for months, which is another issue that people often face when seeking treatment.
About Metachromatic Leukodystrophy
Metachromatic leukodystrophy belongs to the larger group leukodystrophy, which is a group of disorders that affect the central nervous system by causing issues with development or damage to the brain’s myelin sheath, which is the protective covering of the nerves. There are 52 types of these progressive disorders, and they are distinguished by the part of the myelin sheath they target. Metachromatic leukodystrophy is an autosomal recessive disorder, and it is characterized by the accumulation of sulfatides in the cells.
This accumulation causes destruction of white matter in the brain, spinal cord, and the connecting nerves to muscle and sensory cells of the periphery nervous system. This damage affects intellectual function and motor skills, such as the ability to walk. It also causes the loss of sensation in extremities, seizures, incontinence, paralysis, the loss of sight and sound, and the inability to speak. As the disease progresses, it causes people to become unresponsive, as they lose awareness of their surroundings. The most common form of this disorder is late infantile, meaning that it begins to present itself in the second year of life. This form affects 50-60% of those with metachromatic leukodystrophy. 20-30% of cases have the juvenile form, which presents itself between age four and adolescence. The progression of this type is slower. Only 15-20% of people have the adult form of this disorder, which appears during teenage years or later. This type often includes periods of stability and periods of rapid decline.
Metachromatic leukodystrophy is a rare disease, affecting one in every 40,000 to 160,000 people throughout the world. It is most common in specific isolated populations, such as Habbanites, the western portion of the Navajo nation, and among Arab groups in Israel. It is caused by a mutation on the ARSA gene, which creates the instructions for making the enzyme arylsulfatase. This enzyme is responsible for breaking down sulfatides. Without arylsulfatase, sulfatides accumulate and cause damage to the central nervous system. There are no cures for this disorder, and the damage done cannot be reversed, making early diagnosis and treatment very important. Treatment options include medication to reduce symptoms and pain, stem cell transplants to slow progression, physical, occupational, and speech therapy, and nutritional assistance.
Jax’s Story
Jax is four and lives in Payson, Illinois. At age three, his parents noticed that one of his eyes was crossing inwards. An eye doctor recommended wearing glasses for a few months to correct the issue, but after three months there was no improvement. Jax then went to SSM Health Cardinal Glennon Children’s Hospital in St. Louis in order to figure out what the problem was. After an MRI he was referred to a pediatric neurologist, who diagnosed Jax with metachromatic leukodystrophy in July.
After the diagnosis his parents tried to enter him into clinical trials for treatment, but he did not qualify for them. They enrolled him in physical therapy as well in an effort to keep his muscles strong. The next step was finding the correct doctor for Jax, and they had to do so quickly before the disease progressed. They found that UPMC Children’s Hospital of Pittsburgh was the best place for Jax to receive treatment and requested that their insurance cover the expenses there. Unfortunately their insurance company, MerdianHealth, denied their requests five times, saying that out-of-state coverage was not necessary.
In a race against time, these denials were very difficult for Jax and his family. Finally, the insurance company allowed Jax to go to Pittsburgh for treatment, where his family hopes he will receive a stem cell transplant with umbilical cord blood. He has gone through multiple tests in Pittsburgh after receiving clearance from MerdianHealth earlier in November, and his family hopes that he will be eligible for a transplant. After waiting for months, they are finally at the right hospital with the right doctors.
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