According to a story from derbytelegraph.co.uk, four year old Michal Myslicki, who was born with Batten disease, will soon get access to a critical treatment that will prolong his life. Mother Katarzyna cried tears of joy when she heard the news. The family has been doing all they can so that Michal can get access to the drug and he is just one of 40 known Batten disease patients in the country.
About Batten Disease
Batten disease is a nervous system disorder that tends to appear between the ages of five and ten years. This neurodegenerative disease is caused by mutations which affect the CLN3 gene. Girls tend to display symptoms later than boys, but their disease tends to progress more rapidly. Diagnosis is often difficult. Symptoms include seizures, vision problems, repetitive speech, learning regression or delays, scoliosis, decreased muscle and body fat, changes to personality and behavior, poor coordination, and speech loss. Symptoms generally progress over time. There is only one drug for Batten disease that can slow progression, but it is only effective in certain cases. Most treatment is supportive, and the disease is ultimately lethal. There is a dire need for more effective therapies to improve survival times and outcomes for patients with Batten disease. To learn more about Batten disease, click here.
Michal appeared to be growing normally when he suddenly began having seizures last year. When he was diagnosed the family feared that the boy would only survive for a couple more years, but with treatment he should be able to stay alive for decades. The disease has already had a serious impact on Michal’s life and he can’t walk very far without assistance; his speaking ability has suffered declines as well.
The drug, which is called cerliponase alfa, was only made available for coverage on NHS England recently with an agreement made with Biomarin, who currently manufactures the treatment. While Michael will see the progression of his illness curtailed significantly, the family can only hope in the meantime that a newer, more effective treatment will be developed that can halt or reverse the progression of Batten disease entirely.