Rare Genetic Disorder 'Batten Disease' Affects 3 in 100,000
Seizures Occur, Cognitive and Behavioral Decline Observed
A young girl suffering from a rare hereditary disease that causes her to lose the ability to walk and speak needs treatment costing over 200 million won every two weeks.
The story of Emma Austin (7), who suffers from the rare genetic disorder Batten disease, has been shared. [Image source=Captured from the UK Daily Mail]
On the 11th (local time), the US media outlet People shared the story of Emma Austin (7), who is suffering from Batten Disease. Emma showed no signs or symptoms of any problems until she was over two years old. She seemed to be developing well in terms of crawling, walking, and speaking. However, when she was two and a half years old, she began having difficulty putting on shoes and using a spoon. From the age of four, Emma started experiencing seizures and her motor skills declined. Emma's mother, Kristy Austin, said, "I was so shocked when I first heard the diagnosis. When I looked it up, I found that there were no survivors at all," and explained, "The child is gradually losing the ability to speak, walk, and even swallow food." Kristy added, "Her cognitive abilities are deteriorating, and brain cells are disappearing. They call it infantile dementia."
Batten Disease, which Emma is suffering from, is also known as Neuronal Ceroid Lipofuscinosis. There are 13 types in total, and it is a rare disease that mainly occurs between infancy and childhood. Batten Disease is known to manifest when both parents carry mutations in the ceroid lipofuscinosis neuronal protein (CLN) gene. It is estimated that about 3 out of every 100,000 babies born in the United States have Batten Disease.
The CLN gene is responsible for lysosomes. Lysosomes are the parts of cells that break down waste, fats, proteins, and other substances accumulated in the cell. When mutations occur in the CLN gene, lysosomal function is impaired, and undegraded substances accumulate in the cells. This phenomenon occurs first in nerve cells, leading to the development of Batten Disease, a type of degenerative neurological disorder.
Those with Batten Disease develop more slowly than their peers, experience gradual vision loss, and show delayed cognitive and behavioral development. They may also have seizures, which become more frequent as the disease progresses. Brain function declines, and symptoms such as stuttering may appear. The progression speed varies depending on the type of Batten Disease, but the earlier symptoms appear, the shorter the life expectancy. When diagnosed in childhood, survival beyond 5 to 6 years is generally difficult, while those with symptoms appearing around age 10 may live into their early 20s.
Kristy continued, "Although it is not a cure, Emma is receiving treatment with Brineura." Brineura treatment is administered into the brain ventricles every two weeks. The problem is that this treatment is known as one of the most expensive drugs in the world. Kristy said, "We have to pay $172,000 (about 230 million won) every two weeks for treatment," and she is raising funds for Emma's treatment. This drug can only be administered if there are no acute complications such as scalp swelling or rash. Also, while Brineura can slow muscle degeneration, it is known to have limitations in alleviating other symptoms.
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