Kirsty Austin said that her daughter Emma grew up a healthy and cheerful girl. The diagnosis of “Batten disease” came as a complete surprise to the family.
Batten disease is a rare, fatal, recessively inherited neurodegenerative disorder that begins in childhood. It causes epilepsy, severe visual impairment, intellectual and motor impairment. The disease is caused by abnormal accumulation of lipopigment in the brain.
When Emma was 2.5 years old, her mother began to worry that something was wrong. According to the woman, she became alarmed when the child began to have difficulty putting on shoes and using familiar objects. There had been no problems with this before.
Doctors said that the girl was fine.
Six months later, Emma had an epileptic seizure on the way to preschool.
A series of genetic tests revealed a rare disorder that occurs once in 200,000 — Batten disease CLN2, a form of childhood dementia.
With this disorder, children gradually lose the ability to speak, walk, see and swallow. Survival is about five years after symptoms appear.
—We had no problems, no signs, nothing. Then Emma developed a speech delay, and then a slight motor delay. Over the course of six months, her condition gradually worsened, and my maternal instinct told me that something was wrong, the mother said.
The girl gradually lost the ability to use the potty, she began to have sleep disorders and sudden fits of rage.
After the attack, Emma was diagnosed with Batten disease. Her body lacks the TPP1 gene, which is necessary for the production of an enzyme that removes toxins from the brain and spinal cord.
This leads to a gradual build-up of waste products in cells, as seen in some Alzheimer's patients. Now the child is given a special drug to slow down the disease.
Symptoms of Batten disease:
- loss of vision,
- mental disorder or weakness of mental functions,
- uncoordinated muscle work,
- emotional disorders,
- muscle spasms,
- convulsions,
- decreased muscle tone,
- impaired motor activity.
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Important! Information is provided for reference purposes. Ask a specialist about contraindications and side effects and do not self-medicate under any circumstances. At the first signs of illness, consult a doctor.