This Woman May Have Found a Treatment for Her Potentially Fatal Genetic Illness

According to a story from MIT Technology Review, it was 2011 when Sonia Vallabh received the results of a genetic test that showed that she had the genetic mutation responsible for fatal familial insomnia, an extremely rare disease that had claimed the life of her mother just a year before. Since that day, Sonia and her husband Eric have dedicated themselves to finding a cure or a treatment that could prevent this lethal illness from taking hold of her life.

About Fatal Familial Insomnia

Fatal familial insomnia is a heritable, extremely rare sleep disorder. The disorder is caused by a mutation of the prion gene, which causes the development of misfolded prion proteins in the brain. The primary symptom is insomnia, which is the inability to sleep. Symptoms arrive in stages. Initial insomnia results in phobias and panic attacks, progressing to hallucinations, rapid weight loss, and dementia. Treatment is supportive, and patients usually die about 18 months after symptoms begin. Disease presentation can vary widely from person to person. Common medications to facilitate sleep are ineffective, and can actually fatal familial insomnia to progress faster. So far, only 40 families in the world have been documented with the disease. To learn more about fatal familial insomnia, click here.

New Breakthroughs

After seven years of painstaking research, Sonia and Eric may have finally found a treatment that could prevent fatal familial insomnia. The drug would be able to curtail the buildup of prions in her brain, which could then prevent the disorder’s symptoms from appearing. From her research, Sonia concludes that reducing the buildup of prion proteins, which are toxic to neurons, is the best chance she has.

Race Against The Clock

The couple have partnered with a biotech company called Ionis, and they say that it is possible that the treatment could be viable in her lifetime, perhaps in the next five years. Still, there will be a degree of luck involved, as Sonia needs to get treated before any of her symptoms appear. The reality is that there is no way to predict when the symptoms of fatal familial insomnia occur, as they can begin at any age. While her chances are looking better than ever, preventing her disease will still take hard work and little bit of good fortune.

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