Lihi is 3 ½ years old, sweet, friendly, and playful.
She was diagnosed with a rare genetic mutation called IRF2BPL Disorder, also known as NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) and its related – and still nameless – diseases have been discovered in children anywhere between ages 1 and 10. Children with this terrible disease essentially become immobile and trapped in their bodies by the age of 12.
To date only 30 known cases have been recorded worldwide. The genetic marker of the disorder was only discovered recently, and misdiagnosis is still common due to the unfamiliarity of this condition. As testing for this ultra-rare disorder is becoming more widespread, we expect to see an increase in the number of cases develop.
What is being done to help?
Currently, the Undiagnosed Diseases Network (UDN) at Harvard and National Institute of Health (NIH) are conducting research on decoding the gene and its mechanism at the Texas Children’s Hospital and Nationwide Children’s Hospital. Both are world-leading research institutions in the field of neurological and muscular disorders and diseases.
Taking action for Lihi at TAU
With little time to spare, Lihi’s parents are partnering with Dr. Miguel Weil, a specialist in neurodegenerative disorders and personalized medicine at Tel Aviv University, to support and complement the work of Texas and Nationwide hospitals. Using High-Throughput Screening (HTS), a cutting-edge drug discovery process, Dr. Weil will test the efficacy of existing drugs on the disorder. HTS involves machine learning techniques, which should translate into large sets of valuable data in a relatively short span of time. If successful, this could save not only Lihi, but other children who suffer from this rare illness.
How can you help?