Toddler with rare genetic disease, whose family raced to find a cure, dies

Noga Baumatz, the Israeli toddler whose family had launched a campaign to develop a gene therapy to treat her rare disease, has died at the age of 2, her family announced on Saturday.

“Yesterday evening, Noga’s amazing soul left her body. After a week-long battle in intensive care she decided it was time to pass on,” they said in a statement.

“We are broken and stunned by the death of our little warrior and wish to thank all of you, for walking with us through this hard time and offering your support.”

Baumatz was one of 20-30 people on earth to be diagnosed with Hoyeraal-Hreidarsson syndrome, an ultra-rare and fatal immunodeficiency disorder, which is characterized by bone marrow failure and a predisposition to cancer.

The Baumatz family — along with a geneticist friend, Dr. Noam Diamant — had been raising money for a treatment, and had opened a lab in Rehovot aimed at producing a gene therapy tailor-made for the toddler, to rectify the mutation of the RTEL1 gene, which preserves the length of the chromosome-protecting telemores.

It was a process they had hoped would take a year.

Baumatz is survived by her parents and two sisters.

She will be buried on Sunday in Karmei Yosef in central Israel.