When Parents of Children with Rare Diseases Become Researchers

When you’re told your child has a rare, life-threatening condition you exhaust every resource trying to find answers. But the rarer the condition, the harder those answers are to find and unfortunately, the more expensive they tend to be when you find them.

This is the story of Noam Baumatz and his wife, parents of a 2 and a half year old little girl named Noga. Noga has been diagnosed with Hoyeraal-Hreidarsson syndrome (HHS) which is an ultra-rare disease as well as Inflammatory bowel disease. Currently worldwide, only 20-30 people are diagnosed with HHS although Noam believes with proper testing this number would actually be much higher.

At the time of diagnosis, they were told Noga’s life expectancy would be between 3 and 10 years old. The only proposed treatment was a bone marrow transplant however Noga was not able to receive one because doctors believed she was to fragile to survive the surgery.

The family was at a loss of options. Until they discovered gene therapy.

Gene Therapy

Gene therapies were first developed in the 1990s. They work to replace the defective gene caused by a condition and ultimately, cure the patient of their disease. There have been many success stories from this type of therapy for conditions such as SCID and Sickle Cell Disease however in the grand scheme of things, its still in the early stages of development.

Dr. Noam Diamant believes he can develop a gene therapy to cure Noga.

Pharmaceutical companies have been slow-moving when it comes to gene therapy development for many rare conditions. It’s simply because these conditions affect a small population of patients and ultimately won’t provide the companies as much revenue. However, rare diseases as a whole affect millions of people worldwide.

Noga’s family is determined to not wait for a pharmaceutical company to conduct a trial for the type of gene therapy they need. They know they need a treatment fast. So instead they’ve set up an independent research team of geneticists including Dr. Diamant, who believe they can effectively treat Noga’s syndrome. The only problem is, this research will cost the family an estimated 500,000 dollars.

The Research

The research for Noga will be conducted in a Rehovot lab. The hope is that Noga will be administered with the one time therapy before the end of the year. As Noga approaches the age of three, she is entering the most critical period of the disease. Normally, approval for new drugs can take more than a decade; however, this family believes that this research will qualify as “compassionate use” by the Health Ministry. This designation would eliminate many of the restrictions that would slow down development.

The lab is first working to produce different versions of engineered viruses. These will initially be tested on stem cells taken from Noga’s blood. The most effective of these viruses will then be tested in mice. If they continue to show success there, the manipulated cells will be administered to Noga in a one-time therapy.

Her father says he plans to launch a global search for more children who may have the same condition. He predicts that the disease may be particularly under-diagnosed among the ultra-Orthodox and Ashkenazi Jew populations. The publicity the condition has gained due to Noga’s story has encouraged medical providers in Israel to include the gene in their genetic screenings. Approximately 1 in every 100 Ashenazi Jews could be carriers.

In the meantime

In the meantime, Noga’s family is taking extra precautions to ensure she doesn’t get sick. She doesn’t attend school, can’t play with other children, isn’t allowed to pet dogs, and isn’t able to play with her two sisters in the swimming pool. Even so, much of her short life has been spent in the hospital.

The family has set up a GoFundMe to fund their research. Noga’s father says that if the therapy is successful for his daughter, any other children they find with the syndrome will be treated with the gene therapy for free.

You can read more about this family’s story here.

To donate directly to Noga’s treatment visit their GoFundMe page here.

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