Rare Disease Day: “We are here for them, but they need you to be here for them as well"

In Israel, approximately 50,000 children live with rare genetic diseases and syndromes, and thousands more are diagnosed each year. Nedirim, a non-profit organization founded by parents of children born with these rare and serious disorders, assists parents and families in dealing with the difficulties that they face, acting as a support network for 1,800 familes in Israel. Dealing with illness is difficult in any circumstance, and even more so when the disease is rare and largely unrecognized.

Dana Goldstein, who founded Nedirim in 2020 together with Natali Gespan Shpigner and Itai Weiss, explains that the organization is built on the belief that parents should not have to face these challenges alone. “One of the most difficult moments is when you receive a diagnosis of a rare disease, and you have no one to turn to. We had no one, and we had to search for information.”  Goldstein’s daughter was born with three extremely rare genetic diseases, and she is the only child in the world with this combination of illnesses.

Shpigner, whose daughter is one of four children in Israel with Jordan Syndrome, an ultra-rare genetic condition, explains that the Health Ministry defines a rare condition as one that occurs in once in ten thousand births. When parents receive a shattering diagnosis of a rare illness, she says, “there is the overwhelming sense of loneliness – the uncertainty, the lack of information, and the longing to share with someone who genuinely understands what weighs on our hearts.”

Nedirim serves as a home for families of children and adults with rare syndromes, providing information sharing, support, and guidance for children with rare syndromes and their families. It represents the community of families, engaging with government authorities, hospitals, nonprofits, and other organizations, advancing the rights of children with rare syndromes and children with undiagnosed disabilities.

“We offer many different services to families,” says Goldstein. “We have case managers who provide comprehensive support for families from the moment of diagnosis throughout the entire course of treatment; medical consultation to help explain diagnosis and treatment options; support groups for families, social workers, help in realizing and obtaining the rights available for families, and educational options for children. We want to provide as much support as possible, so that no family is left alone.”

To mark Rare Disease Day this February 28 and raise awareness for millions of people worldwide living with a rare disease, Nedirim has embarked on a fundraising campaing to enable it to provide additional services to the parents, children, and families which it serves, including providing augmentative and alternative communication methods (AAC) – tools and strategies that help parents and children with these diseases communicate when speech is difficult or not possible, recreational days for children and activities, and additional support groups throughout the country. The daily challenges are many, and it is essential that society recognize that families of those suffering from rare diseases need support.