Rare genetic diseases captured in painful and inspiring online art exhibition
With February 29 marking International Rare Diseases Day, Israeli researchers launch a website providing families of diagnosed kids with crucial information and resources
Renee Ghert-Zand is the health reporter and a feature writer for The Times of Israel.
When Hadar Zysman was a baby, her development was typical for the first year and a half. She met milestones later than her three older siblings, but her parents just figured she was a “late bloomer.”
But then as she approached age two, she started to noticeably regress.
“It wasn’t a sharp regression, but I felt there was something not right going on. We went to a couple of doctors who either dismissed it or did not know what was going on,” said her mother Lilit.
The child underwent seven months of tests, yet no medical professional in Israel could diagnose her. It was only when an expert on rare genetic diseases from Johns Hopkins University in the US came to Israel for a conference at the Weizmann Institute of Science in the late 1990s that her parents finally got an answer.
“He was told the details of Hadar’s situation and he said it was absolutely Rett syndrome,” her mother said.
Rett syndrome is one of many rare genetic diseases that a collaboration between Bar-Ilan University’s faculty of life sciences and the Weizmann Institute’s David and Fela Shapell Family Center for Genetic Disorders Research want to bring to the public’s attention on February 29, International Rare Diseases Day.
Marked and promoted by rare disease organizations worldwide, its primary purpose is to raise awareness and funds for research toward cures.
Thanks to major advances in DNA sequencing and genetic research, the underlying reason for many of these diseases is known and diagnoses can be made. At this point, the focus is on advancing expensive scientific investigation to discover and develop drugs and other therapies and bring them to the clinical trial stage.
In Israel, a team of researchers want to get the word out about a relatively new online resource for the parents and guardians of children who suffer from rare diseases. The website (Hebrew only) is a joint project of Dr. Einat Zalckvar of Bar-Ilan University and Prof. Ayelet Erez and Prof. Maya Schuldiner from the Weizmann Institute.
A related series of artworks inspired by some of the 28 diseases currently on the website and shared on social media is intended to draw further attention. The drawings, paintings, mixed-media pieces, and sculptures were made by professional artists, save for one made by Zysman, now 27. Cognitively capable but locked inside a “frozen” body, she communicates and creates art using technology directed by her eye gaze.
“She’s very much alive inside a dead body. You can see the life and power in her eyes,” her mother said.
Zalckvar, Erez, and Schuldiner created the open-source website to provide parents with accurate information on rare genetic diseases, and the names of doctors in Israel who treat them and scientists who research them. The website also lists organizations that families can turn to for support.
“A family with a child that receives a diagnosis feels so lonely. These organizations and the people who run them are tremendous and we must help link families with them,” Zalckvar said.
An estimated 300 million people are living with rare diseases globally. A rare disease is considered one that appears with a frequency of less than 1 per 2,000-2,500 births (depending on the country or region). Rare diseases with no known cure are sometimes called “orphan diseases.”
Most rare diseases are hereditary, but some like Rett syndrome are de novo, spontaneously caused by a mutation to one or more genes during a fetus’s development.
In Israel there are approximately 500,000 people suffering from rare diseases, researchers say. The number is high relative to the population because of the historical in-marriage in the Ashkenazi Jewish, Druze, Bedouin, and Arab communities.
“Some of this in-marriage is still happening, with some villages having one in five people with a genetic disease,” Zalckvar said.
With the prevalence so high in Israel, diseases like Tay-Sachs and cystic fibrosis, which are considered rare globally, are considered relatively common here.
Zalckvar expressed frustration about the government not following international definitions when it comes to rare genetic diseases. She also said the Health Ministry has so far refused to publish statistics reported to it by geneticists, leaving clinicians and researchers to piece the overall picture in Israel together themselves.
“It is so important to establish the numbers because that helps us convince drug companies to conduct trials here in Israel,” she said.
“Furthermore, studying rare diseases gives us amazing insights into biology and physiology that can help us better understand and treat more common diseases,” she added.
Zalckvar praised the committee that presented the Health Ministry last week with its recommendations for the 2024 health basket. If the recommendations are approved, genetic testing would be available for all citizens beginning September 1, and the age for amniocentesis for pregnant women would be lowered from 35 to 32.
When Zysman was diagnosed with Rett syndrome, there was nowhere for her parents to go to in Israel for information and help. Her mother went to Johns Hopkins and hospitals in Switzerland to learn from experts. She and her husband subsequently established a nonprofit organization in 2001 to raise awareness and fundraise toward a cure for affected Israelis.
“Now there is a national Rett clinic at Sheba Medical Center and clinics for other rare genetic diseases at various hospitals around the country,” Lilit Zysman said.
She and her husband went before the Supreme Court to argue their case that EyeGaze, the eye-driven communication system their daughter uses, should be included in the basket of state-funded health services. They won, and the technology has been available free of charge since 2009.
“Hadar was 14 when we discovered this technology. It has made such a difference. She has language but no speech, and it allows her to express herself and study,” her mother said.
“She told us she wanted to go to university, so now she is in a special program at Bar-Ilan University and is part of the student body, just like everyone else.”
