Rare Diseases day takes place worldwide to raise awareness among policymakers and the public about rare diseases, the people they affect, scientific challenges, and research for new treatments. On the occasion of International Rare Diseases Day, two preschool children from the Chimes Israel family, Negev Loftus and Noam Markowitz, were featured in the Israeli news as children dealing with rare and incurable syndromes.
Negev Loftus, age three, who goes to Chimes Israel’s Or Early Childhood Center in Modi’in Maccabim-Reut, is the only person in Israel and is among the 105 patients worldwide with Hao-Fountain syndrome (HAFOUS). This significant neurological disorder causes developmental delay, cognitive disabilities, autism., and impaired speech or inability to speak.
According to his mother, Gal Loftus, “Right from the start he was hospitalized for respiratory problems, even then they saw on his facial features that there was a genetic problem. At the age of seven months, we got a diagnosis. It’s amazing because if I had given birth to him two years prior, there would have been no diagnosis. In fact, they knew how to say the name of the disease, but they had no idea what it meant.”
“Negev is a kind of world wonder,” Gal explained to Mako. “It is not clear to me how he survives. He underwent CPR at home and stopped breathing many times. I felt he came into the world to stay in it. For me, since the day he was born, I have become a thousand times stronger. I do not care about a lot of things that bothered me before. I feel more confident and much more successful in what I do. “
Also at Chimes Israel’s Or Center in Modi’in Maccabim-Reut is two-year-old Noam Markowitz, who has Lesch-Nyhan syndrome (LNS). LNS is a rare, inherited disorder caused by an enzyme deficiency when a mother carries a recessive gene and passes it onto her son. Noam is the only person in Israel with LNS and there are about 100 patients worldwide.
Symptoms include severe kidney problems, poor muscle control, and moderate cognitive disabilities, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin at age two. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs.
“Noam is imprisoned in a body that is not functioning. He knows what he wants and what he needs to do, but he is not successful. He talks to us with his smart eyes,” his mother Liat Markowitz explained to Mako. “He feels an inexplicable need to bite himself to the point of injury. It reaches a level where he literally asks me to put his gloves on, even though he knows he will not be able to function with his hands at all.”
Liat said that while there is no known cure right now, their doctor told her there is a real chance of a genetic cure. “As soon as I heard that, I went to war, on a journey to find the cure.” After a yearlong journey of connecting with doctors all over the world, she found a researcher who had been working for several years on a genetic cure for the syndrome.
“Noam changed my world and my whole perception of the essence of life,” said Liat. “There are moments when I think to myself, what is this life worth with so much suffering? At the same time, Noam’s strengths and his melting smile, despite all the difficulties, give me strength to fight. If he can, then surely I can with him and for him. His wisdom, his smile, his love make me realize that I will not stop until I find a cure for him. “
