For his bar mitzvah May 4, Natanel Gold opted to ask for donations for research to possibly find a cure for a rare disease afflicting his sister Shaindy and other children.

A bar mitzvah is a coming-of-age ritual for Jewish boys when they turn 13, and the occasion can include a party with presents.

“I decided to do the fundraiser and not get gifts because my sister is very important to me and she’s more important than some gift. Gifts will last for a year but this money may last a lifetime,” said Natanel, whose family lives in Toco Hills in DeKalb County.

He was surprised when the donations, set up through the website fundrazr.com, came flooding in. As of May 24, Natanel had raised $78,101.

“It’s amazing because at the beginning I would have thought I would hit $10,000, $15,000 and possibly $20,000 if I’m lucky,” he said of the donations. “Now that I’ve raised over $75,000, it’s really amazing and means so much to me.”

Shaindy has Mucolipidosis Type IV, an inherited disorder characterized by delayed development and vision impairment that worsens over time, according to the National Institutes of Health’s website. It affects one in 40,000 individuals, and about 70% of those afflicted have Ashkenazi Jewish ancestry.

Shaindy, 11, is nearly blind and can’t walk or talk, said her father, Randy Gold.

“Doctors say kids with this disease never learn to walk, to talk (and) they have a mental development of about 18 months. … They go blind in their early teenage years and they have a shortened lifespan, (living to) young adulthood,” Randy said.

He is the board president of the Atlanta-based Mucolipidosis Type IV Foundation, also known as the ML4 Foundation, which is funding research for a gene therapy study at Harvard University to find a cure for the disease.

“Researchers have been studying this disease for more than 20 years,” Randy said. “And this gene therapy study has already produced incredibly positive results in mice affected with ML4 and we expect that we are very close to being able to use this gene therapy treatment in kids affected with the disease.

“In kids with Mucolipidosis Type IV there is one gene, the {span}MCOLN1 gene (also known as Mucolipid 1), that is affected, and gene therapy allows scientists to administer a corrected version of that gene that then replicates itself in the patient’s body. Gene therapy gives the opportunity to actually correct the affected gene in the child. We don’t know ultimately how the corrected gene will improve the specific diminished functions in patients, but we know it has significantly improved the physical abilities of mice in the gene therapy experiments at Harvard.”

Natanel is a seventh-grader at Atlanta Jewish Academy in Sandy Springs, and Shaindy is a student at Jacob’s Ladder, a Buckhead school for children with neurological disorders. Randy and his wife Caroline have a third child, Shai, 7, a first-grader at Atlanta Jewish. He said Shaindy needs help getting dressed, taking a bath and going to the bathroom but is more active than one might think.

“She doesn’t walk or talk, but she is very interactive and she understands everything going on around her,” Randy said. “So in the morning at the breakfast table, she loves to have oatmeal or pancakes and start her day just like my other kids. She loves to go to school and after working hard at school on different therapies, she has another two hours of therapy in the afternoons, whether it’s physical therapy or speech therapy or hippotherapy, a horseback riding therapy because it helps with her balance.

“Every day she has eight to 10 hours of therapy. She is basically the hardest worker I know. … She loves being around people. She loves music. And she has her own sounds she makes and her own sign language signs that have been adapted by her and her therapists so she can communicate things important to her. If you sit down with her, it’s very likely she’ll ask you to sing for her because she loves it when people sing for her.”

He said his family is delighted Natanel decided to hold the fundraiser.

“We’re incredibly proud of him for not just making the decision that he wanted to do something for his sister, but for recognizing that one person can make a difference in the world, and for … doing something on behalf of others in such as selfless way,” Randy said.

Natanel thanked all the donors and said he hopes the fundraiser pays off with finding a cure.

“To see my sister disease be cured or (the disease) be slowed down would be the most amazing thing that has ever happened to me or my family,” he said. “There’s no words to describe it.”

The fundraiser has no end date set yet. To make a donation, visit http://bit.ly/2YNpinY.

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