Over four years ago, in December of 2015, we published the incredible story of Eli Dworcan, the son of Yossi and Sarah (Lipskar) Dworcan, entitled “Sweet as Maple Syrup.”
At the time, Eli was an adorable eight- month-old baby who was diagnosed with maple syrup urine disease, or MSUD, shortly after birth. Sarah explained how this rare disease was diagnosed through incredible hashgachah pratis and how she was coping with Eli’s special diet.
Maple syrup urine disease is diagnosed with the newborn blood spot, or heel-prick test. It is a metabolic disorder, an inborn error of metabolism that prevents the body from digesting certain essential proteins (branch chain amino acids) and causes toxicity to the body and brain.
In the ensuing years, we have often wondered about Eli, who is now almost five years old. The Dworcans had been very active in founding an organization whose purpose was both to educate the frum community about the importance of comprehensive genetic testing and to provide a support group for parents whose children had MSUD or other rare disorders. Was the organization still running? And most importantly, had a cure been found?
Shortly before Pesach, with the world in isolation due to COVID-19, we caught up with the Dworcans, who told us that this is old hat for them—their son has been in isolation for the past eight months.
Sarah, who is originally from Johannesburg and is now living in Palm Beach, Florida, with her husband and son, brought us up to date about Eli, a beautiful child with deep, soulful eyes and a maturity beyond his years.
Because it has been a while since the article was published, we will recap some of the details of the diagnosis he received when he was just a few days old.
Sarah recalled, “Before we were engaged, my husband and I checked our Dor Yeshorim numbers and were told that we weren’t carriers for genetic diseases. We didn’t dream that we could ever be affected by one. We were to learn the painful way that maple syrup disease isn’t part of the standard tests for genetic diseases. We were informed later on that we are both carriers of the Ashkenazi recessive mutation that causes MSUD.
“After several years of waiting, we received the great news that we would be blessed with a baby. The pregnancy was normal, and despite my persistent unease, the routine scans showed a healthy baby. In utero, our son was completely healthy since my body was filtering his blood and breaking down the protein for him.
“Our precious firstborn, Eliyahu Tuvia, was born on 4 Iyar, April 23, 2015, in Jacksonville, Florida, after a relatively easy labor and delivery. He was a healthy weight, seemed alert and responsive, and was declared in excellent health.
“The problems began after a day or so. The baby seemed to have a high-pitched cry, and his head had a strange, sweet smell. He cried around the clock and seemed hungry or in pain all day. In reality, my milk was poisoning him as his body could not break down the protein he was receiving.
“As the days passed, the baby hardly slept and was eating a lot less. Every time I tried to feed him, he would flail his arms and legs in a perfect circular motion, as if he had cramps, and turn his head away. It was almost as if he were fighting me. We became more and more concerned.
“On the morning before his bris, the baby turned blue, vomited blood and was rushed to the hospital. The doctors assumed he had swallowed blood from me, which nauseated him and caused him to vomit. They were unconcerned and sent him home. Still, we knew something was wrong.
