When a Long Island toddler was first diagnosed with a rare illness, her family could never have predicted what it would lead to for her older sister.
Lisa Superina could tell her daughter Nora was not well from as early as 5 months old. All of her experience as a mother of five told her something wasn’t quite right.
“She was eating well but often seemed uncomfortable and she wasn’t gaining weight,” Superina told Newsweek. “She had frequent infections – respiratory and skin. Bad eczema. Her stools were excessive, loose and pale. She seemed very weak with bags under her eyes.”
Yet despite this, it took time for Superina to get answers. “Nora had genetic testing that all came back negative, so at that point I was told to wait and see what happens,” she said.
“That was not an option for me… I needed answers. She was my 4th child, so I knew that she wasn’t developing typically and something was very wrong.”
After pushing for more testing, Nora underwent genome sequencing. That was when it was discovered she had Shwachman–Diamond Syndrome (SDS), a rare, inherited bone marrow failure characterized by a low number of white blood cells, poor growth due to difficulty absorbing food, and, in some instances, skeletal abnormalities.
Children with SDS can develop blood disorders such as myelodysplastic syndrome (MDS) or leukemia. According to the Boston Children’s Hospital, nearly 5 percent of children with SDS develop leukemia, with that risk increasing to 25 percent by adulthood.
“This risk goes up with age, so every year gets a little scarier,” Superina said.
Nora was diagnosed in June 2021, when she was just 15 months old. The rare nature of her illness meant it was not on any doctors’ radars when she first began to exhibit symptoms.
There would be one more bombshell to come, though. “We were told to test our other children because sometimes SDS is exclusive to the blood and bone marrow and does not have many obvious symptoms,” Superina said.
A few months later, their worst fears were realized when it was confirmed that Nora’s older sister, Kayla, who was just 3 at the time, also had SDS.
Though it was a shock to hear, Superina felt some sense of relief that they finally knew about Nora’s condition and had uncovered Kayla’s before anything bad happened.
“I’m so grateful for their diagnosis because it gives us the tools we needed to help them and be proactive,” she said. “We know what we are up against.”
What they are up against is an illness with no known cure, only what Superina describes as “aggressive management.”
“Nora and Kayla have annual bone marrow biopsies to check for changes or mutations in the marrow that would suggest problems,” Superina said. “They get bloodwork every 3 months with hematology at the bone marrow/oncology clinic and see many specialists including hematology, gastroenterology, endocrinology, rheumatology, dermatology, ophthalmology, the list goes on…”
It’s an experience that has brought the sisters even closer together.
“Kayla and Nora have an amazing bond. They support each other for all their appointments… holding hands. Cheering each other on,” Superina said. “I definitely think it’s made them closer. They don’t ever have to go through anything alone- and they always have someone who truly understands.”
In the meantime, Superina has turned to social media, sharing her daughters’ story on Instagram under the handle rarelifemom in the hopes of spreading awareness about SDS and raising essential funds for researching treatments.
“I am in touch with top researchers and attended the recent SDS Congress in Cincinnati to learn about the research right now and have been spreading the word for funding a very exciting and promising gene editing project out of Boston Children’s with the SDS Registry,” she said.
“The problem is rare diseases like SDS don’t get the funding that more common ones do. So even if we know how to cure it, and have a treatment plan, the money just isn’t there. It’s often up to the parents and the rare disease community to fund their disease. So that’s what I’m trying to do. Raise awareness on social media and who knows, maybe someone with a big heart and a big wallet will see it and want to help my sweet girls.”
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