March 10, 2025
When Lisa Superina’s daughter, Nora, started showing signs of illness at just five months old, she knew something wasn’t right. But like so many families navigating rare diseases, the journey to a diagnosis wasn’t straightforward. It took persistence, second opinions and cutting-edge genomic testing to finally uncover the truth—Nora had Shwachman-Diamond Syndrome (SDS), a rare genetic disorder that affects the bone marrow, pancreas and skeletal system.
The Diagnostic Odyssey: Pushing for More
By 12 months, Nora’s symptoms worsened, and she spent considerable time in the ER. Elevated liver enzymes led to a referral to a GI specialist, and a Zoom consultation with a geneticist eventually provided answers—her diagnosis was confirmed at 15 months.
The initial whole exome sequencing (WES) came back negative, leaving Lisa frustrated and worried. But she refused to accept uncertainty. Trusting her instincts, she pushed for more testing, and eventually, the geneticist agreed to whole genome sequencing (WGS). Unlike WES, WGS examines the entire DNA sequence, capturing genetic variants that may otherwise be missed.
The results were life-changing. A few months later, Lisa received the call that confirmed what she had suspected all along—Nora had Shwachman-Diamond Syndrome.
A Diagnosis That Changed Everything
For many, receiving a diagnosis for a rare disease is bittersweet—frightening but also a relief. “Without a diagnosis, I wouldn’t have known how to help her,” Lisa recalls. “I truly feared for her life.”
SDS is a serious condition, affecting multiple organs and increasing the risk of bone marrow failure or leukemia. But the diagnosis allowed Lisa and her family to take proactive steps to manage Nora’s health. Regular monitoring, dietary adjustments and medication (Creon) for pancreatic insufficiency became essential parts of daily life.
Then, another revelation: Nora’s older sister, Kayla, also tested positive for SDS—despite showing no symptoms. The knowledge gained from Nora’s journey meant that Kayla could receive the care she needed before serious complications arose.
The Strength of a Rare Disease Family
Lisa’s story isn’t just about her children’s diagnosis—it’s about resilience. With two daughters facing a rare genetic condition, she found strength she never knew she had.
“I used to stress about trivial things—school, homework, Girl Scouts. Now, I embrace those small problems because they mean my children are healthy enough to have them. Every single day that they are happy and active is a gift.”
Lisa’s son, Danny, is also part of their journey. He is a bone marrow match for both of his sisters and could one day provide a life-saving transplant if necessary.
A Message for Other Parents: Never Stop Pushing for Answers
Rare disease parents often become the biggest advocates for their children’s health, sometimes even knowing more than the doctors treating them. Lisa learned firsthand how critical it is to ask questions, challenge assumptions and seek second opinions when something doesn’t feel right.
“If I had just trusted the doctors completely, I wouldn’t have a diagnosis today,” she says. “Parents need to trust their instincts. If your gut is telling you that something is wrong, push for more testing. Keep asking until you get the answers your child needs.”
Her advice to other families facing a diagnostic journey? There is power in a diagnosis. A name for the condition means a treatment plan, a support system and a path forward.
Find out more about Lisa’s family and fundraiser here: Fundraise Your Way 2024-2025: RareLifeMom – Boston Children’s Hospital
