A young dancer from Minnesota thrives with a rare blood disorder, thanks to resilience, family advocacy, and lifesaving lab medicine.
At just 9 years old, Isabel Dabrowski displays boundless energy, an infectious smile, and an intense passion for dance. To her parents, Carly and Taylor Dabrowski, she’s “Isabel the Incredible” — a nickname that captures not only her vivacious spirit but also her extraordinary resilience in the face of a challenging diagnosis.
Isabel was born seemingly healthy, but within moments, her parents sensed something was wrong. “Her Apgar score was really bad. Her coloring, her breathing, things were just off,” recalls Carly.
What followed was a whirlwind: a week in the neonatal intensive care unit (NICU), countless tests, and a series of medical ambiguities that were deemed idiopathic. For the first 10 months of her life, Isabel’s health seemed to stabilize, but just before her first Christmas, she became alarmingly ill.
“She was very pale, wanted to nap all the time, and just didn’t look like herself,” Carly remembers. A telltale rash and parent’s intuition led to an emergency room visit that would set off a diagnostic odyssey.
After a stressful period of uncertainty, recurrent hospital visits, and ongoing bloodwork, a specialized laboratory test at Mayo Clinic finally revealed an answer. Isabel was diagnosed with congenital thrombotic thrombocytopenic purpura (TTP), also known as hereditary TTP or Upshaw-Schulman syndrome. TTP is a disease so rare that it affects only about one in a million people worldwide, limiting the availability of clinical data and research on the condition.
“Mayo Clinic specializes in lab testing for rare conditions like Isabel’s because the needs of the patient come first. Even if only one patient has a condition, that patient needs an answer, and that’s what we focus on — creating the solution for them.”
William Morice II, M.D., Ph.D.
Isabel’s hematologist explains the condition as “an ultra-rare disease caused by a genetic mutation in the ADAMTS13 gene, leading to very low levels of the ADAMTS13 enzyme. Without this enzyme, the blood forms tiny clots in small vessels, consuming platelets and causing anemia, and can affect multiple organs, including the kidneys and brain,” says Ahmad Al-Huniti, M.D., a pediatric hematologist-oncologist at Mayo Clinic.
The diagnosis brought both relief and new challenges. “Finally having that diagnosis was wonderful. It wasn’t the answer you want, but at least we could start doing something about it,” says Carly.
For Isabel’s family, the journey became one of constant vigilance, advocacy, and adaptation. “You learn quickly to speak up, even if you’re wrong, because your child’s life depends on it,” Carly says.
The vital role of specialized lab testing
For families like Isabel’s, access to specialized laboratory testing is not just important; it’s lifesaving. “Lab testing allows us to live what we call a normal life, and to allow Isabel to live a normal life,” Carly says. “We’ve only been able to create this quality of life for her because of lab testing. Being able to have standing orders and a team of doctors who can look at those results is vital.”
Isabel’s care depends on frequent, highly specialized lab tests that monitor her ADAMTS13 levels, platelet counts, and other markers. As Dr. Al-Huniti explains, “We measure the ADAMTS13 level and inhibitor every few months to ensure she’s responding to treatment and to catch any complications early. Having access to these tests, and being able to get results quickly, is critical for both diagnosis and ongoing management.”
This is where Mayo Clinic’s Department of Laboratory Medicine and Pathology and Mayo Clinic Laboratories play a pivotal role.
“Mayo Clinic specializes in lab testing for rare conditions like Isabel’s because the needs of the patient come first. Even if only one patient has a condition, that patient needs an answer, and that’s what we focus on — creating the solution for them,” says William Morice II, M.D., Ph.D., president and CEO of Mayo Clinic Laboratories.
The ability to run these rare tests daily, rather than weekly or less frequently as is done at other centers, means that Isabel’s care team can make timely, data-driven decisions. “At Mayo Clinic, we have the knowledge as well as the compendium of diagnostics to really sort through those medical challenges for each patient who comes to us for an answer,” says Dr. Morice.
Living with both uncertainty and hope
For Isabel and her family, living with an ultra-rare disease means navigating uncertainty with courage and resolve. “There are days where she will break down and say, ‘Why me? Why do I have to do this?’” Carly says. “But she always finds something in the moment that inspires her to keep going. She’s overcome every obstacle put in front of her.”
Isabel’s journey is not just about survival; it’s about thriving. Dance has become her sanctuary, a place where she can express herself and find joy. “Dance has been a safe haven for her, away from everything that’s happening in her life. It’s where she can be herself, blossom, and build confidence,” Carly says.
Her story is also one of advocacy and trailblazing. “She knows that what she’s doing is going to help tons of people behind her. She’s blazing a trail for others with rare diseases,” Taylor adds.
Answers for patients with complex conditions
When patients experience serious, complex, or unresolved conditions, Mayo Clinic Laboratories helps bring clarity through a comprehensive test catalog designed to resolve diagnostic uncertainty. We provide a broad menu of specialized laboratory tests, including assays developed for low-prevalence diseases, paired with expert laboratory interpretation that supports individualized patient care. For conditions such as congenital thrombotic thrombocytopenic purpura, reliable access to precise testing and timely results is essential for accurate diagnosis and long-term management. By combining advanced diagnostics with deep subspecialty expertise, we support care teams in reducing uncertainty and helping patients move forward with greater confidence.
The promise of innovation
The future for Isabel is brighter thanks to advances in laboratory medicine and the dedication of her care team. The recent approval of recombinant ADAMTS13, an enzyme replacement therapy, has transformed her treatment, allowing for more effective management and fewer hospital visits. Isabel’s weekly therapeutic infusions can now be performed at home with the help of her father, Taylor, a paramedic.
“With the new treatment and our ability to keep her levels in a good range, her quality of life is excellent. The main worry now is the treatment burden, but being able to do infusions at home has been a blessing,” says Dr. Al-Huniti.
For Dr. Morice and the dedicated teams in the labs, patients like Isabel are the reason for relentless innovation. “What drives our focus on innovation are patients like Isabel and her family; people who come to us with questions, fear, and hope. Our mission is to provide the answers they need and deserve,” says Dr. Morice.
Enduring strength, science, and support
Isabel’s journey is a testament to the power of resilience, the importance of specialized lab testing, and the unwavering support of family and medical professionals.
“Isabel gives me hope for her future. She’s overcome lifetimes of challenges in just nine years, and her spirit continues to inspire everyone around her,” Carly says.
Through the partnership of her family, her care team, and Mayo Clinic Laboratories, Isabel is not just surviving. She’s thriving, dancing, and lighting the way for others with rare diseases.
