A Resilient Mother’s Journey Through a Rare Diagnosis

 

Kristi Masinelli, 49, of Staunton, Ill., noticed something amiss during her first pregnancy in 1999. Her platelet count was very low, and over the course of her pregnancy, it continued to fall. She began platelet transfusions, but a bone marrow biopsy showed nothing unusual. After a normal delivery to a healthy baby boy, her platelets went back up.

Four years later, the same issue occurred with her second pregnancy. Her doctors suspected it might be idiopathic thrombocytopenic purpura, or ITP, a condition in which platelets are destroyed by the immune system. 

It wasn’t until the fall of 2006 when Kristi really felt something was wrong. A visit with her oncologist in Springfield, Ill., who she saw once a year, revealed her cell counts were again very low. More testing and bone marrow biopsies followed, still with no avail. Kristi became transfusion dependent, using blood faster and faster and requiring transfusions more frequently. She knew she couldn’t continue this forever. 

After a year of seeking answers and a referral to Mayo Clinic, Kristi was finally diagnosed with aplastic anemia, a rare autoimmune disease in which the bone marrow is unable to produce blood cells.

“Getting a diagnosis was a huge relief and a moment of panic all at the same time. All along, I had been thinking, ‘I’ll be fine as long as it’s not aplastic anemia’ — it was the one thing I really didn’t want, but at least we finally knew what we were battling,” says Kristi.

The doctors at Mayo Clinic recommended a stem cell transplant as soon as possible, but Kristi was scared and far from home. She decided instead to continue her care at Siteman Cancer Center.

Trust Through a Transplant and Trial
Kristi after her transplant. See Kristi’s photo gallery.

Kristi met with her oncologist John DiPersio, MD, PhD, for the first time in August 2007. She began anti-thymocyte globulin, or ATG, an immunosuppressive therapy administered intravenously, in addition to other immunosuppressants for the next four years. During her treatment, Kristi was routinely hospitalized, experiencing serum sickness and Clostridium difficile infection, or C. diff.

Throughout this time — and since the very beginning of her journey — Kristi was supported by her husband of 25 years, Dave. “He has been a rock for our family. He has been outstandingly supportive, never making me feel guilty or less than for being sick,” she says. “I couldn’t ask for a better partner.”

Eventually, these therapies stopped working, and Kristi had a stem cell transplant on December 28, 2012. Her sister Susan was her donor. Post-transplant, Kristi experienced acute and chronic graft-versus-host disease, or GVHD, but her cell counts were finally stable.

In mid-2018, Kristi became sick and was hospitalized with post-transplant lymphoproliferative disorder, or PTLD. It had spread to her lungs, liver, spleen, intestines and bones. Dr. DiPersio enrolled Kristi in a clinical trial targeting the Epstein-Barr virus, the driver of her lymphoma. By New Year’s Eve, her PET scan was clear. 

“Dr. D is a magician. He has pulled a rabbit out of his hat over and over again for me,” says Kristi. “Every time things look bleak, he turns around and comes up with the next thing that’s going to keep me going.” 

More Time for Memories

Since then, spots of lymphoma have come and gone. Kristi and her family don’t use words like remission or cancer-free. Instead, she focuses on how she is doing at this point in her life — and she’s doing well. She continues taking immunosuppressants and managing her GVHD symptoms.

“It’s a way of life,” says Kristi. “We hold the course and live a new normal. The next thing comes along, and we adjust and have a new normal all over again.”

Kristi with her family at her son Jake’s high school graduation in 2018.

When she’s feeling well, Kristi enjoys the outdoors with her husband and two sons, Jake, 20, and Joe, 16. Together, they hike, fish and even fossil hunt. She also enjoys trips to the lake with friends and an annual trip to the beach. 

Kristi credits this time and these memories to her care team at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine.

“They have given me years and years of life. They have given me years with my boys,” says Kristi. “Over the years, I’ve made countless little imaginary goals or finish lines. I kept saying, ‘If I can just get my sons to xyz grade… to this milestone… my family will be okay.’ Truth is, they’ll be okay no matter the outcome, but I’m so grateful for the unexpected time. Dr. DiPersio and his team have achieved miracles.”

Read other patient stories here.