“I care about rare.” Rare disease research brings leading-edge care to patients with Fanconi anemia.
“I care about rare.”
These are the words Mary Jo Becerra lives by as the mother of two children diagnosed with a rare disease.
But on Rare Disease Day – and year-round – it’s important to recognize that we all have a reason to care about rare. Over 7,000 conditions are classified as “rare” in the United States, and together they affect 25 to 30 million Americans and their families. That’s almost one tenth of the population.
The Becerra family has had two children go through bone marrow transplantation for Fanconi anemia (FA), a rare genetic disorder that can lead to bone marrow failure and certain forms of cancer. Their son Israel passed away in 2015 due to complications from his disease and treatment. Their daughter Mariana was transplanted in 2016, two years after her brother. She’s doing well five years later and continues to receive care from a team of FA experts at M Health Fairview Masonic Children’s Hospital.
Israel and Mariana’s story represents the constant advances and research in rare disease care – why so many families have a reason to hope, and why it’s important to invest in rare disease research.
Clinicians and researchers at Masonic Children’s Hospital are now working to prevent the complications Israel experienced – with the help of funding from nonprofits like the Kidz1stFund, started by Texas A&M Football Coach Jimbo Fisher and Candi Fisher, whose son was diagnosed with Fanconi anemia. With their help, we established the Kidz1stFund Comprehensive Fanconi Anemia Center in 2018.
“Twenty years ago, only 25 percent of children with FA were alive and well three years after a bone marrow transplant with an unrelated donor,” said M Health Fairview Pediatric Blood and Marrow Transplantation and Cellular Therapy Physician Margaret MacMillan, MD, who conducted the transplants for Israel and Mariana. “Now, our success rate at M Health Fairview Masonic Children’s Hospital is over 95 percent for FA patients who receive a related or unrelated donor transplant.”
While MacMillan is excited about all the progress made to advance our treatment and understanding of FA over two decades, she will never forget patients like Israel. “They fuel our desire to have all patients survive transplant and go on to have a long, happy life.”
Two siblings, one shared diagnosis.
FA is a genetic disorder. This means that it runs in families, though not every family member will have it. Both Israel and Mariana were unusually small in the womb and were born with some of the most common symptoms of FA. Israel had only one kidney at birth. Both children had thumb abnormalities and a growth hormone deficiency, meaning they didn’t grow well and were always small for their age.
“One of the main obstacles that patients with FA face is that they can’t repair their DNA well,” said MacMillan. “We make new cells by dividing one cell into two. Our bodies need to line up and copy our DNA perfectly, but patients with FA aren’t able to do that well. Their bodies are more likely to make incorrect cells.”
FA leads to bone marrow failure or leukemia in the majority of patients, which is why so many need a bone marrow transplant. Bone marrow failure happens when the stem cells in bone marrow are no longer able to create enough healthy blood cells to sustain the body.
The care team at Masonic Children’s Hospital carefully monitored both Israel and Mariana’s medical concerns. Eventually, both children needed a transplant to survive. Israel received his bone marrow transplant as a 5-year-old in 2014, and Mariana as a 3-year-old in 2016.
