Hear about Fanconi anemia from Eli’s perspective:
Fanconi anemia (FA) is a rare, inherited chromosome disorder that can affect all systems of the body. In Eli’s case for example, he was born with several physical abnormalities, the most obvious being that his hands and arms are missing bones. Then at age six, Eli was found to be in severe bone marrow failure. This led to the FA diagnosis.
Though Eli’s FA traits are typical, lots of individuals with FA show no outwardly signs at all, and some may not go into bone marrow failure in childhood. Others still have far more severe symptoms, and depending on the type of FA they have, may have extraordinarily high likelihoods of developing leukemia before age 5. And there are others who do not experience bone marrow failure, period. But the majority do, and regardless of that, the sobering truth is that FA individuals are 500-700 times more likely to develop aggressive forms of cancer at very early ages.
FA has historically been considered a blood disorder. When it was discovered in 1927 by Guido Fanconi, the primary symptom he found was the bone marrow failure, called aplastic anemia (not to be confused with the type of anemia caused by low iron.) And so it was named, Fanconi’s anemia. But since its discovery and with the advancements of research, scientists have learned that FA is much more than a blood disease. It is in fact better described as a DNA repair disease.
We now know that those with FA have fragile chromosomes. FA chromosomes break and can’t repair themselves like healthy normal cells would. This leads to bad, mutated cells that can replicate out of control. That’s cancer. Typically the cancers we see in people with FA are those types that afflict non-affected individuals much later in life. And the kicker? Because of their fragile DNA, individuals with FA cannot tolerate the chemo and radiation that would effectively combat the cancer. Conventional treatments are lethal for FA cancer patients.
So we need research. We need better cancer treatments, and we need to be able to prevent cancers from starting. That’s why when an FA researcher makes a breakthrough discovery on DNA repair, gene therapy, or a cancer tumor, it’s good news for all of us. The studies on FA patients have wide reaching benefits. We need to continue exploring other effective life-saving alternatives to repairing bone marrow failure. Yes, bone marrow transplants are extending many lives and success rates are improving. Right now they hover around the 80-85% mark for unrelated donors. That may sound hopeful, until you start putting names and faces with the 15-20% for which that treatment didn’t work. Piper, Cooper, Justice, Katie, Niko, and Israel to name a few. All kids with FA who went through transplant. All kids who are no longer with us. We need alternatives and we need them now.
We have to do better.