Mike London and Fanconi Anemia
The Washington Post article on Mike London includes the story of his daughter Ticynn and her diagnosis of Fanconi anemia at age 4. At the time he was working at Boston College. Ticynn needed a bone marrow transplant. The national registry found no matches. No family members matches.
Fanconi anemia (FA) is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is inherited as a recessive disorder which means if both parents carry the genetic defect (mutation) in the same FA gene then each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.
FA occurs equally in males and females. It is found in all ethnic groups. It is mainly considered primarily a blood disease, but can affect all systems of the body. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Cancers they must watch for include head and neck, gynecological, and/or gastrointestinal squamous cell carcinomas. These cancers occur in FA patients at a much earlier age than in the general population.
Fanconi anemia usually reveals itself before children are 12 years old, but in rare cases no symptoms are present until adulthood. FA patients are often smaller than average. They may feel extreme fatigue and have frequent infections. Nosebleeds or easy bruising may be a first sign of the disease. If they are not diagnosed until young adulthood, then myelodysplasia, AML, or squamous cell carcinoma may be the first sign of FA.
FA patients may have hand and arm anomalies such as a missing or extra thumb or an incompletely developed or missing radius (one of the bones in the forearm). They may have other skeletal anomalies of the hips, spine, or ribs. FA patients may have missing or horseshoe kidneys. Often they have café-au-lait spots on their skin.
The definitive test for FA at the present time is a chromosome breakage test.
London’s daughter finally got her bone marrow transplant from an unusual source – her father. Parent’s aren’t usually matches, but luckily for Ticynn her dad was.
London is reported to say, "Doctors don't want to say 'miracle'; they all say 'rare' or 'very rare.' But I can call it a miracle. You go through that registry from all over the world, and the only marrow that can match is mine, and then it works? And I can save my daughter's life?"