Many races are run each year. There are the New York Marathon as well as the Indy and Daytona 500s. But none is as important as the one we’ve been racing—the race against the clock and a deadly disease called Fanconi Anemia (FA). I am writing to ask for your help in winning this race.
As many of you know, both of our kids, Katrina and Jared, are afflicted with this disease. FA is a rare genetic disease - primarily a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, 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 patients have a high risk of bone marrow failure, leukemia, and cancer. FA may affect all systems of the body and is a complex and chronic disorder that is psychologically demanding.
Due to its rarity, many cases of FA are not diagnosed in a timely manner. Scientists have now discovered 18 FA or FA-like genes, one of them being the BRCA2 gene that my husband and I have unfortunately passed on to our kids. The most common cancer in the BRCA2 complementation group is brain cancer, but this group also has a very high risk of leukemia and kidney tumors. Although the median lifespan now for someone with FA is 30 years old, for the BRCA2 group, there is a 97% probability of death by age seven.
Katrina’s health challenges were apparent since she was born. She was fed via g-tube, had severe hearing loss and chronic kidney disease. At a young age of 3½, Katrina’s battle with Acute Lymphoblastic Leukemia began. She endured 2 years of chemo, went on remission for a few months but sadly showed signs of bone marrow failure and eventually relapsed with Acute Myeloid Leukemia. She had her bone marrow transplant from an unrelated 30 year old male donor on April 19, 2011. Although she fully engrafted and became cancer-free, she passed away on August 30th 2011 from post bone marrow transplant complications. We miss Katrina so much. Katrina always had a positive attitude, always content. She never felt sorry for herself. What other kids could do, she would show that she could too. She was a brave, vibrant, confident, loving little girl who is so appreciative of the simplest gifts. Thinking beyond herself during her most challenging moments, Katrina, with a relentless spirit looked at us and gave us a thumbs-up. That was her last gesture to us and the last time we saw her awake. She lived 6½ years of her life here on earth bravely and joyfully.
Jared on the other hand is now seven years old and enjoying life to the full. He has his own challenges (i.e. moderate hearing loss, chronic kidney disease) but never lacks in confidence. He is currently under the care of FA specialists monitoring his bone marrow and blood counts. Although his condition is stable at this time, we are racing against the clock. Will it be tomorrow when he is diagnosed with cancer or bone marrow failure? We hope and pray not but we have to do the best we can to advance the fight against FA.
It is always hard to raise money for a problem like Fanconi anemia that affects so few people directly. It’s been a small, private fight, shared with other afflicted families—and with friends like you. However, in the last few years, scientists have discovered that FA genes play a key role in the repair of DNA and genomic stability. New treatments are being developed, and breakthroughs are on the horizon, but defeating this illness will require the help of generous souls.
Michael and I will be running the Disney Half marathon on September 6th to benefit the Fanconi Anemia Research Fund. Jared will be doing his part also as he runs the 400 meter dash on September 5th. Fanconi Anemia Research Fund is an international support organization dedicated to furthering scientific research on FA. All donations are tax deductible. The Fanconi Anemia Research Fund is a 501(c)(3) tax-exempt organization. The tax identification number is 93-0995453. THANK YOU!