Hi, my name is Maggie. My mommy started this site to keep everyone updated about my journey with a rare bone marrow failure disorder called Diamond Blackfan Anemia.
Thank you for taking the time to read about me!
Maggie's story started at 8:49 am on Tuesday August 19th, 2008. After a long 9 months full of ups and downs (including a cystic hygroma, a CVS test, and tons of ultrasounds and fetal echocardiograms) we welcomed our little girl into our lives and fell completely in love. She seemed perfectly healthy at birth, weighing in at 6 lbs, 5 oz and pink as could be. She was given a clean bill of health and 3 days later we came home to settle into a routine with Maggie and her 2 big brothers.
4 weeks later Maggie came down with a cold, I decided to call our pediatrician when almost a week had gone by and she still wasnt better. I figured I was being overly paranoid, but better safe than sorry. We got to the dr.'s and realized she had hardly gained any weight, she had a heart murmor and her dr. thought she looked pretty pale. He decided to send us for bloodwork that night to be sure everything was okay and 2 hours later I got a phone call that changed everything. Her dr. told us that Maggie's labs were pretty alarming and we needed to get her to the ER, we knew it was bad when he told us we needed to call 911 as she needed to go via ambulance. When we got to the hospital we found out she had a hemoglobin level of 3 (a normal hemoglobin starts around 11, a 3 is an extremely critical blood count). She was admitted to the PICU and a couple hours later received her first blood transfusion. She ended up getting 3 transfusions during her first stay in the hospital and now receives a blood transfusion about every 2-3 weeks.
Maggie was officially diagnosed with Diamond Blackfan Anemia after a bone marrow biopsy showed no red cells being made in her marrow. She also has tested positive for the RPS 19 gene mutation that is the most common gene mutation found thus far in DBA patients.
Diamond Blackfan Anemia is a rare life threatening disorder, affecting only about 750 people in the world. People with Diamond Blackfan can not make enough red blood cells needed to survive. It is usually diagnosed in infancy and has no cure.
Updated 2/10- Maggie recently had trial of steroids..steroids can cause some people with DBA to start making red blood cells. Unfortunately the steroids did not increase her red cells and she was taken off after a 4 week trial. We have started Maggie on desferal to reduce the high amounts of iron in her body caused by all the transfusions. 5 days a week for 10 hours a day Maggie is hooked up to a pump that administers the medicine through her central line. We are looking at doing a bone marrow transplant when she is around the age of 3 with her brother Lucas as her donor.