Update on Avery

We met with a doctor from Cincinnati Children’s Hospital today. Our goal in meeting with him was to get a second opinion on Avery’s health issues, since Dr. Harris is a senior bone marrow failure specialist who has more experience with Diamond Blackfan Anemia than our current hematologist. We were also hoping that he or someone he could refer us to would be able to put all of the pieces together, because Avery has many conditions that, so far, have not been tied together. He spent over an hour with us explaining to us some very technical, scientific processes and terms and drawing diagrams to help us understand. I’m going to try to pass on the information the best I can; please keep in mind, I am not a medical professional and may not say everything perfectly.

Avery’s journey w/ DBA started back in May of ’09 when he first presented with severe anemia. He was 13 months old, which is older than most people with DBA. Since then, he has undergone blood transfusions and has been responsive to high doses of steroids. Whenever we tried to wean him off to a lower dose, his hemoglobin dropped very quickly; thus, we started the process again and are trying yet again to wean him. This past fall, Avery’s platelets started to drop, slightly at first. Then they would rebound. They have continued to drop lower and lower and have not been rebounding as high. The platelet issue is untypical of most DBA cases, which has caused us some concern. The platelets could possibly be explained by a nasty virus that damaged his marrow and may take some time to recover from. However, Dr. Harris today explained that considering his late onset of symptoms of anemia, and now his platelet issues, we have to consider that Avery may be moving to full bone marrow failure. Also, having DBA already puts Avery at risk of developing leukemia. So, he suggested that we schedule another bone marrow aspiration to check and see if the platelet issues are a result of a virus or if there is a deeper problem emerging. The standard treatment for DBA is steroids (if they work), blood transfusions, and bone marrow transplant if the previous mentioned treatments aren’t working effectively. If by chance the bone marrow aspiration shows signs of full marrow failure or leukemia, Avery may then become a candidate for a bone marrow transplant. If the aspiration shows the same results as his biopsy from last year, we will continue with the weaning of steroids. If this does not work, he may become transfusion dependent, which carries its own long list of side effects.

We were also given some interesting genetic information. Avery’s microarray, which is basically a study of chromosomes and genes, shows that he has an extra copy of a gene on a chromosome. This second copy of the gene (called a Dock 8 mutation) occurred on top of the gene below it, cutting it in half. While the studies don’t indicate clear results of this particular mutation, the doctor today gave us some case studies done with children with this mutation. In this particular case, the children experienced developmental disabilities and some level of mental retardation. While he couldn’t say for sure that this genetic piece is the root cause of Avery’s severe developmental delays, this is the first piece of information we have ever been given that indicates a probable cause. The silver lining to this news is that finding this genetic mutation in Avery can be helpful perhaps in identifying other genes involved with DBA, since only around 45% of the cases have been genetically linked. When the doctor saw this mutation in Avery’s genes, he called a doctor from John Hopkin’s University, who is involved in DBA genetic research. This doctor was very interested to hear that Avery had a Dock 8 mutation, and said that he will begin research in this area to see if there is also a connection to DBA. This could be pretty amazing, since like Avery, there are many genetically unidentified cases of DBA, and searching for those links is like looking for a needle in a haystack unless you have a clue like Avery has provided.

All in all, we were given a lot of information and maybe some new direction. It’s going to take some time to process all that we were told. There are so many days I wish we could just stay home, lock the door, and never take Avery to another appointment; of course, I know that’s not possible. I hope you will all keep our little Avery in your prayers. We know that doctors can do so much to help, but we believe that God can work miracles.