I remember when our first engraftment results came back at 100% on Max's 7 month birthday! I can still see Dr. Davies dropping by unexpectedly and me meeting her at the door to find out what was wrong and seeing the results in her hand. I can still feel the relief when she told me that Max was 100% donor cells. I vividly remember the day Max's urine study showed GAG deposits again because his engraftment had been dropping and was now at 15% and not enough anymore. It was Roman's birthday, August 13, 2010. I remember that when I told Roman the next morning, we just packed up our things and drove to Rochester. We needed our family. Looking at the blog reminded me of how sad we were, even on the one year anniversary of Max's transplant. I couldn't imagine being here, where we are, four years after that first miserable anniversary.
We started Max back on ERT to help in the transition between the first, and possibly the second transplant. But while we were still in the process of finding a donor, and deciding on our future path, our geneticist found an article on PubMed. I believe, this geneticist for the second time, saved Max's life. The article was a case study of a child with an engraftment of approximately 10% (lower than Max's at the time), who instead of being retransplanted, went on to live a normal life and do well in a normal school. He was 11 years old. We gave this information to Dr. D and she contacted the doctors to see if this was something that we could use. We agreed to continue ERT and use MRS brain scans to track any GAGs that may accumulate in Max's brain. The hope is that the 10% engraftment provides for enough enzyme for Max's brain, while the weekly ERT provides enough enzyme for the rest of his body. Here we are, and Max's brain is still clear from GAG buildup. Thank G-d.
Max went to his first day of Kindergarten, incidentally, also on Roman's birthday this year. He has to go to the doctor a lot more than most kids. He knows medical terminology better than most kids. He has a weekly infusion for 3 hours, a port that recently got infected and needed to be replaced after 4 years of service. He has a lot of surgeries behind him and many more serious ones ahead of him. But Max is 5 years old, alive and he is thriving, and he is learning to swim and play soccer, and he is the best and most loving big brother to his sister, and he knows his letters and his numbers and hates being told what to do.
