We met with the Hematologist yesterday for Elias' first blood sample testing for his Fanconi Anemia. We got the results back today and the counts they look at, compared to his last blood labs from his October hospital stay, are improved. The key being that his blood platelets shot up by more than 100,000. They will continue to do these blood tests roughly every 4 months as long as his tests come back the same or better. If they are reduced we will follow up sooner, not because there is an issue, but more as a precautionary measure to determine if it was due to illness, infection, etc. or a sign of things beginning to occur with his FA and bone marrow failure. Obviously, there are things that happen in our bodies that will cause these numbers to fluctuate without having any relevance to our monitoring. We did discuss the first bone marrow aspiration and biopsy which would be around 1 year of age. She would like for him to weigh 20 lbs to get a better sample, but at Elias' current weight gain ratio that doesn't seem likely. He is only averaging just under a pound per month right now (he just hit 11 lbs yesterday). We will reevaluate his weight next May and determine if we want to wait or not. None the less we are pleased to see his numbers improved, especially the platelets, because he had such an issue with them being low while in the NICU, requiring several platelet transfusions. We actually do not have to go back until April for more testing. The other positive we discussed was the ability to coordinate his bone marrow biopsies with his other upcoming surgeries, so there would not be another need to place him under general anesthesia. That was nice to hear. She also gave us some information for a study being done with FA. They would like us to participate, so we are looking that information over and making a decision. We were very impressed with our hematologist. While we did have an opportunity to meet her while in the NICU, it was during a very chaotic time and she herself did not have many answers, as you would expect with a rare disease. She has educated herself over the last few months and contacted colleagues to enlist their help. She also has spoken with several key Doctors in the field specializing in Fanconi Anemia, who have offered to extend their expertise in analysis and care management. That to us spoke volumes that she is willing and able to embrace this challenge and confidently direct us. We add her to our already growing list of incredibly passionate doctors who are caring for and treating Elias.
Tomorrow is our appointment with the geneticist. We should be getting results of the follow-up testing to determine which of the FA gene mutations Elias has. We will update you on that visit tomorrow or Friday. Elias continues to have a few emecis episodes a day, usually after chest PT or any activity that gets the fluid in his lungs loosened. So we definitely think it is more mucus related than reflux. We have been referred to an ENT specialist, yes another doctor, who we visit in January. The ENT doctor will also help to manage the tracheostomy as well. Otherwise, Elias seems glad to have his daddy back (after being sick), without the big blue nose (medical mask). He has been very happy to be able to play. The first thing he did this morning when I picked him up, I thought this was too cute, was touch my nose. Elias has learned when he touches daddy's nose it goes "meep meep" (kind of like the roadrunner from looney tunes, not too many toys out there for his physical make-up so you create your own learning tools, right?). He just laughed and laughed and his eyes were bright. I think he was happy to see daddy back to normal and his days back to the way they were, and I am too!