Yesterday Katharine got a call from one of the NICU doctors asking us what time we would be in. Katharine explained we would not be in until after the shift change around 7:30 and that we did have a nursing interview/orientation. She asked if there was anyway we could come in earlier, because the geneticist wanted to sit down with us and all of Elias' doctors to discuss the results of his genetics testing. Katharine and I had already carved out a simple 2 hours for us to spend together for our wedding anniversary. We told them it had to be on Thursday. We settled on 2 PM Thursday afternoon. In hind sight, we are thanking God that it waited until today.
The results from Elias' genetics test came in yesterday and it has been definitively determined that Elias does not have VACTERL association, as we had thought. There were a few other things out there that are extremely similar, but have different prognosis. The test confirms that Elias has Fanconi Anemia (not to be confused with Fanconi Syndrome, there is a difference). It is not a true anemia, but it is related to blood disorders, thus giving it the name. Unfortunately, this was not positive news and one of the genetic diagnosis we hoped would be negative. We still are learning more about this, but these are the facts and concerns presented to us today. Fanconi anemia is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy (cancers). Progressive bone marrow failure typically presents in the first decade, usually around seven to eight years of age. There is also high instance of tumors of the head and neck, esophagus, and liver, presenting at an atypically young age and in the absence of other risk factors. Solid tumors may be the first manifestation of Fanconi anemia in individuals who have not experienced bone marrow failure. People with Fanconi anemia often develop leukemia and other cancers. In fact, Fanconi anemia patients have a much greater risk of developing acute myelogenous leukemia (AML) than people without Fanconi anemia. Fanconi's Anemia is very rare with an occurrence of about 1 in 100,000. Hearing this news today was a crushing blow. You could tell how upset and disappointed everyone was on the medical team. We kind of had a bad feeling going into the meeting when the minister that baptized Elias showed up in attendance. He had obviously been called to help the Social Worker and Genetics Counselor help us comprehend and comfort what we were hearing. Several of Elias regular nurses were in attendance as well. They were as shocked as we were, and very emotional and teary eyed. They all knew how serious this diagnosis was, you could see it in their eyes, hear it in their voices as they tried to hold back the tears, and watched their somber faces as the facts were spoken. We managed to hold it together until the Doctors left the room, leaving his nurses, minister, and social worker alone with us. We all broke down. So many there have become so attached to Elias, his wonderful attitude, extraordinary ability to make everyone's day happier, and that amazing smile he gives to everyone that he feels connected with. Word quickly spread throughout the NICU and many nurses and doctors offered hugs, tears and tremendous show of support.
As for the way Elias' medical care is managed now going forward, not too much will change. His GI repair surgeries will go on as planned. They will however have a higher threshold for giving him any transfusions, as this could produce antibodies that could ultimately be harmful if Elias has to have a bone marrow transplant. We will be adding a hematologist (blood disorder doctor) to the plethora of specialist now. We are hoping to meet with her either Friday or Monday. They are also going to do a very detailed DNA test on Elias to determine where exactly the breakdown occurs. With this information they can do quicker DNA testing on us and other members of the family to determine the risk that our brother's, sister's , and cousin's might have in being a carrier of this gene. We know that Katharine and I are both carriers of the gene, which means there is a 50% chance relatives also are carriers. We can isolate where the gene stops and who may or may not be affected. This will obviously be voluntary, but recommended, and we ask for everyone's support with this effort. We will discuss the testing candidacy and options with specific individuals as the need arises personally. This will not be something that is done overnight, but is on the horizon. We simply want everyone to be aware of the risk and not be put through the hell and agony we are suffering. There are alternatives and tests for childbearing for those identified as carriers, and it is possible, but not likely, that we are the only ones, we had to get it from somewhere. Fanconi anemia is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is 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. As we learn and research more we will continue to share our findings.
As for the plan to come home, that has not changed. However, right now the excitement is dampened and overshadowed by this devastating news. Hopefully, after a day or so to let it all sink in, as Tuesday approaches the excitement will heighten again. I think it is very hard to describe how we feel. I think we are struggling with how to feel. We have dealt with difficult news several times in the last few months, but this one feels more like a blow below the belt. I don't even feel as though either one of us has actually comprehended this completely. When the geneticist first started going over the lab report I felt the exact same way I felt on January 3, 2008 after the ultrasound. It was surreal, I heard the words, but was unable to truly grasp the seriousness. The best way I can think of to describe this feeling is like we are having to start over. Like we went through all of this and then suddenly someone yelled..."DO OVER!" I think being emotionally and physically drained from the last five months makes dealing with this so difficult.
We apologize that this is the way many of you, especially close family, are hearing about this, but we are still struggling ourselves to understand all of this. I'm not sure we could effectively verbalize this to anyone right now. This has been one of the most difficult updates to compose, for many reasons. It is literally taking hours to write. I'm sure it is one of the most difficult to read and accept, but we must accept this reality. We know that we will weather yet another storm and get through this, but how much more does God feel like we can handle? The load just got heavier and while we have faith he will give us the strength as usual, it does seem a little overwhelming right now. But we will continue do what we have done for the last 10 months, since this whole ordeal began, take it one day at a time, hold each other up, and get our strength from Elias. We know somehow for him we will use that strength and face each day with the cherished time it so rightly deserves. More than ever, we need all your continued support, thoughts and prayers. The tough road just got a little rockier, and we will certainly need help lifting us over the rough patches still to come. For now, Katharine and I are taking a little time to adjust and absorb this news, cry a little more, and figure some things out. Take care and thank you.