The diagnosis

This has been the most informative week so far! We finally have an answer for what has been causing Charlotte to be so sick. It is both a relief and terrifying at the same time. This week she finally received a diagnosis of Congenital Amegakaryocytic Thrombocytopenia from our hematologist. This is a long name that basically means Charlotte's bone marrow does not make platelets like it should. We knew she had a low number of platelets in her body, but there are many reasons why this can happen. After endless amounts of testing, we finally have the answer. What caused Charlotte to have this bone marrow failure syndrome is that we passed it on to her. This is where you need to pull out a genetics text book. We are both carriers of a recessive gene for a very rare bone marrow failure. At conception, we both passed on our recessive gene to Charlotte. Therefore, she now has a bone marrow failure syndrome. The probability of both of us having this rare gene, and then passing it on to Charlotte, is so slim it is almost unbelievable. Our hematologist has never had a patient with this diagnosis. This diagnosis also explains why she had growth restriction in Laura's belly, why she had a heart defect, why she had an endocrine problem, and why she had low platelets. This diagnosis causes those things to happen. To be honest, as a mother, it is a huge relief to Laura to know that it is not something she did while pregnant that caused Charlotte to be so sick. (Even though Laura had followed all of her doctors instructions to a T.) Ultimately, Charlotte has a syndrome caused by genetics. The genome study in which Charlotte is involved is searching for the gene that caused this bone marrow failure syndrome, so that we can have that knowledge when we have children in the future. So, now Charlotte will be having a bone marrow transplant. This is the only way that Charlotte's bone marrow will ever be able to function properly. Because she is Caucasian and she is small, we will have a large selection of donors to search for a 10/10 match for Charlotte. (There are 10 antigens that a person needs to be a perfect match for a bone marrow transplant.) Charlotte will have a bone marrow aspiration next week which is a procedure to draw out part of her bone marrow and look at it under a microscope. This will tell us definitively that she is not making any platelets. Then, we will start looking for a transplant donor. Charlotte will most likely have her transplant when she is around 7-8 months old. It will be a difficult road for a little while, but we have several friends and doctors from around the country who are well versed in bone marrow transplants. We are armed with lots of information and lots of support! We will look at several hospitals including Hopkins, CHOP, and DC Children's hospital and pick the best one for Charlotte. In regards to Charlotte's stay at the University of Maryland, we are working on the final piece of the puzzle to get her home: swallowing. One day at a time, as they say. As for our family, we are stronger than ever, and this is only going to make us closer. As for Charlotte, "Though she be but little, she is fierce!"