November 30

We are happy to report that Ema is making a lot of progress. She is still free of breathing aids. She has been waking frequently, and is very alert when she is awake. She has started taking breast milk, though she is breathing too quickly to bottle feed. Instead, she has a feeding tube through her nose (which she has already taken out by herself at least once). I had to leave Kansas City and head back to work, leaving Becky there by herself. The following is Becky's medical report for Ema as of Tuesday, November 29th:

The next two weeks will be very important for Ema's future:

Ema had her first immunology consult today, 11/29/11. Blood was drawn so that her lymphocyte numbers can be tested and evaluated. Earlier imaging tests showed that Ema has a small or missing thymus, which is a gland that produces T-cells, an important immune system cell. This imaging test suggests that Ema will very likely have low levels of immune cells, and thus a compromised immune system. The blood test that is now being done will determine how severe Ema's immune deficiency is; She will either have a "partial DiGeorge", where some thymus tissue is left and some T-cells are produced, or she will have "complete DiGeorge" where she has virtually no thymus and no T-cells. Whichever she has will mean a great deal for her future; Partial DiGeorge will leave her with more infections and colds and things, and a need for regular trips to an immunologist for follow-up, but is not usually life-threatening. Complete DiGeorge can be very serious, because her ability to fight infection will be so compromised. We will know by the end of the week which she has, and will determine then a plan of care for her future.

Ema also saw her cardiologist today. So far she is doing well, gaining weight and remaining stable. Another echocardiogram is scheduled for next week, and depending on those results surgery will likely be the week after. They will be looking for how big her aorta is in relation to the rest of her body, to determine whether it will be able to sustain blood flow under the new pressure. If is determined to be too small, than she will likely go into heart failure after surgery, which would likely mean being on constant IV medication to maintain balances.

Ema also saw a geneticist today. The genetic counselor explained that people with DiGeorge vary widely on the particular symptoms that they present with. Some individuals never know that they have the deletion, because they never show symptoms. Some people have heart problems, like Ema, and nothing else. And some individuals have a variety of mix- and - match symptoms. We really won't know until later how severe all of her symptoms are, as some of them don't present themselves until later, like any possible learning disabilities. They also suggested that Ema receive care from the early education program once she is home in Newton, so that Ema's parents have another resource to use to measure and evaulate Ema's development for signs of problems, and also to connect them with any therapies she may need that they provide, like speech therapy, occupational therapy, or physical therapy. They also suggested that Ema's parents be tested to see if they have the deletion, so that they can make decision about other children. Ema will have regular visits with a genetic counselor in the future.

Ema also saw an endocrinologist for the first time today. They plan on running bloodwork for her to determine the function of her endocrine system, the system that deals with her hormones. Doctors already know that several of Ema's levels are a little abnormal, such as her calcium level, which is low. The bloodtests will help determine if any of her other hormones are abnormal, so that they can begin to treat the deficiencies and plan for the future. Because of her calcium levels, we already know that she will need calcium supplements once she is no longer receiving IV nutrition.

Ema still is getting feedings every three hours, and has even slowed her breathing enough to receive one bottle feeding! She has begun to be used to her feeding routine, and is waking up hungry a few minutes before her scheduled feedings. This is a good sign that she is processing her food and that she is developing an independent feeding routine, something that most babies develop normally.

She also loves her binky, and the new mobile that her parents got her!