We brought Emma to the doctor on April 28 due to some breathing issues over the previous 24 hours. It wasn't long before she was in the emergency room, followed by a helicopter ride to Dartmouth hospital. Initially, they thought the right side of her heart was enlarged, and she was identified as having dilated cardiomyopathy. After three xrays, three echo cardiograms, a catscan, numerous blood work, urine samples, a skin biopsy, heart catheter, broncoscopy, and thirteen days in the hospital, we still do not have an answer. There are still outstanding blood samples and skin biopsy results that have not come back. She has blood as far away as the University of Alabama that is being analyzed. Some of these tests take weeks for results. The skin biopsy, for example, takes twelve weeks for results. Some of the neurological tests are testing for abnormalities with her oligosaccharide levels, enzyme abnormalities, and probably other things as well.
During the length of her stay, Emma's oxygen levels have been low. When we first got to her primary hospital, her level was 67%. The minimum they like to see is 90%. She is currently on oxygen at home, and we have no idea when she will be able to come off of the oxygen. It is a little frustrating that when she had her g-tube and button surgeries she had borderline oxygen levels (upper 80s, low 90s) and this wasn't a concern at the time. The logistics of being on oxygen at home are still awkward, but I'm sure it will become second nature after doing it for a while.
Following this hospitalization, Emma has had blood work to test for surfactant protein deficiency. This is a rare genetic condition that the pulmonologist has only seen about half dozen times in her career, and has not seen any cases of this at the hospital where we were at. The research for this deficiency really only got started about ten years ago, so there is not a lot of information out there about this yet. Therefore, it is hard to make long-term prognoses. If the work-up for this deficiency (which takes 4-6 weeks) comes back normal, the next step is likely to be a lung biopsy. If this test comes back abnormal, we may be closer to an answer. Because she was scheduled for blood work, the neurological metabolic specialist had them take some blood to test for an enzyme disorder.
