A busy week it has been, one last appointment tomorrow (opthalmology).

Genetics is running the TAZ gene test to rule in or rule out Barth's Syndrome, but refuses to do any other testing stating Abe "looks really good" and thought that he would be a "whole lot sicker" if he had Barth's, any storage diseases, metabolic disease, or chronic neutropenias. Geneticist thinks the entire cause is the enterovirus - however, we recently found out the type of enterovirus and this would contradict the "virus being the cause" theory.

Hematology shared several theories with us about ABe's low/non-existant neutraphil count. The firsttheory and test is a Complete Blood Count to see if the neutrophils have increased (found out today that they have not). Second test is to see if the enterovirus Abe had is spawning over and over again in Abe's blood (which could be happening even if he tests negative for enterovirus in his nose and bottom), and the doctor said if this is true it could be keeping his neutraphils (bacteria fighting white blood cells) low or non-existant. The other theory is that Abe's blood has created an antibody that fights against the neutrophil production. If this is the case he will be diagnosed with what is called "Benign neutropenia of Childhood" which resolves usually by 4 years. There is treatment for this, an injectible that can cause extreme bone pain but may only need to given when Abe is sick with a fever vs. like a maintenance medication. One of these tests or the other takes 2-3 weeks, the other 2-3 days...I can't remember which one is which length of time. Of course the hemotologist will look for Leukemia which is a possibility, but it's unlikely with current blood test results. Due to having neutropenia, it's likely Abe will need to have his bone marrow aspirated once a year to check for any changes in this blood that would signal a leukemia because the neutropenia puts him at a higher risk of getting Leukemia. We did get Abe's neutrophil count test from yesterday and it again came back at 0 again so it's likely we will be doing a bone marrow aspiration sometime in the future to check for abnormalties.

More news...Abe's virus was finally typed to be the Coxsackie A24. . .this strain does not attack or damage the heart. Therefore, we are likely looking for another cause and condition that is causing the heart disease and neutrophil problem - which is a good reason to have the Barth gene ran since these are classic symptoms of Barth's. A couple of our docs are adamant that this is what Abe has, another couple are sure that he does not have this. So, as you can guess we are anxiously waiting for the test results that take 6-8 weeks.


Went to GI today and Abe's on a new med to help with motility that will hopefully help Abram to eat at a faster rate rather than taking an hour and a half. OT at Children's Hospital will be meeting with him to evaluate him for a swallow study (he chokes a lot). He is starting OT through Infant and Toddler services, we are in the "family plan" stage so it will be a few days before the actual OT starts.
Will report on opthalmology if anything significant comes out of this appt. Abe is now in the 10-25% for boys his age/weight/height according to GI, this is progress. Kicking a lot, still smiling, and active when awake.