Thursday, September 27, 2007



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.

Thursday, September 20, 2007

Look Ma, I do have clothes!



It's been a week since a new post, I have to apologize. Not much has happened as we haven't had any doctor appointments, and timing just isn't of the essence for me to blog! We continue to hold Abram A LOT and he is gaining weight, 14 pounds 11 ounces today. Still vomits which is distressing for us and him, but not affecting his weight thankfully. The more we hold the less he vomits it seems. Hopefully with his growth and bottle feeding starting we will see less of it. Next week will be a busy week, so I don't anticipating blogging much or at all, just an fyi. We see the geneticist and hematologist next week, and Abe start occupational therapy for help with feedings. Doesn't sound like much, but anything in addition to our regular routine takes away from precious nap time which effects us all :). Abe has caught on to Peek-A-Boo and beginning to understand how fun raspberries on the belly can be. He is very content most often, smiley, and chipper...

Thursday, September 13, 2007

Today the home health nurse was here and Abram weighed over 14#. He's more strong, able to pull his head up when you pull on his arms. He gave me his first full blown belly laugh today, as I was wiping him up after changing his diaper. Of all times!Blood count for neutrophils remains at 0 so Abram will be having a bone marrow aspiration done Sept. 26. We will be starting occupational therapy soon for feeding help as Abram can have the bottle twice a day x 10 minutes. We are also starting with a new GI doctor in October.

Monday, September 10, 2007

GOOD NEWS

Finally, some definite good news. Abe's appt. at the cardiologist today went well. His echocardiogram showed about a 25% immprovement in his numbers of ejection fraction and left ventrical size. This means his left ventrical has shrunk a little as it was so enlarged, his heart is beating stronger and is less weak (went from 27% to 47%), and she is optomistic about a full recovery of his heart! We were elated to get this news. We aren't out of the woods yet, about half way there. We pray that the medications continue to correct his heart...
Had blood drawn today for neutrophil count and some immune tests that willl take a couple weeks to get back, and urine sample to measure calcium. Will report back on results.
Thank you for all your thoughts and prayers out there, they are working!

Sunday, September 9, 2007

Excited for Monday

Tomorrow we head to the cardiologist to see how Abe's heart is holding up. He has been more sleepy, sleeping more often through the day but more active when he is awake. He kicks like crazy, grabs and holds toys, jibber jabbers, smiles, and has started a mild belly laugh. He rolled over from his side to his belly twice yesterday, progress! We also have a new appointment with the geneticist Sept. 25. Will have to do more research to get prepared so we can ask for the tests we want, as the geneticist refused us an appointment twice even after formal referrals from the cardiologist and pediatrician. I believe the goal will be to test for metabolic disorders i.e. Barth's, 3-Methylgloc., congenital neutropenia, Kostmann's, etc. And then we see the hematologist October 2 which will be interesting too. In the past, in the hospital, the hematologist talked about studying Abram's bone marrow for answers so we are excited to get to the bottom of all of what's going on!

Wednesday, September 5, 2007

Infectious Disease Update/Visit from Nanni and Papa






Today we saw Dr. Newland, Infectious Disease doc who has been caring for Abram through his MRSA (staff) and virus issues. Dr. Newland reiterated that August stool and nasal tests confirm that he no longer is carrying the enterovirus or MRSA. However, in order to be considered "de-colonized" of MRSA and enterovirus, these tests must be run three more times and return with negative results. Our #1 test was today, two more to go. Dr. Newland also discussed with us the neutropenia and his thoughts were to get genetics involved, and that it is now unlikely that the enterovirus is causing the neutropenia since the virus is likely out of Abram's system. He is going to talk with genetics and a genetic resident he knows about possible metabolic tests since it is likely something other than the virus driving Abe's blood count low. He wasn't sure if this is something that can be tested since Abram received a blood transfusion and immunoglobin in the hospital in July. We no longer have to follow up with him or infectious disease unless something returns. Next Monday we see the cardiologist and have another CBC. Can't wait to see what his blood will do this time around barring he no longer has viruses or infections (that we know of anyway.) Keep your fingers crossed that his neutrophils are up and Leukocytes are down!