Hello! finally a moment to leave a note. We are doing well, Abram is over a cold and constant diarrhea so mama and dad are getting better rest. He had his first Christmas with our good friends, the Durans, last night and seemed to be worn out today from it all. He received a ton of toys and the cutest outfits! He had a great time and seemed to be in the Christmas spirit! We continue to visit doctors about once a week. Abe's liver is slightly enlarged and the docs are trying to find out why. Nothing real obvious. He had a swallow study and we learned that Abram aspirates thin liquids so he is not on the bottle right now, but taking in bites of babyfood and pureed food that is thickened. Friday we will attend an occupational therapy consult which will hopefully teach us how to feed abram his formula. We were making some progress with oral feedings, slow, but progress - until we learned he was aspirating and had to stop, hopefully only temporarily. We are so busy keeping the house spic and span for showings as we look for ranch style home for Abram to live in as we expect stairs will tire him easily, and since I can't return to work we need to downsize a bit. Sad that we have to leave our first house where we have so many memories, and the comfort of knowing only we have lived here so we know what germs are here! But we will take these memories, and clorox wipes, to the next house and make it our home. That's all for now. Love to all, Erin

BELOW IS AN ARTICLE ABOUT A LITTLE GUY IN TEXAS WITH BARTH'S...COPY AND PASTE IN YOUR BROWSER WINDOW...

http://www.oaoa.com/news/keli_10638___article.html/holly_boy.html

http://www.oaoa.com/news/keli_10638___article.html/holly_boy.html

Great News

On our wayto the doctor for immunizations, so not a lot of time to write. But, wanted to pass along that Abram had an echo of his heart yesterday and the ejection fraction is 59%! Normal is 60=75%, we are exstatic with this news. The medications are working and he will probably have to be on the forever, but we are thankful they are working! More later. . .

Hello! I am having a hard time finding the time to blog about Abram so am going to try something new. I will perioodically, hopefully a couple times a month, send out updates on Abram with pictures. I may still use the blog, but again, it's hard to find the time to log in and talk. Please send me your email address if I don't already have it at emiller14@sbcglobal.net. Thanks!

Abram had another appt with the GI yesterday who is making referrals to the endocrinologist to help find out if Abram has hypoglycemia, something commonly found in boys with Barth's. We need to know before tapering down feeds at night, and prior to any surgeries for fasting reasons. We are looking at Abram possibly getting a Mic-key, as I might have mentioned in the previous blog. We are also scheduled to see a urologist and have an ultrasound of Abe's kidneys and bladder. There is a possibility that Abram has kidney or bladder stones or sediment. Not much otherwise. We are looking forward to our first real trip back to Fort Dodge for Thanksgiving, keep your fingers crossed everyone back in Iowa is healthy for our return!

Still here...

It's been quite some time since I've had the chance to blog, my apologies! We have finally confirmed Abram's condition, and yes indeed he does have Barth's Syndrome. I will try to post some information from it, if you want to learn on your own there is a foundation website - http://www.barthsyndrome.org/english/view.asp?x=1. Basically, Barth Syndrome consists of dilated cardiomyopathy (dilated and weak heart), neutropenia (lack of blood cells that fight bacteria), delayed growth and development, muscle weakness, exercise intolerance...other symptoms can include feeding issues (we certainly have those :)), diarrhea, fatigue. There are degrees to which all of this effects each boy, so we have yet to see to what "degree" Abe will suffer with the symptoms. Some boys can't go to school full time due to fatigue, most are able to walk on their own but have some gait issues, and typically the neutropenia (or infections) lessen as the boys get older. Hard news, but good to know what we are dealing with. Abram is doing rather well. No fevers, hospitalizations lately. A cold here or there. Occupational therapy has started and he is already making progress. He is sitting in the highchair once a day and tasting baby food. He much prefers salted baby food...has a thing for salt, not liking much of anything else (I have read that this is a preference amongst babes with Barth's). He began to suck on the bottle yesterday and drank 5-10 ml which is good since he hasn't performed with the bottle for 3 months. Almost rolling over - something he mastered long ago before he became so ill. We are waiting for a tooth, but he has grown more hair, dark hair! Abram remains a happy guy, smiles and laughs a lot. Pretty laid back and not real picky, loves to be held and talked/sang to. He keeps us busy with feeds still every three hours but is on a lesser calorie formula which he tolerates much better. Not vomiting but maybe once a day or less and usually due to mucous more than the formula. We are having a meeting with a surgeon to discuss a Mic-key button for his stomach so we would feed him through his stomach and get the tube out of his nose and off his face. I think he would appreciate this, I know I would - no more 3 am tube placements. As you may read Barth Syndrome is very rare and there is not a whole lot known about it. There is no cure or treatment, the treatment is treating the symptoms/conditions the Barth Syndrome causes. We are getting in touch with some other families that are affected by this disease, none of which live close to us but it's nice to know other's who are dealing with the same disease.

It's been some time since the last post so I thought I would type some quick updates. Nothing too exciting has occurred. We are waiting on the genetic test for Barth's and expect that to be here sometime in November. We visited with a new geneticist who suspects Abram does have Barth's Syndrome, is running some blood and urine tests to confirm a "clinical diagnosis" while we wait for the "genetic diagnosis". I am learning genetics are very complicated, so if Abram has a mutation on the "Barth's Gene" it may or may not be called Barth's. . . Abram continues to gain good weight and is above average in his age group for weight, but still at 3% for heighth...this would explain the Barth's Syndrome size status (typically shorter and smaller). Abram had another echo and his heart shows no more improvement, but no worsening. We continue to meet with GI and discussed possibility of a g-tube in the future (tube that goes directly in the stomach rather than down the nose). We are a little tied on this, there are pros and cons to everything. We are waiting on hematology to come up with a plan to treat Abe's neutropenia so we can start living again and be around others. Starting with occupational therapy to help with getting back to oral feedings, and have a swallow study planned sometime in the future before we can even consider oral feeds. The GI doc wants to make sure he is not aspirating because he chokes while he drinks. We are reading about Barth's and feel this is a probable diagnosis. So much to know as it's a very rare and complicated illness, which may mean future trips to a different state to see a doctor who has treated boys with Barth's since no one in the KC area has. Abram continues to be a content and happy guy. Very tired, napping frequently but keeps us busy as his feeds continue when he's sleeping or not! Tried a new med for vomiting but it made him vomit more, so we are reducing the calorie of his formula to see if that helps. He's currently on an increased calorie anyways for weight gain, and it's obvious he is not needing that!

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.

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...

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.

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!

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!

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!

The Chubster

The nurse was by today and Abe has gained 40 grams/day for the last 10 days. His goal was to gain 30 grams/day. He is now weighing in at 13.2 pounds and looking fatter than ever. WE are eagerly waiting for some muscle mass that has to be making it's way soon, especially the way that Abe kicks!