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.