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!