Where do I start?!? Well....between travelling to Atlanta 4 times less than 8 weeks, putting together a charity golf tournament for Ian and his cause, and only 2 months underway at my new job....it's been a whirlwind around here! We drove to Atlanta yesterday for our 6 (7) month follow up appt with the geneticist...who specializes in mito. She has moved to a new office and is at Emory Genetics Dept, and has so much more to offer her patients. They have a genetics counselor, nutritionist and various other people on site to assist us and her. On our way to Atlanta...we received a phone call from the nurse with the GI office. She stated that the xrays we sent to them looked good but she wanted to start Ian on Benefiber and stop the apple juice all together!?! I shared with her that those were the exact instructions that the Dr. had given us when we were there 12 days prior and that he was still having episodes of diarrhea. She said that she would check back with the doctor and call us back. Well, she did and said that the doctor wanted to schedule an manometry study. FINALLY! It's not too invasive and it will hopefully help us get the answers we have been searching for...for over a year now with his diarrhea. This test will check the muscle contractions in his colon/large intestine to see how or if they are working properly and see if this is what is causing the diarrhea. She wanted to do it in a week or so, but we just can't. We are extremely worn out from the 4 trips to Atlanta and we wanted to wait a couple (or few) weeks before we returned there. So...we are awaiting a call from them to schedule it. We met with the geneticist and gave her an update of all that has been going on. She asked if the creatine was helping and we couldn't say either way if it has helped. She wanted to check his blood/urine levels to see if any adjustments needed to be made in his vitamin/medicine cocktail and go from there. She did confirm that Ian did indeed have low muscle tone in his arms, legs, hands and feet. We knew it...but after going to PT and them working with him and then d/c him...we had hopes that he was better. Well, the doctor said that we can do that to help him do the best we can with it, but we can't retrieve was is lost or was never there. The low tone will get worse, we just don't know when. Also the fatigue has been really bad lately and she said that we can't do much for that as well. It's a given fact that these kids don't produce a lot of energy, therefore they continue to be tired...a lot. She did say that we may adjust some of his meds depending on the outcome of his labwork and may add cornstarch to his diet...which is a complex carb and may help with his energy levels...but we are going to wait until after the manometry test before starting that. I have to run to the golf tournament but I'll update more when I get back. That was the quick info on our trip yesterday. :) 5/9/08 P.S. In my hasteness to type this yesterday...I had so many typos, so I've gone back in and edited it a little. I can type and spell... REALLY...I just get in too big of a hurry and don't proofread my typing! :)
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