Genetics

After about a two month wait, we finally got to go to the Genetic doctor. I had no idea what to expect. The facility is located on University of South Alabama. I have never drove in Mobile, so I was nervous for that. Our appointment was at930 AM, so I figured we'd hit rush hour (rush hour in Mobile is a piece of cake compared to rush hour in Chicago & Phoenix). I woke Matthew up at 700 AM. I was hoping he'd sleep in the car...nope...but he was in a great mood. He was giggling in the back seat.

The RN took us to a room and gathered Matthew's history. She weighed and measured him...30 lbs, 36 inches. The Dr came in and did a physical exam, gathered a bit more history and discussed our next steps. They need a DNA sample (blood) from Matthew. He said that we may have results within 3 weeks. He said that might not tell us if it is genetic, though. It MAY just show a mutation in his gene that caused the Infantile Spasms. If they are unable to determine if it is genetic, they will need to test Chris and me.

They wanted us to follow up in 3 months, but we will be living in Arizona while Chris is deployed. We will communicate by phone and follow up in 4 months.

We had to drive to a hospital (Univ S. AL Women's & Children's Hospital) for a blood draw. Matt's never had a blood draw from the veins in the arm. Before when he needed blood, they were able to prick his foot and get a sample that way. We had to register at the hospital in admission..which I thought was strange for a lab draw. I didn't understand why we couldn't just give them my insurance card, but they now know my work address, Chris's work address, etc. Anyway, we go to the lab and two ladies get Matt ready for lab draw. I couldn't see what was going on because they were standing next to him lying on the bed. I didn't want to see him get the labs. I hear Matt start to giggle. I hear the ladies say, "look at his smile". He's flirting with the ladies. He didn't even cringe with the lab stick...they had 6 tubes to draw, too. He did great. He did better than me.

EEG & Kirghizistan

Yesterday we had another EEG. Our last 2 EEGs (10 days ago& a month) showed hypsarrhythmic which is a symptom of Infantile Spasms. We started the ACTH a month ago to treat this irregularity. His EEG yesterday showed that he no longer has hypsarrhythic EEG. The ACTH worked. Now the question is, when we discontinue the ACTH (it will take a month to wean him off) if his EEG will change.

His EEG still showed that seizures are present. We increased his Tegatrol and we are planning on still going to Children's Miami because as the doctor put it, "Matt's a tough case". We have no idea if we'll do surgery or if they'll just give us a second...well, third opinion.

April 20 Chris is being deployed for 120 days to Kirghizistan. Depending on where we are for Matthew's treatment w/ Miami, Matt and I will plan on going to Arizona (and stay in our house that never sold). Chris's brother is planning on moving to Arizona, this was announced last week. Now that Chris is leaving, all the more reason to go. I will have friends, family, support, an actual Air Force Base (not Navy like here) and access to Children's Hospital Phoenix. Our friend is renting our house and will be able to help me as well.

March 2009

We have been on the two injection for a week now. Although I have seen some improvements, we still see some seizures. He is pretty moody, which is a big side effect. He is sleeping pretty well at night, it takes him until about 11 PM to fall asleep, but he is sleeping though the night mostly.

He has had an increase in appetite and elevated blood pressure. I take him to the Naval Hospital to his pediatrician's office to have his BP checked. Last Tuesday it was 134/75. The RN told me normal BP for a little guy is 100/60. I went the next day and his BP was normal. We'll continue to keep an eye on it and continue to get it checked.

Matthew's moods pretty much consist of whining. If I hold him, he does better. However, it's really hard to hold and cuddle a 30 pound little guy all day long. But, we do what we can.

We have our next EEG next week and we'll try to figure out the next step in our game plan while we wait for Children's Miami to contact us regarding the referral.

Matthew continues to work on his development. He can hold his head up for short times when we help him sit up. This is a HUGE step forward for us.