Thanks for all your prayers. Alex seems okay this morning. I will keep a close eye on him today. I think he may have just gotten overheated outside yesterday. Normally, when you get hot your core body temp does not rise. However, we all know that Alex's body doesn't do "normal"!

We are heading for Houston on May 15th. The 16th will be pretty crazy. We have an endocrinolo​gy appt at 8:00, a GI appt at 10:45, a hearing test at 12:30, and a neurology appt at 2:00! How's that for a day! I am glad to get everyhting done at once so we don't have to be away as long, but we will be wiped out after that day!!!!

Ali

Please say a prayer for Alex tonight. He has a fever. It is the first time he has been sick since we confirmed the mitochondri​al disorder. Fevers are a big deal with this disease. Say a prayer that the tylenol keeps it under control.

Ali

Just a quick update... Alex started horseback riding last night and LOVED it. He actually got to go on a trail ride for 45 minutes. He did a great job.

We are scheduled to see Dr. Koenig on May 16th. I am waiting to hear what else we have planned and how many days I will be staying. I know we are planning on doing a hearing test.

I'll keep you posted.

Ali

Here is a basic description of mito:

Mitoch​ondrial diseases result from failures of the mitochondri​a, specialized compartment​s present in every cell of the body except red blood cells. Mitochondri​a are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Dise​ases of the mitochondri​a appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Dep​ending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-inte​stinal disorders and swallowing difficultie​s, poor growth, cardiac disease, liver disease, diabetes, respiratory complicatio​ns, seizures, visual/hear​ing problems, lactic acidosis, development​al delays and susceptibil​ity to infection.



Wednesday, April 23, 2008 8:19 PM

I'll start with a few positives. We went to the zoo today with some of our friends. We had so much fun. I am so thankful to have friends who we can relax with and have some normalcy in our lives. Alex loves to be around his friends. And I love to watch him be a "normal" little boy.

Yesterd​ay was the big day...I had to draw blood off Alex's port for the first time. I was really nervous. Noone wants to have to stick their child with a needle. BUT we did it. Alex and I both survived no worse for the wear. I think each time will get easier.

NOW FOR THE BIG NEWS!!!! We got results. Alex has a Complex III Mitochondri​al disorder. It is not what anyone would hope for, but I am so relieved to finally have answers. I can stop searching after nearly 4 years. I don't have a ton of details right now. We will go to Houston sometime in the next month to sit down face to face with Dr. Koenig and talk about what's to come.

Thank you to everyone for all your prayers and support. They have help us up at our lowest and comforted us through rough times. We appreciate and love you all.

Ali

Hi everyone! We are having so much fun in NC. We always do! First we spent 5 days at Mimi's and PopPop's. Aunt JennJenn and Skye Skye came also. We got to see Aunt Ginger (My mom's sister) who we haven't see in over ten years. It was great to see her. It was amazing to have me, mom, Jenn and Ginger all together. There are so many similaritie​s. Alex LOVED Aunt Ginger. he kept wanting her to play with him. And you all know how much Alex loves his Mimi. We haven't see Jenn ans Skye since October. The boys weren't too interested in each other then. It was really fun to watch them play together this time. Alex loved being "the leader" for once. With our friends at home he is the youngest and smallest so he tends to follow what the other kids are soing. With Skye he took charge. his Bossy side definitely came out. It was nice to see some confidence though. He keeps telling everyone that Skye kept wanting to have picnics and he didn't want to.

Since being at Dad's we have stayed pretty busy. Over the last six months Dad and Alex and formed a really nice relationshi​p. Ever since Grandpa came to stay with us in Cincinnati in November Alex is much closer with him. He will even hold Grandpa's hand and climb on his lap and kiss him. Yesterday, we went to my old school (where i taught for 4 years). It was fun to see lots of my old friends. Alex loved "going to school". He was chattering away to everyone he met. You all know Shy he is not! Then yesterday afternoon, Lisa, my old college roomate, came over with her daughter and we went to the park. It was a really nice day. Poor Alex was exhausted. By 3:00 he was asking to get in his bed. I woke him up at 5:30! Tomorrow we are meeting with up with Michelle, Cooper, and Gabbi. For those of you who don't know...Mich​elle and Coop were are first and closest friends in TX. Alex and Coop were attached at the hip from the minute Alex was born. (I actually started hanging out with Michelle while I was still pregnant). Last April, They moved back to NC to be by family. Alex still asks to play with Cooper and whenever we drive that direction in town he asks if we are going to Cooper's house. So we try and get the boys together whenever I am here.

Alex and I fly home bright and early Sunday morning. We have a busy week. Tuesday we have swimming and Ms. Fran (our nurse) will be with us. I also have to draw blood off Alex's port that day. (Please pray for me to get it on the first try.) Wednesday we will go the zoo for the day with all our friends. Thursday, Fran will be back and we start riding! So by Friday Alex and I will be passed out.

Hope everyone is doing well.

Ali

If you hear crying or yelling, it is coming from NC! Last Thursday, I got a call from Dr. Koenig. Alex's Familial Dysautonomi​a test was negative (as we expected). She though the muscle biopsy results would be back in about another week. She asked me to call them today. Gayla (Dr. K's nurse) called this afternoon. The results will be another 2 weeks! I am so tired of waiting. So say a prayer for the lab to get the results soon.

Ali

We are in NC. I just wanted to let everyone know that we finally heard from SpiritHorse Therapy. We are starting horse back riding on April 24th. Little Buggy is going to be quite busy. We now have Occupationa​l Therapy on Monday, Physical Therapy in the pool on Tuesday, Physical Therapy on land on Wednesday, and Horseback riding on Thursday!!!​
Ali

This is going to be fast... Alex and I leave tomorrow to go visit my family. We will spend 5 days with Mimi, PopPop, My Mom's sister, Aunt JennJenn and Skye Skye. And then 5 days with grandpa.We are excited.

We have had a nurse the last two days!!!! Ms. Fran has been wonderful. Alex loves her. I have been trying to show her how I do everything so when I get back I can get out by myself a little. It is hard for Alex to let anyone else do things for him. He wants Mommy to do everything for him.

Hopeful​ly my next update will be with test results! Pray for our safe travel.

Ali

We're Home!

One quick update...AL​EX POOPED ON THE POTTY!!!! For those of you who don't know Alex has been potty trained since October, but b/c of his severe constipatio​n is scared to poop.

I don't know who had more fun, me or Alex! We had a blast yesterday. Alex loved "his girls". I think Brookie may have competition. They kept hugging and kissing and telling each other they love each other. They ran and played and laughed ALL DAY. I asked him this morning what was his favorite thing about the girls and he said, "they have buttons like me".

Mariah and I felt like we had known each other forever. There was no awkwardness at all. We talked and talked. We are already talking about when we can see each other again. Our plans today are to go to the zoo and then back to the hotel to swim.

Alex and I will head home tomorrow. I have a ton of pictures!

Ali

I haven't been updating because I really have no news. We are hoping and praying for the muscle biopsy results this week as well as one of the genetic blood tests.

Alex had his first physical therapy appt yesterday in the pool. He LOVED it. He grinned from ear to ear the entire session. We have decided to do PT in the pool every Tuesday. We are going to try and do a short PT session Wed. mornings, but if it is too much we will cut it out. It was nice to see Alex so happy. I don't think he even realized he was working.

I forgot to tell everyone that we did cancel the trip to Cincinnati. We are reschedulin​g for August/Sept​ember. That will give me time to see if we need to continue to go there or are comfortable with the GI in Houston.

Spe​aking of Houston...T​hat's where Alex and I are! Most of you have heard me talk about my good friend Mariah. Mariah and I met online and started talking in 2006. It very quickly turned into a really special friendship. She is one of my dearest and most trusted friends. She has twin girls that are the exact same age as Alex and a new baby. Her girls are very similar to Alex. Mariah and I have a bond I share with very few people. Her and her husband were coming to Houston to have the girls seen by Dr. K.We decided 4 hours was too close to let the opportunity pass to meet in person. So Alex and I are on a mini vacation. We have a few fun things planned for the kids. We will be home on Friday.

Ali