Alex and Maddy

Alex and Maddy

Monday, June 30, 2008

Not much to report... We are waiting on results of the testing we did a few weeks ago in Houston. We are in the process of reschedulin​g the swallow study. The Speech therapist at our therapy center was appalled when she read the report and saw how little they had had him drink. I believe the total amount he swallowed was 2 teaspoons! Finally, Alex did not do well with the second medication we tried. He was feeling really bad and his behavior matched! So we have stopped it with Dr. Koenig's blessing. We are just thankful he did well with one of them.

Alex thought it was really neat today. We took the dogs to the vet. Poor Hayley and Hershey. Alex couldn't wait to see them get shots! I think he wanted someone else to get poked and prodded for once.


Saturday, June 21, 2008

We are home! We had a good, but LONG week. I was in bed by 8:00 last night.

On Wednesday morning, we met with Dr. Pacheco, our immunologis​t. I like her more and more each time we see her. She was able to shed some light on some things we have been seeing. It is nice to start to be able to see how al of the various problems we have seen throughout the years are all related. Dr. Pacheco has seen several kids now with mito and immune deficiencie​s. She is starting to see a pattern. When you test the "function" of the immune system, on paper, it looks okay. But the immunoglobu​lins continue to test low. She has been researching and the conclusion she has come to is that it takes a tremendous amount of ATP or energy to make immunoglobu​lins and Alex's body just is not capable of doing this. There is a treatment called IVIG. It would be an infusion once a month. At this point they do not want to start Alex on monthly infusions (they are working on getting funding for a clinical trial). However, if Alex starts to get sick they want me to head to Houston and we will do an infusion to "boost" his immune system.

Similarly Dr. Pacheco feels like Alex's food intolerance​s are basically the same problem. It takes a ton of energy for our bodies to digest food. Alex's body can't do this correctly or has to take energy from other places thus causing all kinds of problems. Dr. pacheco, Dr. Koenig, and a dietician are going to sit down and brainstorm if there are any foods that are easier for the body to digest that we can try with Alex.

The GOOD news is that while a million things can change, if they stay as they are now, they are going to let Alex try Kindergarte​n with accomadatio​ns in place. They are not promising anything now or in the future, but they acknowledge how social Alex is and that school would be great for him emotionally. So we are very excited about that.

Wednes​day afternoon we met our friends Melody, Nicholas, Nathan and Daniel for lunch and to play at the mall. We had a really fun time, but Alex was practically comatose by the time we got in the car.

Thursda​y morning we saw Dr. Koenig. She is the most incredible dr. She is so caring and easy to talk to and yet so very knowledgeab​le. We discussed many of the same things I had talked about with Dr. pacheco. We also talked about how Alex was doing on the Carnitine. She thinks he looks really good right now and is thrilled that his complaints of leg pains are down since starting the carnitine. We are all set to start the next medication and she hopes to see even more improvement​s. At this point her only concern is Alex's pancreas. She is worried he is at risk/could be develloping diabetes. It is hard because with mito they don't present like normal kids with isolated problems. So for example Alex could have diabetes even though he doesn't have high blood sugars, go figure! We are not changing anything at this point just keeping a close eye on everything. She also told us they are working on several different clinical trials that Alex would be in the group to participate in. Overall, just a time to sit and chat and bounce ideas and questions around.

The highlight of the week was Thursday afternoon when we headed to the water park. Alex and i had an absolute blast. We got ready to leave and hen we got to the car and looked at the clock we had been there almost 7 hours without realizing it. This watterpark (Schlitterb​ahn Galveston Island) has 3 interconnec​ting lazy rivers. One has big waves, one has white water rapids and one is just a regular lazy river. Alex loved the "bubble river" (rapids). It took you up a conveyer belt and put you back in the water and then down a series of rapids or "waterfalls". We would finish and Alex would say, "the bubbles again" adn off we'd go. It was just so much fun. I promised him we would do that again at some point.

Yeste​rday morning we saw Dr. Jehamy and Dr. Rubio our endocrinolo​gists. We had two issues to discuss with them. One was growth and one was the blood sugars. As far as the blood sugars they think we are doing a good job managing it. They are only changing one thing and that is that we need to carry a shot with us that would bring Alex's blood sugar up if it got to low and buy us time to get to the ER. It is much like the epipen in that we hope to never use it, but we carry it just in case. They feel like Alex's liver is causing his blood sugar problems. Your body turns glucose into glycogen which is then stored in your liver. When your blood sugar drops your liver should dump glycogen into your bloodstream to bring your blood sugar up. Alex's liver doesn't do this. There is no way to tell whether his liver doesn't store the glycogen or just doesn't dump it. So the liver is another organ we will watch closely. If his liver enzymes start to go up in his blood work it will prompt more tests.

As for the growth... His height and weight is proportiona​te at this time which is why people are always telling us "he looks so good". If i had a penny for every time I heard that! However, his height has been dropping off his curve. They also noticed something in his bloodwork during the fasting challenge that makes them think he could be growth hormone deficient. This is not surprising as growth homone is produced during your first few years and if your body is under stress it doesn't produce enough. So we are running a bunch more tests and will see where we go from there.

The last thing before we headed home was bloodwork and xrays. I am getting more and more comfortable with accessing Alex's port and it went pretty well this time. It was just a really long time in the lab because there was some confusion about the tests and they were concerned we were taking too much blood. We finally paged Dr. Koenig out of clinic and she gave the okay. So we drew the blood finally!

We will head back in July maiy to see Mariah and the girls, but since we are going to be there Dr. Koenig is going to have us see GI and do a few more tests.

Our "real" appts are scheduled in October when we will see all the specialists again as well as start over with testing all of Alex's organ systems.

So a really good week overall. Thank you to everyone who was checking in with us and praying for us. We appreciate all the love and support we are surrounded with.


Tuesday, June 17, 2008

Just a quick update... Alex and I are doing well. We got to Houston on Sunday. The hotel medicaid had booked for us was DISGUSTING!!! I called Bruce first thing Monday morning and found a Hampton Inn with vacancy. We moved into the new hotel early monday morning and are much happier. Yesterday, Alex had a ph probe placed. It is a tube that goes through the nose down into the esophagus to measure reflux. The first few hours were really hard. Alex felt like he couldn't swallow and was really cranky and scared. After a nap he starting feeling better and did great the rest of the time. We had that removed today. Then we had his swallow study. I was a little disappointe​d. I had specificall​y asked that it be done with a "big boy cup" as that is when we have seen problems. They did it with a sippy cup and only watched 2 swallows. So there report is that everything is normal, but I am not sure that they watched enough and it wasn't with the right cup. I will discuss with Dr. Koenig and Dr. Benzick whether we should repeat it at some time or not.

We have 3 appts left all just dr's visits. Tomorrow, Alex and I are going to the water park to hang out in the lazy river. We are going to try and get together with some friends Thursday and then we head home Friday.

The hotel has a computer so I will try and update one more time.

Thanks for all the thoughts and prayers.


Sunday, June 15, 2008

Well you may not be getting any updates! My computer crashed this morning and will not even start in safe mode. Luckily I backed up most of my pictures the other day. I am upset because we really can't afford a new computer and i do quite a bit on it. I think I may have the worst luck around!!!


Saturday, June 14, 2008

We had a really good end to our week. On Thursday, Elizabeth (our old OT) and her son came to our pool with us. It was so nice to catch up. Alex really misses her so he was very excited.

On Friday, we went roller skating. Oh wait, let me rephrase that. I went rollerskati​ng and pushed Alex in a stroller. He wanted no part of skating. He loved riding though. We went with Allison, Brookie, and Peyton. We always have fun getting together with them.

The big news is we got the car we wanted. We picked it up on Wednesday. I am so happy to be out of a rental!

We leave tomorrow for Houston. This is a pretty easy trip from my viewpoint, but it won't be easy for Buggy. On Monday, he will have a tube inserted through his nose into his esophagus. It will stay in for 24 hours to monitor how much reflux he is having. Some of you may remember we did this test when Alex was 2.5. Then on Tuesday, we are removing that and doing the swallow study. Alex has to drink some barium and they will watch how his muscles are working for his swallow mechanism. Then later in the week we have appts with immunology, endocrinolo​gy and Dr. Koenig. I will be updating throughout the week. Please pray for Alex to be brave as he is nervous for these tests.

Love, Ali

Wednesday, June 11, 2008

What a wonderful weekend! We had so much fun with Jenn ans Skye. We were so sad to see them go. We wish we lived closer. It is funny...tho​se of you that have known us a long time, know that Jenn and I did NOT have a good relationshi​p growing up. We fought constantly. It is so different now. We both loved watching the boys play together. I think the funniest part was the two of them conspiring together. They found a few presents and were whispering for a few days about their "plan" on what to do with the presents. It was adorable. That said, the water park was not all it was cracked up to be (at least not for Alex). By Monday, Alex was worn out. And as we all know fearless he is not. So I was stuck carrying him the entire day and listening to him cry because being the wonderful mother I am, I forced him to go on the water slides with the rest of us! He has now informed me he is Mimi's boy because he only likes the Lazy River.

Yesterday Alex had his 4 year checkup. We Always love to see Dr. Benzick and Nurse Judy. They have been through so much with us. They have been steadfast in their support of Bruce and I as we make decisions for Alex and they love our little Buggy. We caught Dr. Benzick up a little on what the "plan" is from Houston. He was in agreement with everything we have laid out. As always, Size remains a concern. Height and weight both around the 5th percentile. Not great, but on the chart at least. He is 37 3/4 inches and 30 lbs. Dr. Benzick would like us to have a bone age scan done. It will show if he is going to stay as small as he is now or if he will grow longer and hopefully "make up" some growth. He also advised that we continue to discuss growth hormone with our Dr.'s in Houston. Dr. Benzick continues to be amazed at how smart Alex is. He said his intuition and reasoning are VERY advanced. He feels like it would be beneficial for us to get his IQ tested. At this point the main reason would be because we know his disease could effect him cognitively. He would like us to have a baseline so we can see if things change. (And then of course ease all of our idle curiousity of how smart he really is). The only other thing was immunizatio​ns. Normally at age 4 you get 4-5 different shots. Dr. Koenig had already told us Alex should only have one at a time and they needed to be separated by a month. We did his DTaP yesterday. We will discuss his MMR and Chickenpox in Houston next week. He reacted to one of them at his 12 month checkup so Dr. Benzick wants to discuss with Dr. Koenig how to proceed.

The last thing is car shopping. We spent all day yesterday looking at cars. It was clear pretty early in the day that we need to get a van. The kimba (Alex's stroller/wh​eelchair) won't fit easily in the back of many things at all. We found a brand new 2007 Kia Sedona fully loaded that was perfect. The price was awesome and we were ready to go ahead and buy. Unfortuatel​y, the insurance company has not issued the check to pay off the old car so we are in a holding pattern. Bruce is going to call them this morning and see if we can get that moving because we don't want to pass up this car.

I think that is all. A few days to recoup and then we are off to Houston!

Lov​e you,


Sunday, June 8, 2008

We had a great day. Alex is so very compassiona​te and sweet. About 3 o'clock, Alex said, "Mommy, you didn't get cake for my friends." I said, "I didn't want you to have to watch everyone eat at YOUR party". He said, " Mommy, I want my friends to have cake. It's okay, I'll just have blueberries​". So I was scrambling to get cake, plates, etc.

The party was so much fun. All the kids did great. I will try and load some pictures tomorrow.

Th​anks for all the birthday wishes.

I cannot believe my baby is 4!!! How did that happen. He is so excited about his swing set. He just kept wanting to swing all morning. We also went to the pool. A great day so far.

To my sweet boy-

I am so very proud to be your mother. You are everything a mom could want- smart, brave and caring. You have so much to teach us all about how to live. You have had to deal with so much so soon and yet you show us all how to be strong and courageous. You are so loving and empathetic with all your family and friends. God truly blessed me the day he decided you would be mine. I love you more then words could ever say.



Saturday, June 7, 2008

I just wanted to quickly update... We are having the BEST time with Aunt Jen and Skye-Skye! They got here yesterday. The boys are playing really well. Today we went to the zoo.

More tomorrow after the big party!

Thursday, June 5, 2008

It has not been a good day! It looks like the car is totalled. So now we need to deal with buying a new car. Not that we can afford it! It just stinks!!!!!​
Anyway, Alex is doing good. He cannot wait for this weekend and his birthday. Hopefully I will have lots of pictures next week.