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 immunologist. 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 deficiencies. She is starting to see a pattern. When you test the "function" of the immune system, on paper, it looks okay. But the immunoglobulins 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 immunoglobulins 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 intolerances 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 Kindergarten with accomadations 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.
Wednesday 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.
Thursday morning we saw Dr. Koenig. She is the most incredible dr. She is so caring and easy to talk to and yet so very knowledgeable. 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 improvements. 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 (Schlitterbahn Galveston Island) has 3 interconnecting 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.
Yesterday morning we saw Dr. Jehamy and Dr. Rubio our endocrinologists. 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 proportionate 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.