Thursday, January 14, 2010

Grab a cuppa...it's a long one!

We had Max's metabolic check-up today. It was an early appointment, 9:00am...not terrible, but just getting up and out of the house that early is a pain. Max didn't want to wake up until 8:00, and even then he was pretty bummed to be out of his cozy bed!

I had called ahead to make sure we got back to a room right away, so we weren't waiting in the waiting rooms. Thankfully we were taken right back, and just had to wait a few minutes. While I fed Max, we went over all the usual questions the new students have to ask before they take the info back to the doctor, before meeting with us.

Then she said she would go talk with the doctor...but she said a name we didn't know. Grrrrr....a new doctor. Let me say here, our doctors are great. They all work together, and one main guy is the decision maker. But when we get new doctors, more often than not, they want to change things up. And we don't like fixin' what ain't broke!

Steve was getting bristly...I was getting quiet, bracing myself. I did not feel like being defensive today. I just wanted to see our doctor, have a great report and leave happy. We sat waiting for the doctor to come in, and to keep Max from getting fussy, used the fantastic ipod touch to play his opera music.

The doctor came in after about 15 minutes of going over Max's current history with the genetic counselor student, and introduced himself. Max immediately perked up. He had an accent. Max loves accents.

He shook our hands, and then introduced himself to Max. This was different...he was actually talking to Max, and waiting for a response. Then he asked Max what he was looking at, which we answered. He's listening to his opera. Oh....opera! New doctor loves opera. So he asks Max who his favorites are. Waiting for an answer from Max, and when Max answered with "yeah". He gave him some choices of his favorites, and Max answered again with "yeah, ah-ah-aaaah!".

We were warming up to him real fast! He looked over Max's last labs and wasn't worried about any of them. He didn't want to change anything, Max looked great. He's been healthy, so we didn't need to change any of his treatment. And he was going to check with the main doctor about increasing medicine doses due to weight gain.

Oh...yeah. Weight gain. The boy is a whopping 57 pounds. And he is a half an inch short of 4 feet tall.

It was a relatively short visit. Now alarms going off, just encouraged with his weight gain and overall health. And we got to meet a new doctor, that massaged Max's feet through the entire appointment. Because, being from Germany, he told us they are really used to a lot of different ways of treating, not just through medicine. But through massage, and acupuncture and maybe even opera, he said with a wink. I liked this new doc, and Max really liked him too.

When it was time for him to leave, the student said she would go ask our usual genetic counselor about a lab test they were thinking about doing. We waited for an answer, and our regular genetic counselor came in. She exclaimed when she came into the room, "MAX!!! YOU'RE HUGE!!". She asked him how he was, and if he was listening to his opera. And he was answering with his special language. When she said, "You look like a big kid, not a baby!", Max answered, "Yeah, aaaw aaay-eee! (Yeah, not a baby)" And she understood what he said, she repeated it back to him, and she turned to us with a red nose and tears in her eyes, "he is communicating!". It's special because she's known him since he was 4 months old...and has seen him through all of his ups and downs.

After she was in there for a few minutes, the nutritionist popped in, and again shock and awe! Last time we saw her, he didn't have his g-tube. She worked so much with us to keep him from getting the g-tube. But she was thrilled at what a big boy he is now!

They asked if we had seen the head honcho, yet. We said we hadn't...and didn't expect to. He really doesn't see patients much anymore in the clinic. And we're okay with that...he still makes all the treatment decisions. But, he also hasn't seen Max since before we left for England, almost 2 years ago (really...almost 2 years?)

So they ran and found him to come see Max. When he walked in, it was a very different reaction. He greeted us with his quiet Belgian accent. Then looked at Max and smiled. And shook his head, looked at us and simply said, "he is very big!".

Then he got right to work, doing what genius metabolic doctors do...doing what he did the first time we met him 6 years ago. Examining Max...even though we had just had a thorough examination...and our appointment was officially over. He still looked him over, as if it was the first time seeing him. And of course, we let him. Max is alive, largely due to this man diagnosing him...examine away, man.

After he gave a good lookover, and tested his strength, he started spouting off 5 or so different tests he wanted ran right away. (Remember...after our appointment.) He wanted us to do a brand new study, that the doctor we had seen earlier was heading up. Okie dokie. Then wanted a few other tests run by NIH next time we were there, or before we actually get there, we'll just have to give consent for them the run the tests.

A side note...as to the very technical part of Max's metabolic disease, we have yet to find the mutated gene that would definitively give him the diagnosis. Right now, he has MMA Cbl-C, because it fits better than anything else. So we are always looking to really pin-point EXACTLY what he has. Won't change treatment, likely. But it will just help us know definitely, and for future kids.
I was really glad he stopped by to see how big he's gotten! We may come out of it with more answers.

And they all were ready for us to head back to NIH. We're hoping to get that done in the summer. We want to take Abbey this year, and make a little trip out of it.

All in all, it was a great visit. We got all caught up with everyone. And got the ball rolling on a few new things. Now we're home and boy I'm tired! But, the week isn't done...equipment guy comes tomorrow to work on Max's stander tray, and look at new seating options since our moose is outgrowing everything he has now!

And if you've read all the way to here...you are my favorite.

5 comments:

Vijay said...

Love you guys. max is getting big and huge. Am glad all is well with Max. Hugs

Maria Hopfgarten said...

Hi Deana,
I am glad it went well today! It sounds like a good appt., and you even got to see the man!
I am hoping we will have an equally good appointment on Tuesday. We'll see!

Take care, Maria.

Lori Sanchez said...

I read all the way "to here" :) so happy things went well and you got to see the "man", he's great isn't he? Vince is alive today because of him too. Lunch soon k? or breakfast. I didn't know you had this website until I just saw your post on the OAA list!!! its great!
Lori

Lori Sanchez said...

I read all the way "to here" :) so happy things went well and you got to see the "man", he's great isn't he? Vince is alive today because of him too. Lunch soon k? or breakfast. I didn't know you had this website until I just saw your post on the OAA list!!! its great!
Lori

Deana said...

Vijay, love you too! Can't wait to bring our big Monsta-Mobile to California and we can just all pile into and go for a vacation at the beach!

Maria, It sounds like you did have a great appointment too. Hoping you're having a great time with your dad!

Lori, I'm glad you made it over here! I'm ready for a breakfast/lunch/dinner! If it's a weekday, maybe I can bring Max this time!!!