Thursday, August 27, 2009

Home from Houston

We left early Monday morning for Houston. Kylie was really excited to fly on the plane since she doesn't remember being on one when she was 9 months. I remember it all too well however! She cried most of the time and passengers were giving me tips on how to get her to stop crying. (insert eye roll here) This time however Kylie did fine while Emeric was the bearer of plenty of loud noises. Mostly random screeching.

We landed at 12:30pm Monday and headed to check into our hotel. We had plans to go to the zoo and decided to go right away because it was supposed to rain the next day. It was pretty hot so Emeric was tuned out most of the time and not nearly as excited about the animals as last time. Kylie had only ever been to a zoo once so she was excited! I took her in the reptile exhibit and showed her all the snakes. We saw one(at least 10 feet long) lying in the water and Kylie looked at me, very surprised and said, "Mom, is that snake waterproof?" I laughed and said it looked like it was.

After the zoo we headed to the mall, which I was very proud to find on my own. Well, and with a little help from Mapquest. Houston is the 4th largest city in the U.S and I'm not exactly used to driving in big cities. Minneapolis doesn't even come close!

Tuesday morning we got up and left right away for our appt. A nurse weighed and measured Emeric and asked if we were from Michigan. I said no, we were from MN and she said, "Oh, I grew up in MN and I knew from your accent you were from somewhere up there!"

I thought for a split second about throwing her off with a few "ya'lls" but I didn't. And only because it was just her there so referring to her in the plural sense didn't seem right, not because it's completely unheard of for me(or most Minnesotans for that matter) to use ya'll. I have thought about starting though. It seems cool.

Anyway...

The appt. went well. Thankfully this time there was only one med student with instead of 5 so that meant only having to explain everything twice instead of 6 times! If you read Emeric's caringbridge than you've already heard what we found out at the appt. so in that case feel free to skip down. :)

All of the tests that we ran after seeing Dr. Koenig in February were normal. She thought that because his B12 levels were so low that it was possible he had primary deficiency in being able to metabolize B12. Since this isn't seen commonly with mitochondrial diseases she believed there was another primary condition going on. She doesn't believe this anymore. Mostly because there's a criteria used in determining if a person has a mitochondrial disease and Emeric qualifies as having a "definite mitochondrial disorder" under this, very specific, criteria.

Because mitochondrial diseases are relatively new much is still being learned about them. The muscle biopsy has always been considered the "gold standard" in terms of diagnosis and only recently are doctors realizing that not all patients with mitochondrial diseases have abnormal muscle biopies and if they are abnormal it isn't always in the way first thought. That's true of Emeric. His biopsy is abnormal but not in a "typical" way so that threw them off. However, because he has involvement in more than 3 organ systems, has lab abnormalities that prove the mitochondria aren't healthy and changes on his muscle biopsy they've determined that this is likely a primary mitochondrial disease.

Dr. Koenig did say that maybe 5 years from now Emeric will present with a new symptom that will lead them to find a different diagnosis but it's unlikely because he fits so well with a Mitochondrial Disease. Also, the doctor was hesitant initially to diagnose him with a primary mitochondrial disease because then doctors stop looking for all other conditions but now they have tested Emeric for everything they can think of and he has none of the diseases they've been looking for.

What this changes is that it means we stop looking for potential primary conditions and assume that the mitochondrial disease IS the primary condition. We approach it mainly from the standpoint of managing symptoms.

I trust Dr. Koenig because she has been very cautious in diagnosing him before she really felt 100% sure.

So, our official diagnosis is still Mitochondrial Disease but without the "unknown metabolic disorder causing secondary mitochondrial dysfunction". Hopefully that makes some sense. I know it's all really confusing!!

Prognosis is still largely unknown. Mitochondrial diseases are considered life threatening and life limiting. There is no cure but the diseases, while progressive, progresses much differently in everyone so there's really no way of saying at this point what it means for him long term. It does mean this isn't something he will grow out of and it is an explanation for all of his issues.

For now, I'll leave it at that.

I also got a call while I was there from Kaydence's pulminologist. She was on antibiotics for 6 weeks for chronic sinus infections. A few weeks after the antibiotics were stopped I felt like she had another infection so we took her in for another x-ray. Turns out she does have another infection. So, she is on antibiotics AGAIN and steroids for 6 days. She will see the doctor in a few weeks and he's assuming she's going to need her adenoids removed. Let's hope this is the case because if it isn't her adenoids causing the problems it's likely a more complicated problem to try to fix. I'm going to stay hopeful that it's her adenoids and that once removed the infections will stop and in turn this should help her asthma.

So, we left Houston with a lot of appt's! Emeric needs to see a nephrologist for his kidneys because there may be a potential issue with his kidneys(we've seen some suspicious things in his urine tests), he will have tests done and sent to an immunologist because there are some "off" things with his blood, he will have a hearing test done, see an opthalmalogist to check his eyes again just to make sure everything is still healthy and he'll have a blood test done to potentially determine genetic inheritance of the mitochondrial disease.

Kaydence has an appt. next week and then in 3 weeks with the pulminologist.

One funny thing... When the pulminologist called he said he would call in a couple prescriptions for Kaydence. He asked the name of our pharmacy and I told him and then gave him the number. He said, "You know the number by memory?" and then laughed. I told him that yes, unfortunately I do!

All in all our trip went well. We did nearly get into an accident when a car was trying to get into our lane. I ended up swerving sharply to miss her and veering to the side of the road in the grass. She pulled over, very upset as was I. I don't know how I even saw her coming into our lane but we were going nearly 70 mph so had she hit us I don't want to imagine what would have happened!

Needless to say I have much more on my mind than I can process so at the risk of ending up with a 12 page blog post I'll end this now!

2 comments:

ben and erin said...

whew! LOTS of info in there! i do have one question though. since you were saying that he is diagnosed with a primary disease being mitochondrial disease now, does that mean that he may not have epilepsy? just a little confused about that!

wow i hope kaydence feels well soon. and that removing her adnoids helps. did she go to houson with you? did y'all go? (hehe.. you should start saying y'all... i do all the time now!)

glad to hear you guys had a good trip... and also thankin Jesus that you apparently had some angels watching over you!

Nicole said...

Kaydence didn't go, just Kylie. Kaydence walks SOOOO slow it would've been a nightmare dragging her through the airport! LOL

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