We headed to Mayo last Wednesday. My sister in law, Rhonda, came with me. We got to our hotel around 9:30pm Wednesday night and we were both tired. We watched the news for a bit about the bridge collapse and were thankful we decided to take another route instead of going on 35w.
We had an appt. with the neurologist in the morning. He wrote down a detailed history of Emeric's life and everything I had any concern over. He was awesome! He listened to everything and didn't say much other than scheduling some tests. He wanted a ton of blood, urine, an EEG, hearing test and consults with a dermatologist, gastroenterologist, geneticist, and ENT. We found out none of the consults could get done for quite a while so they told us the best thing to do if we needed them done right away was to get on their cancellation lists.
After that appt. we headed to the lab to have a bunch of tests done. The neurologist wanted a sweat test done to check for cystic fibrosis and that took about an hour.(It came back negative, just in case I forget to mention that later).
After the labs we ended up being able to get into dermatology right away. I don't know how you go from not being able to get an appt. for a month to being able to get one in the next 30 minutes!
We saw the dermatologist because of the birthmark on Emeric's scalp. It's called a nevus sebaceous and it can be related to neurological problems. The thing is, if it were, the MRI would've shown that. So basically it's completely unrelated. She does suggest getting it removed when he's around 12 because it can turn into skin cancer.
We left her office and went and had a picture taken of the birthmark. Not per my request, it was for them. LOL They actually were kind enough to send them to me! HAHA
We got out of the clinic around 4:00pm. It was a long day.
After we left Rhonda and I checked in to a different hotel that was closer to Mayo & then went and got supper. We did some shopping and headed back to the hotel. Our plan was to get to the clinic early Thursday morning and try to get those other consults done.
We got to the clinic at 7:00am and checked in for more blood work. We got that done and headed up to the 19th floor to see about getting in to see the gastroenterologist(GI). They told us they could probably get us in around 8:45am. Rhonda waited down on the 9th floor to try to get in to genetics. They ended up telling her we could get in at 9:15am! Crap! So, we decided to go with genetics since it was an appt. with 3 specialists and I figured it'd be hard to get into again. During this time we got a phone call that said they had a room for us at the Ronald McDonald house!!!
We met with genetics at 9:15am. They took a detailed family history & did a full exam, where they measure everything from distance of their eyes, distance of their nipples, to the length of their toes. Basically they're looking for anything that suggests a genetic disorder. After a 3.5 hr. appt. they weren't able to find anything obvious. They did order chromosomal tests to be done though and those results will be at least 2-3 weeks.
What their opinion was is that the B12 deficiency is causing problems. They found he was also anemic. They're questioning a possible metabolic disorder. Other than that we have no answers yet in that department. They scheduled a consult with a hematologist because of the blood issues.
After getting out of there at 1:45 we went and ate lunch & then went back up to try to get into the GI. We waited for almost 2 hours before they said we weren't going to get in.
So we left the clinic around 4:00pm and checked into our room at the Ronald McDonald house. It was so nice there! They give all the kids a quilt/blanket that local churches have provided. They had a full kitchen there so we were able to get some groceries and save money on eating out!
We didn't do much except be lazy and lie around. Which was a nice change since we were both tired. We did some shopping but Emeric was tired, it was raining, and we decided to just go back to the RMH. Emeric had a lot of seizures today.
Rhonda left in the morning and Jake and the girls decided to come down. There was a big play room & outdoor play area so the kids would have fun we figured. Emeric and I borrowed a stroller and went walking downtown in the morning and then I came back and put him down for a nap. Jake and the girls ended up getting there around 5:00pm. The girls thought we were at a hotel and wondered where the pool was! :) We went out for dinner & then came back and went to bed.
Emeric had an EEG scheduled for 7:30am so I got up early and took him while Jake stayed with the girls at the house. The EEG went well. They didn't have to sedate him so that was nice! They monitored him for about 30-45 minutes and then the plan was to head back up to the 19th floor and again try to get in with the GI. Well, that plan failed. There were no GI's until Wednesday! And even then they told us there would only be one so our chances of being seen were slim. UGH!
I decided to go back up to the ped floor and see if the neurologist would follow up with us anyway. He agreed. He went over some of the labs and showed us a few things here and there that were abnormal but nothing drastic. Really he didn't have any answers yet and wanted us to see the hematologist and then come back after that and see him again.
We saw the hematologist and she didn't think anything was drastic, just minor anemia & she thought the B12 deficiency was because of the Dilantin(one of his seizure meds). She said the two interact and it could be causing him to become deficient. I didn't really agree but whatever, I'm not the specialist. She wants him to get a multi vitamin everyday & start getting more iron in his diet. She said some of his red blood cells are abnormal but not "real abnormal". At this point I was a bit annoyed that everything was abnormal but not drastically enough to make a big deal about!
After seeing her we saw the neurologist again. He agreed with me that the B12 probably wasn't totally caused by the Dilantin but that it may be contributing. Basically he doesn't know what's going on. He said there are a lot of things but nothing "fits". He's not ruling out a metabolic disorder and as of right now the general thinking is that there is a metabolic disorder but basically no one can tell what it is! So, we go back in 3 weeks to see the GI and we'll see the neurologist again. Hopefully by that time we'll have all the labs back and we'll get some more answers. The other big thing was his cholesterol is really high. It's 248. Which is high, but for an infant it's ridiculous. That's another thing we don't have an answer for at this point.
We decided to wait until Tuesday morning to head out so we just went back to the house and got packed up.
We left around 10am and decided to stop in Minneapolis and take the kids to the zoo. It was SUPER hot and really muggy so it was pretty miserable. We only stayed for 2 hours. The kids were tired and sick of driving so the drive home wasn't the most fun. We got in around 8:30pm last night & Jake's mom came over to see the kids. She left around 9:30 and we put the kids to bed. I'm glad to be home!!
At this point I don't really know what to think. I'm hoping the neurologist will have some answers when we go in 3 weeks. I definitely agree with them that there's a metabolic disorder somewhere. The trouble is just finding it. There are some other possibilities too but we just don't have enough information yet to know for sure.
Along the lines of a metabolic disorder is something called Mitochondrial Disease. This is a possibility as well and he does fit the profile unfortunately. Of the two, metabolic conditions are better so I'm praying if it's one or the other that it's a metabolic disorder.
Well, I'm tired. Maybe I'll write more later. As if this wasn't long enough! ;)
Elevating Yogurt by Bridget
7 hours ago