We left out on Saturday to show Cade some of the sights on the way down to Houston instead of driving like crazy people. We stopped in New Orleans and went to the indoor aquarium there. We drove around downtown and saw some sights. It was 95 degrees so there was no way we could actually get out and explore. It was still fun and Cade had a good time. Next, we spent the night in Baton Rouge. Cade got to enjoy a full evening of cartoons because I had a headache and I took a nap while they lazed around the room too! That is more like Cade's perfect trip...hotel and cartoons and all the junk food he could eat! On Monday we headed to Houston but we took the scenic route and went down to the Gulf coast and rode a ferry over to Galveston. Barry was scared to death of the ferry but he ended up loving it! He even got Asa out of the car and Asa loved it, noise, wind and all!
As we drove into Houston that evening I was reminded this wasn't just some fun roadtrip. We had a purpose for visiting Houston and it wasn't fun. I think that is why I distract myself with planning off road trips so that I don't have to think about the actual appointment. I got nervous seeing the city rise up in front of us! It didn't get any better once we got to the hotel either. We stayed right in the middle of the medical district and were surrounded by hospitals, clinics and medical schools! And everyone I saw staying at the hotel was sick in some way. Many had masks over their mouths to keep the germs out. Many were bald from chemo. There were tons of wheelchairs, feeding tubes, chemo pumps, etc. I felt so sad that there are so many sick people but at the same time it made us seem normal to be there. It was odd and I'm probably not explaining it well so I'll move on!
A huge plus on this trip was getting to meet in real life a family that I've known online for years. We meet when Asa was just a few months old and all we knew was hypotonia (low muscle tone). I found a great support board and meet many great momas! It is surprising how many of us are now on the mito support boards though! Anyway, once we found out we'd both be in Houston for appts we began trying work out a meeting. Turns out that is harder than you'd think with so many appts and schedules and travel. We did get to chat a little in the appt but I've got a feeling we could have spent hours talking and sharing if our schedules would have allowed!! As we were leaving the appt. I recognized another family from the message boards. I haven't known them as long or as well but their little boy was unmistakable! Just another amazing family I got to meet in person! Barry and Cade were very patient with me as I chatted! They tell me I can go on and on but I must have done OK cause we still made it back to the hotel before check out!
So now the nitty gritty! We met with 2 med student first. At least I think they were med students. I need someone to explain the hierarchy to me, please. Anyway, we discussed with them the past year. We talked about the normal hearing test, normal vision tests, normal MRI/MRS, normal GI scopes, lots of good normals! Then Dr. K came in. She was glad he was sitting and bearing weight and taking steps with support. This time last year he was just learning to sit!!
So Dr. K came in ready to discuss some genetics. I confess I was obsessed with were this came from and how it happened for a while. Mostly because I was doubting the diagnosis. Since last year I have stopped worrying about the genetics cause there is nothing I can do about it now! But I was interested in what Dr. K had to say!! Asa has a genetic mutation that is likely disease causing but we can't say for sure because no one else has published this mutation. Asa only has damage to some of his cells, not all. I, however, had all mutated cells in my blood but no symptoms. Or so we thought! Dr. K said my lactic acid was elevated when I had bloodwork done there last year. Now this test is very sensitive and had to be drawn and handled properly. So I said "couldn't that be lab error" to which Dr. K immediately responded "well, we can redraw today and find out"! I walked right into that one didn't I!! So if I am a non-symptomatic carrier then it is likely Anna and Gracie are too. They'd need to see a geneticist before starting a family. Cade and Asa could be carriers (symptomatic or not) and not pass it on! There is still a chance any of us could have damage but it not be enough to show. That is the ticking time bomb to me. Every cough, headache, fever, fall, etc. will now be etched in my memory looking for a pattern or problem! I may be come the worlds biggest hypochondriac! Even though I've known this info for a while it was not fun hearing it from a specialist. But we do what we have to do and move on!!
When I explained Asa's episodes that our Vandy neuro called "autonomic dysfunction" and the GI called "possible seizures" she thinks they sound like seizures as well. I told her that Asa will get startled by something (wind, noises, elevators, new places) and will get sweaty, clammy, clingy, puke, and sleep. She said you can get set seizures off by startle and even got her student to slam the door, twice, to get try to scare Asa. It did scare him but he didn't get sick! I told her the wind on the ferry didn't set him off, nor did the dozen elevators we rode on this trip. It is unpredictable. So she ordered a 24 hour EEG to be done at Vandy sooner rather than later. I've been so scared of the seizure word and now it is out there and I'm OK. Partly because I'm not convinced it is seizures and partly cause you learn to roll with the punches!
On the plus side! She doubled his CoenzymeQ10 to 300mg per day. There are several mito clinics in the US and they seem to be playing guinea pig with us. Some give super mega doses of supplements, some choose only a few to give. One give really high doses of Q10 and there are clinical trials going on to see if Q10 can get FDA approval. So to have her double Asa's gives me hope that they are on to something and this may really help. We've been convinced it has helped Asa so I hope the 300mg will REALLY help!
We talked about getting the supplements covered and they are gonna send me a letter of medical necessity so we'll see how far that gets me. We talked about school and she is gonna send a letter for that as well. I'm not sure what that will be, I just told he was starting in Oct. and was there anything I need to be certain was brought up. She said she'd send a letter so we'll see about that too.
One of my questions for her from several months ago was about feeding. Since we were seeing no progress and it takes so much energy to eat and digest I wondered if it wasn't OK to just go with the pump and not worry about food. She said "NO"! Now,of course, he is doing so much better but I wanted to ask the question anyway. She said when he is 15 and wants to go grab a burger with friends, he'll be glad I made him work hard and learn to eat! So many positive statements in that answer!! I love her!!
As we were leaving a fellow stopped in and they want Asa to be part of a study. They finally got a research grant to look at slow digestion in mito kids. This is what we finally got our new GI to look at and the Reglan seems to have helped! Turns out it is very common in mito kids to have delayed gastric emptying. When Asa turns 3 they can do the scans in Houston and give us the info we need to treat him plus use the info to learn and help other kids! I see this as a win-win.
Oh, and of course we couldn't get out of there without having bloodwork done! 2 vials from me and 4 or 5 from Asa. Asa sat in my lap while she did me and then I held him so he could get poked. As she was getting ready for mine, Asa was happily playing with the tourniquet. When she tied it on my arm, he grabbed the danglingly end and pulled it off of me! Thankfully she hadn't poked me yet! She had to get him his own to distract him so she could work! Who knew a blue rubber strap would be so entertaining!!
So that was our trip in a nutshell! As I said before a wonderful friend got the hotel rooms donated and we are so thankful for that. They were great rooms and in Houston we stayed on the 8th floor for Cade! He was in heaven!! In Baton Rouge we stayed on the 5th floor and you had to use the key card in the elevator to get up that high, like it was sooo special. It looked just like the 3rd floor we stayed in but with a flat screen tv and a fridge. Cade thought it was grand though. He was so funny! The elevator had a glass wall and Asa liked that. Maybe that is why he didn't cry on the other elevators. Maybe we have cured him!!
I've got another post with just pictures too so look for that too!