Yesterday we had our follow-up visit with the group near Atlanta that did all of Autumn’s tests last fall (second muscle biopsy, lumbar puncture, etc.). While the time we spent with the Nurse Practitioner went very well, the trip as a whole was quite an event. Should I have expected any less?
For some reason, things always seem to fall apart when we have out of town doctor appointments. Last year we took Silas to see a doctor in FL in March, and we had Autumn’s overnight trip to Atlanta in August. BOTH trips Criss and I BOTH had a stomach virus at the time we were supposed to start heading out the door. This time around, things starting going downhill Monday when something (I still can’t figure out what) triggered Silas’ stomach and blood sugar problems. For a while, I didn’t think I was going to be able to leave him with anyone so that Criss and I could both go to Atlanta with Autumn. In the end, we were able to coax him into eating just enough to keep his head above water.
When we left the house yesterday morning, things were looking up. We were leaving at a good time (so I thought), and Autumn was excited about having us all to herself for the day. We stopped to grab some caffeine, and everything suddenly fall apart. First of all, Autumn has never been a good rider, so we had packed several things to keep her occupied and happy. While I ran in the gas station, Criss tried to get the DVD player set up for her and realized that we did not have the right cord. There wasn’t time to go back, so we had to travel on without it. As we started driving away from the gas station, Autumn decided to play with her iXL game. Within two minutes of her turning it on, the batteries went dead. At almost the same moment, it hit me… We had forgotten to figure changing time zones into our travel time. Instead of being early, we were now going to be late. Not that we were speeding or anything J… but if we had wanted to try and make up some time, it would have been very difficult with the entire eastern half of Alabama under road construction in addition to the thirteen or more police cars we passed. You would have thought it was a holiday or something. Since I had factored in some extra time, we only ended up being 15 minutes late. Could have been a lot worse.
I really like all of the people at the Medical Neurogenetics office. Everyone I’ve come in contact with has been super helpful and friendly. The first visit, we met with the doctor, but our follow-up visit was with the Nurse Practitioner. The visit lasted several hours, and the nurse really listened to all of my concerns and was very observant.
As far as the testing they’ve done so far, her impression is that Autumn has a metabolic problem that is causing mitochondrial dysfunction (Complex I) as well as the cerebral folate deficiency. They cannot say for sure that it is not primarily a mitochondrial disorder, but it does not seem likely as this point. This is good news because if mito were the primary problem, Autumn would eventually begin to lose ground. Any illness or other problem could trigger an irreversible downhill spiral. If mito is secondary to something else, then degeneration is not as likely.
The problem is that they cannot find what the primary problem is. All of the metabolic disorders they’ve checked for have come back normal. They took blood to run several more tests, which we will hear back from in a few weeks. The nurse wants to continue seeing Autumn once a year to monitor her progress and continue searching for a primary diagnosis. They will not put her on any new supplements at this time because she has had strong, unusual reactions to several of them. The cerebral folate deficiency still needs to be addressed, but the nurse is trying to decide the best way to approach this since Autumn reacted badly to the medication they usually use. One thing they are checking for is antibodies to certain substances.
I found it interesting that I had just written a post comparing the kids’ lives to a house of cards. The nurse didn’t use that exact analogy, but she said basically the same thing. We need to continue avoiding things we know trigger fluctuations in Autumn’s symptoms. She said that things that wouldn’t affect most people can set off all kinds of problems with Autumn’s overall health. She also wants us to make sure Autumn is eating a protein and carb at least every 3 hours. Fasting should be avoided. If she has any more tests that require fasting, she will have to go in early and get IV fluids. It’s going to take a little work to figure out the protein/carb every 3 hours (during the day). With Autumn reacting to so many things, she cannot eat things that could be easily packed for school – like lunch meats, etc. Besides the food intolerances, she is a pretty picky eater, and if it’s not as hot or cold as she likes it, she will refuse it as well. Autumn hasn’t been drinking enough, and she needs to increase her water intake too. The nurse’s other recommendations were for Autumn to see an immunologist plus have some testing that will show how Autumn is processing information. One other concern the nurse had is that Autumn may be in more pain than she is communicating to us. The nurse checked several areas that are “hot spots” for joint pain, and Autumn was very sensitive in those areas.
Another thing the nurse mentioned is that in the next several years, we should be able to get a complete DNA sequencing done, and that might be the only way to find the real problem. It was ironic because that is the same thing Silas’ immunologist had told me at his last visit – only in regard to Silas’ possible metabolic disorder.
The nurse was absolutely wonderful, and truly listened to me. We ended the visit with several labs. While they were taking Autumn’s blood, she suddenly turned pale and threw up on all of us. (The nurse said it was vasovagal.) Criss was sitting beside me (with Autumn in my lap), and somehow avoided the whole mess. The nurse was able to just remove the sweater she was wearing. Lucky for Autumn, we had packed her an extra outfit. Unlucky for me, I had nothing else to wear. As a mom, you eventually get used to these kinds of things. After the blood draw, Autumn didn’t feel so hot the rest of the day. We stopped at a mall for lunch so we could walk a few minutes before sitting in the van for another 3-4 hours.
Even though she wasn’t feeling 100%, Autumn enjoyed us walking around the mall together. I can already tell that she’s going to be a shopaholic when she gets older. Once we got back in the van, she was completely worn out and slept almost the entire way home.
Janel
“So she called the name of the Lord who spoke to her, ‘You are a God of seeing,’ for she said, ‘Truly here I have seen him who looks after me.’” Genesis 16:13
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