Finally stopped playing phone tag with the neurologist! We got our results for the EEG, the MRI, and the Chromosomal analysis. Lots of big words, so I'll try to explain everything as simple as I can. I may have a few things mixed up here and there, but it's at least the overall picture.
His chromosomal testing came back normal, but that does not mean that when technology improves that will still be the case. The doctor believes that there is something there in that area, but in the mean time the only way to find out for sure is to try to find a clinical trial or research being done by someone interested in DNA sequencing on kids with similar symptoms. He is going to take Liam's info to a conference and get the opinions of others. He is also going to talk to colleagues from St. Louis and other places to see about any clinical trials. (*I think he said other places as well, anyways). I'm not sure if it will be this week or not, but he asked my permission to do so and I obviously said yes.
With the chromosomal testing they did, called a microarray, where they basically just check to make sure that the right number of chromosomes are there and that it was "put together" correctly. I am not sure if they did FISH testing or not, but I would imagine so. We'd all have slight "abnormalities" in our results if we had the test done, so they only report on changes that are known to cause a condition.
Here are two sites I thought might help if you want to know more about it. They might not be the best, but they were the best I could find on google. If you want to check into it yourself, be sure not to get into a site trying to sell at home genetic tests and that it is not intended for miscarriages.
about chromosomes and genes: go to www.kidshealth.com and in the search bar type all about genetics
a site about different testing: http://www.subtelomeres.com/ClinicalDiagnosis_6.html (not sure if you can click on it or not, but copy and paste should work if not.) Definitely read the standard chromosomal testing page, and the FISH page (second link on left side).
The purpose of a clinical trial for Liam is because with the testing that was already done, they simply can not look at every single gene in the entire body. The technology for full DNA sequencing as a procedure is still at least 5 years away from being available from a doctor. But, doctors can do this in research. The trick is finding a trial/clinical research that is looking for a specific thing. I've searched around very briefly and found 1-2 he might qualify for, but I didn't completely read them yet to see if he does.
EEG-
Found no indication of seizure activity or abnormal spikes that were not seizures. This could be because he is on medication for seizures and he had none, but it's also not uncommon for an EEG to not pick up on a seizure. I think we got a bit too high with his seizure medicine, he seemed a bit different when we upped his dose the last time, so we are going back down a little bit. The doctor is going to call me next Wednesday to see how he reacted to lowering the dose. If I think he had a seizure we may add a new medicine to his current medicine, or just start a different medication. One in particular is known to cause weight gain, so I'm looking into that one.
What I love about this doctor is that he just told me to check out some different medications on my own and that he would call next week to see what I thought of the ones I found. He is going to "think on it" this week as to what medication he thinks would be best. I'm sure he is just trying to make me feel like "parents know best", but it's working. We may also do a Video-EEG sometime, where he just spends a day or more (usually at least 24 hours) in the hospital hooked up to the electrodes and he is on video. Whenever I see a "seizure" I can push a button and they will see what happens during that time.
MRI-
Still shows delayed myelination (the white matter of the brain...it "gets whiter" up until young adulthood, but the amount of myelin should directly correlate to age - the brain myelinates due to experience...and myelinated neurons are way faster than non-myelinated "gray matter".) Seizures can cause delayed myelination, but I'm guessing even without his seizures it would be delayed. I also found a journal article where they found that kids with strabismus (how his eyes do not always work together, or one lags a bit behind when focusing on something) have significantly longer times reaching developmental milestones, and that these kids ALL showed marked improvement just days after having surgery to have it fixed. I don't think his is bad enough for surgery, but it makes me glad I am changing eye doctors since he has been diagnosed with strabismus.
The main purpose of this MRI was to make sure that his brain was continuing to develop, and it is so we basically got what we wanted. It was expected that there would be delayed myelination, because that is often the cause of developmental delays.
So, overall we didn't find out anything new with the tests, but it did rule out some things. And if we do not find a clinical trial right now, new ones start all the time. And if one never comes up, eventually it can be ordered by doctors.
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