A lot of time has passed and I am doing a disservice to anyone who may discover this blog by not writing in it. For the little ones, it has been a good year overall. Michael and Ariella have avoided hospital stays through good health and careful management of their symptoms.
Michael, however, was a participant in a clinical trial through the Oregon Health and Science University. Working with Melanie Gillingham, and Cary Harding, MD, I traveled to Portland twice with Michael and Ariella. Ariella was not permitted to participate in the study because her second gene mutation wasn't available in her chart. (Long story, but I did get the answer finally as to why!) Michael was nervous about the tests but participated fully. This link gives information about the specifics of the trial. https://clinicaltrials.gov/ct2/show/NCT01379625?term=CPT+2&rank=4
We traveled in January and again in April, and in between Michael took doses of the study oil, which was either MCT oil or C7 oil, also known as triheptanoin. When the study is completed, we will find out which oil he received.
It was quite an adventure, traveling across the country with a 9 and 11 year old. Twice! They had a lot to say about the flights. The second time we went was a lot better than the first because there wasn't as much turbulence and there weren't as many crying babies. The kids also enjoyed flying United because they got to watch television while we flew. (I wasn't a fan because they broke my suitcase.) They were the most well behaved I think I have ever seen them though, for such a different and intense situation as the entire process of flying. I was very proud of them.
Nathan ran into a little trouble this summer with his headache. His neurologist recommended a lumbar puncture to determine if his two year long headache (it has not remitted even for a day) is from a cerebrospinal fluid pressure issue. His CSF pressure was fine but he didn't react well to the lumbar puncture. We had two ER visits afterward and a week later, during the second visit, Nathan had a procedure called a blood patch and his headache finally calmed back down to his baseline.
Our new health insurance will not cover the medication the neurologist prescribed for his flare ups to the headache so we have to try two other medications first. So far Imitrex is a fail so it's time to try Maxalt and then maybe we can go back to the Amerge that was actually helpful. Insurance companies are so frustrating!
This school year has started a new chapter for Ariella and Michael. They are now being homeschooled by their father and are doing much better with their studies. It is wonderful to see! And their illness doesn't keep them from learning because they are comfortable at home.
More to come...hopefully it won't take another year to post!
I am also thinking of creating a Facebook page for the kids. It is important to get more information out there about CPT 2 deficiency. The biggest news I received in the past couple of weeks is the incidence rate, which is 1:300,000. It's one of the most rare conditions I have ever heard about; the other fatty oxidation disorders are much more common.
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