Tuesday, November 2, 2010

Back from Cleveland....

We met with Dr. Cohen yesterday and were not disappointed.  Dr. C was knowledgable, yet friendly. He did not downplay the severity of the situation but did offer us hope that we can perhaps slow down the progression of the disease.

(I apologize about the specifics below, don't feel obligated to read it all, I'm just writing it all down so that I don't forget anything!)

When we originally requested to see Dr. C we did not know about the gene mutation so thus were  going there originally to ask him if he thought this was in fact, mitochondrial disease. As we did find out there was a gene mutation prior to the appointment, we used our time with Dr. C as a question/answer session on some things Val and I have been curious about regarding mitochondrial disease in general and specifically Samantha's "type".

We talked about the difference between Leigh's and "regular" mitochondrial encephalopathy and if it matters "what" we call this. He discussed the origin of Leigh's and how it was diagnosed by autopsy back in the 1950s when it was first named. Back then they did not have the technology we do now, so there was a time doctors were only guessing as to what was going on in someone's brain. Samantha's MRI fits what Leigh's seems to look like, but he admits it's a clinical diagnosis only and that yes, we can call it mitochondrial encephalopathy if we like (because that is a good descriptor of what it is as well).  Regardless of what we call it, we still won't know a specific prognosis or course for Sam.

We asked him about vaccines and he does believe she should continue to get them. He didn't feel that giving her one at a time was necessary. In fact he felt that getting 2 or 3 at once would be better than one a month. He felt that three small metabolic stressors would be worse than one larger one.  I thought that was interesting. Not quite sure I believe it, but he is the doctor after all ;)

Val and I discussed the supplements that Sam is currently on. He agreed they were appropriate but did want to increase them slightly as well as add a few more. Ugh. Samantha doesn't like taking some of them AT ALL. I've been working on trying to find new flavors/forms to try as we do need to get as many into her as we can.  This definitely is going to be a challenge for us. I keep hoping she'll get used to them but the opposite is happening. Each week seems to get a little more challenging as she is apparently reaching her limit of things she doesn't like being squirted into her mouth.

We talked about the possibility of me actually having the mutation as well. He feels it is a very strong possibility. Although these mutations can be new, in his experience most of them are not. He wants me tested as soon as possible and feels that once we know my percentage of mutation and Samantha's percentage of mutation we may be able to predict her prognosis a little more accurately. Of course he then said, "But this as well is not a sensitive measure of future progression".  I asked him if I had a mutation would there be a possibility that I too would develop symptoms at some point, and he said yes.  But, obviously Val and I are not going to focus on that right now.

He talked about the avoidance of physical stress and how that will be really important going forward (fever, hunger, sleep, dehydration etc).  I let him know that we've turned into germaphobes and he seemed to feel that was ok, and necessary. We asked about homeschooling in the future and he discussed that although he doesn't feel homeschooling is the right choice for most families, he does feel that with Sam's illness it would be appropriate as "as a school, you are never going to be able to enforce having parents keep their children home when they are sick".  Apparently a simple virus really can be dangerous in her situation, so perhaps homeschooling will be in our future.

Finally, he did mention a clinical drug trial that he will be a part of after the first of the year for Leigh's children.  He feels Samantha would be accepted into the trial based on her having a confirmed genetic mutation proving her mitochondrial disease.  This drug (EPI-743, apparently a derivative of vitamin E) has been given to Leigh's children in very limited numbers in the past. However, these children were only given 1-3 months to live when they started the trial.  It's hard to say what/if any negative reaction the drug would have in Sam. The biggest downside is tha we would have to travel to Ohio once a week to be part of the trial.  My hope is there is some flexibility with that as I don't think that spending 15 hours a week in a carseat would be the best thing for Sam. She could barely take steps on Sunday night after spending all day sitting in the van.  If she does worse after traveling each week, would we blame the new drug or the travel time/change in schedule etc?  Not to mention I'd hate to have to bring her into a germ filled hospital once a week.  

On the other hand, what if it worked/helped?

It is a tough decision, to be sure.   Val and I are still thinking it over (and over, and over and over).

In short, we thought it was a really productive appointment and we are glad we decided to go.  It never hurts to get another doctor's opinion on something so serious.  Dr. C is one of, if not the leading mitochondrial specialist in the country.  Both Val and I felt it was important to get to talk to him about Samantha.

Until next time,



  1. Wow, M. What a productive meeting. Good on you two for being so prepared and educated! Dr. C sounds great, and I'm glad you guys made it out to Cleveland to see him.

  2. Sounds like a really good meeting...

    I could be wrong but i think I actually met with Dr. Cohen yesterday 11/2... he came down for a UMDF thingie and I decided to go. He is very knowledgable. He helped me to understand where the doctors were coming from when they discharged Q from the San Diego clinic.

    Q actually has a mutation indicating she has MNGIE, however her thymadine levels were found to be normal. The doc said that Mito in general is so new, but MNGIE is the rarest form of that gene and so that's why the docs wouldn't rule it in or out. If her thymadine levels were found to be high, she would have been diagnosed on the spot. Taht doesn't mean that she doesn't have mito, just means that the technology might not have caught up.

    Anyway, he helped me to understand and now i'm not so convinced that it ISN'T mito. Still not 100% convinced it is either.

    anyway. thank you for updating. it's a lot of information.

  3. Sarah--I saw (and commented) on you meeting with Dr. C. In our case, the gene mutation "confirmed" the diagnosis. But Sam's MRI's apparently were "classic mito" as well. I don't think it would hurt to call and treat Q as mito...as she has so many things going on for her. Eventually science will catch up with our kids (and hopefully have a cure). We just have to keep on pressing the doctors and fighting for research, and cures etc....

    Hang in there.