Wednesday, November 17, 2010

Fundraising, Vitamins and Percentages....

Things have been somewhat calm since our trip to Cleveland.  We are still mulling over the idea of traveling to Akron, Ohio for the clinical trial.  So far the doctor hasn't been able to give us too much more information. He does believe it would at least require weekly check ins for the first six weeks (complete with blood draws each week--ouch).  As traveling through PA into Ohio once a week through the winter months doesn't seem like a good plan, Val and I are considering renting a place near the trial for a couple of months.   We definitely would need more information about the drug/trial before we would agree to do that. In short, we still aren't sure.

Valerie and one of her brother's were able to meet with some of the board members at the UMDF last week to discuss fundraising strategies.  The UMDF's board is a great group of dedicated individuals, and we hope to be able to contribute to the foundation in any and every way we can. Currently, Mitochondrial Disease has no cure. Samantha's specific diagnosis is considered terminal. While we hope each day that she proves her diagnosis wrong and grows up to live a full and healthy life, without a cure, all we can due is hope.  Finding a cure takes research. And, research takes money.

Some recent statistics:

The NIH's budget is 29 billion a year.  1 billion is spent on smoking cessation.  11 million is spent on mito research. That is not enough.

Mitochondrial dysfunction is implicated in many other conditions (Alzheimer's, Diabetes, Parkinsons, just to name a few).  If scientists learn more about mitochondrial dysfunction, that research would also be able to impact these other conditions in a positive way.  

Valerie and I are probably not the best candidates when it comes to being fundraisers.  (Val made a joke recently that she was the one who forced her parents to buy all of her chocolate bars as a kid because she didn't want to have to ask the neighbors for money.)  However, we feel we have no choice but to try as best we can to raise money and public awareness for mitochondrial disease.  

In other news we are still trying to gather all of the vitamins for Samantha's cocktail. We have just two more to go.  We are attempting a switch to a local compounding pharmacy that takes our secondary insurance. While we love our current pharmacy, it is going to be quite costly to continue with them for the long haul. They do not take our secondary and our primary apparently doesn't consider the supplements that important and charge us the highest copay. Truthfully, I'm not sure our primary actually pays anything to the pharmacy as what we pay out of pocket is pretty high for a vitamin. If it doesn't work out with the PA pharmacy we will most likely just use the MA one as we really, really like them.  Luckily, her vitamin taking has been going a little better. Apparently the third flavor of l-arginine the MA pharmacy tried (go Bubblegum!) must taste a little better as she doesn't scream and cry anymore about taking it.  She still doesn't love taking most of them, but we are grateful that she's been just a little more understanding about it.

The genetic counselor called last week to discuss the percentage of mutant genes (some of Sam's copies are good, some are bad--usually the higher the percentage the worse the prognosis, in general that is).  Sam's mutant load in her blood is only 14 %. The positive me is very happy to hear that number.  It is a very low number. However, the realist in me lets me know that doesn't really tell us much.  It is too low to be significant. Apparently, different tissues (blood, organs, muscle) can have different percentages. We have not done a muscle biopsy on Sam.  And will not at this point.  We certainly aren't going to do a brain biopsy.  As her illness is mostly neurologically based, a brain biopsy would probably tell us the most information.  Again, no one is suggesting we do anything like that.   So, I'll take the 14 % and just assume that is a good number to have.  I will be tested soon to see if I have the same gene mutation and they will also be able to tell what percentage I have as well

Little Samantha continues to try to walk throughout the house, which we love seeing. And, her speech has been slowly improving. We  are loving every minute with Samantha as she may be, in fact, the most snuggly child to ever grace this planet. It seriously is a hug fest around here.  

Until next time,


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,