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,
Monica
I would love to know more about the clinical trial. What a decision though, 2 months is a long time to be away but you definately cant be traveling back and forth! I hope you make peace with your decision soon.
ReplyDeleteIts disgusting that only 11 million goes to mito research. At a mito conference, it was once said that more money is spent on the "diet of the homeless" than mito research, ugh. Thats a tough thing to hear when your child has a incurable disease. We dont have any idea how Mito has affected our family, as its likely found in the Nuclear genes and we're still waiting for the test to become available. I also feel 14% is a positive thing, but nothing is positive about this diagnoses. We live for today and do our best to bury those statisitics. BUT even with the lack of funding, I feel good about the direction the research is going. At least Im getting a better sense that they are getting closer to a drug that might help our kids. (according to Jacks Mito Dr.) Things have really moved since we first got Jacks diagnoses in 2008.
HOPE is all weve got, and seriously, the snuggle fest sounds wonderful! Give her one for me tonight-hugs and prayers for your family and dear Sam.
Heidi & Jack.
(I had to laugh about the chocolate bars, thats SO me! I never felt comfortable to allow our kids to beg the neighbors/co-workers for $)