Parkinson's Disease
I was lucky enough to get a one-on-one talk with a staff member of the Michael J. Fox Foundation (MJFF) this week, and she was lucky enough to stay for dinner and have some of the wife's Gazpacho. The following are notes from memory that I wrote up after she left. They are in no particular order, just a stream of consciousness. They have done a genetics/environment combination study. Evidently they did a study which found 11 markers when found in some combinations, increase the risk of PD if you are also exposed to some life factor (ie pesticide, brain injury, etc). Pure genetic PD is still considered rare, but a focus area of research, because treatments that arise out of genetics can be used for everyone. The genetics give clues to how the genes effect all PD patients. They are focusing research on cures AND stopping/reversing progression. One other focus is developing a clinical test that determines not only if you have PD but your progression so clinical trials can have measurable results. Unlike the UPDRS, this would be an objective measure via blood work, brain scan, etc. Stem cells are seen as longer term because they are more likely to cause harm so treatment has to be perfect. Big areas are genetics and protein based treatments. Big issue is delivery method to get past blood-brain barrier. One study is looking at DBS-like treatment using drugs instead of surgery. Another looks at using alternative receptors/transmitters to help control motor function as Dopamine production drops. We also talked about how the science is funded and how they are changing it. Scientists receive grants for new ideas while pharma needs to make a profit, so they're trying to fill the gap between good new ideas that have no development behind them to show there is a profit in the future. Hope the notes help and give to the MJFF. |
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One of the consequences of the Michael J. Fox interview with Oprah was there was a lot of online chatter about the show. One thing I noticed was that many people used the phrase, "suffering from Parkinson's" to describe Fox. This made me wonder if I feel I am suffering from Parkinson's versus living with it. My Parkinson's has not progressed near the amount Fox's has. This is due to length of diagnosis, medical advancements since his first diagnosis and probably a host of other issues. This may give me a different perspective; however, based upon his statement's about Parkinson's not defining him and how it made him a better parent as well as his good humor, I hope he feels similar to me. When I think of suffering, I think of Lance Armstrong riding up Alpe D'Huez. I think of suffering in terms of pain, not in terms of hardship. People who break bones or are going through chemo are suffering because those things hurt. My major "pain" is medicine induce nausea and that is more of a pain in the behind than an actual pain. My symptoms, while annoying, can be overcome and dealt with. I can type with one hand when my tremor acts up, as I am doing now, or ask for help with a particular act that requires more dexterity than I now have; however, I am not suffering, I am living my life. I go to work and earn a good living and provide for my family. I can be active and play with my kids as well as take care of my daughter's special needs. I have a good life, I am just slower at some activities than others. Where I occasionally see suffering is my loved ones. I dealt with my diagnosis a lot quicker than others in my family. There is actual anguish and suffering on the part of most people's loved ones because of the loss of a healthy spouse, parent, sibling, child, etc. And often the loved ones must suffer alone because they think others would see them as selfish since they do not have the disease. I would say, instead of chastising them or talking behind their backs, try to understand that major diseases like PD changes the loved ones lives as well. Support them as much, if not more than those living with a disease. I have no problem asking for more time or help, while those around me and others with serious diseases may feel more self conscious. So what is the point of all this, other than a stream of consciousness? I hope others will not pity people in similar situations to mine, but will feel empathy. Empathy for the person living with their condition and those around them as well. The difference between pity and empathy is the time to understand, but that is a subject for another post. |
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23andMe, the personal genetics company has begun a new program funded in part by Google co-founder Sergey Brin. They are now looking for at least 10,000 PD patients to provide genetic samples and answer questionnaires about their own health experiences. 23andMe takes DNA samples from individuals (people spit in a cup) and then help them read and understand the results. The information provided includes data about ancestry, inherited traits and disease risk. Because their service is web based, they can get both specific information about a person's background (phenotype) through questionnaires as well as their genetic profile (genotype) via the DNA samples. This makes them a perfect central repository for genome-wide association studies (GWAS).
They are working with the Michael J. Fox Foundation and the Parkinson's Institute. As a person with Parkinson's (PWP), I am happy about the study and hope it yields some interesting results. I have requested a discount code via this link at the Michael J. Fox Foundation and encourage any PWP to do the same. The cost will be $25 vs. the standard $399 rate, and you will get all of the standard ancestry, inherited traits and disease risk information as well as the ability to participate in a Parkinson's specific community on their website. |
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