With both, you have only two results: positive and negative. Both are definitive and conclusive. They also are similar because in cancer cases, you may be told to keep an eye on things and get the test repeated in a couple of years, which is somewhat similar to genetic testing in the sense that it will always be there. You may hear the results of the biopsy as negative, and think the scare is over. Done. But that usually isn't the case. If something looks like a duck and quacks like a duck, it's usually a duck. We all know too many stories of friends and family who have had cancer touch them. But we don't know too many that are going through genetic testing.
Genetic testing completely differs from getting a biopsy done in the period after the test results have been received. And I first must say that I can only offer insights and experiences for the genetic condition that I have. As we know, every disease has different pathways and protocols. In the case of CADASIL, there are no treatments or cures. Your genetic condition could be entirely different.
I remember feeling when I was going through the testing process back in 2007 that it would be easier to get diagnosed with cancer because there would be treatments and support groups and all kinds of vitamins, etc. In other words, I felt like there were lots of options. But I know my friend who was diagnosed with a Stage 4 Glioblastoma brain tumor didn't feel that way. There were tons of research trials for that condition and when she went to a doctor, they knew of it. But my genetic condition didn't have a single on-going research trial to speak of and I've seen countless doctors that have never even heard of the condition I have. Which would I rather have? She passed away 11 months after diagnosis. I went to the YMCA tonight and ran 2 miles.
I was warned before I went through genetic testing about the fact that there was nothing I could do if I was positive. And while I understand they were only trying to help and it is a factual statement, because of the lack of clinical trials on CADASIL or any meaningful treatment; I beg to differ.
When my friend received his results today, I asked his wife, "if the results were positive, would you two do anything differently tomorrow?" Because I know this couple is full-of-life and live with exuberance and deep love for one another, I thought she'd say "no". And she did. But I know my life took a different path when I received my genetic results that were positive, but for the better. I still have the same job (obviously jobs and titles change through the years, but I'm still doing the basic occupation), still married to the same wonderful man, and my boys are still the greatest part of my life. So while I think things are dramatically different, they're still the same. And I wouldn't have it any other way!!
While there is no treatment or cure, there is still much we can do as a community. Bringing awareness to the medical community is of the utmost importance at this stage of CADASILs history. The recent article on facebook gives figures of 4.14 per 100,000 when you consider the possible diagnosis in the untested group. I believe CADASIL is grossly undiagnosed. When we have true numbers the medical community and drug companies will be more interested in a cure. In the meantime being able to influence the progression of the disease is possibly the most important thing CADASIL patients need, apart from an acute cure. Though there is no good scientific data, but there is preliminary data to show acetazolamide and l-aginine may help. Also living a healthy lifestyle of good diet and exercise is probably beneficial.
ReplyDeleteI agree wholeheartedly with your post!!! There's lot of work to be done. Suggestions are frequently posted on the CADASIL Supoort Group on FACEBOOK. Hope to see you there. ~ Anne McGuinness
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