Raising Awareness –a Key to Prevention

KEEP CALMA genetic counselor colleague of mine just posted the singing group One Republic’s new music video , “I Lived”. The video features 15 year old Bryan, who gives us a glimpse into living with a common genetic disease, cystic fibrosis (CF).  The lyrics to the song are an inspiration, as are the interludes of Brian speaking about his dreams for his (short) life (The life expectancy for an individual with CF is about 36 years).  I will admit that I cried when I watched it and bet some of you will too. I started to think about how amazing it is that a band with such a huge following (the video has 12,608,608 views on YouTube!) was able to make an impact on the CF world with a statement that is 5 minutes and 39 seconds.

The purpose of this blog is not to talk about CF, but I will give a brief synopsis of the condition. CF is one of the diseases that we talk about in every reproductive genetics appointment at our clinic at Montefiore.  Like SMA and fragile X, CF carrier testing is offered to all women who are pregnant or considering a pregnancy. Carriers of CF have no symptoms of the disease, but if their partners are also carriers of CF, then there is a 25% risk with each pregnancy that the child will be affected. Unlike many of the specifically Ashkenazi diseases we screen for, CF is pan-ethnic. It is estimated that 30,000 children and adults in the US and 70,000 worldwide are affected with CF. The Cystic Fibrosis Foundation has done phenomenal work in the realm of education, advocacy, and fundraising for research initiatives, and you can visit their website to learn more about the disease.

I think about all of the recent publicity for different diseases and it amazes me…This past summer’s Ice Bucket Challenge to raise awareness for ALS, Angelina Jolie’s op-ed in The New York Times disclosing her BRCA carrier status, Catherine Zeta Jones’s disclosure that she is being treated for bipolar disease, Movember’s amusing mustache-growing competitions during the month of November to raise awareness for men’s health issues, and the Cincinnati Bengal’s  recent high-profile fundraising campaign to sell Devon Still’s jersey for pediatric cancer research (his 4 year old daughter is battling cancer).  What an impact these movements have made on the world!

Young Bryan from the One Republic video, and all of these public figures, are doing a service to us by telling their stories.  Awareness and education about these diseases are not only essential to empower people to try to take preventative measures for themselves and their children, but it also plays a vital role in increasing understanding about diseases and their impact. Genetic (and non-genetic) diseases should not be taboo to discuss. So please, if you feel comfortable, share your stories. You don’t need celebrity status to do so.

Posted on February 12, 2015, in Uncategorized and tagged . Bookmark the permalink. Leave a comment.

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