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Showing posts with the label CHARGE Syndrome

Cancer Diary: Colonoscopies and Aging—When to Start, When to Stop?

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  Aging brings many questions about medical care, and colonoscopies are no exception. When should you start them? When should you stop? The answers aren’t as straightforward as you might think, especially when family history, anesthesia risks, and individual health concerns come into play. When to Start and Why? For most people, the recommended age to begin screening for colorectal cancer is 45 (lowered from 50 in recent years due to increasing cases in younger adults). However, if you have a strong family history—like my siblings and I, who all have had pre-cancerous polyps found at each colonoscopy—you may need to start even earlier. Doctors recommend earlier and more frequent screenings if you have: A family history of colorectal cancer or pre-cancerous polyps Certain genetic conditions like Lynch Syndrome A history of inflammatory bowel disease (Crohn’s or ulcerative colitis) When to Stop and Why? Many doctors advise stopping colonoscopies at 75 —but is that t...

National Rare Disease Day: Some Comments and a Challenged Author

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  Today, February 28, 2025,* marks Rare Disease Day, an international observance dedicated to raising awareness about rare diseases and their impact on patients' lives. Among these conditions is CHARGE Syndrome, a complex genetic disorder that affects approximately 1 in 10,000 births worldwide. The acronym CHARGE stands for Coloboma, Heart defects, Atresia choanae, Restricted growth and development, Genital abnormalities, and Ear abnormalities - reflecting the multiple systems affected by this condition. What makes this Rare Disease Day particularly noteworthy is the ongoing contribution of Shenan Leaver, believed to be the oldest living person with CHARGE Syndrome in the world. Despite facing numerous medical challenges throughout his life, Leaver has defied expectations by not only surviving but thriving as an author. His resilience exemplifies the potential for individuals with rare conditions to lead fulfilling lives when provided with proper support and opportunities. Leaver...

Cancer Diary: The Eyes Have It

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  My eyes are pretty good -- well, actually, very, very good. At 75, I still do not need glasses (per my last eye exam three days ago). This only once in a while seems unusual to me when one friend or another complains about an eye problem or glasses or... eye cancer (yep, there it is, the big C associated with eyes). When my CHARGE Syndrome son, who lives at home with me, saw his own eye doctor the next day, I learned that it really is very rare to have normal near vision at my age. The doctor prepped my son for what she thought would be unpleasant news (that he would have to start wearing glasses now at age 45). Age 40 is kind of a magical line, she explained in language she hoped he would understand. Once you cross that magic line, you can pretty much expect to need glasses. "Uh, not always," I interrupted her. "I crossed that line 35 years ago, and, well, nada changed." She ignored me -- what could she really say -- and proceeded to check my son's eyes. Res...

Cancer Diary: What if you cannot have a colonoscopy?

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  Carl Leaver , to whom Cancer Diary and the CCC are dedicated, has a lookalike son. Their interests and behaviors are essentially the same. Carl's son CB has his same build -- except that he is a foot shorter, part of the CHARGE Syndome with which he was born. Carl died of Cancer of Unknown Primary; however, his oncologist believed (gut instinct plus experience) that it started in the colon. Carl could have had regular colonoscopies, but he foolishly chose not to because he was super-healthy. (The only time he was sick enough to vomit was one day when he was 21.) Unfortunately, he died super-healthy. Never vomited again, ever. Never felt sick until cancer wore out his energy and his muscles and then his thinking capacity. So, lesson learned? CB gets regular colonoscopies? His siblings do, and his brother has had some polyps removed. CB, however, cannot. As his gastroenterologist says, as a result of CHARGE Syndrome, CB has a 35% chance of dying from any procedure that requires int...