MSI Press Blog

  In the early 1980s, before CHARGE Syndrome had a name, before anyone knew that a cluster of anomalies belonged together, before “multidisciplinary clinic” was even a phrase, there was just a little boy with a tracheostomy and a mother who refused to accept the limits of geography. Doah was five. We were living in Pittsburgh, and the message was clear: there was nothing more to be done . His airway was too narrow, too fragile, too complicated. The local surgeons were skilled, but this was beyond their experience. No "implication" hung in the air; they said it out loud and multiple times (because I pushed back). There is no hope for Doah. In December 1980, when I asked about future expectations, the head of ENT put it bluntly, "His future is days, weeks if you are lucky." I didn’t accept it. So, I did what any mother with a medically complex child and no internet would do: I marched myself into the medical school library, found the Journal of Otorhinolaryngolog...

  Emergencies don’t always come with flashing lights. Sometimes, they come with silence. My son—45, living with CHARGE Syndrome—was eating in a booth at Fosters Freeze when he began choking. He stopped talking and sat perfectly still, rigid. A super example of hyperactivity, he does not know to sit still; this was not normal. Then, his body turned rubbery. His skin changed color. His eyes locked and rolled back. He wasn’t breathing. We were the only customers. I asked twice— please call 911 . No one moved. And so, I stopped speaking. I stopped asking. I did what decades of caring for him trained me to do. I tried to save him. He was wedged into the booth. I couldn’t lift him out—I couldn’t fully lift him at all. I managed to pull him partway out, enough to get his head hanging down over the bench. I hit his back, again and again, and waited for breath to return. It took minutes. I’m not sure how many—time doesn’t tick normally when your child is blue. Eventually, his lungs be...

  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...