MSI Press Blog

  Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare disease. Rare Disease Day is meaningful for MSI Press since one of its authors, Shenan (CB) Leaver suffers from CHARGE Syndrome. CHARGE is so rare that he is one of only a handful of survivors in his age group worldwide -- he has personally found four besides himself! CHARGE Syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. When CB was born 42 years ago, CHARGE was not even known! Now, 70% of children born with CHARGE make it to ...

  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...

  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...

  Precerpt from  Raising God’s Rainbow Makers (Mahlou) I’ve always been a sound sleeper. Earthquakes, mortar fire, even sick children standing beside the bed—I slept through it all. But when Doah was born, everything changed. He had apnea attacks, day and night, and for the first six months of his life, there were no monitors leased to homes. No alarms. No backup. Just me. He slept beside me in bed, and every time he stopped breathing, I woke up. Instantly. No sound, no motion—just absence. My body registered the silence and responded before thought could catch up. I gave him CPR more times than I can count. I didn’t sleep lightly. I slept attuned . That’s the only word for it. That winter, there were eleven children in Pittsburgh with tracheotomies. Nine of them died. Only a ten-year-old and Doah survived. I believe he lived because of proximity—because my body recalibrated to his breath, because he was beside me, and because I refused to surrender to institutional neglect....

  Coming soon! Raising God's Rainbow Makers by Dr. Elizabeth Mahlou. Book Description: A Family Memoir of Grace, Grit, and Growing Up Different What happens when a military family welcomes four children—each with wildly different needs—into a world not always built to support them? In  Raising God’s Rainbow Makers , one mother shares the remarkable journey of raising two children with complex disabilities—one with spina bifida, one with CHARGE Syndrome—and two intellectually gifted children, all born in different states during years of military life. Through medical crises, educational challenges, and societal roadblocks (both intentional and unintentional), this honest and inspiring memoir tells the story of how one family built a life of strength, compassion, and resilience. With warmth and unflinching honesty, the author reflects on emergency surgeries, IEP battles, unexpected victories, and the fierce sibling bonds that formed in the face of it all. The children—now grown...