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...

  Peek into the future...and wait just a bit. Coming up some time this year is the publication of Stealing Doah , a new book by Elizabeth Mahlou.  The first time. Doah, a CHARGE Syndrome baby, at six months, was losing weight daily while in the hospital, where the staff was insisting in the kind of care that the mother and pediatrician and already determined would result in failure to thrive. Then, the hospital proposed surgery as the best approach, and the pediatrician, with a little research, learned that the suggested surgery had 25% chance of success and a pretty high risk of death. (Years later, research would show that most surgeries had a 35% chance of resulting in long-term dependence on a life machine and a poor prognosis.) The hospital decided to seek custody from the courts (without informing the parents). Elizabeth found out because she read -- and understood -- all Doah's medical records, and the doctors had left a trail. Propelled by gut instinct, Elizabeth stole...

  Peek into the future...and wait just a bit. Coming up some time this year is the publication of  Stealing Doah , a new book by Elizabeth Mahlou.  The first time. Doah, a CHARGE Syndrome baby, at six months, was losing weight daily while in the hospital, where the staff was insisting in the kind of care that the mother and pediatrician and already determined would result in failure to thrive. Then, the hospital proposed surgery as the best approach, and the pediatrician, with a little research, learned that the suggested surgery had 25% chance of success and a pretty high risk of death. (Years later, research would show that most surgeries had a 35% chance of resulting in long-term dependence on a life machine and a poor prognosis.) The hospital decided to seek custody from the courts (without informing the parents). Elizabeth found out because she read -- and understood -- all Doah's medical records, and the doctors had left a trail. Propelled by gut instinct, Elizabeth...

  Peek into the future...and wait just a bit. Coming up some time this year is the publication of  Stealing Doah , a new book by Elizabeth Mahlou.  The first time. Doah, a CHARGE Syndrome baby, at six months, was losing weight daily while in the hospital, where the staff was insisting in the kind of care that the mother and pediatrician and already determined would result in failure to thrive. Then, the hospital proposed surgery as the best approach, and the pediatrician, with a little research, learned that the suggested surgery had 25% chance of success and a pretty high risk of death. (Years later, research would show that most surgeries had a 35% chance of resulting in long-term dependence on a life machine and a poor prognosis.) The hospital decided to seek custody from the courts (without informing the parents). Elizabeth found out because she read -- and understood -- all Doah's medical records, and the doctors had left a trail. Propelled by gut instinct, Elizabeth...

  Peek into the future...and wait just a bit. Coming up some time this year is the publication of  Stealing Doah , a new book by Elizabeth Mahlou.  The first time. Doah, a CHARGE Syndrome baby, at six months, was losing weight daily while in the hospital, where the staff was insisting in the kind of care that the mother and pediatrician and already determined would result in failure to thrive. Then, the hospital proposed surgery as the best approach, and the pediatrician, with a little research, learned that the suggested surgery had 25% chance of success and a pretty high risk of death. (Years later, research would show that most surgeries had a 35% chance of resulting in long-term dependence on a life machine and a poor prognosis.) The hospital decided to seek custody from the courts (without informing the parents). Elizabeth found out because she read -- and understood -- all Doah's medical records, and the doctors had left a trail. Propelled by gut instinct, Elizabeth...