MSI Press Blog

  It just happened. Not overnight. I just seemed like it. All the rainbow makers had lived -- and become adults. Now what? As we were to find out, the answer to that question was on us. We found out the Catch-22 of adult rare disease care. Pediatric teams were clearly trained and resourced for congenital complexity—but they discharged based on age, not need; typically, age 12. Sorry, Doah, they said, we just now have a diagnosis for you -- CHARGE Syndrome (a newly discovered syndrome), but you are a big boy now, about to be a teenager, so goodbye. At last, finally, we had a label, but no way ahead and no doctors. PCPs available in our area, of course, knew nothing about CHARGE, but they did their best to treat Doah, treating him like any other teenager and then young adults, and now aging adult. Adult systems, we learned, are siloed and symptom-focused, often lacking interdisciplinary coordination or rare disease literacy. Clinicians fear liability or “not knowing”, so th...

  After Doah was released home from the neonatal unit, where he stayed for three weeks, given his premie status, life returned to normal. At least, normal for the Mahlou family. I returned to work while continuing to nurse Doah. As usual, everyone watched out for everyone else, Lizzie babysitting Noelle and Shane, and Noelle continuing with her special needs programming. Donnie, at that time, working on honing his photographic skills at the Art Institute of Pittsburgh (and using me for a model for his, yikes, nudes).  Dr. Paul, Doah's pediatrician, who knew the family and me well from all the kids, especially Noelle and her special needs, said Doah would do better at home and promised to release him as soon as he gained one ounce, which he did. Hope floated like a balloon. It was so much easier having Doah home. No more trips to the hospital to nurse him. Crazy life continued on its crazy path, but at least it was a known path for us and, therefore, mostly comfortable, perhaps...

  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...