Mystery Diagnosis: The Purple Puzzle Episode

I am a mom of two boys with Shwachman-Diamond Syndrome, so I admit, I only watched the first segment of The Purple Puzzle episode. I watched the segment on Shwachman- Diamond Syndrome.

When we first found out that Shwachman-Diamond Syndrome was going to be featured on Mystery Diagnosis, we were elated! Shwachman-Diamond Syndrome is so rare that many doctors can't even spell it, much less pronounce it. I still remember how I received my first son's diagnosis, "I think he has something called Shwachman-Diamond Syndrome," the doctor came in to tell me. I asked, "Could you spell that for me?" The doctor walked out of the room and never did spell it for me that day. SDS is barely mentioned in medical textbooks, so most doctors don't have a clue as to what it even is. Shwachman-Diamond Syndrome, known in our family as SDS, to make it to the mainstream media on Mystery Diagnosis is HUGE!

Overall, the segment was put together very well. I think they could have put a bit more information on Shwachman-Diamond Syndrome. They failed to mention that neutropenia was the most common hematological abnormality found in SDS and they did not get the bone marrow transplant (BMT) procedure correct, but those were just small errors in an otherwise outstanding show. The graphics they used to explain some of the medical details related to the disease were outstanding, as well (with the exception of the bone marrow transplant procedure!). BMT preparation is done with a preparative regimen of chemotherapy and sometimes radiation (protocols vary). The bone marrow is not drained from the body, as they mentioned in the show. And lastly, if it were I producing the show, I would have made mention that Shwachman-Diamond Syndrome kids need a special preparative regimen before BMT because of possible liver and heart defects associated with SDS.