When the quest for answers leads down unexpected paths, television series like “Mystery Diagnosis” step into the limelight, captivating audiences with real-life medical enigmas. One such compelling episode, broadcasted on Discovery Health Channel, unveiled the story of the Hannum family and their two-year-old daughter, Hannah, who faced not one, but two mystery diagnoses.
Hannah’s journey began with inexplicable bruises and recurring infections, initially dismissed as common childhood ailments. However, Holly Hannum, Hannah’s mother, persisted, sensing something more profound. It wasn’t until Hannah became increasingly lethargic that medical professionals recognized the severity of her condition. Shortly before her third birthday, Hannah received a diagnosis that would change their lives forever: Myelodysplastic syndrome (MDS), a rare form of leukemia. This diagnosis was perplexing in itself, as MDS is statistically more prevalent in children with Down syndrome, a condition Hannah was not known to have.
The ensuing months became a relentless cycle of hospital visits to The Children’s Hospital of Pittsburgh (CHOP). Holly Hannum vividly recalls, “We spent the next few months in and out of The Children’s Hospital of Pittsburgh (CHOP) with blood and platelet transfusions, chemotherapy stays then home to recover and back for more chemotherapy and remain for her counts to recover.” As Hannah’s medical team prepared for a bone marrow transplant, a crucial discovery was made. It was during this pre-transplant evaluation that the oncology team at CHOP unraveled not only the mystery behind Hannah’s leukemia but also averted a potentially fatal error in her treatment plan.
Hannah was diagnosed with mosaic Down syndrome. This condition, often undiagnosed, is characterized by a mixture of cells, some with the usual number of chromosomes and others with an extra copy of chromosome 21. This mosaicism explained Hannah’s predisposition to leukemia, as individuals with any form of Down syndrome are at a higher risk. More critically, it meant that Hannah required a modified chemotherapy protocol. Standard chemotherapy dosages for leukemia patients without Down syndrome are dangerously toxic for those with the chromosomal anomaly. The CHOP oncology team emphasized the critical importance of identifying mosaic Down syndrome in leukemia patients, stating, “It is fundamentally important to identify those with AML/MDS who have mild or normal phenotypes associated with DS for clinical diagnosis and management.”
Kristy Colvin, president of the International Mosaic Down Syndrome Association (IMDSA), highlighted the significance of this “Mystery Diagnosis” episode in raising awareness. “We at IMDSA are excited about the airing of this show. Mosaic Down syndrome is quite often undiagnosed and the average age for this diagnosis is 1-4 yrs. We hope that with this episode many more will get diagnosed to help with not only developmental delays, but more importantly the health risks associated with mosaic Down syndrome.” The challenge with mosaic Down syndrome is that physical characteristics of Down syndrome may be subtle or absent, leading to underdiagnosis well into adulthood. Accurate diagnosis necessitates a blood or skin test analyzing at least 100 cells to detect the two distinct cell lines, a more extensive analysis than typical chromosome testing.
Episodes like “Black and Blue Baby,” Hannah’s feature on “Mystery Diagnosis,” serve as vital educational tools. They underscore the complexities of medical diagnosis, the importance of persistent parental advocacy, and the potentially life-altering impact of rare conditions like mosaic Down syndrome. For those intrigued by medical mysteries and the journeys of families navigating complex health challenges, “Mystery Diagnosis” episodes offer both compelling narratives and valuable insights into the world of healthcare. To learn more about mosaic Down syndrome, resources are available through the International Mosaic Down Syndrome Association (IMDSA).
