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International Mosaic Down Syndrome Association

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Mystery Diagnosis

06 Apr 2009 8:00 AM | Anonymous

Three Year Old is Diagnosed With Two Mysterious Conditions 
Franklin, TX 3,April 2009 For Immediate Release-- On 6, April 2009 at 10pm EST, American's Discovery Health Channel's Mystery Diagnosis will air a story concerning a family who had two mystery diagnosis in one.

2 yr old, Hannah Hannum began getting unexplained bruises throughout her body while exhibiting increasing infections that were easily explained away with childhood illness. Her mother Holly Hannum continually brought her concerns to her doctor, but it was not until young Hannah became lethargic that doctors took notice. 
Just days before Hannah's 3rd birthday, she was diagnosed with a rare form of Leukemia-Myelodysplastic syndrome.(MDS) Although children with Down syndrome are at a higher risk of developing this, and other forms of Leukemia, young Hannah was not diagnosed with Down syndrome, so therefore the cause of the Leukemia was unknown. "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." recants Holly Hannum "Then we began looking for bone marrow matches to give Hannah a transfusion." 

In preparing for the bone marrow transplant, The oncology team at CHOP discovered not only the mystery behind Hannah's rare Leukemia, but also an almost fatal mistake in their treatment protocol. Hannum was diagnosed with mosaic Down syndrome . Mosaic Down syndrome occurs when a percentage of the cells have an extra copy of the 21st chromosome and the remaining cells are unaffected. Because individuals with mosaic Down syndrome have a percentage of these extra chromosomes, they are at risk for the same health problems that may occur in those with Down syndrome. Individuals with Down syndrome who have Leukemia are treated with a different protocol than those without this extra chromosome. When using the same chemotherapy treatments, the levels are considered toxic to the body and many patients will die with the wrong treatment. "It is fundamentally important to identify those with AML/MDS who have mild or normal phenotypes associated with DS for clinical diagnosis and management" The CHOP oncology team reported. Kristy Colvin, president of International Mosaic Down Syndrome Association (IMDSA), expressed her enthusiasm on the upcoming Mystery Diagnosis episode. "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." 
Because people with mosaic Down syndrome often do not exhibit the physical features associated with Down syndrome individuals often go throughout their adulthood unaware of this chromosome anomaly. A blood and/or skin test is required to discover these extra chromosomes and IMDSA recommends that at least 100 cells are analyzed to discover the two cell lines, instead of the typical testing that only analyzes 2-5 cells. 
Check your local listings for all times of Discovery Health's Mystery Diagnosis episode "Black and Blue Baby" International Mosaic Down Syndrome Association (IMDSA) provides support, information and research for those affected by mosaic Down syndrome throughout the world.

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