Hannah Hannum was diagnosed at 3 years old with mosaic Down syndrome. Her story was debeuted on Discovery Health channel's Mystery Diagnosis on April 6, 2009.
Meet Hannah
My husband Mark and I were so happy when our daughter Hannah was born. But not long after her birth she began have some problems that caused concern. She had matted eyes after birth that were treated with cream, then she was given glucose because of her large 9 lb birth weight. These concerns were quickly passed over, but more problems began to be a concern. However, her health continued to be a concern when she couldn’t hold down her breast milk or even her formula and had severe bouts of constipation.
Hannah reached all of her milestones on time, but her health continued to be a problem as she was always sick with one infection or another. At two years old, I began to question some of her physical characteristics. When I looked at her 2 yr old pictures I wondered if she had Down syndrome, but quickly pushed it out of my mind because surely the doctors would have known.
At 2 ½ years old Hannah began having some really bad bruises that we had no explanation for. And when the bruises would not go away I asked her doctor about them. As the months passed, Hannah’s health continued to decline and just days before her third birthday we discovered that she was indeed very sick with a high fever and racing heart beat. After a battery of tests, we discovered that Hannah had a rare type of Leukemia called Myelodysplastic syndrome.
We spent the next few months in and out of children’s with blood and platelet transfusions, chemotherapy stays then home to recover and back for more chemotherapy and remain for her counts to recover. Around July we were sent to the national registry to find a match for her to have a bone marrow transplant.
While checking further into her bone marrow it was discovered that Hannah has a translocation of her 1 & 19 chromosomes and with further looking it was discovered that she had a percentage of cells with a third copy of the 21st chromosome. This is when Hannah was diagnosed with mosaic Down syndrome.
We discovered that more than likely it was because of these extra 21st chromosomes that she developed Leukemia. Individuals with Down syndrome and mosaic Down syndrome have a 10-15 % higher chance of devleoping Leukemia than the general population.
It was determined that the treatment that she was receiving for her Leukemia was highly toxic for a person with mosaic Down syndrome and under most circumstances she would not have lived through this treatment! But, because she was responding to these high levels of chemotherapy, the doctors decided to continue with this treatment and not do the transplant that would have surely killed her.
I searched the Internet on DS and MDS and found International Mosaic Down Syndrome Association and learned of the differences, similarities and WHAT IT WAS.Yes, her doctor told us the extra 21st chromosome was only in a percentage of her cells and that meant she had mosaic Down syndrome and no services could be offered to her through the hospital or DS society because she was not delayed and had such a small percent they doubted she would need services. Through the IMDSA I learned otherwise and now know she should be followed by certain doctors or specialists and monitored since we do not really know how these cells will effect Hannah as well as we won’t know how the chemotherapy effects her through her life. I learned much more from the IMDSA about my daughter in the short time since her diagnosis than the DS doctor told me or by searching information. I know more information needs to be out there in a public way about MDS. Doctors, nurses and the public need more information and how or when to test a child or adult for MDS, how someone who gets a diagnosis should be followed or watched to see what might develop or might they be at higher risk for.
My daughter is a mystery and unique and has taught doctors, nurses and even me along the way just by her being her and has opened my eyes to following my instincts and asking questions and searching for answers.
Hannah has reached a major milestone; she has hit her 5th year in remission with no complications and is considered “cured”. We will watch her throughout her life for things that may be related to toxic chemotherapy treatments, her translocation, her mosaic Down syndrome, and what makes her Hannah. With the IMDSA I know we have a place to turn to for questions and a way to research answers and raise awareness about MDS, yes they do exist! I hope this is helpful and even if it only helps one person, I have done my job.
Holly Hannum-Mom to Hannah