9-Year-Old Girl with Blood Disease That Occurs Once in Every 200,000 Births Highlights the Importance of “Rare Disease Day”

View larger with caption

That’s what first brought Taylor to Cohen Children’s Medical Center (CCMC) of New York, where she was diagnosed with Diabetes Insipidus (DI), a rare condition that occurs when the kidneys are unable to conserve water as they perform their function of filtering blood. The goal was to find out what was causing the DI, so Taylor began receiving yearly magnetic resonance imaging (MRI) scans to identify any changes in the pituitary gland. In March 2009, an MRI showed a change and an abnormal lesion on the left frontal lobe of the brain.

Histiocytosis, a general name for a group of syndromes that involve an abnormal increase in the number of immune cells called histiocytes, was mentioned as the reason for the changes on the MRI, and the probable cause of the DI. In March 2010, Taylor began having strange neurological symptoms. After other medical challenges and scares, it was determined that Taylor should begin chemotherapy in August 2010. Her treatment plan began with five days of chemotherapy and then three weeks off for a period of six months to one year. Taylor currently takes six different medications a day, and since August 2010, has undergone 10 MRIs, seven X-rays, two full-body X-rays, nuclear bone scans, neurophyschometric testing, two rounds of infusion therapy, and six rounds of chemo. She loves school and soccer, and smiles constantly.

During a news conference held on Thursday at CCMC, Taylor and her doctors discussed the physical and mental challenges of facing life with a “rare disease,” which is defined in the US as one that affects fewer than 200,000 people. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. Or, as many as 1 in 10 Americans are fighting a rare disease.

“We must be mindful of the fact that people living with rare disorders deserve the same medical consideration and support as those living with more prevalent diseases, such as cancer or other more common illnesses,” said Jeffrey Lipton, MD, chief of pediatric hematology/oncology at CCMC. “We are very proud of the fact that the doctors, nurses and social workers at this hospital are not only committed to working with such children and their families, but also to the idea that through ongoing research we will be able to help find the cures.”

For more information about childhood diseases, go to: www.northshorelij.com/ccmcny/home.

Contact: Michelle Pinto
[email protected]