Children's Hospitals Today - Winter 2014 - (Page 4)

hospitalrounds FIRST PERSON R E S E A R C H U P D AT E s Children's Hospital Colorado researchers discovered a new disease related to an inability to process vitamin B12. Cobalimin X, or cblX, is a rare disorder that can cause developmental delay, epilepsy, anemia, stroke, psychosis and dementia. Researchers hope the discovery will help doctors diagnose the disease and lead to prevention or treatment. Children's Hospital Los Angeles will participate in a nationwide drug study evaluating the effects of metformin, a medication that has been shown effective for treating type 2 diabetes. The drug will be tested in combination with insulin therapy in overweight individuals with type 1 diabetes over a period of six months. The patients, ages 12 to 19, will be monitored for blood glucose control and insulin sensitivity with the goal of developing a successful treatment for this growing subset of patients. 4 children's hospital s today Winter 2014 While living with a chronic blood disease, a researcher hopes to help improve quality of life for others. By Robert Mannino I have ß-thalassemia major, a genetic and chronic blood disease characterized by abnormal red blood cell production, resulting in severe anemia. I've spent a lot of time in the hospital throughout my life and deal with numerous medical devices, diagnostics and therapies. The only available treatment is to receive a blood transfusion every three weeks while undergoing blood tests such as complete blood counts (CBCs) and ironlevel measurements on a regular basis to monitor my disease and the effects of my transfusions. Each transfusion is an ordeal, requiring me to miss an entire day of school or work. Although the treatment is time consuming, if it weren't for prior research in this area, patients with ß-thalassemia major like me and my younger brother Kevin, would not be expected to live past childhood. I've seen what medical innovation can do to improve the life of a patient. In patients undergoing chronic transfusion therapy, excess iron accumulates because of the blood transfusions and needs to be removed (chelated) on a regular basis. Only 10 years ago, medicine to perform this chelation needed to be injected subcutaneously overnight. This meant wearing a pump to bed every evening and sleeping in the same position to minimize discomfort and bruising from the continuous injection. Over the last 10 years, I've watched the infusion pump shrink until, finally, a pill form of chelation therapy became available. My experience and the treatment I received at the Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta inspired my interest in science. I decided to devote my life to understanding the disease that afflicts me, and I want to help others who have it. I found a research opportunity in the bioengineering hematology lab of Wilbur Lam, M.D., Chrissie Gallentine The Children's Hospital at Montefiore and the University of Michigan's C.S. Mott Children's Hospital published new findings in the American Journal of Medical Genetics. In a survey, primary care pediatricians who are part of the American Academy of Pediatrics Quality Improvement Innovation Networks assessed their comfort level ordering genetic tests for patients, attitudes toward genetic medical care, and choices regarding taking family histories. The majority reported ordering few genetic tests per year, excluding newborn screening, which is federally mandated. Half felt competent in providing care to patients with genetic disorders, and 13 percent strongly agreed they discussed the potential risks, benefits and limitations of genetic tests with families. Life imitates research Ph.D.-affiliated with Emory University, Children's Healthcare of Atlanta and Georgia Institute of Technology-conducting research on inherited blood disorders similar to mine. Over the last two years, I've led and worked on research projects where I developed tools to diagnose and research the pathophysiology of sickle cell disease. The disease interests me because the mutation causing it is similar to ß-thalassemia major. My goal is to use my degree and the skills I attain in graduate school to become a biomedical engineer, translating research into new diagnostics and therapies for blood diseases. I hope to focus on developing new tools to study hemoglobin diseases and to improve patient outcomes. Robert Mannino is a graduate of Georgia Institute of Technology and a researcher who is pursuing a Ph.D. in biomedical engineering. What inspired you to work in children's health care? Share your story. Email magazine@childrenshospitals.org. childrenshospital s.org http://www.childrenshospitals.org

Table of Contents for the Digital Edition of Children's Hospitals Today - Winter 2014

Children's Hospitals Today - Winter 2014
Contents
Edito's Note
President's Message
First Person
Everyday Hero
Reader Commentary
Helping Kids Affected by Burns
Behind the Numbers
Hands On
Healing Spaces
Board Member q&a
Public Policy Update
Child’s Story

Children's Hospitals Today - Winter 2014