The last day of February is internationally recognized as Rare Disease Day. This year, Baylor College of Medicine and Texas Children’s Hospital hosted Houston’s inaugural Rare Disease Day at The Health Museum.
A disease or disorder is considered rare if it affects less than 200,000 Americans at any given time. Presently, there are 30 million Americans living with a rare disease and approximately one in 10 people in Texas have a rare disease.
“When you put together all of the information we have about rare diseases, you realize that rare is common,” said Carlos Bacino, M.D., director of pediatric clinical genetics services at Texas Children’s.
Bacino and Texas Children’s specialize in treating rare diseases and understanding their causes. The majority of rare diseases are a result of genetic mutation, although some are caused by infection. Advancements in medicine and technology have helped determine causes of rare diseases and provide effective treatment plans.
“As we understand more about these rare diseases, we understand the genetic defect and we can go back and understand how the gene or genes work and interact to reach the best therapy options for our patients,” Bacino said.
Amberly, a patient at Texas Children’s, was diagnosed with phenylketonuria or PKU last year. PKU is a genetic disorder that increases the levels of phenylalanine in the blood. Phenylalanine can be found in all proteins, milk and artificially sweetened products. If left untreated, PKU can cause severe intellectual damage and many other health issues.
“No one in our family has ever had a genetic disorder, so Amberly’s diagnosis was very hard for us to understand,” said Andrea De La Torre. “Coming from a Hispanic background, we believe that as she gets older, it will go away, the reality is that it will never go away and we need to learn how to teach our family to feed her properly.”
Amberly’s family started an organization called My PKU Awareness to raise awareness and offer help to other families with PKU. They were one of the 26 booths at The Health Museum for Rare Disease Day. The other booths represented rare diseases and also provided a network of support for those impacted by rare diseases.
“In Houston there are only about 25 families that have PKU, and when you find out that your child has PKU, you feel like you are alone and you feel like you don’t know what to do or even how to feed your own child without hurting them,” De La Torre said. “I hope through our organization and events like this to help give families a point of context when they have all of these questions.”
Susan Fernbach, director of genetic outreach at Texas Children’s, organized the event to raise awareness about rare diseases and support for the people affected by rare diseases.