According to a story from Tablet Magazine, Emily Kramer-Golinkoff is a 33 year old woman who is living with cystic fibrosis, a rare disorder that primarily affects the lungs. Emily is not the average cystic fibrosis patient however; she is an Ashkenazi Jew and her cystic fibrosis was caused by a rare mutation that almost exclusively appears in people from this ethnic group.
About Cystic Fibrosis
Cystic fibrosis is a genetic disorder that can cause systematic effects throughout the body, but it is most characterized by the buildup of abnormal, sticky, thick mucus in the lungs that causes a progressive decline in lung function. This mucus also provides a fertile habitat for bacteria, making the patient far more vulnerable to lung infections. Many patients must take antibiotics for much of their lives. There are a variety of mutations in the CFTR gene that can cause cystic fibrosis. Symptoms of the disease include the buildup of mucus, difficulty breathing, male infertility, clubbed digits, sinus infections, fatty stool, and poor growth. There are treatments and procedures available to prevent infections and maintain lung function, but there is no cure for the disorder. Most patients survive into their 40s. To learn more about cystic fibrosis, click here.
New Treatments Needed
Emily was diagnosed at just a year old, and never went out of her way to hide the fact that she had cystic fibrosis. However, she never tried to make it a central part of her identity either. Now, it is unclear what lies ahead for her. As she is now in her thirties, her disorder has progressed substantially. She must receive treatment every day for several hours, and her lung capacity is a meager 35 percent. Recently, Emily has started a nonprofit called Emily’s Entourage.
What makes Emily’s case difficult is that the most cutting edge developments in treatment for cystic fibrosis that have appeared lately are of no use to her. These latest drugs are gene therapies that are meant to work on the most common types of CFTR mutations that cause cystic fibrosis, but the one she has, a so-called “nonsense” mutation, is not affected by these treatments.
Emily’s Entourage is dedicated to supporting research and treatment specifically for cystic fibrosis caused by nonsense mutations. To learn more about Emily’s nonprofit and offer support, click here.
