One Family’s Journey With a Rare, Fatal Disease
Layla and Angel Martin – sisters ages four and three – have infantile neuroaxonal dystrophy (INAD), an extremely rare disorder which affects the nervous system. There is no cure for INAD.
Doctors at Cincinnati Children’s spent more than a year attempting to determine what was causing the sisters’ bodies to deteriorate. In 2014, they found the faulty gene that caused their disease. Although the disease is incurable, Cincinnati Children’s is making strides to change this by partnering with the drug maker, Shire, to specifically seek therapies for rare diseases.
“It is hard to raise money for rare-disease research,” said Dr. Tracy Glauser, an epilepsy specialist and associate director of Cincinnati Children’s Research Foundation. “However, once people understand the importance of investigating and studying rare diseases, we get a better sense of why raising money is important. It’s not just for the people who have a rare disease. But it also serves as great insight into other diseases by understanding a pathway that has gone wrong and then developing a treatment that potentially can apply to other diseases.”
Learn more about INAD, the Martin sisters’ story and rare-disease research at Cincinnati.com.