My name is Cleo Bougatsos, and this is my daughter Irene Bougatsos. From the age of two, every other month she’ll be on antibiotics because she would have a lot of bronchial infections. At least once a year, she would get pneumonia. We were in and out of the hospital for almost like two years, doing different tests, biopsies of the lymph nodes. And they really came to no definitive
answer on what was causing her lymph glands to swell up like that. I feel sick. I am tired. She thought it was normal for her to be taking medicine all the time because she was constantly sick. Just the past year again, the glands started to swell up again. One of our doctors in New
York, he was the one who suggested that we come down to the NIH. They actually already knew what Irene
had. PASLI disease is really quite
exceptional among genetic diseases because identifying the genetic lesion
directly pointed us to what’s potentially a more specific and
targeted treatment. Genetic diseases are full of examples
where the causative gene was identified 20 or 25, 30 years ago, but few if any gains in effective
treatment have been made in the intervening years. The NIAID Clinical Genomics Program is a new program that is just taking shape within the institute
to enable patients like the one we’ve just met to learn the molecular basis of their
disease. And that helps their doctors treat them
much more effectively. The day they walk in, we consent them and start their genetic workup. So mutation analysis and confirming the suspected mutation is the center of our work. She’s feeling much better, that’s what she tells us, right? “Yup.” And going to school, you’re able to do your PE class without any problem? “Yeah.” Knowing the genetic defect directly
pointed to ways to modify that pathway that would
potentially help the kids, and that’s truly the holy grail of genetics and
what so many diseases don’t have. One of the great advantages of NIAID is that we are able to closely align basic science researchers with clinical investigators. NIH is an ideal environment to do that because all the patients come in under study protocol, and the whole team is devoted to solving those diseases. We started the treatments with the doctors
here. Her teachers were amazed. I think she only had like, maybe a handful
absences compared to maybe 30 or 40 absences in the
previous years. The school nurse told me that she did not even come down once this year to ask for her inhaler. So that was like a big, positive thing for us.