Text Alternative of Video: Rare Disease Research at NICHD: Cushing Syndrome

To view the original video, please go to https://youtu.be/qlYD_Yohwto .

Video/ Graphics Audio

NIH/Eunice Kennedy ShriverNational Institute of Child Health and Human Development logo
Annie Ribas, a young girl, plays with tiles from a board game, stacking them on a table. She is inside The Children’s Inn at NIH. She is smiling. Narrator: Annie Ribas is a healthy, thriving young girl. She is also a rare disease survivor.
Photos of a young Annie seated and with her arms above her head in a heart-shape. Narrator: Her symptoms began around age 5, when she stopped growing, but started gaining abnormal amounts of weight. 
(Camera cut) Kristine Ribas is seated in a playroom.


Kristine Ribas
Annie’s Mom
Kristine Ribas: We would go to put on her school clothes and nothing fit. She was upset by that and she, you know, was hearing from her friends…
Photograph of Annie in her school uniform against a brick wall. Kristine Ribas: …at school. And then, she started developing these chronic headaches.
(Camera cut) Kristine Ribas Kristine Ribas: Not like, ‘My head hurts, but I’m still gonna go play with my friends.’ It was, ‘I have a headache; I have to sit out and do nothing.’
(Camera cut) The front of Building 1, with the National Institutes of Health written over the columned entrance. Narrator: In search of answers, the Ribas family came to the…
Photograph of the Clinical Center Building 10 South Entrance sign. Narrator: …National Institutes of Health where Annie was diagnosed with Cushing syndrome…
(Camera cut) Researcher in white coat with medical gloves seated at a lab bench. Narrator: … a rare disease caused by the overproduction of...
(Camera cut) Rotating chemical structure of cortisol. Narrator: … cortisol, a hormone that regulates metabolism and our response to stress.
(Camera cut) Dr. Maya Lodish seated in her office at the NIH Clinical Center.


Dr. Maya Lodish
Associate Research Physician, NICHD, NIH
Dr. Maya Lodish: When I saw Annie, she, she struck me as a little girl with the classic signs and symptoms of Cushing’s.
(Zoom effect) Photograph of Annie before she was diagnosed, standing beside her older sister. Dr. Maya Lodish: And then, looking at her growth chart is really where the proof is…
(Camera cut) Dr. Lodish in her office. Dr. Maya Lodish: …because there are very few disorders that cause children to stop growing yet continue to gain weight.
(Camera cut) Rotator machine running inside NICHD lab at the NIH Clinical Center. Narrator: Doctors at the Eunice Kennedy...
(Camera cut) Dr. Constantine Stratakis inside lab with researcher. Narrator: …Shriver National Institute of Child Health and Human Development…
(Camera cut) Researcher removing gels from apparatus. Narrator: …discovered that the excess cortisol...
(Camera cut) Membranes incubating on rotator machine. Narrator: …was the result of a small tumor on Annie’s pituitary gland.
Graphic image of pituitary gland inside a human brain. Narrator: The tumor, which was the size of a pencil tip…
(Camera cut) Dr. Constantine Stratakis inside lab with researcher. Narrator: …would need to be removed, but it wouldn’t be easy.
(Camera cut) Dr. Stratakis inside lab.


Dr. Constantine Stratakis
Scientific Director, NICHD, NIH
Dr. Constantine Stratakis: Doing surgery on the pituitary gland of a child is extraordinarily rare, and the expertise for that type of surgery can only be found in a few places in the world.
(Camera cut) Gloved hands of a researcher pipetting samples. Dr. Constantine Stratakis: One of those places, being, fortunately…
(Camera cut) Researcher joins another colleague seated at lab bench. Dr. Constantine Stratakis: …the NIH CRC.
(Camera cut) Exterior of the NIH Clinical Center. Narrator: The CRC, or Clinical Research Center, in Bethesda, Maryland…
(Camera cut) Researchers removing tubes from centrifuge. Narrator: … is one of the largest research hospitals in the world.
(Zoom effect) Photograph of Annie seated with sunglasses on, inside lab. Narrator: Annie visited the CRC to participate in a study of Cushing syndrome…
Photograph of Annie on stretcher inside NIH Clinical Center Narrator: …and undergo surgery to remove her microscopic tumor. The results were striking.
(Camera cut) Mrs. Ribas seated in playroom. Ms. Ribas: I’d say within six weeks, there was a noticeable improvement. I mean, her appetite had practically disappeared, so she was rapidly losing weight. The headaches were gone. They never came back actually, ever
(Camera cut) Dr. Lodish seated in her office. Dr. Lodish: Almost two years later, she’s not on any medication. She’s growing beautifully, and her body is able to make all of the hormones that the pituitary normally makes to help her to grow, to help her thyroid to function, to help her go through puberty on its own. So, we consider this a wonderful outcome.
(Camera cut) Annie in the Learning Center at The Children’s Inn at NIH, nodding her head and smiling, laughing with Dr. Lodish. Narrator: In the beginning of first grade, when Annie was in treatment, she missed 33 days of school. By the end of…
Photograph of Annie in communion dress at church. Narrator: …the second half of that year, she had only missed two days.
Photograph of Annie with her parents and sister. Narrator: She also grew two inches.
(Camera cut) Dr. Lodish in her office. Dr. Lodish: After the surgery, we routinely bring kids back six months...
(Camera cut) Dr. Lodish and Annie walking through the hallway of The Children’s Inn at NIH. Dr. Lodish: …and a year after, and at NIH, you always had…
(Camera cut) Dr. Lodish in her office. Dr. Lodish: …this name badge for security purposes to get on the campus and the kids will have their name badge from before surgery…
(Camera cut) Annie smiling, playing a board game with Dr. Lodish. Dr. Lodish: …and it’s really, you know, fun to look at how have they changed over time, and you almost can’t recognize them when they come back, and they’re growing and they’re thriving and it just, it’s…
(Camera cut) Dr. Lodish in her office. Dr. Lodish: …it’s really rewarding to be part of that.

NIH/Eunice Kennedy ShriverNational Institute of Child Health and Human Development logo appears against a black screen.

Music: “Headway” by Kai Engel

Used & edited under Creative Commons license


Use does not imply endorsement or recommendation of U.S. government
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