Chapters Transcript Video Nevada Family Finds Treatment for Skeletal Dysplasia This is Elliott Gould being welcomed home from the hospital by his large family in Las Vegas. His siblings waited a long time to meet their new brother, who spent nearly a month in the Cedar-Sinai neonatal intensive care unit after birth. Genetic testing in utero confirmed achondroplasia, the most common form of dwarfism. Achondroplasia is caused by a mutation in a gene called FGFR3. And that gene causes the cells to stop growing. For him, when he was born, he looked like he carried the diagnosis of achondroplasia. He had shortened limbs, and he also had a larger size head. He had some low tone. Doctor Sanchez on that first call was able to, I was able to answer a lot of questions, you know, and some of those big questions that are very emotional were. Are we giving life where he's gonna have a good quality of life at Cedars-Sinai, the Goulds found a team of doctors, including Doctor Moise Daniel Pore, known for his surgery with achondroplasia patients. Daniel Pore performed emergency surgery on Elliot at the narrowed opening of the skull to relieve pressure. In someone with Achondroplasia that brain magnum is very narrow and elliptical and so as the spinal cord comes here and is attached attached to the brain stem there's pressure, constant pressure, uh, and kinking of that brain stem and causes damage and scar tissue, uh, in that area, uh, and additionally with with movement sometimes they can have an acute cut off of the blood flow to the brain stem and even result in sudden death. The surgery went well, and there was more good news. Elliot qualified for a drug, a daily shot that promotes bone growth, just recently approved for infants with achondroplasia. Hopefully it'll allow him to get the signal to start growing again. And not only should it affect the long bones, but probably all bones and allow the rest of the anatomy to adapt the way the way it should appropriately. The family meets with Doctor Sanchez every 3 months to monitor the drug's progress. He's the reason we have it, um, and we did the first injection here, they walked us through it. With some of the nursing team and um we knew we'd come to the right place. And we've started it in in February and it's already stabilized. It's had growth for Kelly and John Gould, the team approach at Cedars-Sinai has made all the difference and very worth the round trip from Las Vegas. We were fortunate enough to be able to find cedars, speak to people at Cedars, to come out here where we needed to come out here. Um, but the idea that you have to see that many specialists to handle one condition, daunting, probably an understatement. I mean, it's 67 specialists at a different time of his life. There's, there's other ones, um, so we just, what, what was amazing is the communication here, I think, is, is can't be, uh, overstated. Things are getting better now. these they say the first few years are really hard, which they are. I always said I'm not gonna lie, they've been really hard. Um, but I'm looking forward to, you know, seeing Elliot happy and like. See you thrive. Created by
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