Description

In 1990 Judi was sent from one doctor to another, trying to figure out why her beautiful baby girl, Chelsea was getting sick all the time. It wasn't until she went to DC to meet with a geneticist that she got the answer she was looking for. She was waiting in the exam room and a man walked past her door, stoped and then continued walking past. That same man came back a few moments later with a napkin in his hand. He introduced himself at her geneticist and handed the napkin over to Judi and said, "I think this is what your daughter has this." The napkin said, Velocardiofacial syndrome, or as we know it today as 22q.

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Within this episode we discussed:

• VSD, aneurysm, right aortic arch, distorted aortic valve, cervical aorta
• Mitral valve prolapse is a type of heart valve disease that affects the valve between the left heart chambers. 
• A cystic brain lesion is a fluid-filled sac in the brain that usual contains cerebrospinal fluid.
• ⁠⁠22q Family Foundation ⁠⁠ ⁠⁠www.22qfamilyfoundation.org
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• DC Geneticist DR. Rosenbaum
• Kawasaki disease (KD), also known as Kawasaki syndrome, is an acute febrile illness of unknown etiology that primarily affects children younger than 5 years of age.

• The Positive Vibe Foundation
• "You were meant to change people's lives."

If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

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