Tara was celebrating her birthday at Disney Land and grabbing a bite to eat at Pizza Planet when her phone began to ring. It was the genetics office calling to give the results from her daughter, Emmalyn’s genetic test. She remembered thinking at that moment that if her daughter had 22q she didn’t want to know about it. She didn’t want her baby to be labeled or for others to look at her differently. Her husband told her not to answer but Tara did. The nurse on the other line confirmed that her daughter had 22q deletion syndrome. This was the start of Emmalyn’s 22q journey.
Throughout this episode Tara shares her and Emmalyn's 22q story. She shares how Emma was rushed into emergency open heart surgery at 6 weeks old, challenges with feeding and finding the best school environment for her daughter.
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Within this episode we discussed:
- Right Aortic Arch (RAA) is a type of aortic arch variant defined by the way in which the aortic arch travels to the right of the trachea. The aorta is the main artery that delivers oxygen rich blood to the body. The aortic arches form from the aortic sac and develop into several pairs of arches.
- 1% chance she will have this vascular ring - closes off the esophagus and makes feeding difficult.
- Vascular rings are malformations of the aortic arch in the main blood vessel that leads from the heart. Because of the malformation, the aortic arch and its branches partly or completely encircle the windpipe (trachea), the esophagus or both. The esophagus is the tube that leads from your mouth to your stomach.
- Cleft palate are birth defects that occur when a baby's lip or mouth do not form properly during pregnancy. The cleft palate was the reason Emma wasn’t able to keep anything down.
- Feeding reflux out her nose, could not keep anything down.
- Emergency 9 hour Open Heart Surgery at 6 weeks old, Emma was bleeding from 3 holes during her entire pregnancy.
- Tubes in the ears and over 50 ear infections.
- Cleft Palate repair and VPI. Steroids helped her after the surgery to allow her to swallow liquids and recover.
- Alternative Communication Tablet which allowed her to communicate and begin speaking on her own.
- Picky eater.
- IEP and school placement struggles to get all services covered.
- Dealing with PTSD from traumatic hospital experiences.
- Finding your support group.
- "I know she has special needs but she is capable."
- "She is the strongest person I know."
- "She is a 1% chance kid now."
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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