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A Waiting Game & Another Diagnosis
Manage episode 389003390 series 3051496
المحتوى المقدم من Grey Genetics. يتم تحميل جميع محتويات البودكاست بما في ذلك الحلقات والرسومات وأوصاف البودكاست وتقديمها مباشرة بواسطة Grey Genetics أو شريك منصة البودكاست الخاص بهم. إذا كنت تعتقد أن شخصًا ما يستخدم عملك المحمي بحقوق الطبع والنشر دون إذنك، فيمكنك اتباع العملية الموضحة هنا https://ar.player.fm/legal.
After losing her first son Alex at only 10 months of age to a rare genetic condition, Jill and her husband went on to have four more children. Jill’s youngest daughter, Katie, was always small from birth. By the time she was 15 months old, it was obvious that Katie’s growth was significantly delayed. By age 2, she had started on human growth hormone. At the time that we recorded this interview in 2021, Katie was 5 years old and had a suspected diagnosis of Russell Silver syndrome. Katie has since had genetic testing done and has been diagnosed with 22q Deletion syndrome. Jill shares how her experience with Alex meant that with each of her children, she felt like she was waiting for the other shoe to drop. She also discusses how her experience with Alex prepared her to be an excellent advocate for Katie.
Links and Resources
To hear part one of Jill's story about her first child, Alex, listen to the last episode: Breaking Taboos & Leaving Room for Grief
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
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