Medical Stories - ADA-SCID: Maya's Story

Описание: Adenosine deaminase (ADA) deficiency is an ultra-rare disease that compromises an individual’s immune system. According to the National Library of Medicine, about 80% of individuals with this illness also have severe combined immunodeficiency (SCID), which further weakens their body’s ability to fight infections.

While she was pregnant with twin girls, Shakira discovered she and her husband, Sam, were carriers of ADA-SCID. Furthermore, one of their unborn girls, who they named Maya, had already contracted the disease.

In Watchung, New Jersey, Shakira and Sam share with Medical Stories their ordeal of raising Maya, who had to be isolated from others for a while after she was born. But despite this enormous burden, they find a way to help Maya overcome the dangers of her weakened immune system.

This episode also features in-depth commentary from renowned expert Morna J. Dorsey, MD, MS, Director, Pediatric Immunology Center, University of California, San Francisco.

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Chapters:
0:00 Shakira's Unusual Pregnancy
2:05 What Is ADA-SCID?
3:35 The Importance of an Early Diagnosis
5:08 Maya's Treatment and Isolation
6:28 Maya's Other Condition
7:28 How ADA-SCID Is Managed
9:20 The Emotional Burden of ADA-SCID
10:30 Hope for the Future