The Story of Ayla - Saving Lives Before Birth

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Demystifying Medicine McMaster

Demystifying Medicine McMaster

4 ай бұрын

16-month old Ayla was diagnosed with Pompe disease when she was still in her mother’s womb. Pompe disease is a rare and deadly genetic disorder that results in heart and muscle defects. As Pompe disease has a high mortality rate, researchers and doctors were hoping that the novel treatment option of in utero surgey was viable. In utero treatment allows for the symptoms of a genetic disorder to be alleivated before a baby is born. Therefore, this video follows Ayla’s story and how she taught the world that we could save lives even before birth.
This video was made by McMaster University students Vicky Chau, Chrisann Eaton, Megan Gallagher, and Jujhar Jhajj in collaboration with the Demystifying Medicine McMaster Program.
This video is for general and educational purposes only. Copyright McMaster University 2023.
References:
Favaro, A. (2022, November 9). Rare, deadly genetic disease successfully treated in utero for first time. CTVNews. Retrieved February 21, 2023, from www.ctvnews.ca/health/rare-de...
Genetic disorders: What are they, types, symptoms & causes. Cleveland Clinic. (2021). Retrieved February 21, 2023, from my.clevelandclinic.org/health....
Infusionteam. (2021, April 14). What is enzyme replacement therapy and how does it work? Infusion Associates. Retrieved February 22, 2023, from infusionassociates.com/what-i...
Kaiser, J. (2022, November 9). Enzyme treatment given directly to fetus prevents symptoms of rare ... Retrieved February 21, 2023, from www.science.org/content/artic...
Kohler, L., Puertollano, R., & Raben, N. (2018). Pompe disease: From basic science to therapy. Neurotherapeutics, 15(4), 928-942. doi.org/10.1007/s13311-018-06...
Marisa Wexler, M. S. (2023, February 16). Pompe disease: Symptoms, types, treatment. Pompe Disease News. Retrieved February 21, 2023, from pompediseasenews.com/what-is-...
Mayo Foundation for Medical Education and Research. (2021, March 24). Fetal surgery. Mayo Clinic. Retrieved February 21, 2023, from www.mayoclinic.org/tests-proc...

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