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Hi,
Our 6 day old son has been diagnosed with CAH. I was just wondering if there is anyone out there that can tell
me what life is like with this condition and does it affect you in anyway that stops you from doing anything. Any information from a personal perspective would be much appreciated.
Gina
Hi, my name is Jay Desai and I am currently a research assistant at the National Institutes of Health Clinical Center. My lab focuses primarily on studying Congenital Adrenal Hyperplasia (CAH), an autosomal recessive disorder affecting the adrenal steroidogenesis pathway. As a research assistant, I have had the opportunity to meet with patients during clinic visits (currently telehealth) and observe the clinical features associated with the disease. One of these clinical features being the hormone effects associated with excess androgen production.
These hormone effects include acne, weight gain, and hirsutism. While these effects may be prevalent in all those who have the disorder, I am interested in learning how these effects may uniquely impact South Asian women. As a South Asian male, I am aware of the many stringent beauty standards that women in my society face. Furthermore, I recognize the negative consequences that misinformation may construe - especially about sensitive subject material such as excess androgen symptoms in women. As a result, my best friend, Jahnavi Kola, and I are aiming to create a website to share stories from South Asian women affected by CAH and other excess androgen disorders. Ultimately, we hope to shed light on these issues in efforts to not only empower South Asian women affected by this disease but anyone facing pressure to conform to mainstream norms. Are there any of you who would be willing to set up a call to talk about your experiences? If you do not have a South Asian background, we would still love to hear about your experience. Everything you say will be confidential if you so prefer and will not be published without your consent. If interested, please reach out to me at jayhemant@gmail.com or Jahnavi Kola at jahnavi.kola98@gmail.com. Thank you.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
This means that every cell in my body carries two mutations for this defect. Sometimes this feels quite surreal....
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Created by Gabs143 | Last updated 12 Jul 2022, 10:40 AM
Created by Gina08 | Last updated 15 Dec 2021, 06:30 PM
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