Phenylketonuria is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase.
Have you heard of any other scholarship opportunities for students with PKU or other rare diseases?
I am collecting anecdotal information from people with personal experience with PKU for my Senior Honors Thesis in American Studies at Tufts University. My thesis An Examination of Eugenics in Genetic Medicine: A Case Study of PKU examines PKU patients’ access and participation in genetic medicine. I wish to include personal stories to give my thesis a more personal, human perspective beyond my institutional analysis of genetic medicine. Would anyone in this community at RareShare be willing to participate in this study and share your personal experience? Interviews will take approximately one hour and be conducted by phone. They will be conducted in private and information will remain confidential. If you are interested learning further information about participating please contact me by email at Jamie.Love-Nichols@tufts.edu. Thank you!
Thanks--I appreciate the advice! The vegan excuse may come in handy.
It can be hard to have a easy fix. A lot of it depends on what her diet is like some people have milder cases of PKU and therefore can eat more over all. However one thing that might work is to try to eat really low protein things so that she could eat more. Also being that she preteen and growing she may need her formula to change. As far as cheating it is hard not to, the temptation is really tough. First I guess acknowledge how hard it can be and be positive about what she does right. It is also an important time to let her feel more in charge of her own diet. Also important to make it clear to her that cheating hurts only her and no one else. It is also important to help and explore ways to help her be "normal " around other kids.As happy as she should be with her self, it is a time where peer pressure can be overwhelming and having a plan for what to do before being in those situations is helpful. Just F.Y.I when I don't feel like sharing my disease with people I just say I am a vegan who is allergic to a lot of foods.
Hi, I'm actually a member of a different community on this website, but I have a close relative with PKU. She's a preteen, and is having some trouble with being hungry and cheating with the diet. My sense from what I've read about PKU is that hunger is pretty common given what the diet is like. Do you have any tips for dealing with the hunger and the temptation to eat verboten foods? Thanks so much!
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.
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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.
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