Episodic Ataxia, Type 2 is a rare genetic disorder characterized by sporadic episodes of severe discoordination caused by mutations in CACNA1A.
I am experiencing one of the worst episodes ever in my life. It started quite innocently and without the usual triggers. My eyes rolled to the upper left in my head while my entire body felt a wave of dizziness so bad that I thought I would faint. Luckily, I was already lying in bed or I might have fainted. After that, the dizziness was so intense that I could hardly move a muscle without ripples of painful dizziness rolling through my body. That was four days ago and I am still feeling the effects. I am still getting waves of dizziness when I move and feelings of nausea when I try to eat.
I am so tired of being sick! All I want to do is get up and get on with my life. This is such an exasperating disorder and steals so much of my life away. It’s so difficult to explain to people that I can’t go anywhere or do anything because I can’t walk or see straight. People are sympathetic for a while but then they start to wonder if you are just faking to get out of doing things. Sometimes, I just want this whole thing to be over with...
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.
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