Periventricular Heterotopia is a rare disorder where nerve cells do not situate properly during the early development of the fetal brain, potentially resulting in seizures and developmental delay.
Just launched a new website to unite families affected by PVNH: www.pvnhsupport.com
If you are looking for other families affected by PVNH, visit:http://www.facebook.com/?ref=home#!/group.php?gid=195006047174&ref=ts I would love to hear from you as would the other 16 families I am in contact with all around the world. Thank you, Yolaine
My daughter Ella was born healthy in Aug '08 and by 2 months had developped respiratory distress. Xrays showed lung problems and CT scan confirmed she had end-stage emphysema on both lungs. When hospitalized (3 times for a total of almost 6 months), countless tests were done to diagnose her. All came back normal. It was suggested her illness migth be due to Filamin A mutation. Ella required oxygen therapy, intubation, then BIPAP, then intubation again and finally a tracheostomy. Ella fought to live as much as she could but the more she grew, the worse her lungs became. She went to sleep peacefully and received her wings on March 27, 2009 at the age of 7 months and 20 days. The autopsy confirmed that Ella had X-Linked PVNH. I have since devoted my free time to finding families affected by PVNH. I am in contact with 9 as we speak from all around the wold and there are another 9 overseas that I am about to reach. Let me know what your story is. We can then pool our stories, symptoms and details to offer researcher a case and hopefully find a cure. 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.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
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Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.