Mitochondrial Diseases are a group of rare disorders relating to the mitochondria.
hi, there. Does anyone access this community often? susan
My daughter, Lilly, was diagnosed with a complex IV mito disorder at 10 months. She died in April when she was 20 months old. I would love to share with you our journey or help with any questions, even though the diagnosis is a little different. I think its really great that you were able to identify the mutation. We could never figure out what was causing Lilly's disorder--mutation, etc... You can read more about her at www.carepages.com "LillyHaas"
My son, Brody, was recently diagnosed with complex V mito disorder. He has a point mutation on the ATPase 6 & 8 genes. I am trying to get in contact with others that have a similar diagnosis, especially complex V. I know complex V is very rare, that's why I'm reaching out. I would like to know others out there affected with mito and what your journey has entailed. You can visit my son's site at www.caringbridge.org/visit/brodytucker. His liver and muscles are affected. He also received a heart transplant at 3 months of age. He relies on TPN through his central line catheter. I am trying to resume his g-tube feeds slowly to see how he tolerates it. He is physically delayed as well. But he is a VERY happy boy and knows he's loved:)
|United Mitochondrial Disease Foundation (UMDF)||
The UMDF offers support to all sufferers of mitochondrial disorders regardless of diagnosis, suspected or confirmed. Our mission is to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.
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.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
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.