Sanfilippo Syndrome is a rare autosomal recessive metabolic disorder characterized by severe neurological symptoms.
|Progressive dementia||Progressive dementia|
|Aggressive behavior||Aggressive behavior|
Cecilia, You are too kind. Thank you for your kind words. I am sure there are many experts out there, they have just not found their way here yet. My best to you and Fiorella. In Love, Patty
Thanks God, I found Patty, Jesse s mother as soon as Fiorella my daughter was diagnosticated by MPS III A Sanfilippo s syndrome, same than him, and she is my guide and my hope resources. So, I suggest to name her OUR SANFILIPPO LEADER !!!!!! Also, if anyone has new info about this disorder....thanks a lot,CECILIA
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.
I would like to share experiences with other parents in the same situation....
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