Why is the International Registry important?
Any contribution towards the advancement of research concerning the Phelan-McDermid Syndrome is vital for us. As this is a rare syndrome affecting very few people worldwide, one of the factors that hinder this advancement is the lack of clinical data in terms of the progress made by people with this syndrome. Therefore, having an international clinical data register in which to include patient information is one of the most valuable tools our organisation can offer the few scientists who are currently working on gaining a better understanding of the Phelan-McDermid Syndrome.
We believe researchers will one day discover the mechanisms involved, the effects of these on those affected by the syndrome and what are the essential factors that can allow patients to enjoy a better quality of life and perhaps one day this will lead to the discovery of a medication that will enable some of the effects to be reversed.
But for real progress to be made, we need data
The scientists and doctors involved in this task need the families of children affected by PMS to voluntarily provide all their data and medical and clinical reports to this registry.
The collaboration of families is the first step towards finding a solution. Each new case is a valuable resource for researchers and a chance to learn something new that could one day lead to a solution.
Therefore, if you are the mother or the father of a child affected by this syndrome, please read this carefully and enter the International Registry (RMI – initials in Spanish). All you have to do to register is enter your child’s information, save the access username and passwords and carefully answer all the questions from the various questionnaires on the International Registry. It is also very important that you attach files with your child's medical and clinical reports, particularly the Genetic Analysis (CGH-array). If you are not sure how to do this, please contact us at firstname.lastname@example.org indicating your problem and a contact phone number and we will do our best to help you.
Below is a short guide explaining how to access and use the International Registry.
Another very important factor is to update and enhance the information as it changes. We would greatly appreciate if you could update your information at least once or twice a year as your child progresses or you obtain new medical reports.
Most people affected by PMS are children. We need to know as much as possible about their progress. If every family provides information, before long we will have enough data to study and make significant progress in the near future.
And you will have full access to all this accumulated knowledge.
You have the power to speed up research in PMS. Bear that in mind.
Now you can take the first step: Click here.
Note: The information submitted voluntarily to this register will be treated in the strictest confidence, respecting the patients and their families. And the personal data will be handled and processed pursuant to legislation in force concerning personal data protection and rights.
Personal data will be treated in strict confidence. And only medical or clinical information is made available to the international scientific community working on the Phelan-McDermid Syndrome, to ensure the privacy of those affected is guaranteed and protected at all times pursuant to legislation in force. If you would like to learn more, please contact us at email@example.com
How do I access the registry?
VISUAL instructions for adding our child's MEDICAL information to the Phelan-McDermid Foundation International Registry
Remember there are people out there helping our children by carrying out research and studies. Adding our information to the registry and updating it at least once or twice a year will be extremely useful for these researchers.
As you all know, there are very few people in the world diagnosed with Phelan McDermid Syndrome, which is why it is so important for the people working on this syndrome to have more information about the progress in each case.
You can find a registry of case studies on the website www.22q13.org. It has also recently been translated into Spanish.
Access is easy: Simply follow the steps shown below: