It might be hard to believe sometimes that research into Angelman Syndrome is moving really quickly, perhaps that is because we can read about it, but we feel like we are a little removed from the process.   You might wonder “how could I make this happen faster?”. Well, you can.

Here is an excerpt from a TED talkby leading parent advocate Sharon Terry; “researchers don't share. People told us you can't herd cats. Well, yes you can if you move their food. DNA and clinical data is the food. So we would collect blood and medical histories, and require that all scientists using these resources would share results with each other and with the people who donated.”

A collection of accessible data for a researcher is like a jump start on a project, it saves time and can prove or disprove theories early in the process making best use of time. It means that pharmaceutical companies planning clinical trials can check severity of symptoms across different age groups and genotypes (Deletion, mutation etc).
It means that parents and caregivers can understand more about their child’s experiences including things like; milestones, drugs that work and don’t work, diets, seizure types, from the experiences of parents around the world.  For patient organisations, we can understand areas that require more awareness for improving things like early diagnosis.

You can make the first step today by jumping onto www.angelmanregistry.info to do the initial signup.  Listing a clinician isn’t compulsory. Once you have filled in all the details you will receive a confirmation email from the curator to confirm your registration (this should happen quite quickly, if for some reason you don’t see it in a few minutes, check your spam).

Tips for completing your registry entry

1.    Collect all the test results that you can find.

2.    Look through Facebook (if your child is young enough) or through your photos to see key developmental milestones and mark them down in a notepad.

3.    Dedicate an hour of uninterrupted time to have a first run through.

4.    As you move through the modules make notes of things you don’t understand, you can address these later or ask assistance from the registry curator.

5.    The seizure module can be difficult; seizure types have recently been reclassified. You can read more on each type from the links and complete the module now, or leave this one until later.

6.    Once you have completed the registry, diarise a time to collect information on the questions that you have outstanding, and/or email the registry curator to find out where she can offer assistance.

7.    Be sure to return to complete your entry.

8.    Pat yourself on the back, you have contributed to future research in a meaningful way!


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