Last July Amber asked me to help launch the Ciitizen partnership with SLC6A1 to create a new digital Natural History Study.  Ciitizen was founded with a mission to let patients control their own health records to aid in their own healthcare and to advance research.  They developed the Rare Patient Network, which is a collaboration with various patient advocacy organizations to collect and organize anonymized data for research.  The data they collect becomes a Natural History Study, which shows the history and progression of a disease.  Natural History Studies up until this point have been conducted manually by researchers and pharma companies and take years to find participants and collect their data.

Over the past few months I’ve been working more closely with Ciitizen to learn about the natural history studies they host for us and their other rare epilepsy disease partners.  The data they collect from these groups is rich and complete.  Aggregate data from all the groups has been surprising and informative, showing interesting similarities and differences between each disease in the network.

SLC6A1 has yet to be included in the aggregate data.  This is because we have not reached a minimum of 50 verified participants.  

While we have over 70 families that have signed up, we only have 42 fully-verified U.S. patients.  This is great, except that to qualify for this phase of the Natural History Study we need 50 verified U.S. patients.  (Obviously the more patients we can include, the better quality data set we will have.)  We are limited to U.S. patients right now because Ciitizen is only able to reach out to U.S. providers for English-language medical records.  

According to Ciitizen, it’s not uncommon to see registrations drop off.  I’m told there are a handful of reasons why this happens:  people don’t see the importance or they can’t find the time.  Many are stalled during the sign-up process because they don’t have the documentation they need.

Let me explain why this is worth the 10-15 minutes of your time to sign up.

Data is KEY.  

Just like fundraising dollars are important to launch research for SLC6A1, our data is EQUALLY important.  I’ve been fortunate to listen in on some of the SLC6A1 scientific presentations this past year.   The most recent was an update on the Ravicti trial.  You know what the scientists all need to get their research and trials started?  Our data.  They need to know the history and progression of our kids’ disease.  There will be clinical trials for SLC6A1 coming in the near future and this data is a necessary part of the application process with the FDA.  Right now, scientists and researchers are trying to determine what the next phase of the Ravicti trial will look like.  They NEED our data to do this.  For all of the other research and treatment avenues that Amber is driving, we need this data.  We have two biotechnology companies waiting for it right now.

We Are Rare But We Are There!

We have over 300 SLC6A1 families in the U.S. and more join us every week.  Our participation in the Natural History Study sends a message to biotechnology companies that we are READY and RESPONSIVE when they start looking for diseases to target and clinical trial participants.  I don’t know about you but I’m dying for the opportunity to get a medication like Ravicti to help my daughter.  She is running out of time, like all our kids.  We can’t afford to not be READY for drug development and clinical trials.

Keep and Share Your Records.

Ciitizen stores all your child’s records for you.  As a parent of an SLC6A1 child, you will see many medical providers over the years.  Did you know that some hospitals and providers are only required to save medical records for 7 years?  If your child is over the age of 7, some of their records may already be lost.   Ciitizen will reach out to any U.S. provider you list, FREE of charge, and retrieve all your child’s records, images, notes, test results and more.  These records are stored in your account and can be easily shared with new providers your child sees.  You can even upload records you have in your own files.  It’s your data.  It’s secure.  You can delete your account at any time.

It’s only a few minutes of your time, but the long-term benefits are worth it.  Our kids get closer to having a life-saving drug while you save the time, effort and expense of collecting and managing their medical records.

Sign-up is Getting Easier.

If you have your driver’s license and your child’s birth certificate you can sign up in 10 minutes.  Ciitizen will be launching an even easier sign-up process on their website soon.

They offer both email and live support.  You can even schedule an appointment with a live concierge to walk you through the onboarding process.

There really is no reason to not sign up.

I’ll be reaching out in the next several weeks to rally more sign-ups.  

We Are Rare But We Are There!

Sandra McEntee

SLC6A1 Mom to Kat


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