u/redshering

I won't name names, but I was innocently looking for others with my ultra rare mutation on Facebook, including autoinflammatory issues and my gene related sites. I was singled out and told not to "share genetic information" and they cited GDPR laws (sent to everyone in the group) - which is the EU equivelant of HIPPA. I didn't even share personal documents or photos.

How many of you are going on Facebook to share genetic and symptom information?

I corrected them on what the law actually entails (of course two people who have an illness who agree to share their personal info with eachother is not included in the law). They are well aware of those laws.

Just a warning to all of you. After I corrected them, they kicked me off the sites related to my rare mutation. These people run non-profits that supposedly are all about "connecting others" and doing "advocacy work". I beg to differ.

I won't name names, but I was innocently looking for others with my rare mutation on Facebook, including autoinflammatory issues and my gene related sites. I was singled out and told not to "share genetic information" and they cited GDPR laws (sent to everyone in the group) - which is the EU equivelant of HIPPA. I didn't even share personal documents or photos.

How many of you are going on Facebook to share genetic and symptom information?

I corrected them on what the law actually entails (of course two people who have an illness who agree to share their personal info with eachother is not included in the law). They are well aware of those laws.

Just a warning to all of you. After I corrected them, they kicked me off the sites related to my rare mutation. These people run non-profits that supposedly are all about "connecting others" and doing "advocacy work". I beg to differ.

Edit: There is actually a way you can have a voice. Go on Great Nonprofits (or other review sites), and share your voice in a review.

I am looking for others with an ultra rare NLRP12 Exon 5 Deletion. It would be listed as a VUS, but it appears to be pathogenic. It doesn't mean your illness aligns with FCAS2 (technically that is Exon 3), I only need people with the mutation. Invitea says there are at least 50 others with this mutation!

Like the title says, I am looking for others with an ultra rare NLRP12 Exon 5 Deletion. It would be listed as a VUS, but it appears to be pathogenic. It doesn't mean your illness aligns with FCAS2 (technically that is Exon 3), I only need people with the mutation. Invitea says there are at least 50 others with this mutation!

Like the title says, I am looking for others with an ultra rare NLRP12 Exon 5 Deletion.

Autoinflammatory (not autoimmune). The disease, for now, is called FCAS2 or NLRP12-AID, though poorly defined. Ultra rare, one citation in Clinvar. I am in a research study and they would need others outside of my family to change the mutation from VUS to Pathogenic. That's probably years out, but just looking to see if there are others out there.

Like the title says, I am looking for others with NLRP12 Exon 5 Deletion.

I have struggled with symptoms for at least 11 years, but most likely my entire life. I am in a research study. They would need other families that have this specific type of mutation to change it from VUS to Pathogenic. That is probably years off from now, but I am reaching out to see if there are others.

Edit: Titile should say Exon, not Exom