Want to get help after being diagnosed with a rare disease
Unfortunately, my friend's child had a Nr2f1 gene mutation, which triggered Bbsoas. Do you have any medical intervention and treatment suggestions? All experienced friends, patients with the same disease, experts in this field and doctors are very welcome to provide information and help. I am looking forward to it and thank you.
Hi,
!
I think it's a beautiful testament to your friendship that you are wanting to find resources for your friend's child. I do hope any community members with experience with Nr2f1 and/or BBSOAS will see your post and chime in. Also, there is a foundation for Nr2f1 that has a lot of information about Bbsoas (including information about treatment options) -- https://www.nr2f1.org/en/living-with-bbsoas/ and --https://www.nr2f1.org/en.
There are also some Facebook communities you or your friend may want to check out, including one for those impacted by Nr2f1(this one is linked to Nr2f1.org) -- https://www.facebook.com/NR2F1 and a group for parents of children living with BBSOAS -- https://www.facebook.com/groups/NR2F1 (also run by the Nr1f1 foundation). The last link is a private group, so I can't assure the content of the group. That's totally fine, as I don't belong in that group, but I want to make sure I explain that I haven't personally "vetted" that group.
I wish I had more input for you, but the good news is that there appear to be a good amount of information about BBSOAS! So, I hope your research and the links I provided give you some helpful insights.
Not that you need me to say this, but you sound like a good friend. I wish nothing but the best as your friend and their child navigate this new diagnosis.
Best, Erin, Team Member.
