New Facebook closed group
Just wanted to post a note to say that Bobbi, one of the members of the Inspire CTX community took the initiative to create a close Facebook group for us to communicate amongst ourselves in a more private setting. This has supplanted the yahoo group for communication because it allows us to be able to better vet the members, see who’s active in the community and it’s using a platform that most everyone is already using.
I have placed a link on the Links page of the site but you can also get to it here.
Thanks for reading and please join us on Facebook!
What’s new!
It has been quite a while since I’ve updated the site but that does not mean that there has been no progress on the various things that have been in the works for some time. First an update on the Newborn Screening research. I am very pleased to say that through the hard work of Dr. Andrea DeBarber as well as contributions and financial support by many others, that this Summer, CTX will be submitted to the National Newborn Screening program. This is a huge milestone and has been a long time coming. It’s far from a slam dunk however as there are many criteria that must be met for it to be considered but we will continue to work towards this goal until we are able to achieve it. One of those criteria is disease prevalence, of which there has yet to be any definitive numbers researched or published that have definitively determined the prevalence of CTX.
To that end, as I mentioned in my post in April of last year, Retrophin has been funding a prevalence study, some of which includes working with Pediatric Ophthalmologists to go back into their archives to submit children who’ve been seen with unexplained cataracts for testing for CTX. This will greatly contribute to helping to determine prevalence of the disease. To read more about this study, including how to participate, click here.