We are excited to let you know the study, called Study of Therapeutic Outcomes and Practices in Freeman-Sheldon syndrome (STOP-FSS), now led by Dr Robert L Chamberlain, MD, is now active and accepting patients! Though we had a lot of difficult problems in past years, we have made a lot of changes to how we do things in FSRG, learned from other research we have done (https://www.ncbi.nlm.nih.gov/pubmed/?term=poling+mi%5BAuth%5D), and improved this study a lot.

The study involves surveys, review of medical records, and a video-based interview (for example, Skype, FaceTime, etc.) to learn more about problems, experiences, helpful treatments, and quality of life for patients with Freeman-Burian syndrome, Sheldon-Hall syndrome, distal arthrogryposis type 1, and distal arthrogryposis type 3, also called Gorden syndrome. (Some other names for Freeman-Burian syndrome include: Freeman-Sheldon syndrome, distal arthrogryposis type 2A, craniocarpotarsal dysplasia (or dystrophy), or whistling face syndrome.)

We want to know what is helpful, so that we can report it in the medical literature to give doctors more information about how to help patients. These conditions are very challenging to treat, partly because of the big differences in individual patients and partly from lack of information on treatment outcomes. The goal is to start with having at least 20 persons participate over the summer and fall.

Anyone interested should send me a personal message, fill out the contact form at https://fsrgroup.org, or email us for more information.

This is very important, and we hope everyone will consider it.

Sincerely,

Mikaela I. Poling, BA