If your child has been diagnosed
If your child or family member has been diagnosed with an FBXO28-related disorder, we would like to hear from you.
Every family contributes valuable knowledge. By connecting families, clinicians and researchers, we can build a clearer picture of FBXO28-related disorders, understand the natural history of the condition and accelerate meaningful research.
Whether you are looking for information, would like to connect with other families, or are interested in future research opportunities, please contact us.
Connect with other FBXO28 families
You are not alone. Join our private Facebook group for families and caregivers affected by FBXO28-related disorders. Connect with other families, share experiences and become part of the growing international FBXO28 community.
Join the FBXO28 Families Facebook Group →
Private community for families and caregivers. Participation in the Facebook group is separate from participation in the FBXO28 patient registry or research studies.
What happens after you get in touch
- You tell us you exist. A short form: your name, country, and how to reach you. Nothing medical. This alone matters — with fewer than twenty people reported worldwide, every family we know of changes what is possible.
- We stay in contact. Research updates, in plain language, at a pace that does not fill your inbox.
- Later, if you choose: the questionnaires. Two structured instruments — one for parents and caregivers, one for the treating clinician — designed to complement each other rather than repeat. These will run on a secure research platform, not on this website, and only after the ethics and data-protection work is complete.
- Longitudinal follow-up. The same questions at six months, twelve months, and then annually, so the natural history of the condition can be described properly.
We will not ask you for medical details through a web form, and we will not ask you to upload your child’s records anywhere until there is a proper place for them.
Questionnaires developed by Aleksandra Sułkowska-Bojarczyk, MD, with expert review by Evelina Carapancea and Maria Roberta Cilio.
Contact the Foundation
Write to us at contact@fbxo28.org. Your name, your country and how to reach you is enough to start — nothing medical, and nothing you are not ready to share. We will tell you what happens next before anything else is asked of you.