For many, a BPAN diagnosis may come after many years of genetic testing, misdiagnosis and a long and complicated medical journey. With the advent of better diagnostic capabilities and whole exome sequence genetic testing, the number of BPAN patients identified worldwide has increased dramatically from an estimated 100 patients in 2017 to an estimated 500 patients worldwide 2018.
Our BPAN Warrior commUNITY wants nothing more than to see patients with BPAN identified accurately and expeditiously, with the hopes that this may alleviate the emotional, physical and often financial burden that many families experience. To this end, we hope that the medical community will join us as we as we advocate and work to increase BPAN awareness throughout the world.
Correct diagnosis is only the beginning. Let's work together to improve the quality of life for all patients living with this life-limiting condition.
The NBIA Center of Excellence at OHSU provides comprehensive clinical care for NBIA patients around the world via physician-to-physician consultation, email, or phone to clinic appointments for patients with our providers in Portland, OR.
To Schedule a consultation with the NBIA Center of Excellence at OHSU, please use the following this link: http://nbiacure.org/for-clinicians/case-consultation/