A year of contemplation, preparation and patience for the Foundation
Along with our sister foundations in the UK and Spain we have expanded our outreach to families helping them connect with physicians, resources and other families living with h-abc. This is an important part of our work to connect families from across the globe desperately trying to help their children as this is still an unrecognized disease which still even the physicians don’t know how to treat.
We, along with the UK foundation continue to advance efforts to find a cure using ASOs, a treatment that requires ongoing injections to stave off the side effects of the disease. In addition, AAV gene therapy has just entered its third year of research which, if successful, will provide a permanent cure stopping the progression with a one time treatment. Our efforts collectively entail funding the research and the clinical patient natural history studies critical for future trials.
2022 was an important year for us to introduce h-abc to the FDA. During a two hour listening session we presented clinical details on the disease as well as our experience as parents and caregivers and the impact it has on our children. The FDA talks all the time to researchers and pharmaceutical companies, but they want to see and hear from the patients and caregivers too. Our session was a big success and a summary is available to view on the FDA website https://lnkd.in/g_HfEGbi.
This helps anyone across the globe interested in understanding more about h-abc have access to us
This year we also launched our patient registry. The FDA must have patient advocacy representation independent of all the research in order to advance a clinical trial. They want to be able to hear from our patients and be able to connect. We partnered with RAREX and have established a registry that continues to expand. https://lnkd.in/g8nzQGZs
Our 2022 annual fundraiser event entailed a very successful concert in Florida in March with over 1200 attendees. We are planning ahead for our 2023 event in Maryland and we expect it to be one of our best ever!
Looking ahead we are planning a family conference in the Chicago area in late June 2023. The United Leukodystrophy Foundation is hosting a family conference to include researchers so not only our h-abc families can come together but also meet others living with a Leukodystrophy. We will host a half day session on h-abc bringing in key speakers. Family time in these settings is so beneficial for parents and caregivers.
Happy New Year!