The Foundation is very pleased to be supporting this very important act.
Peace of Woodstock Fundraiser
Tuesday, February 12, 2024 | The Savannah Center, The Villages, Florida. More details to follow!
A Year in Review
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!
FDA Patient Listening Session
On May 9, 2022 several parents met with the FDA to share our experiences living and caring for our children living with H-ABC. Click FDA to link to a summary of this meeting.
Seth's Story
When I received the diagnosis that my son Seth has H-abc Leukodystrophy at the age of four. I was devastated, my whole world came crashing down, a million thoughts raced through my mind on a daily basis. For the next couple of years all I could do was think how could I possibly prepare myself to ever live without my son, how could I prepare myself to watch him deteriorate and eventually lose all function. It is not something that a parent can ever really prepare for. I was so angry at the world and at God for a long time. I have learned to make the best of everyday and make as many memories as possible. Seth is a very brilliant, funny, and handsome little man, full of personality and loves life, he is determined and he is not going to let leukodystrophy stop him. Not long after Seth’s diagnosis, I came across the H-abc parent group and the H-abc foundation and both have given us so much hope. We are not alone, there is so many families that we can relate to. There is so many people that are working tirelessly to raise funds and to find a cure. Thank you to Michele, all of the doners and to everyone that is working towards a cure, It is all of you that is getting us closer to a cure and giving my Seth and all of our beautiful children a fighting chance at life.
Welcome Dr. Gerald Raymond to our Scientific Advisory Board
Very pleased to announce Dr Gerald Raymond will join our scientific advisory board as we continue to navigate gene therapy. Welcome Dr Raymond!
Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital.
Welcome Dr. Florian Eichler to our Advisory Board
The Foundation is very pleased to announce the addition of Florian S. Eichler, MD., to our advisory board. Dr. Eichler is Director of the Leukodystrophy clinic at the Massachusetts General Hospital; Associate Professor of Neurology at Harvard Medical School; Executive Committee member of the Global Leukodystrophy Initiative.
SHOE DRIVE
Now through June 15, we are collecting gently worn shoes to send to impoverished countries throughout the world. Collect your gently worn shoes and drop off at 15901 Sycamore Lane Rockville MD any time. Contact free! Leave on porch!
Queen Letizia of Spain meets with Carolina
On February 11, Laura Rivera Casares and her family had the chance to meet with Queen Letizia of Spain at the Zarzuela Palace to talk about their daughter Carolina’s experience with H-ABC.
“It was a very special moment for our daughter Carolina, for over an hour we shared our experience with her, it was a good opportunity to give visibility to children affected by H-ABC disease. The Queen has been particularly sensitive and is committed to supporting any initiative that we organize.” - Laura
You can read all about the visit (in Spanish) on the Royal Palace website.
Queen Letizia of Spain meets with Carolina and her mother Laura to talk about H-ABC.
Fitkin Family Support for our H-ABC Family
Please watch the following video on how the Fitkin family’s contributions will assist us in the fight against H-ABC.