SALADO, TX | August 21, 2019 -- The PMD Foundation, in partnership with Children’s Hospital of Philadelphia (CHOP) and an international consortium of leukodystrophy clinicians and researchers, announced today that they have launched an initiative to collect robust natural history data on individuals with Pelizaeus-Merzbacher Disease (PMD) using a CHOP-based patient registry as a platform.
Read More
On June 15, 2019, Logan Parker, Texas, and family hosted a golf outing at the beautiful golf course, Mill Creek Country Club. The weather was beautiful and 44 golfers came out to support Logan and the PMD Foundation raise money to further the mission of the foundation.
Read More
The PMD Foundation is working hard to finalize and fund a Retrospective Natural History Study for PMD. This will be the biggest moment in The PMD Foundation’s History. Our commitment to getting this study done for all those with PMD past, present, and future is the most important thing we can do as a patient advocacy group in order to help researchers that are working on treatments and therapies that will help our boys and families in the future…
Read More
Dr. Robert Skoff of Wayne State University has been a long-time researcher of Pelizaeus Merzbacher Disease (PMD) in mice. Fortunately for Dr. Skoff’s research, rodents have the same mutations as humans, exhibiting similar neurological symptoms so they can be used to study how myelin is destroyed…
Read More
On June 16th I attended the conference Leukodystrophy: Current, Novel, and Future Therapies, hosted by McGill University Children’s Hospital and Dr. Geneviève Bernard in Montréal, Quebec. It was a busy day, with updates and information about a number of leukodystrophies, including PMD.
Read More
When trying to explain our experience to friends and family upon our return I used the following analogy: If you owned a Lamborghini and it needed service you could take it to your local auto repair garage. It has tires and a motor like the other cars they work on…. but they do not have the specific training or tools and experience to properly service your unique Lamborghini.
Read More
The PMD Foundation is looking for volunteers to assist with grant research. No experience necessary! Grants are a great way to connect the exciting work of the foundation with additional resources to do even more for families affected by PMD. We need help searching for appropriate grants and saving them into an organized spreadsheet with deadlines and grant details.
Read More
The Harter Cup is played in support of the PMD Foundation and named in the memory of Jack, Dick (Jack’s grandfather), and John (Jack’s great uncle) Harter.
Read More
Leonardo Xavier Labrada was born on February 8, 2013. He is the youngest of three siblings. He has an older sister (Samantha) and an older brother (Carlitos). From the moment we laid eyes on him, we were in love.
Read More
We are the Hibbets family: I am Aleecia Hibbets and my wonderful husband is David. We have two PMD sons, Joshua (8/26/02) and Evan (12/10/10). I have a family history of (undiagnosed) PMD, and after Joshua was diagnosed, my sister and first cousin were able to be tested and found out that they also carry the same genetic mutation.
Read More
I’m nearing my first anniversary as being the PMD Foundation’s Executive Director and I can tell you I love my job, it is my dream job. I won’t say that the job doesn’t have its struggles but we have an amazing board of directors that help support me in my role.
Read More
Kenny Jude Herndon was born August 4th 2008 with classic PMD (duplication in plp1.) He lives in Broken Arrow Oklahoma with parents Jennifer and James Herndon and siblings William, Jamie and Jocelyn. When Kenny was 6 months old, they noticed he wasn’t reaching milestones he should at his age, and his eyes would move from side to side (nystagnus).
Read MoreIn this issue: Devin Joseph, 3rd Annual Gabe VandenBerg Golf Outing, Research: Why We Do What We Do, Letter from the Chair, Fundraising, Events, Fun Halloween Costumes, Contact Information
Read More
My name is Francisco Oller, and I was born in San Juan, Puerto Rico. Although I came into this world without any complications, I developed nystagmus within two weeks. After a CT scan and MRI, I was immediately referred by my father’s uncle, Dr. Jose Luis Garcia Oller, to Dr. Neil Miller, a neurophtalmologist at Wilmer Eye Institute at The Johns Hopkins Hospital. At three months, my diagnosis was thought to be either congenital motor nystagmus or spasmus nutans. Later on, I developed head nodding, which did not cease until I was nine months old.
Read More