PMD Foundation Announces International Natural History Study on Individuals with Pelizaeus-Merzbacher Disease

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.

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The Biggest Moment in The PMD Foundation’s History

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…

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Leukodystrophy Conference Impressions

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.

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BlogJared Gold
Don't Take Your Lamborghini to Just Anyone!

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.

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Volunteers Needed!

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.

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The Hibbets Family Story

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.  

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The Herndon Family Story

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).

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The Oller Family Story

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.

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The Jones Family Story

The Jones boys, Garrett, 16 and Gavin, 12, were diagnosed with Classic duplication PMD in 2001. Garrett was 3 and Gavin was not yet born. We (their parents, Gina and Gordon) made the decision to have Gavin partly because of the rarity of PMD. We felt that they would at least have each other as brothers and partners.

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