Two Communities Combine: Welcome the Pelizaeus-Merzbacher-Like Disease (PMLD) Group to the PMD Foundation

Maite Robinson talks about the formation of the PMLD Group and how it’s merging with the PMD Foundation

Recently, it was announced that the PMLD group is joining the PMD Foundation. Perhaps, you are wondering how our partnership will affect the community.

By now, most of you are probably familiar with Pelizaeus-Merzbacher-Like Disease (PMLD). As the name implies, PMLD shares many of the same signs and symptoms that are seen in PMD patients, such as weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of speech and motor skills. However, even though the symptoms of the two diseases are quite similar, the underlying cause of PMLD is quite different from that of PMD. While PMD is caused by a duplication of the PLP1 gene, PMLD is the result of point mutations in GJC2the gene expressing Connexin 47. Both the duplication and the point mutations affect myelin formation in the Central Nervous Systems.

Last summer, at the suggestion of Dr. Hobson and her husband Don, we began exploring the possibility of starting a group focused on PMLD. One of the biggest challenges we faced was the ultra-rare nature of PMLD. It is estimated that the number of PMLD patients is approximately 10% the size of the PMD population. With such a small group, making large investments in databases, websites, and other infrastructure costs would likely consume any funds that might become available. Because we had been active within the PMD community for many years, we reached out to Dave Manley, Chairman of the PMD Foundation, for advice on how to get started. That conversation led to the realization that the two groups shared many goals and requirements and that, by combining forces, we could leverage our common needs for mutual benefit.  

We then had to create a way of reaching out to the PMLD community, but we are not social media savvy… We reached out to Patty Daviau and Amanda Thompson Klinge from the PMD Family Support Group, who were kind enough to share their experience and knowledge with us.  Amanda, who had never talked to us before, went right to work and created our PMLD Group without us even asking her.

On February 27th, we had our first online meeting for PMLD families and scientists. We were a small group but made progress and, most importantly, saw a glimmer of hope for the first time in many, many years.  We feel we’ve come full circle, from being members of the PMD foundation to receiving the benefit of the wisdom, expertise and generous help of so many others in the bigger PMD family while providing specialized support to our smaller and younger PMLD group.