The DeMartini Family Story

Submitted by Ashley’s mother, Megan:

Ashley was born after a normal pregnancy in July 2014. We started noticing nystagmus around 4 months and, after seeing an ophthalmologist, Ashley had a brain MRI at 6 months. The scan found spots, but we weren’t given a diagnosis.

After many months of ‘waiting and seeing’, missed milestones and much deliberation, we decided to do a full exome genetic test. 

Ashley was diagnosed with Pelizaeus Merzbacher Disease (with a PLP1 mutation) at 28 months. After much research online, we were scared, but also hopeful as our doctors at Stanford had not heard of any other females having PMD.

Once we had her diagnosis, Ashley was able to participate in many early intervention therapies. She started walking with Ankle Foot Orthosis (AFOs) at around two years old. She participates in physical, speech and occupational therapy. She also suffers from asthma so she often fatigues quickly.

While she is still developmentally delayed and deals with ataxia, hypotonia, and tremors, among other things, Ashley was able to attend an inclusive preschool and now attends elementary school. Our school district has been wonderful and provides adapted physical education and a full time aide. 

While Ashley loves going to school, she has some trouble making friends due to maturity level, but will chat with anyone who is willing to listen. 

We are a sporty family, so we have challenged Ashley to try many things like swimming, softball and soccer. She loves to be part of a team and wear the jerseys. 

In the early days of her life, we yearned for her to be ‘normal’ and do things the other kids were doing. As time has gone on, we have realized she is meant to be purely herself. She impacts everyone she meets in a positive way. 

With all of the therapies and work at home, Ashley has shown a lot of progress and all of our doctors recommend continuing to challenge her. She is truly a wonderful, happy, determined, and loving little girl.

After finding the PMD Foundation online, and reading stories of other families, we were comforted to know we were not alone. Our constant worry is for her future, but we try to focus on the present and enjoy every moment with her.