Liam Christopher Becker was born May 22, 2010. He was 8 weeks premature so over the next year he was delayed in hitting his milestones. However, this was not unusual for an 8-week premature baby as it is expected he would have some delayed milestone achievements. However, at 18 months, when he wasn’t hitting his developmental milestones, his pediatrician recommended speech, occupational and physical therapy. We went to his first physical therapy appointment where the therapist suggested seeing a neurologist.
The neurologist expressed the possibility that Liam may have cerebral palsy but she wanted to do an MRI to rule out any other concerns. Her main concern was PMD. She noted that I, Liam’s mother, came from 3 generations of PMD. I had been tested to see if, in fact, I was a carrier of PMD when I met my husband. My test results were inconclusive, as I didn’t have the typical genetic mutation or deletion for PMD.I had a mutation of the PLP1 gene with unknown significance. I am adopted so I was unable to find the genetic mutation that ran in my bloodline against which to test my results.
Following Liam’s MRI, we had an appointment to review the findings. My husband and I sat in the room with 2 neurologists and a geneticist. They began to explain that the findings of the MRI showed Liam did, in fact, have PMD. They said so much more to us at that appointment but I honestly heard nothing more after that. I was devastated for my son. I knew what this disease could do as I had 3 biological uncles who passed away with PMD and 1 biological brother who has PMD.
Over the next few weeks I researched everything I could to learn more about PMD. I had appointment after appointment with different specialists so they could all get a baseline for where Liam is developmentally and go over health concerns. I also got Liam set up with our Regional Center. At the same time, I started therapy to keep myself in a healthy place as I absorbed all this new information. However, most importantly, I reached out to our local PMD community to get in touch with others who had walked the path we were beginning. Several parents shared with me their experiences, gave me strength, and helped me to hope again for Liam.
Liam is our only son and we have chosen not to expand our family. We are blessed that we have such a happy, loving, playful little boy. He is our family’s greatest gift regardless of PMD. He is amazing in every way!
May 22, 2010
Christopher & Alicia Becker, no siblings
South San Francisco, CA
At 24 months – Lucille Packard Children’s Hospital in Palo Alto, CA
Has a maternal uncle, Peter, and 3 maternal great-uncles with PMD