The Hibbets Family Story
Joshua - Born 2002; Evan - Born 2010
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. So it is easy to surmise that my undiagnosed relatives with a PMD presentation (first cousin, uncle, great uncle, all of whom were older than me and have passed away) also had PMD. It was a blessing to us to have Joshua’s diagnosis and finally know about PMD and solve a “family mystery.”
We are from north Louisiana, but live right now in Hattiesburg Mississippi where David is pursuing a second career in medicine. He will graduate from the William Carey College of Osteopathic Medicine in May 2019. We also have two healthy children: a girl, Jayden (8/17/05) and a boy, Gabriel (5/12/08).
The boys are diagnosed with the connatal form of PMD. Their mutation is a deletion: they are missing 3 base pairs of the PLP1 gene. Joshua was diagnosed at 2 months old when we had been admitted to the Alabama Children’s Hospital for Failure to Thrive. He got his trach and g-tube at that time, too. The neurologist had never seen PMD before but based on Joshua’s presentation (nystagmus, hypotonia, failure to thrive, bilateral vocal fold paralysis) and our family history, she was able to go back to her medical texts and ordered the genetic testing to be done through Dr. Hobson. We are very thankful for this neurologist and for the Lord’s hand! Evan was able to be diagnosed at 3 weeks old since his mutation could be easily matched up with Joshua’s by Dr. Hobson.
All four children are a blessing to us and others, special gifts from Heaven. Please feel free to contact me; I love talking about my kids and trying to help others!
Aleecia has a Facebook site where you can “friend” her, learn more about her family and reach out to an amazing PMD family.
Please note: Gabriel Hibbets has passed away since this article was first published.