Hibbets Family
We are the Hibbets family: David, Aleecia, and our four children. We have two PMD sons, Joshua (8/26/02) and Evan (12/10/10). I (Aleecia) have a family history of (undiagnosed) PMD; it is a blessing to us to have a diagnosis and finally know about PMD and solve a “family mystery.”
We are from north Louisiana, but live in Tulsa, Oklahoma, where David is a new osteopathic physician completing his family medicine residency program.
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 page and welcomes you to message her. To learn more about her family and reach out to an amazing PMD family click here.
We are the Hibbets family: David, Aleecia, and our four children. We have two PMD sons, Joshua (8/26/02) and Evan (12/10/10). I (Aleecia) have a family history of (undiagnosed) PMD; it is a blessing to us to have a diagnosis and finally know about PMD and solve a “family mystery.”
We are from north Louisiana, but live in Tulsa, Oklahoma, where David is a new osteopathic physician completing his family medicine residency program.
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 page and welcomes you to message her. To learn more about her family and reach out to an amazing PMD family click here.
