Does anyone know anything about primary ciliary dyskinesia?
My 11 month old son was just diagnosed with a rare genetic disorder- primary ciliary dyskinesia and I have been trying to do research but I am getting unclear and conflicting information from his doctor and online. Just need to know more about what I'm dealing with and don't know where to look.
I also recommend you follow up with your pediatrician and the PCD website group. When a child is diagnosed with a genetic disease, it is best as a parent to form a medical team that will be his support system while growing up. Usually it would be the medical home or pediatrician, the geneticist, or other specialists recommended by your pediatrician. Sometimes it is also recommended to include a counselor to deal with the adjustments made necessary by the diagnosis when the time is appropriate.
Best wishes and be educated and speak with other parents.
Wayne Yankus, MD, FAAP
expert panelist: pediatrics
I would also recommend that you continue following up with your son's pediatrician. Discuss with the doctor the conflicting information you've found, and ask as many questions as necessary until you do know what you are dealing with and what you can do to help your son.