Is genetic counseling called for in this circumstance

I’m in the US but thing you could look into is the NBS program for the state and year you were born. Not all states include Pompe on NBS but could be worth a quick search to see if you were screened for this disorder.

Here is a presentation on screening from 2013: https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/meetings/Heritable%20Disorders%202004-2015/2013/January%2031,%202013/pompediseasescreening.pdf

There are many risk factors for OSA which are more common than Pompe. Reporting the family history to your pulmonologist or family doctor may be a more appropriate first step for further work-up. Often clinicians may start with evaluating for clinical suspicion of the disorder or abnormal GAA enzyme studies before proceeding to genetic testing to establish a diagnosis.

If you’re interested in learning about your risks to have an affected child, preconception genetic counseling would be an appropriate referral.

/r/ClinicalGenetics Thread