The diagnosis of a genetic disease such as Birt-Hogg-Dubé Syndrome can be a difficult time. From the initial doctors visit, to confirmed diagnosis and beyond. Depending on where you live the level of health care from various members of the medical community may differ considerably.
The ‘Families’ section of this website contains helpful information on diagnosis and treatment, the gene test and genetic counselling. However, because of the differences in healthcare it might be useful to post your experiences of this time. Others may be able to offer you advice, or your story may prove useful for the newly diagnosed individuals.
2 thoughts on “Diagnosis and Counselling”
gostaria de saber se a sindrome influencia na fertilidade da mulher, já que está ligada a foliculina
Hi Ana Paula and thank you for writing. I’m sorry my response is in English, but to reply to your query: there is no evidence that BHD influences fertility in women. It is a different gene which is not related to ovarian follicles, follicle-stimulating hormone or any known hormones. Thank you and I hope this helps answer your question. Maybe there will be someone who speaks Portuguese who can answer as well!