My brother was diagnosed with ALD when he was 5 years old and passed away when he was 7 (2007).
Last year my mom and I got tested and we're both carriers. I will go and see a genetic counsellor when I plan to have children but would like some advice as to what others have discovered about having children as a carrier? What are the options?
Also, my mom has been experiencing back pain and knee pain as well as stiffness. She is convinced that those are symptoms of being a carrier. We unfortunately do not have very many doctors who are expertise in this field ( we're on South Africa). I feel that there should be medication or treatments for this type of thing but we don't know where to go. She's gone for X rays and so forth and they haven't found anything wrong with her knee and her back that would be giving these symptoms. She also gets pins and needles in her back.
Any advice or recommendations would be greatly appreciated.