Next Step

Without going into details, I can say that Noel has been on a health journey. Today, we visited a geneticist to rule out the scariest possibility. She was referred in March, and it took many phone calls over a few weeks for them to fit her in about six months later. (I kind of think they finally fit her in because they were tired of my daily calls.) We spent those six months thinking that every symptom was caused by this possible disorder. 

Today, she was finally seen. We were both nervous. We talked to the genetic counselor and the doctor. We gave a more extensive personal and family medical history than I have ever given at any time. Then, after the physical exam, we were told by the doctor who specifically sees patients with the disorder we needed ruled out, we were told that there were so many indicators that were not met that she could say with a certainty she did not have this particular issue. Now, we need to get a referral to another specialist. 

Hopefully, one day we will have some answers. I don't know how many more visits we will have with doctors and other providers, but I am willing to do whatever it takes.