So back story. When Ali was in the hospital for the first time (back when she was in CHF at 6 weeks old) They mentioned to me that they were going to do a genetic test on Ali. Well 5 days later we left the hospital and never heard anything back. Till now.
Early this month we went to see a geneticists, with Ali being behind, and nonverbal, and having the problems with her QT's being long. Well Wednesday I got a call from the doctor and she asked me if I knew that Ali had a genetic test done back in 2011, I told her that I did but never heard anything back from it so I believed everything to be ok. Well that is not the case, it turns out that Ali has Turners Syndrome and that the hospital knew this but never sent papers to anyone, not me, not her cardiologist, not her pediatrician. So for the last 3 years my daughter has not been getting the right care.
Thursday morning her cardiologist called and told me how they found out this news, on top of being in shock himself. It turns out that both hospitals use the same system and when he sent his paper work over to the geneticist the other hospitals paper work was sent. When he heard from the genetics clinic he went through his paper work and when he didnt see anything there he searched the other one and thats where it was.
So now that we have a reason for all of Ali's problems we can treat them correctly. We will be seeing a endocrinologist and a orthopedic. We go back to the Genetic clinic in June and will be going over everything then.
Feeling on all of this, I am happy to have a reasoning for all of this, I am sad that my daughter will never be able to have children herself, and I am angry that we were never told anything about this. They should have told us, but instead we get a shock like we did when she was in CHF.