So we were on the way to the Dr. Office today and received a not so great phone call. On a side note the reason we were going to the Dr. turned out good. Macy's ears looked good and her throat. Her 'off balance' like behavior today of constantly falling must just be from her cold. we will wait a day or so and hopefully she'll be better.
But anywho, onto the bad news. Her gene sequencing results came back and they could only find one mutation. The other could not be found. Since FA is an autosomal recessive disorder it means she inherited one mutation from me and one from Adam. In order for us to do IVF with PGD we need to know both mutations so we know which embryos have FA and which are just carriers, etc. So there is a good chance we might not find her other mutation at all, and if that happens then we cannot do IVF. Which in a nutshell means Adam and I can't have any more kids (biologically anyways) and no sibling matched bone marrow donor for Macy.
So there goes our hopes of starting this spring, if we even can at all anymore.
There are people that have been searching for their mutation for years and have not found it. I don't know what we are going to do; but I still feel like we HAVE to make this work for her somehow. We have to find a way, we just have to.