As you know I am pregnant with number three. I had hoped for a "normal" pregnancy but thus far it has been anything but. Because of Abby's diagnosis (along with my obstetrical history) the OB insisted that I see a high risk specialist (perinatologist). I saw one with the girls and that is who helped us begin our journey towards a diagnosis of rhombencephalosynapsis.
I agreed, knowing it was an inevitability. Of course one of the first points of discussion was Abby's RS. Because almost no doctor, let alone a peri, has heard of RS I find myself educating yet another medical practitioner. I give my speech outlining the structure and symptoms of RS. The doctor is amazed and asks ME about the heritability. I outline that no siblings have been identified with RS that this being an inherited trait seems unlikely. She believes me, says in passing that she'll look it up (I nod knowing how little info she'll find) and we move on.
I just found it striking how much of our life involves this bizarre and rare diagnosis. Most of the time the word rhombencephalosynapsis doesn't cross my mind. It isn't something that is a major part of our daily life. At least it doesn't seem that way. But isn't it? The fact that I spend so much of my day making special considerations for Abby. Every time that Grace hops our of the van but Abby has to be helped. Every meal that Grace feeds herself but Abby, even with her weighted vest and utensils, still struggles with. Every doctors appointment that it comes up in and I am forced to give my "RS lecture" yet again.
It is a part of us. It is a part of everything we do. It makes us different but it makes us special. It makes us realize that we can't take one darn thing for granted. It reminds us how lucky we are to have her. It shows us that life can always be worse.
So we pray that our new baby will not have RS. We pray that the docs are right and it is not likely inherited. Who knows that the outcome would be so good next time. But the reality is we also know that if it is in our future we're ready.