I am going to do my best to give you all the new information we have; hopefully without being too confusing. If you remember from my last post we had another genetic test done on Rebekah because the Marfan Ophthalmologist we saw thought Rebekah had a different disorder. Well, the results are in....
Rebekah does NOT have Marfan Syndrome. She has a disorder called Ectopia Lentis et Pupillae which is very rare. This disorder ONLY affects her eyes. This could potentially be a huge relief for us because it means that the dilation in her aorta could stabilize and never get worse, or it could normalize and she may never have any issues. However, because Casey has dilation in his aorta as well; it also means that Rebekah may just have 2 separate issues going on. Basically, we will still proceed as before and she will have another echo cardiogram next June and we will just keep watch on it year after year.
Again, because Casey has the dilation, Genetics is recommending Aaron have an echo cardiogram now instead of waiting, so they have a baseline to go off of for him.
There was a part of us that was a little angry with having been told our daughter has Marfan Syndrome, only to find out a few months later that she does not. We went through a lot wondering what a future of Marfan would look like for our little girl and our family. Then we really thought about it all and now can see how it has all happened for a reason and brought us right where we need to be.
Every person has a pair of each gene in his/her DNA. In order for for a mutation to occur in Rebekah for Ectopia Lentis et Pupillae, it means that both Casey and I have one defective gene in our pair. Then, even with that, she had a 25% chance of having the mutation to cause the condition. WOW... crazy odds huh? That Casey and I both have a defective gene for this rare disorder and then that she only had 1 in 4 chances of getting it!
IF...
Casey hadn't married me and my defective gene; Rebekah hadn't gone against the odds and contracted the mutation; Rebekah's eye hadn't started wandering; Rebekah hadn't show dilation in her heart and received the Marfan diagnosis...
THEN...
We may have not second guessed the surgery; we may not have gone looking for another opinion with the Marfan Ophthalmologist, who ultimately gave us the correct diagnosis; Casey would not have found out about his heart.
We are grateful and blessed that we will still be able to use the National Marfan Foundation for information and help because they also support related disorders. We will still be at Children's Memorial for Rebekah's Cardiac check ups. Our only concern now is finding an Ophthalmologist who is familiar with this new condition. The Doctor who diagnosed her is only in research and not currently seeing patients. She is however, helping us find a new Ophthalmologist, who may be more familiar with Rebekah's condition.
So, waiting year after year for each of Rebekah's echo cardiograms and Casey's too, will be daunting, but we will wait and know that our journey this far has brought us to the exact spot we are supposed to be in. We are learning patience, trust and that everything happens for a reason; we just don't always find out why right away.
Most of us are always trying to be so perfect; to do the right thing; to say the right thing; to act the right way; to look the right way. We don't want our differences to stand out or our faults to show, but it was Casey and my 'defects' that came together to lead to the series of events that may have saved his life!
Thank you all so much for your prayers, love and support. We are in a pretty good place with all this and are learning how to move forward with all our new information. I will put a brief update after Aaron's Echo cardiogram, which we will probably do in the next month. Other than that, I am hoping we will not have any new information to share until Casey has his MRI in February and Rebekah's Echo next June. Of course, if anything comes up in between, we will definitely keep everything updated, but we are hoping for several uneventful and quiet months after the last few crazy ones.
Love,
Deanna, Casey, Rebekah and Aaron
