Soooo... where do I begin.
We were able to get an appointment with the Ophthalmologist who specializes in Marfan Sydrome very quickly. Rebekah, Casey and I took the train to Chicago a couple weeks ago for the appointment. It was much better than the stress of driving and parking and a great diversion for Rebekah. She loved that she didn't have to be in a car seat. We were also able to take her to Millennium Park to see the bean and play in the fountain. We left this appointment confident in one decision and totally confused with other information we received.
I will start by saying we are totally confident in the fact that we are going to hold off on eye surgery for a while. Hopefully this wont have to happen until she is a teenager. Rebekah will need to have her lenses removed at some point in her life. She is currently in the best prescription possible for her, but in the left eye that is not saying too much because she still can't see very well at all. However, her vision is very correctable in her right eye and when the 2 eyes work together she functions extremely well.
Ok, so on to our confusion...This Ophthalmologist, Dr. Maumenee, who has seen thousands of Marfan patients and is board certified in medical genetics, thinks that based on the shape of Rebekah's lenses, the way they are shifted in her eyes and a few other things, that it is possible that Rebekah could have a different genetic disorder called Ectopia Lentis et Pupillae. HUH??? This disorder would only affect her eyes, which doesn't account for the dilation in her heart but something else we now have to look at. We are in the process of getting paperwork filled out to have more genetic testing done for this disorder. So, before I give you my conclusion for all of this let me tell you about the rest of that week.
If you remember, in one of our past posts, I said that Casey and I had to have Echo cardiograms to make sure we were "OK". Long story short (as short as I can). My echo came back normal. Casey's echo showed that his aortic root was measuring on the high side of normal. Because Marfan Syndrome is still a question we needed to get this further checked out. Two days after Rebekah's appointment, Casey and I got back on the train and went to Northwestern Memorial Hospital to see an adult cardiologist. She was not concerned with anything she saw during his exam but wanted him to have a MR done to get a more accurate picture of his heart. Needless to say, they couldn't get him in that same day so 3 days later, Casey got on the train once again and headed down for his 1 1/2 hour test in the tight tube of an MRI machine. These scans showed that Casey has mild dilation in his ascending aorta and aortic root (where the aorta meets the heart). The cardiologist is starting him on beta blockers to slow his heart rate and blood pressure so the heart doesn't have to work so hard to pump the blood and in essence, slows the dilation process. He will have another MR done in 6 months. If there is no increase in dilation then he will just go for regular maintenance exams and scans every 6 months to 1 year. If there is an increase, then other options will be looked at. So, in the mean time, please don't call Casey to help you move all your heavy furniture or be your spotter as you bench press 200 pounds.
So, to conclude we have a couple options...
1. Casey also may have Marfan Syndrome
2. Rebekah has just this eye issue and there is some other genetic heart disorder that is affecting both of them.
3. ???? Leaving it open because it seems like the unexpected has been popping up a lot lately!
I know you all are already doing this, but please keep the loves of my life in your thoughts and prayers! Now it will be a waiting game again until we can get this other genetic test done for Rebekah and then wait to see what Casey's scans say in another 6 months.
To end on a positive note, we are looking at it like this... Rebekah may have just saved her Daddy's life and for that we are GRATEFUL!
Love,
Deanna
