On Thursday, June 9, 2011, Rebekah had her appointment with the Geneticist and her repeat echo cardiogram. We really were not worried about this appointment and had been thinking more about the appointment with the eye surgeon.
Because it was going to be no big deal, Casey went to work to get some stuff done so he could take Friday off and could relax and enjoy a 3 day weekend. My mom was going to stay home to watch Aaron but decided she would just come with because it would most-likely be just a couple hour appointment.
We left the house at 7:45 am for our 10am appointment. With the rain, traffic and parking, we walked in for our appointment at 9:55 am. You never can tell how long it will take to get into the City.
We were taken to a room very quickly and Rebekah's height, weight and blood pressure were taken. Then we went for the Echo, where the tech let Rebekah test it out herself! She likes to call it "Jelly on the Belly"! The Geneticist came in to examine her several minutes later. She noted that she showed a little looseness in her joints but nothing to worry about at this time. She then told us that as long as her Echo came back fine then she would see Rebekah again in 2 years.
Now, we were just waiting for the Cardiologist to come in with the results of the Echo. After an hour of waiting I finally asked when we would see her seeing as no one had had lunch yet. The nurse came in saying we could just eat our lunch in the room because there was still a couple more people in line before Rebekah and that the Dr. also wanted her to have an EKG. For a fleeting moment I thought it was weird that she wanted an EKG, but didn't think much more than that.
Half way through lunch the genetic counselor came in to inform us that Rebekah's Echo showed mild dilation of the aortic and pulmonary arteries. It is so mild at this point that they are not starting the medication that can slow the process and we will not have to follow up again for a year. If the dilation has increased then they will start her on a medication she will be on for the rest of her life, to slow her heart rate and blood pressure to help slow the dilation.
She also informed us that because she now has the eye and the heart issue, she does have Marfan Syndrome, which is the genetic disorder we couldn't rule out at the beginning of all this. It is a connective tissue disorder that can affect different parts of her body, but at this time only affecting her heart and eyes.
We were not expecting this at all, as we had kind of ruled it out in our own heads and thought that if this was a reality that we wouldn't know it until she go a little older. The good thing is that she is so young and catching it early is a great thing and now she can be monitored with regular check ups and be proactive with issues that arise instead of reactive. It is a pretty common disorder affecting 1 in 5,000 people. People tend to live a long, healthy life as compared to those without it, with some limitations. That being said, they know a lot and hopefully in her life time they will come up with some great advances.
Right now none of this will affect her, but later there will be no varsity sports, weight lifting, sit ups, push ups, roller coasters, scuba diving or anything where she could take a blow to the chest or put too much strain on her heart. Our blessing in this is her love for drawing and dancing. Her natural born loves and talents are calm and not active, so hopefully there will be less we have to say "NO" to.
The hard part about this, is that the symptoms affect everyone differently, so there is no way for us to know if things will get worse or stay the same, or if she will develop some of the other issues that go along with it or not. The unknown is sometimes the scariest part. She is our baby. and of course we want her to be perfect and be able to do everything she wants to do.
Because this is genetic, Casey and I also have to make sure we do not have Marfan Syndrome. We both had an Echo this weekend and will get the results later this week. Aaron has an eye exam scheduled for the beginning of July and will have an Echo only if something comes back on Casey's or mine or with his eye test. It is every possible and highly likely that it was a random gene mutation and will affect only Rebekah.
We have had our moments with all this where we say "why is this happening" but we have also had our moments where we are able to count our blessings in all this!
Our neighbor gave us the best insight that someone shared with her when her child also went though some very tough things. Look at and focus on the things that Rebekah can and will do, and not what she will not be able to do. Rebekah is an AMAZING 4 year old girl. She is reading and loves to read!! She is also an amazing artist and drawing things I will never be able to create!
We have also told Rebekah about all this, in 4 year old terms, and the response was minimal, but we wanted her to hear about it from us because I am sure she will hear us and others talking about it.
Thank you for reading our story this far and we will keep you posted. If you are curious about Marfan Syndrome, a good resource is http://www.marfan.org/.
On a side note, Aaron is doing well and starting to say more and more words every day!
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