It has been a pretty hectic month here.
This weekend, we confirmed that Grace, like her Daddy, has Marfan Syndrome, a genetic connective tissue disorder. We visited Joh.n Hopkin.s H.ospital and met with the world's best Marfan Syndrome doctor. She has a mild case (if that's possible) of the disorder but we are monitoring closely to make sure it stays that way.
Its hard to type this out and talk about it every time the phone rings. So, I apologize for the repeativeness if you have already read the following (I am copying it from an email sent to our family this weekend).
I realize that the news of Grace's Marfan Syndrome diagnosis is very emotional for everyone. It is for us as well (though I think that's obvious). I also realize that it may be a little easier for us to deal with because Hubby and I have done so much research so that we can understand the syndrome. For me, I need that so that I can feel better about both Hubby's and Grace's health, now and in the future.
Marfan Syndrome is a fairly rare syndrome, though we read recently that it is one of the most common inherited connective tissue disorders. There is so much more information available now than there was when Hubby was diagnosed in the mid/late 1970s. Here are some links to help you understand the syndrome. If you have any questions about it, please ask. As you read some of the reports and findings about Marfan Syndrome, please remember that Grace (and Hubby) are mild cases of Marfan; many times the reports and information talk about severe Marfan Syndrome to illustrate what can happen within the syndrome. Marfan's tends to mimick itself within a family; Grace's case will be similiar to Hubby's---not severe at all. See----silver lining can be found if you just look for it! :)
Again, thank you for your support---just knowing that you all love Grace is enough for us. We love you too!
National Marfan Foundation
Characteristics of Marfan Syndrome
Pediatric Marfan Information
Grace's lenses are subluxated. 2 eye doctors in our area want to remove them and put her in glasses. Dr. Diet.z has strongly discouraged this procedure at this point. We will be visiting the eye clinic at Jo.hn Hopki.ns to get Grace glasses that will correct her vision without removing the lenses. Surgery will always be the last resort. Later in her life (late teens), lens replacement could be possible but that is far down the road.
Grace has a slightly enlarged aorta and will be taking At.enolo.l to stop/stall the growth of the aorta. In 3 months, we will visit the doctor again to make sure she has the right dosage.
Grace's doctor at Joh.n Hopkin.s is Dr. H.al D.ietz. He is the Chair of the Professional Advisory Board for the National Marfan Foundation and is the world reowned expert on Marfan Syndrome. We want the best doctor in the world for Grace and we got him! Dr Die.tz is also getting a genetic profile from Hubby so that he can isolate the actual gene mutation.
So thats is that. We have confirmed what we knew deep in our guts for years. We are okay. Its not the outcome we dreamed of but it is what it is. Grace will have a fabulous life and Marfan Syndrome will just be a part of it.