Thank You Doc

Victor McKusick passed away 2 days ago.

What a devastating loss for the Marfan community. Because of this one man, we know how to manage Marfan Syndrome, what to look for, and that those affected with the syndrome can still have full lives.

He diagnosed B when he was a child and he taught G's doctor everything he knows so we are actually feeling the loss pretty personally. The memorial service is Saturday August 2. Maybe we will go. Its only an hour away. Maybe we will go to honor what he has done for the Marfan community and to thank him for his work....his work that will never be forgotten by all those with Marfan.

Thank you Doc. May you forever rest in peace.

Joining the Club

Another appointment which means another drive to Baltimore.

2 more weeks until my little girl joins the club.....you know, the Glasses Club. Her lenses are dislocated and so we are heading back to Hopk.ins to see the eye specialist who works with Dr. Die.tz for an evaluation.

The 2 eye docs we have seen in Norther.n VA both said that surgery to remove the lenses is our only option. I was devastated to hear that. It was hard enough to hear the news that G does in fact have Marfan Syndrome but that I could rationalize and handle. I couldn't and still can't handle surgery as our only option. There has to be something else to try before going to that extreme, especially on a 4 year old child.

And there is.

Apparently, there is success with glasses and no surgery on children with dislocations similiar to G's. Before committing to 2 surgeries on my little girl, we are going with glasses only.

But I am nervous. What if this eye specialist sees something that would prevent that treatment route? What if he tells us that we have to do surgery? B had the same surgery 30 years ago and he is okay. But I just cannot imagine watching doctors take my 4 year old baby into surgery....twice since they only do one eye at a time. I just cannot handle that.

So let's think happy positive glasses thoughts. G will be adorable in her pink glasses with Princess written down the sides!

A New Calm

It has been awhile. Too long really.

The past month has been an emotional roller coaster for us. Except that roller coasters end; this one will not.

After phone calls and emails, we got G an appointment at Joh.n Hopk.ins U with Dr Ha.l Di.etz. He and I have exchanged emails for the past 5 years (since we found out I was pregnant) about getting a definite diagnosis.

On June 27, we got just that. G has Marfan Syndrome. Her lens are dislocated 30% and her aorta z-score is 2.2. And she has flat feet. Other than those symptoms, she is completely healthy. She adored Dr. Diet.z, even used his measuring tape to measure Mommy and Daddy after he was done taking all her arm span and leg length measurements.

During the drive to Balti.more, we talked about anything BUT Marfan. On the way home, a new sense of calm appeared. I spent a few days trying to figure out why that was. And now I know...and it seems like the simplest thing that we have been searching for these past 4 years; for the first time ever, we met with a doctor who knew what he was talking about and could actually answer my questions about Marfan without Go.ogl.e's help.

And that alone made me feel better.