One more from John Hathaway
Posted at 2:30 AM
I wanted to try and submit something "original" for the site. So I focused on my new point of view as a parent.

When you're a Marfan married to a tall person, it makes denial all the easier for relatives, regarding your kids:
"Oh, look what long fingers she has!"
"Oh, look what long toes she has!"
"Oh, she's so tall!"
"Oh, she's so thin!"
Then her sister is born.
"Oh, she's so chubby!"
(and no one says anything about how tall or long she is)

I'd always thought that Marfan was pretty much cut-and-dried, within a family at least. I knew there would be some minor variance, but I didn't realize until recent years how much it can vary within a family.
Like Mary Kossack's story, there was obviously something "wrong with me" from the day I was born. I was diagnosed at age 2. I've always been weaker, more easily tired than my peers.
Now, after diagnosis, a good part of that was the beta blockers, but it's also just from Marfan.
Don't get me wrong--I got into my share of trouble as a kid--but I always had a point where I'd wear down.
Now, my daughter's like the inversion of me. My mom, my wife and the ophthalmologist have all seen her lenses "flicker" (though the ophthalmologist didn't think it was indicative of Marfan for some reason). She sees very well, though, whereas I was blind as a bat.
She's a ball of fire, tearing around, always doing something, and she doesn't have an "off" switch.
But, on the other hand, if you look at her ,and you know what you're looking at, you can *see* that she has Marfan. Her fingers are "just so long." Her arms are "just so long". On the rare occasino she has her hands down at her side, they practically reach her knees.
She towers above little kids who are years older than she. ("Oh, but her mom's tall." "Yeah, and we have lots of tall friends, whose kids are shorter than she is"). She's two-and-a-half years old, and there is no longer a "safe" place in the house to keep things out of reach.
I'd always figured I'd know what to expect when it came to having a kid with Marfan. I'd also figured that having a kid with Marfan would be, in a way, "easier," because he or she would be as easily worn out as I've always been.
I'd tell my parents, "I think I've had enough fun for today," and I still usually have that feeling when I've been awake for about 3 hours.
But, nope. You can never be prepared, when it comes to kids.
I've got a kid with the reach, flexibility and thinness of a Marf, but (thankfully) without any cardiovascular manifestations as of yet. So she gets into *tons* of trouble.
But then, we can just feel her little bones flex and creak just holding her hand or picking her up.
Her chestbone is sunken in--a problem I never had.
Just holding her now evokes feelings of parental worry for my wife and me both.

Our biggest fear is that she'll live in "medical limbo," waiting years for a definitive diagnosis--that we'll take for granted that she's "healthy," and she'll be in for a horrible shock one day, or that we'll assume she's a Marf and stunt her personal development when she turns out to be "fine."

Never take anything for granted!