February 15, 2011


This is our new face of Ehlers-Danlos syndrome. Aren't they just the cutest things?

In all fairness, Adam is the one who was diagnosed this week and Meg hasn't been examined yet, but based on my statements to the geneticist, she has the same genetic disorder. As far as genetic disorders go, this is an easy one to have. I am glad to finally have something to point to and show the doctors from my past I am not a bad mother, even though my children scar and bruise easily and that I am not insane for insisting that a 2 year old waking up screaming his legs hurt at night was not normal. It's not just growing pains.  Now that we know what it is, we know what to look for in the future and what to do about it now.
   Adam has the Hypermobility type (formally type 3) of Ehlers-Danlos. There are other types, and sometimes symptoms overlap, but for the most part, that is his diagnosis. From the EDNF.org site, here's the description:
    Joint hypermobility is the dominant clinical manifestation. Generalized joint hypermobility that affects large (elbows, knees)and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement (hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity.
   So the fact that he had "nursemaid's elbow" for the first time at 3 months old and then almost monthly until he was 3 is now magically explained. The long term affects of this disorder are early onset arthritis, say in late 20's or maybe earlier. Scoliosis, which he already has a bit of and easily injured joints. Connective tissue in the eyes may also be affected, so we will watch for that. Treatment at this point is limited to physical therapy to strengthen muscles around joints that could be easily injured. It's not going to be a big deal right now. As they get older, different things may come up, but at least we know what direction to look in now. This also means his NFL career is over before it began, the NBA is out, and he will not be an Olympic wrestler, gymnast or skier. He could still take the gold in swimming though or take the Tour De France title at some point, so look out world.
  Here's the cool factor... at least my kids think so. Bug can take his left arm, wrap it around his back to the right side of his body and touch is belly button. That's pretty darn flexible. Meg can crinkle her thumb back almost to the point of touching the back of her hand with it. Crazy. They think party tricks are fun.


Annalia said...

OH, my! Validate's your mommy instincts...how did you finally end up with a diagnosis?

Leslie said...

Wow I bet that feels good to have some answers. Glad you found someone who could give them to you.

Katidid said...

Knowing is half the battle, its good to hear your positive attitude!

Jacob Bastian Posterity said...

I am happy you have a name/diagnosis for all the troubles you have gone through. But knowing your kids, they will do amazing things all their lives despite their setbacks.