Diagnosis FSHD

It's been a busy couple of weeks.  Right after vacation, I took of 2.5 days of work to go down to Johns Hopkins with my mom as part of a clinical research study.  After years and years of mis-diagnoses and incorrect diagnoses, she finally got a definitive diagnosis of Facioscapulohumeral Muscular Dystrophy {FSHD).  So, she and I went to Maryland as the "affected" and "non-affected" family members, and gave them blood samples and had a muscle biopsy done.  All in all, we were gone for 3 days...the longest I've ever been away from either of the kids.  And, as nice as it was to have the break, I missed the hell out of them.

Night one, Bailey called me in tears.  She missed me, she couldn't sleep, she wanted to know when I would be home.  It was rough.  Before I left, she gave me her t-ball trophy from this past season and told me to take it with me "to remember her".  So, as soon as I got to my hotel room the first thing I did was unpack that trophy and put it on the shelf across from my bed.

Our first day was a breeze.  We had to be at the hospital around 9ish, so we met for breakfast early, I filled up on coffee, and we headed the few blocks over.  After a physical, I gave 12 tubes of blood, and then my job for the day was done.  Easy peasy.  My mom took a little longer because she had more tests to do, but we were out of there around lunch time...just in time to walk around Baltimore a bit, grab some lunch, and stock up on little trinkets for the kids.

This bad boy was 45oz. of margarita deliciousness...and I downed the entire thing.  For lunch.

Day 2 was a little bit harder.  Mom and I were due at Johns Hopkins at 12:30 to check in for our biopsies.  We checked in, they gowned us up,...and then we waited.  For hours.  

I was awake during the procedure, and it was both fascinating and excruciating.  I had to lie down on a table in the OR and my legs, torso, chest, and arms were all strapped to the table so I didn't "try to help with the procedure".  My bicep was prepped and then a sheet was propped up on my chest so that I couldn't see what was happening (smart thinking, doc.  VERY smart thinking).  The surgeon injected a decent amount of lidocaine and got to work.

The procedure itself wasn't awful.  The sounds of the metal surgical instruments clanking together, the snipping of the "scissors" as my muscle was cut and removed, the feeling of blood trickling down the part of my arm that wasn't numb from local anesthetic, the thought of what was actually going on behind that blue sheet...those things messed with my mind in a way that was both cool and overwhelming.  I had fabulous doctors and nurses in the room with me, and they did their best to talk to me and distract me from what was going on but it was hard not to focus on the procedure.  I could feel my arm being tugged and kept picturing the muscles in my body the way they'd been shown to us in high school science text books.  At one point, my muscle tensed (I'd been warned the day before that this might happen)...while my arm was cut open and the muscle was being cut.  The pain lasted for about 5 seconds but it was the longest 5 seconds of my life.  It was so surprising and painful that my entire body responded, jerking once quickly and breaking into a cold sweat.  Once the muscle relaxed, it was smooth sailing again, aside from the tugging and cutting.  The procedure took a little less than an hour, and left a scar that's a little longer than an inch long on the inside of my arm.

My arm was pretty sore for the next few days, but it's getting better and we're coming up on the end of the 14 day waiting period (I can finally keep the bandage off and the stitches should dissolve quickly).  Plus, we treated ourselves to some of this amazing-ness:

Overall, it was a good experience.  I missed the hell out of Scott and the kids {and I'll admit I'm a little nervous to get the results from my genetic test back} but I feel good that I "helped" in some small way.