If you haven't noticed - I haven't been here for three long days. Sorry about that. If it's any consolation, what may have felt like three long days for you felt like thirty long days for me.
On Thursday, Gavin and I went to the hospital for his blood test and to meet with the geneticist. As usual, Gavin was a champ with the blood draw. He laid on my lap and barely flinched. We picked a cool Handy Manny sticker from the basket when he was through. And then we waited. While we sat together before meeting with genetics, I entertained Gavin with my phone.
He enjoys seeing our picture...
He enjoys seeing our picture...
...and I love taking them.
Dr. Gripp, Gavin's geneticist, was out of the office - but we met with her assistant, Beth. She went over the more confusing parts of the Exome Sequencing. The great news is that Gavin didn't have any markers for future diseases... things like Cancer. And there was news that kind of made us laugh. Ed and Gavin share a gene mutation that causes "Semi-Autosomal Dominant Ichthyosis Vulgaris." Basically - this explains why the two of them have dry skin. Why we bought stock in Aquaphor for Gavin...why Ed sometimes sounds like he's scratching to the bone. It was very interesting to get validation for little things like that.
We're still waiting for further testing before we discuss the possible diagnosis that came back for Gavin. It's not something I want to attach to him until we know for sure. This Wednesday I'll be back at DuPont with Gavin to meet with his Neurologist and a Neuromuscular doctor to discuss our next steps. Thanks in advance for your prayers.
I'm not new at this genetic testing business. We've been at this since Gavin was an infant. A test for a syndrome here...a test for a disorder there...and each test came back negative. I've never really had a panicky feeling about any of them. Until now. And I've never felt like I wanted a diagnosis more...until now. I don't know how to say this in a gentle way, so I'll just blurt it out. I need to know if Gavin has a diagnosis that will shorten his life. It's overwhelming my thoughts.
Probably not a coincidence, but my Rheumatoid Arthritis is out of control. I also had a flu shot this week which I had a bad reaction to. I landed in the emergency room. Crazy, right? But it was four hours of peace, reassurance (Xray and blood work and CT Scan - it all came back normal which I knew it would), and pain relief. It was Ed that put two and two together that it was the flu shot. I was dizzy and blacking out...in terrible pain all over my body...and I had pain radiating to my back that was enough to scare Dr. Trish at Gavin and my appointment Friday morning. She implored me to be seen as soon as possible. That was the bad news. But I was super happy that she was able to see Gavin's new accomplishment before we left! All of a sudden he's started to CLAP!
This is such a big deal. Check it out...
When I got home from the E.R., Ed took over with the boys so I could lay down. This is something I so rarely do and it gets me so bummed out. I really hate when my body fails me like this. At bedtime, Ed brought the boys in and they hung out in bed with me so I could say goodnight. Brian stayed a little longer and we told "ghost stories" for a while.
Definitely cheered me up!!
Today we headed over to my Mom's house. I'm making her a rich woman selling some of her things on Craig's List - and today we wanted to be there when a buyer showed up. I love being in my childhood home. There's a great memory in every corner of every room. Especially the basement. All five of us played down there. I was sure that years of practicing my roller skating routines on that tile floor would launch me into stardom. I'm sure I can speak for my whole family...that basement, "Granny's basement," is magical. Watching all the grandchildren playing down there, just as we did when we were kids, is so heartwarming.
I spent hours playing "school" with these school desks.
Brian and I had fun fighting over who gets to be the teacher when we played "school" today. Play imitates life once again.
The last few days have...well, they've sucked. I feel like the tin man. Every step, every move feels painful. It's very depressing. I never stop moving - there's things to be done, diapers to be changed and playing to do. But it sucks. Ed has been great, as usual, and so understanding when I give him that *look* he knows all too well. The look that says "I need you." Not to open jars or lift Gavin or put on my necklace - but to make me laugh. Tonight, he gave me more.
He gave me the Cha Cha.
And next thing I knew...I was happy again.
You should try it.