Saturday, May 7, 2011

Lighter. So Much Lighter.

Remember how we had to re-do some of the tests that were done on Sam when we were at Johns Hopkins? Well, finally, finally, all are re-done and we have the results. Normal. No "answers" so to speak, and it feels so so good.

To re-cap, some of Sam's metabolic tests came back a little "off." Results that we were told could mean something (some of which were very scary) or could have just been fluke results because her diet was likely off while we were traveling. Truthfully, I could have taken her for the re-do right away, but I kept putting it off. Because I didn't want her to miss school, because (of course) taking your kiddo in for blood work sucks big time, but also (mostly, I think) because I was terrified of the results. Terrified.

But, we finally redid them, and got the results last week. Normal. And, we got the official word from the Hopkins people that we could just chalk the earlier results up to a fluke thing and dismiss some of the possible things - the scary things - we had worried about after seeing the report. I don't think I even realized how much those tests were weighing on me. Because even though my gut told me that it was just a fluke thing, I would still have moments of panic worrying that my gut was wrong. But after hearing "normal," I literally felt 1,000 lbs lighter.

I also felt a huge dose of perspective. Huge. Along this journey, what many of our friends (and even some family) may not realize is that we've had some pretty scary possibilities thrown at us. Because Sam has always been in good health, they were always presented as very remote possibilities, but still . . . possibilities that no parent would ever want to consider. And now, we finally, finally feel like we can "officially" shut the door on those possibilities. And, suddenly (or again, because damn this journey ebbs and flows) "developmental delays" and even "mobility disabilities" just don't feel so big or scary. Those things we can deal with. The scary possibilities put that into perspective in a way that is just impossible for me to put into words.

And, the genetic testing similarly has been chalked up to a fluke. As it turns out, further testing showed that I have the exact same chromosomal abnormalities (both the deletion and the duplication) that Sammie B has. And since I didn't have the same mobility issues or delays that Sam has, the geneticists have said they are pretty darn certain that these things are not causative of anything. There is a very, very remote possibility that Sam is just affected differently than I am by these abnormalities, but both the geneticist and the high-risk OB I'm now under the care of has said they are 99% sure that's not the case. Just a fluke. To everyone who knows us, they know Sammie B looks exactly like me. Now we know - she's no doubt a "mini-me" -- with our unique chromosomes and all . . .

So, ultimately, five months out, the Hopkins journey is officially behind us. It didn't lead to answers for Sam's delays, but as I've said before, we've grown comfortable in this grey area of no diagnosis. Some of the possible things thrown our way were MUCH scarier than grey. And, without a diagnosis, the sky truly is the limit. There's no label or prognosis telling us what Sam is or isn't likely to do. And, so, we will continue to imagine all the things our magical little girl WILL DO in her lifetime.

There is a possbility that we'll wind up with a cerebral palsy diagnosis - as sort of a generic, umbrella term for a "movement disorder," because we've ruled the other possibilities out. Funny thing is, when we started this journey, the term "cerebral palsy" scared me to bits. If a doctor then had suggested it as a possibility, I'd have been a puddle of tears. Now, after the stuff we've considered (and ruled out), its sort of no-big-deal. Just some words. Some words that don't change who Sammie B is. Some words, though, that would help us get and keep services for her, which is particularly important now that she'll be transitioning out of the early intervention program in the next six months. Anyway, we aren't even sure of any of this - just another possible thing our developmental pediatrician mentioned - that although her MRI was normal, she certainly fits the clinical definition of hypotonic CP, so we could fall back on that . . .

In other news, I'm officially in my second trimester, and thank goodness . . . the godforsaken nausea and fatigue that nearly knocked me out of commission for the first few months has passed. I'm still not 100% but finally, finally feeling more like myself again. March and April were tough, tough months for me. I felt like for much of it I could barely function. I fell behind at work and I just felt like all my to-dos - for both work and life were piling up. So, B and Sammie B are spending a fun day together today and I came into the office to try to organize things a little and knock out a few (or a lot) of my to-dos without the normal weekday disruptions. (Um, except that I'm obviously on a blogging break now!)

I also have a tiny little baby bump, and I love it. (I'll eventually capture some photos - the problem is that B leaves for work long before I'm up and ready, and I never feel photo-ready by the time I get HOME from work and see him, and the self-taken shots in the mirror just don't do the trick). This week we are going to a charity dinner to benefit Sammie B's early intervention preschool program and some other organizations that serve kiddos with special needs. It's at a fancy pants hotel in Beverly Hills, and the attire is "club lounge." Yeah. On a weeknight?! Needless to say, nothing in my maternity wardrobe (which I've enjoyed pulling out again!) fit that bill, so last night the three of us hit the mall, and I ended up with lots of fun new goodies, including a pair of designer maternity jeans, a sassy short black mini-dress, and a super cute swimsuit. When I was pregnant with Sam, since I had to buy an entire maternity wardrobe, I wouldn't let myself splurge on good jeans. This time, I decided since I had so few clothes I'd need to buy, I could do that. I can't wait to wear them! Sometimes, its the small pleasures in life :o)

After working all day today, I plan on enjoying my Mother's Day tomorrow. My last Mother's Day to a mother of only one . . . I try to look ahead and imagine my life at this time next year, and I just can't. Just as I don't think pre-Sam I could have imagined how much magic and joy and love she'd bring to our lives. I can't wait to spend the day with her tomorrow. My magic little girl.

She made this at school, and I swear, it melts me everytime I look at it! I brought it to work with me today and just seeing it on my shelf makes walking into my office a happier thing!

Finally, I have to just share my favorite recent "Sammie'ism" (there are so many) - when B throws Sam into the air, he's taught her to say "one-two-three-four-go!" So now, anytime he does it, she yells "more please!" and then "one-two-tee-por-dough!" Only many times she gets so excited so it all runs together and comes out -"one-tee-por-dough!" It's really the cutest. Trust me. Those are the little moments of perfection in life that I hope stay etched in my memory forever.


Sebrina said...

What a relief! we also had to redo some tests awhile back..not so fun!

abby said...

I'm so glad that you've been able to rule out the scary stuff. And it's also amazing how some of the used-to-be-scary stuff doesn't quite seem so bad in comparison (we've BTDT with Hallie a couple of times).

Finally, congratulations on the second trimester. May your experiences be as blissfully uneventful as Sharon's were with Lea!