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April 30, 2011
Welcome to another fun Saturday Playdate! Today we're playing with Laura from Anna & Essie. Laura is a mom of two beautiful little girls...can you guess what their names are? Her blog is a little-of-this-and-a-little-of-that, which is my favorite kind of blog. You can read it and feel like you know her.
When you're done here, please check out Laura's blog. Leave her some comment love and let her know you stopped by from the playdate.
Hi I'm Laura from Anna & Essie, and I'm really excited to be invited over for a play date! I write about a lot of different subjects on my blog, but when I get the chance to do a guest post, I always want to let people know about the subject nearest and dearest to my heart...being a special needs mom. My oldest daughter Anna is just days away (we hope) from getting her final diagnosis of MeCP2 Duplication Syndrome (you can say it like meck-pee-two). This disease was only discovered in 2005, two years after she was born. When it was discovered, it was originally thought that it was impossible for girls to have it. So finding out the problem with her has taken quite some time, and took a lot of maternal instinct. That's the story I'd like to tell you today to encourage all moms to understand that they know their kids better than anyone else, and that if they have a nagging feeling one way or the other, it usually is that maternal instinct and it's good to listen to it. First let me introduce you to my sweet Anna & her darling little sister Essie. This photo was taken about five months ago, so they've both changed and grown since then, but this is a pretty good photo so I'll share it:
I have no idea how you're going to pay attention to the rest of this story with all that cuteness on the page, but I'm sure you'll try. Our story starts of course when Anna was born. She cried a lot and was a very "floppy" baby. The first time my maternal instinct kicked in was feeling like she really NEEDED to be held a lot. It was different when Essie was born. I could really tell when she just wanted to be held and when she needed to. With Anna, it seemed like she always needed it. I got a lot of flack from a lot of people because I wouldn't put my baby down. I let her sleep in her bed at night and such, but during the day she wanted to be held and I let EVERYTHING else go and held her. Other people in my life could only look at the situation and see a first time mom that fell in love and wouldn't put her baby down to do the household chores. But I knew it was more than that, and I held on to that knowledge...and to my baby. Here's a baby photo of her. Note if you can that she was a more scrawny-like baby, not at all like her little sister who was a healthy chub-ster from day one.
It looks like she's winking...how cute is that? So as this story progresses, we noticed that she wasn't meeting her developmental milestones. Every time we'd go to the doctor she'd say, "Is she waving bye-bye, is she she saying ma-ma?" (etc. etc.) And I would say no. Now, here's a part that a lot of moms may identify with. My well meaning friends and family were saying, "You have to work with her on that, you have to teach her." So here I am thinking I'm not doing right by my baby. What if they're right? What if all this holding her has just spoiled her and I'm not doing what I should be doing like teaching her how to say ma-ma and wave bye bye? It was not a good feeling.
I think one of the most difficult moments in my life was when tests were ordered and we went to see a neurologist. In that appointment this neurologist confirmed that there was definitely something wrong. Though a lot of worry clouded my mind, a wave of relief flooded over me. I hadn't done this. This was not neglect, and my instinct to hold her had been right. I say it was difficult because I felt guilty about being relieved; nevertheless, I was very relieved that I hadn't done something to delay my child. If anything, I helped her because I gave her that security of mom's arms that she desperately needed.
I realize this story is getting long, and I apologize. It's a lot to tell and if you're a mom struggling with any of the issues I have, I want you to "get" this. Still, I'll try to jump forward here. The initial idea was that Anna had some type of mitochondrial disorder. The problem was, the only way to tell which mitochondrial disorder it was, was to do a muscle biopsy. With this procedure, you go to Atlanta for four days and they cut a piece of muscle out of your child's thigh to analyze it. Here's the kicker...even if they could find which mitochondrial disorder it was, there's no treatment available for any type of mitochondrial disorder. Guess what I said? Nope! No way, not gonna happen. I got a lot of pressure and a lot of flack about this from doctors. I also got a little bit from concerned family members, but they mostly tried to understand and support my decision. Not doing the muscle biopsy right away made things difficult because it can be tricky to get services at school and/or any kind of other help without a final diagnosis, but we've managed.
Finally in 2010, when Anna was seven (the age she is now) my instinct said it was time to do the muscle biopsy. When we met with Dr. Schoffner, he assured us that he wasn't only looking for a mitochondrial disorder, but WHATEVER this is. They didn't just take muscle, they took blood and urine too. By the way, I love him. He is just awesome! If you have a kid that needs to see Dr. Schoffner in Atlanta, get your mountain of paperwork in. He r-o-c-k-s!
So, of course Dr. Schoffner found a duplication on the xq28 chromosome (On the MeCP2 gene) and no mitochondrial disorder. But, here's the thing you need to "get". If we had done that muscle biopsy even two years earlier we wouldn't have found the source of the problem. (I was being pressured to do this biopsy from the time she was two years old.) The blood work, not the muscle showed the duplication, but because the disease was undiscovered until two years after she was born, and then for a while believed to be impossible for girls to have, the blood they took wouldn't have been tested for it if we had done the muscle biopsy any earlier. There are girls that we now know with MeCP2 that were being told as late as 2007 (when Anna was 4) that they couldn't find the problem. I think that would have been more frustrating than waiting around all the time we did. Of course if you suspect MeCP2 you can ask your doctor about a blood test, not a muscle biopsy. It's only relevant in our story because they suspected a mitochondrial disorder and a muscle biopsy is the only way to detect which mitochondrial disorder a child may have.
Anyway, that's my story. Trust your instincts! You're probably wondering how MeCP2 affects Anna. You can read the post that I wrote about MeCP2 Disease Characteristics which describes how it affects boys and girls differently, and specifically how it affects Anna. Thanks for reading my Saturday Play Date Post, and be on the lookout for the new MeCP2 Kids non profit organization coming soon. Here's one last photo of Anna with her "best friends", Minnie and Daisy. Have a great Saturday!
Thanks for stopping by for our playdate! I hope you had fun! If you would like to come over for a playdate, let me know in a comment or an email.