Tuesday, March 23, 2010

Chapter 2

I know it's been awhile since I've been here. We took Maddie to the MIND Institute at UC Davis about two weeks ago. It was an amazing visit. I've been afraid to come back here and publish the results. I've been on an incredible high and somehow thought that the moment I posted it... It'd go away. You see, that's how this journey works. There's extreme highs followed by extreme lows. It's a rollercoaster. It's not your typical rollercoaster though... it's a crazy loopty loop, riding on the edge, up in the air, forgot to buckle in kind of ride. Right when you think you're going to fall off... you find balance you never knew existed. At least that's been my experience so far. It's a ride I didn't sign up for... but its a ride I wouldn't get off either. I'm sure that sounds a little like an oxy moron....I guess what I'm trying to say is that I wouldn't change Maddie, but that doesn't mean what we've been through hasn't royally sucked.
We did get answers. We have a better understanding of what our 'ride' will entail. Maddie has officially been diagnosed with partial trisomy of 5q. It's a rare chromosome disorder. So unique that UC Davis only has information from about 15 cases of similar duplications. Chromosomes are tricky microscopic things. The effect of abnormalities vary greatly between individuals... they're relative to the size of the variation, exact location, and well the entire DNA make-up. The geneticist started with a disclaimer: there's no crystal ball to say what's in our future... then they provided us with a glimpse of hope! They also brought in a crane and removed the 30 ton brick that's been residing on my shoulders. You see this wasn't my fault. I didn't do it. It wasn't a nutrition issue, or caused from stress, the kidney stones I had while pregnant didn't cause this. It happened at conception. It just happened and that is liberating. I know you all want me to cut to the chase...what does this mean for Maddie? I'll get there I promise!

When we walked into the institute we were greeted by the receptionist... although we'd never met her... she knew who we were. Afterall, we were the 10:30 appt. I didn't have to hand over our insurance card or fill out paperwork. Everything was transferred from our referring physician. (If there's a Dr. reading take notes on the above) We proceeded to a waiting room that was stocked with toys for kids of ALL abilities. Then they led us to the exam/oberservation room where an intern came in and talked with us for awhile. She prepared us for the appointment, asked our expectations, and gathered a little family history. She also thought Maddie was the cutest thing. Then the geneticist came in... SHE WAS AMAZED. Maddie was crawling around saying dada. She had expected to see a different baby, not only in skillset, but in appearance. Maddie doesn't display any of the facial features of the disorder. The doctors' presentation was perfect. She focused on the things Maddie could do and there was pride in her voice. She got it! Finally someone got it! It was as if she knew what it was like to be in our shoes. She was empathetic. She had personality. She made me feel like a good mom. The chromosome abnormality explains Maddie's global development delays, it explains her kidney problems, IT EXPLAINS HER LACK OF GROWTH/FAILURE TO THRIVE. There were previous appts where I really felt like I was being accused of not feeding my child. I fired a pediatrician because of her round about accusations. But Nope, I TRIED.. oh man did WE TRY. Maddie is small (she does have GI issues) but she will probably be small her whole life. Small's cute right? We were warned of heart problems and siezures. These are effects of the disorder that we need to keep an eye on. Thank god they haven't been thrown into the mix yet... I pray they never are! The geneticist mentioned absent speech and mild mental retardation. She wasn't the least bit concerned with Maddie developing those because she displays some cognitive ability and has a few words. The phrase that the geneticist said that was the most uplifting was "when Maddie decides to have children she'll want to meet with a genetic counselor prior to" I had kissed that thought along with the thought of Maddie having anything close to a typical life goodbye when Maddie was iniatially being tested for cystic fibrosis. We've heard so many theories... none of them resulting in any thing close to typical. But this wonderful doctor thinks Maddie's going to be okay. She thinks Maddie's going to get there... it's just going to take her a little longer. We're going to have to work a little harder. So now we know....we know what we're up against. We know just how truelly unique our little Maddie is. We can begin a new chapter. The beautiful thing is that Maddie doesn't know she's different. She's perfectly content being Maddie. So, I'll be waving my arms up in the air on the next loop of our rollercoaster... although there's no crystal ball, my faith has been restored in happily ever afters and I feel ready to take on just about anything. Please  remind me of this the next time we get catapulted unto a loopty loop.


  1. so fantastic!! even though I knew it all already it was still so fun to read it again!
    huge big hug!!

  2. Congrats and good luck. How is Frank's son if you do not mind me asking?


  3. You describe the roller coaster so perfectly! Sometimes, I've felt like on my journey with my delayed little girl that there's something wrong with me . . . that I'm so damn hopeful and optimistic one minute and can't function depressed the next, but now I know . . . I'm not alone. So glad the appointment went so well. Here's to your girl, and mine! May they both surprise their doctors, their therapists AND US!!!