Wednesday, August 31, 2011

Prelude


I used to Blog, and it was almost like therapy for me. I haven’t since March of 2010, shortly after my daughter was diagnosed with a rare chromosome disorder. I could make up excuses… like I didn’t have time, or I forgot, but they would be lies. I felt, and still do, that I can’t do our situation justice through my words. That somehow it’ll turn into a pity party or a place where I vent frustrations, fears, anxieties about the unknown… and you’ll miss the most important part… how truly amazing my daughter is. SHE IS AHHHmazing; please don’t forget that. As you read about our day-to-day and the challenges we face please don’t forget how much I love her and how blessed I feel that I was trusted to be her mom. I’m fairly confident (If I do my job right writing this blog) that you’ll fall in love with her too.  I think I’ve finally worked up the courage to let the world in on our amazing journey once again (click here for archived blog) …..

                    Meet Madison (2.5yrs old):


Maddie was diagnosed with partial trisomy of 5q when she was 14 months old. It’s very rare, but (thanks to the MIND Istitute at UC Davis, CDO, and Unique) we were able to connect to a few families who have children with similar karotypes. Maddie spent the first year of her life in and out of the hospital for RSV, failure to thrive, GERD, and kidney infections. She is globally developmentally delayed but continues to exceed expectations. She's most affected by her duplication of the MEFC2 gene, which plays a significant role in motor skills and planning. Although she can’t walk yet, I believe with all my heart that she will some day! She can get around pretty good on her knees… and she is constantly moving!!! She’s unique in how she acquires skills… what we think she’s mastered one day, she can struggle with the next. It’s like she knows how, but her brain has a hard time sending off those ‘instruction’ signals. We get to celebrate accomplishments over and over and I will never take a single one for granted. Her biggest strength is her speech….such a sweet voice. That and she has a great sense of humor. It doesn’t take much to get her to giggle or smile… when she does, the whole world lights up.

Her Likes: She loves books! Loves to Eat! Loves her babydolls! And she loves loves loves coconut M&M’s!

5 comments:

Anonymous said...

and her daddy loves her too!

Erica said...

hmmmm, who might have turned her into a coconut M&M addict?

Unknown said...

Grandma thinks she is the most precious little girl she knows and loves her to pieces.

Confessions of a Closet Hoarder but you can call me Judy said...

I just have to tell you I'm so glad you're back! I have absolutely NO doubt you love Madison just as much as Hubster and I love Hopper and Scooter! They're a lot older than little Madison, as they're 18 and almost 21, but I can honestly say that I wish I'd have had the opportunity to vent frustrations, fears, anxieties, etc. when they were Madison's age. If I had, I might not be in the mess I'm in now. So blog, baby, blog!! It's good for you to get your feelings out. To acknowledge them. And most importantly, little Madison knows that she turns your world and that you love her more than life itself!! :)

And I can't tell you how glad I am that you found other families with similar unbalanced translocations. We've yet to find any that are very similar to ours, and it can be a lonely place to find oneself.

If you ever want to talk....you know where to find me. :)

Stacy said...

I have no idea what you're talking about Erica lol ;)

Confessions: thanks for the comment love! have you checked out chromosome disorder outreach? If you register they send you names and email addresses of similar karotypes. If they don't have anyone on file they'll keep your info in case someone happens to join in the future.