Sunday, June 1, 2008

Introducing, Gianna

At first, I thought that to write this particular post, I would have to be medically technical and get all the details just right. So day after day, I pushed the idea aside and went on procrastinating. Well, it just came to me in the shower that this is MY blog, and I don't have to be meticulous all the time, I can get details wrong and then go back and fix them at a later date if need be. So instead of inundating all of us with medical jargon, I will just tell you about my adorable niece, Gianna, also known as Poopy Pants, and about some of the difference between her and the average child.

When Gianna was born in February of 2,006 she looked like any other baby, except the girl was HAIRY. I'm not just talking about your average peach fuzz baby. This kid had HAIR. On her arms, on her legs, on her back, on her hiney. And above her hiney there was such a thick, long thatch of hair that we used to call it her tail. She also had a unibrow, but big deal... we're Italian, and Gianna's dad is half black/half white. Hairy faces are nothing new to us! But Jill, being neurotic about her children's appearance, starting shaving in between Gianna's brows when she was just a few months old and and has kept doing it since. She was also born with many Mongolian spots, which doctors said would fade over time, as they have.

She was as sweet and funny baby and never failed to melt me whenever I was around her. I always knew there was something special about her, but I never realized that it would turn out to be a medical problem. When it was time for Gianna to start walking, she didn't. In fact, she never really crawled either. She kind of kept her legs in front of herself and pulled with her arms to get where she wanted to go. So, 17 months, 18 months, 19 months old and she's still not walking and the pediatrician is starting to get concerned. Off to therapy she goes but still, no walking. Next it's the neurologist. Everything seems fine. I don't remember how Jill got sent to a geneticist, but when she did, it was quickly found that Gianna has a very rare syndrome called CdLS, which stands for the doctor who first discovered it; Cornelia de Lange.



What was this syndrome and why have we never heard of it? Why didn't any of the doctors pick up on it quicker? Well for one, Jill erased the most telling physical feature of a child with CdLS... the unibrow. Gianna is lucky compared to many children who suffer with this syndrome, in that many are mildly to severely retarded and have a very odd look about them because their features are so different. Gianna does have a smaller head than normal, and she does have the unibrow, but it's not curved as much as most kids with CdLS. So far she has shown some signs of autism but very mild at this point. Her hairline is low in both front and back, her ears are a little lower on her head than what is "normal", and yes, her body is still fairly hairy. But outwardly this is about all you would notice, if you noticed at all.

Gianna is walking now, although a bit on the wobbly side, and she still doesn't take a step up like an average two year old would. She's even putting some words together now! This was amazing for all of us, because we weren't quite sure when or if she would actually talk. Mostly it was just grunts and funny sounds for a long long time. A few weeks ago she was here, and as they were leaving I told Gianna I loved her. I nearly melted in a puddle on the floor when she replied, "I dov doo doo, Tiney!" Music to my ears!




There's still so much for geneticists to learn of this syndrome, and the symptoms vary so much between each individual, that we have no clue how Gianna is going to develop from one stage to the next. She could wind up with heart problems or any other of a multitude of health issues. She's already had to have tubes put in her ears and her adenoids removed, but so have a million other kids, right? No one knows what her IQ will be like, if she'll have learning disorders or behavioral disorders like her older sister, Alexa. With CdLS it's all a waiting game to see how your child will develop.



She does do things that most average two year olds probably wouldn't do. She will eat ANYTHING, and I mean anything. Doesn't matter how bad it tastes, Jill has to watch her like a hawk. Dog food, cat food, deodorant, Balmex, batteries, candles... these are just some of the things she will put in her mouth and try to actively eat. She doesn't seem to understand basic discipline, so trying to put her in time out or something along those lines is a waste of time. We jokingly call her "bad bad baby" because she goes from room to room causing havoc. If there's a cup of water or soda on a table she'll just knock it off and go on her merry way. If there's a big bowl of water down for their dogs, she thinks nothing of stepping into it and taking a little sponge bath. She's hysterical in her badness!

One thing is for sure though. I love this child with every breath I take, and there's something so special about her that just hits you right in the heart. Every time I'm around her she makes me laugh, and sometimes makes me want to pull my hair out. Or hers! But that's my Poopy Pants!

P.S. Click on the title "Introducing, Gianna" to be brought directly to the CdLS website!

Until next time, Justine :o )

18 "Sister" Lovin' Friends Said:

  • Anonymous

    She's such a pretty little girl. I'd love to see her grow and be happy without any further complications. LOVE YA!!!
    Julie

  • Tootsie

    what a beautiful child! she is so special and you are as lucky to love her as she is to love you. I have seen someone else with this affliction ( or very similar). She is a grown woman. She is almost totally "normal" except for the fur she has all over her body and face. I actually thought she was a man the first time I met her. People were staring at her and some were snickering at her beard and unibrow. Not liking to see someone's differences make them sad...I walked over and sat beside her and we chatted a little. Her speach was a bit slower, but nothing other than her appearance would single her out as anything other than a little hairy. Her two children have the same issues. I do wish she would wax or shave to help aleviate some of the snickers she gets. I guess she is just tired of it, and wanted people to take her for who she is.
    thank you for sharing this with us Tiney!

  • Justine (Justwaaaa)

    Tootsie, thanks for stopping by and commenting on my sweet Gianna. I think the disease/syndrome you saw that day was something totally different than what Gianna has. CdLS children are hairy, but not THAT hairy. I know I've seen programs on that particular affliction, but don't remember the name of it.

    Justine :o )

  • Terrie's Lil' Piece of Serenity

    Justine, Thanks for sharing this story about Gianna. She looks like such a sweet little girl. I think she's adorable. I think I've told you that before. I'm so happy that she's walking and talking. That will give her a better life. I think she's lucky to have a aunt that loves her so much. Have a beautiful day!! Terrie

  • Terrie's Lil' Piece of Serenity

    Justie, I am tagging you to show your teacups. Kathi from
    http://featheringnest.blogspot.com/
    tagged me. the funny thing is I only have 1 teacup. I use my coffeecups. I do hope you'll join the fun and post your teacups.
    Terrie

  • Anonymous

    Justine, your niece is an absolute doll and with all of your family's love and support she will succeed with everything in life! Thank you for the information I have never heard of this syndrome before.

    Cardinals

  • SchmeckyGirl

    Yay! You wrote about Gianna. She's adorable. You are blessed to have her in your life, as of course is Jill. I'm happy to have "met" her. Kisses for the little sweetie.

  • Kathi

    Justine, Thank you for stopping by. Your story about your daughter is so touching. She is such a sweet darling little girl. I do hope she has no further development issues. I'm so glad she is walking.

    You may show any tea cups or coffee mugs that you would like. Thanks, I will be back to visit
    you. Bless you, Kathi
    Here's my blog: http://featheringnest.blogspot.com/

  • Anonymous

    Blessings to your entire family. The love of family brings strength to all.
    Naz

  • Dazzlemama

    Gianna is a sweet little thing!

  • Anonymous

    I love my little girl so much. We have accepted her differences and love her even more for them. She makes us smile every day.
    Gianna loves her Tine!!!!!!!!!!!


    Jill

  • Elisa

    Aww this really touched me. I got to meet Jill and the girls while staying in the Ronald McDonald House. GIGI as I call her is soo sweet. I can't wait till I meet all of the family one day. Jill and the girls have become like family to me.

  • Dinabu

    Gianna is absolutely beautiful and the world is a better place with her in it to show people the true meaning of love. :)
    h
    Hugs to everyone, wish we were closer, we'd have a ball with all the kdis together@

  • Bridget

    Justine, I can see why Gianna melts your heart! She is a very special little girl. There is no shortage of love for her or from her. You are all lucky to be in each other's lives.

  • gloria

    How very special Gianna is to have a warm and loving aunt tina to love her, she is just darling Justine and I was by here yesterday and did't comment because this just touched my heart so much, we all get so caught up in every day life and things that really don't matter and then I see this special little angel that God has given to your family to care and love, this little Gianna just melted my heart.How special she is and how we all could learn to love like she does. How blessed you and your sister are. hugs and love to sweet Gianna.

  • Anonymous

    Good morning Justine, what a sad and touching story about beautiful little Gianna. Thanks for sharing
    Vicki

  • aimee

    I loved this post, Justine. You are such a wonderful auntie :)

  • JOYGEE

    Justine. I have read your blog and so far I see that you have a great potential for writing. Have you or have you ever thought about maybe writing a book.

    Sincerely,
    Joyce