Life on the EDGE

Another Quick One

2008-10-03T22:43:00.002-04:00

Hi everyone,

Delinquent am I, I know. Carriella will be entering the school system in a little bit more than a month. She's still not talking, although she sure does scream a lot. I have noticed that she has been crying more and more after songs end. She has been doing that on and off since she was little but it has gotten a lot worse. Is this anxiety? I just don't know.

It's getting harder and harder for me to talk about her issues. I know we've been so fortunate with her health, but I'm just not satisfied. It's hard to see my friends with typical little girls her age. I hate to say it. I should just erase it, but I won't because I can not deny these feelings. What did she do to deserve this??? This is why I haven't been blogging. And I will post this. Because it's real. And I think I'm in denial 99% of the time.

This sucks.

Just a Quick Update

2008-08-16T00:07:00.002-04:00

Hi everyone. I hope you are all doing well. The last few months have been terribly busy both personally and professionally.

I came out here to update my blog, which I've neglected for nearly three months. When I read what I last wrote, my heart started to break. It's a total coincidence, but I just learned that my dear friend I mentioned in my last post is going through a terribly difficult time. She's 21 weeks along and just found out that her baby has Trisomy18, which has an impossibly high mortality rate. She and her husband are devastated. If you have room for a special prayer, please keep them in mind.

On a much happier note, Carriella is doing very well. Music therapy and a gluten-free, dairy-free diet seem to be working well for her. I will be going on vacation next week (New Hampshire) and will be able to update more in-depth. In the meantime, I thought I'd share with you pictures of what I like to call "High Heel Therapy"...

... "Boot Therapy"

...and "Sneaker Therapy"

Imelda Marcos, watch out!

Take care of yourselves and I will post more next week.

Hope Comes in Small Packages

2008-05-17T16:53:00.003-04:00

I know, I know. I've been delinquent. And even now I only have time to write a short entry. I've been avoiding posting because I've been down in the dumps for awhile...

So I'm writing to share the best news I've had in about a month. One of my best--and oldest--friends is pregnant! After lots of heartache--not to mention the endless poking, prodding, drugs, testing, etc.--she got pregnant...the good old-fashioned way! She lost her mom last month very suddenly and unexpectedly, so it's also bittersweet for her. It's kind of corny to think of it as the circle of life, but I can't help it... I know "Mom" (as I called her) is dancing in heaven and will find a way to be there for her daughter, son-in-law and grandchild.

Here's to hope and the beauty of new life...

Heart Healthy

2008-04-02T21:26:00.005-04:00

Today Gene and I took Carriella to her first doctor appointment since her diagnosis. She went to see her cardiologist, Dr. Berning. Since she was born with a murmur, 3 VSDs and a pulmonary stenosis, he followed her for the first 8 months of her life. Everything healed and sealed, and without the Williams' dx, we were set free. So, it was nerve-wracking going back after spending the last year and a half thinking she was "healthy." Thankfully, we got good news: her heart appears to be "normal," i.e., healthy. They were unable to read her BP (wiggly worm), but the EKG and ultrasound were normal. Normal. Healthy. Those are GOOD WORDS.

Next on the medical agenda will be a consult with her pediatrician. After that, I would imagine that hearing and vision tests would be important. On the therapy side, we only have 7 months left in Birth to Three, then it's on to the public school system. Her PT was just cut back to 2x/month, since she is now mobile and functioning well indoors and outdoors. I've been told that Birth to Three is about teaching caregivers how to use therapies in everyday routines. "Medical" physical therapy--for joint health or prevention of joint stiffness--is NOT covered by the program. Boy I can't wait to fight THAT battle with my insurance company if the time ever comes. Let me stop there before I go off on a rant... because today was a GOOD DAY!

I worked from home today since I had to take Carriella to the doctor. It was a nice treat to be away from the often hectic office environment. I love my job, but the pace is often overwhelming. It was nice not to have to commute. At home, I was able to focus and just get work done. A GOOD DAY!

I wish GOOD things for all of you.

Please let me in?

2008-03-31T22:11:00.003-04:00

I'm so sad I can no longer access Ava Jewel or Avery's blogs, so I'm posting this to let Anna and Amy know that I miss reading your updates. Please, wontcha let me in?

Edna :-)

Something Different

2008-03-27T22:12:00.008-04:00

I arrived home later than normal last night at the end of a three-day long training stint, during which Gene dropped off the kids in the morning, picked them up in the evening, and fed them dinner. When I got home, the kids were eating dinner. I looked at Carriella and she just looked different. Bright eyes, very alert. I don't know what it was exactly, but I just didn't see WS. I guess sometimes I don't expect to see it and when I do, it floors me. Other times I fully expect to see it--and by "it" I mean the puffy eyes, blank stare, open mouth, etc.--and I don't see it anywhere. It's just weird.

Last week was a crazy week. Work was NUTS, but then again, it's never not NUTS so I guess it was just normal... It was also my birthday (29...AGAIN!!) on Wednesday, Good Friday (which my company actually observes!) and Easter. Pure chaos. Fun, but chaotic nonetheless.

Next week we have an appointment with the cardiologist so we can have Carriella re-followed. That's not even a word. But we're going back to the doctor who followed her in her infancy re: the VSDs and PS. I'm nervous. I'm usually cautiously optimistic but I was blindsided by the WS dx and I don't know if I can take that kind of crushing disappointment again. Too much optimism, not enough caution. Please don't take that the wrong way--i's just another less eloquent way of saying what the Articulate Dad said (click to read on Tara's blog).

I'm tired and my 29 AGAIN year-old body has had it. Need to snooze. But can't leave without posting a few new pics.

Be well, everyone. You're all in my thoughts.

Stealing Mommy's Birthday cheesecake

Christian and his trains

Prodigy?

Having fun avoiding the camera

Speedskater?

WS? Or just typical?

2008-03-15T15:00:00.010-04:00

Up until last week, Carriella was a great little eater. Even when she had reflux as a young baby and had her texture issues, she always loved to eat what she could, as long as she was feeling ok. All of a sudden, she's just not eating as well. I'm not sure if she's coming down with something OR if this is the onset of typical 2-year old pickiness OR if she has hypercalcemia and her tummy just bothers her.

She was never tested for hypercalcemia because when we tried to draw blood from her last year to do a CBC we couldn't get a vein (yes, that was the SECOND worst day ever). Over the last two weeks, she's had several loose BMs with no indication that she's not feeling well. The tough part is that our pediatrician doesn't want to bring her into the office until next month because there is so much illness going around. He doesn't seem to be worried about waiting to getting to the bottom of some of this "stuff," but should I be??

She's also not sleeping as well as she used to. She's not napping consistently (she's yelling up in her crib right now!). At night she usually doesn't fall asleep until 9:30 or 10, no matter when we put her down. The puffiness under her eyes is becoming more pronounced. Her facial features seem to be changing as well. Is it my imagination? The research says the WS features become more evident between ages 3 and 4. She's 2 1/3.

Maybe this is all just part of the adjustment phase. It's just frustrating not knowing. Not knowing what's WS and what's typical.

Anyway...on a more positive note, last week we met with a music therapist and we really liked her. We're going to add this to Carriella's therapeutic regimen. Have any of you tried it with your children? I tend to think it's a no-brainer because she absolutely LOVES music, but I'd love to know what your experiences have been.

I'll end this post with a couple of pictures...to keep things on that positive note! :-)

Be well, everyone!

Prayers

2008-03-11T19:55:00.004-04:00

I'm praying. Praying for my friends and family members who are having trouble conceiving. In vitro, IUI, hormone therapy ... Some are just trying to start their families while others are trying to grow theirs. It's heartbreaking, yet encouraging. Encouraging because I know these special people would accept and adore the children God gave them, if they were so blessed. You know who you are ... and I love you all!

I'm also praying for those who have lost children. Through illness, miscarriage, accidents... my heart goes out to you. I'm not exactly what anyone would call a religious person, but I know I'm blessed. We all are. Those of us who have. Those of us who are trying to have. Those of us who have lost. Those of us who may be mourning the future we thought our children were going to have. We're all vessels of hope. And love. Stay strong.

A Very Special Christmas Gift

2008-03-06T20:09:00.007-05:00

I wanted to share this movie my husband made me for Christmas. It does a great job of capturing some special moments since the birth of our children... and a few from the 9 1/2 years we spent together before they arrived! While I can stay dry-eyed when I watch it now, it was a tear-jerker the first few times!

A good day...

2008-03-04T21:36:00.006-05:00

I've been trying to catch up on the blogs of the other families, but I am way behind. I'm trying to get to know all of you--I'm always eager to read your stories and see the pictures of your beautiful children, if only for a few stolen minutes in the late evening after the kids go to bed. Like everything worth having, I know it will take time. I just want to thank you all for sharing your lives! You bring me comfort and for that I will be forever grateful. I hope I can return the favor over time.

Today was one of those days that Carriella was just too cute for words and I actually forgot about her diagnosis...for a while. I took some pictures tonight while she was covered in marinara sauce and having a great time tormenting me with the stairs. She loves them, but she gets easily distracted and often turns around when she should be looking straight ahead. Also, she's so tiny she just can't handle them...but it doesn't stop her from trying!

Question: I am concerned about Carriella's depth perception and her sensitivity (or lack thereof) to temperature. I know both things can occur outside of WS, but was wondering if any of your children have issues with either?

Christian wants to know what I'm doing and I owe him a song, so I'd better run! We think he's catching on to our moods and conversations, even though we try to be discreet. I'm so worried about him. He wants to sleep with us every night and he's having bad dreams. Poor little guy...

Thank you!

2008-02-27T18:14:00.006-05:00

I just wanted to say a quick, but heartfelt, thanks to all of you who have posted your comments! I'm already "feeling the love" and I know I made the right decision in starting this blog! I just got home from work. It's just Christian and me for a bit while Gene takes Carriella to her cranial-sacral therapy session with our chiropractor. We're not sure if we're going to continue with this, but we've been doing it for about 16 months or so and every time we take her she seems to have a developmental breakthrough either on the same day or within 48 hours!! I'd love to know if any of you have tried this "alternative" therapy with your children or if you've heard about any contraindications.

Last month I had to travel to Paris on business. I snapped this photo before I left, right before Gene brought them to day care. I put it on my blackberry and looked at it every time I felt home sick... which was quite often!

Rewind...and Fast Forward

2008-02-24T12:54:00.001-05:00

Hi. My name is Edna and I live in Connecticut. My husband Gene and I have been married since 1997. We have two beautiful children. Our son Christian is 4 years old (DOB 4/20/03) and our daughter Carriella is 2 (DOB 11/11/2005).

This was my original attempt at starting a blog back in October of 2006:

Blog...schmog

I am now testing this blogging thing. So much hype...is it deserving of so much attention? Or is this just another connector that will eventually drive us apart, like cell phones and Blackberrys and e-mail and the like; those techno-gadgets that interrupt our thoughts, our conversations our meaningful face-to-face interactions...Such cynicism, I know. I am a communicator who should be embracing such technologies, and trust me, I am as addicted to my "Crackberry" as any other corporate cog out there. Perhaps that is the very source of my cynicism--perhaps I long for a day of good conversation that isn't peppered with e-mails, phone calls, IMs, etc.

Well.......let's see where this takes us.

For perspective, I thought I should keep it. I wrote the passage above after attending a communications seminar in NYC. I didn't have much time to devote to the blog. I was experimenting with it from a communicator's perspective; to better understand the inner workings of the bloggosphere and how I might leverage this emerging communication tool for my company. Life at work went down the toilet, so I abandoned ship.

At the time, I was so focused on my job and the not-so-pleasant situation there that my blog--had I pursued it at the time--would have likely focused on the art of communication, punctuated by the obligatory angry comments about corporate politics, discrimination and waste of human potential that consumed my thoughts...at the time.

At the time, we didn't know why our 11-month old daughter was so far behind developmentally, why she was such a peanut, why she had reflux, why it had taken her 3 months to smile, 8 months to sleep through the night, 9 months to sit up... We were hoping she'd just catch up in her own time. I mean, she was only 4 lbs 15 oz when she was born. Her skin hung off of her like a Shar Pei puppy. She had IUGR--I mean OF COURSE it would take time for her to catch up, right??

Carriella started in CT's Birth-to-Three program at 13 1/2 months. She had some feeding issues--couldn't stand textures and choked horribly anytime we tried to introduce anything that wasn't smooth as silk. She has a physical therapist, a speech therapist, a developmental therapist and a developmental associate--giving her a total of 5 hours of therapy/week.

She had a normal EEG and MRI last summer, indicating no neurological issues. So when the neurologist recommended genetic testing, my husband and I were like "Huh??" He explained that there are lots of genetic syndromes that can not be diagnosed by any of the tests that had been done. So we went ahead and scheduled an appointment at UCONN with Dr. Greenstein. On February 7, we had the evaluation and blood tests. Upon evaluation, Dr. Greenstein mentioned Williams and velocardiofacial syndromes. We avoided looking either of them up; we'd wait for the results. On Valentine's Day (less than 2 weeks ago) we learned that our precious little girl has Williams Syndrome.

Well, it has been about 16 months since my first attempt at blogging. The catalyst for this second attempt was Carriella's recent diagnosis. We hope that this blog will:

Provide timely updates for friends and family
Be a resource of "Insider Information," where families can share their vast experiences with and knowledge about WS with each other-- to supplement what we read and what our doctors tell us
Continue to drive awareness about WS--who knows what ideas we might generate together?
Serve as much needed therapy for me (self-serving, yes, but so what? God knows we all need an outlet. :-))

Thanks for your time--I look forward to hearing from all of you! I will do my best to keep this blog up. Pictures to come!