Tag Archives: Cornelia de Lange Syndrome

Today is Cornelia de Lange Syndrome Awareness Day!

Today is Cornelia de Lange Syndrome Awareness Day! There are many children who have CdLS but either lack a proper diagnosis or do not realize support and information exists. Though we strive to reach these people and their families every day of the year, today is the day we make extra special efforts to spread information about CdLS to everyone who may know a person with this syndrome. Please take a moment to learn a little about CdLS today and perhaps help us find one child who needs information and support.

For more information on CdLS, please visit The CdLS Foundation website. Baylee was born 13 years ago, just as the internet was becoming mainstream. Due to the combination of a pediatrician who was also a pediatric geneticist and the fact that we were early adopters of the internet, we were very fortunate to have found the Foundation with days of Baylee’s birth. Other families aren’t so lucky, even in 2009. Mild cases of CdLS are most often missed by doctors and other professionals, and in many cases, regardless of the severity of the case of CdLS, misinformation is often given to families (including ours) which is probably the greatest tragedy of all. One of goals of the CdLS Foundation is to make sure accurate information is available to all families from the moment of birth and throughout the life of the person with CdLS.

This year the Foundation has a goal to raise $1000 in honor of CdLS Awareness Day. At the time of this posting, $930 is still needed toward this goal. If you’d like to help us reach our goal and help people with CdLS like Baylee, please visit:

CdLS Foundation, Inc.

Your contribution is tax deductible. Any contribution you can make is deeply appreciated.

CdLS Gathering, March 2009

CdLS Gathering, March 2009

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25 Random Things About My Child with CdLS

Stealing this idea from Facebook, the CdLS-KIDS Blog Challenge this week is to write 25 random things about our child with Cornelia de Lange Syndrome.

1. My child with CdLS is Baylee, and she is 12 years-old.
2. She was diagnosed within a few hours of her birth.
3. Baylee loves to eat…and eat….and eat.
4. She’s a skinny little thing. I don’t know where she packs it.
5. Baylee loves swimming and taking baths.
6. During the summer she lives to go to the neighborhood pool.
7. Baylee usually wets her pants at least once a day.
8. Baylee has killed several iPods.
9. Baylee loves to watch the movie “Lady and the Tramp”.
10. She loves baby dolls and always has one with her at all times except when she’s in school.
11. Her baby doll must go up on the highest shelf in the laundry room every day before she gets on the bus for school.
12. Baylee loves shredded cheese and spreads it everywhere in our house.
13. Baylee loves her grandparents and gets really excited when they visit.
14. Baylee must have her TV on all night.
15. Before she walks out the door to the bus in the morning, she has to run in the kitchen and ritualistically clack her heals together (think “There’s no place like home, there’s no place like home) against the dishwasher before she leaves.
16. Baylee hates to have her hair combed.
17. Baylee flooded our basement once.
18. Baylee has walked on our roof.
19. Baylee has climbed a six foot fence and escaped our yard on her 8th birthday. She was found four blocks away and she crossed a 4 lane road to get there.
20. Baylee thinks she is the funniest person she knows (we think she’s pretty funny, too).
21. Baylee hates shoes.
22. Baylee hates hugs! But she will give you one if she wants something from you and you tell her you’ll do it for her if she gives you a hug.
23. Baylee knows some sign language.
24. Baylee loves tortilla chips and hot salsa…the hotter the better.
25. Baylee is very empathetic and acutely feels other people’s joys and pains.

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CdLS Blog Challenge

This week’s blog challenge:

What kind of jerry-rigging or child-proofing have you done at home to meet the needs of your child with CdLS? This could be for tube-feeding or any other medical needs, or any other kinds of modifications you have made. Add pictures, if you can.

We have made many “home modifications” to accommodate our “adventures” with Baylee! However, I’d like to add the disclaimer that as she has matured, we’ve been able to relax many of our Baylee-proofing measures.

I think the best thing that has brought peace to our home is keypad locks. We have always needed to keep Baylee out of certain areas of our home to prevent expensive damage that Baylee likes to inflict on our home. Due to her obsession with running water and bathing, we need to keep her out of the bathrooms that have showers or bathtubs, so we first tried key locks. Unfortunately, the keys were always disappearing and were never handy when we had to get into a bathroom! We then resorted to keypad locks which require a code to be punched in to open a lock. They work great! The downside is that they are very expensive–usually $80 to $100 each. When she was younger we felt that we might need one on every door in the house, but now that she’s older she seems to be better behaved. We currently have two keypad locks in service–one on our laundry room door that keeps her from fulfilling her obsession to mess with our washer and dryer (they are too expensive to let her break them!), and another on the door to our utility room in the basement. She once flooded our entire basement by turning on the faucet on the utility sink, and she also likes to turn off our furnace and water heater. It’s no fun to wake up to a 45 degree house on a January morning and find you have no hot water either!

We have also had to chain our windows on our second story so that they would not open all the way. One day a neighbor knocked at my door and told me Baylee was walking around on our roof. Much to my horror, she had crawled out her bedroom window and was walking all over the roof. Grandpa came and chained all the crank out windows so that they wouldn’t open enough for her to squeeze out.

We have since gotten new windows and now it seems she is terrified of heights. We got them in July, and she hasn’t even removed a screen. We also splurged on getting the blinds between the glass in every window in the house. We could never keep curtains in her room because she always tore them down, and she always “slimed” our roller shades with her grimy hands. Now I have somewhat attractive windows, though they usually have smudges on them as Baylee can’t resist leaving her mark on the windows. At least glass is easy to clean.

Baylee has traditionally been a fair-weather wanderer, though she has grown lazy in her “old age”, and does it far less. This time of year we don’t have worry about her escaping the house and going on a “walk”, but during the warm weather months it’s sometimes an issue. We have the front doors chain locked when she is home and she does have free access to the backyard which has a six foot fence (which btw she could climb when she was smaller and more agile). We keep the gates locked with a padlock to keep her brothers and neighborhood kids from leaving them open and giving Baylee and escape route.

Though we have retired most of our cabinet locks, the very best locks and the ONLY ones Baylee could not defeat were “tot locks”. They are magnetic and require a magnetic key to open the lock. They are fool proof. But don’t lose the key or you are screwed. Thankfully spare keys can be purchased separately from the locks. I think I have at least 5 tot lock keys now.

We also had to replace the glass in her dresser mirror with plexi-glass when she ripped the mirror off and broke the glass everywhere. Thanks Grandpa!

Lastly, we have a faucet lock on our spigot in the backyard. It was not something we could find locally because we don’t have water restrictions here so I ordered it from the internet. Traditionally these locks would be used to keep people from stealing your water, but we use it because Baylee would run the water constantly when she’s in the backyard. I was sick and tired of running out to shut off the water. She was killing my flowers and spraying the hose into our sunroom, so we took care of that annoying little behavior. Sorry Baylee. Yes, during the summer we do allow her a reasonable amount of “water play”, but since we aren’t independently wealthy we need to keep our water bill in check!

Today we have a rare 60 degree day in January in Nebraska. Baylee’s going outside, as my mom used to say, “to blow off some stink”.

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CdLS Blog Challenge–Gifts for our kids with special needs

Gift giving season is here! Kids with CdLS can be challenging to buy gifts for. What gifts has your child received in the past that he or she has enjoyed, and what do you think you’re child will want/need this season?

Baylee has always been difficult to buy for. Baby dolls always prove to be a well loved gift for Baylee, but if she has too many they get to be a nuisance. Baylee always throws her babies and stuffed animals over our backyard fence into the neighbors’ yards. Some days I can look out a window on our second story and see the neighbors’ yards littered with baby dolls and stuffed rabbits. Once the toys are over the fence she frets and obsesses over the fact that they are over there and out of her reach. Then why, OH WHY, did you throw them over in the first place? It never ends. So we limit the amount of “babies” Baylee can have for our own sanity.

Last year’s Christmas “baby” is still her favorite, though unfortunately it looks like the Bride of Chuckie these days.

bride_chucky-sideshow_15-l

I’m sure a new baby will be on Santa’s list. Also, curiously, she is stressing about Santa this year for the first time. She obviously has some understanding that Santa comes to our house and brings presents. She is currently obsessing about the “Ho-Ho-Ho” (her verbal expression for the word “Santa”).

The only other thing on her list besides new clothing will be a new iPod Shuffle. She mysteriously broke her last one. It seemed intact and dry, but it was dead. I haven’t a clue what she did to it. Thankfully they aren’t expensive, and I’ll be buying a refurbished one from the Apple webstore. If it lasts 6 months, I guess it will be a bargain in Baylee-terms.

Our Christmas this year is going to be very sparse and sensible. We are very blessed to have all we need, and with the recession and skyrocketing taxes sure to come, we know it’s best to keep money in the bank. It’s time to celebrate Christmas for what it truly means and take the materialism out of it.

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Endoscopy

Baylee had an endoscopy procedure today. Reflux is probably the most common problem with Cornelia de Lange Syndrome, and Baylee seems to be one of the lucky ones. She takes Prevacid which seems to keep her symptoms under good control. She had her last endoscopy in August of 2007, and we usually don’t do another for 2 years. However, she’s been gagging lately and has even vomited with the gagging, so her GI specialist thought it would be a good idea to check if there was any damage even though we suspected it might be behavioral.

Her esophagus and stomach looked great, so that’s good news!

Figuring out why she’s gagging herself is another matter. I tend to think it’s stress related, though sometimes that stress seems to occur for her when she doesn’t get her way. Other times it seems to be related to routine disruption. She likes her routine and has a lot of anxiety when she’s in an unfamiliar situation.

In any case, back to the drawing board.

Baylee did great at the hospital, and except for a meltdown when it was time for her to go to the surgical room, she was a model patient.

Baylee is pigging out now and is a happy camper. She couldn’t eat after 6 pm last night, so she’s making up for lost meals now. She had a macaroni and cheese dinner at Hy-Vee for lunch….now she’s inhaling microwave burritos. She wants another one….off to appease my little piglet.

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Special Exposure/Wordless Wednesday!

5 Minutes for Special Needs

Baylee & Colton

Halloween 2008: Baylee & Colton

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CdLS-KIDS Blog Challenge: What’s on your iPod?

I’ve been slacking lately and neglecting my blog.  Things have been crazy at DH’s new Hy-Vee and he is working me to death.   He thinks I’m superwoman or something.  Anyway, since I sleep with the boss, I told him that he needs to work me less….the late nights are killing me.  I can’t seem to get the old “paper route schedule” out of my biological clock.  I think if I didn’t keep waking up at 3:45 am every day, I wouldn’t be so tired.  Who would have thunk I’d still be feeling the effects of the paper route days six months later?

Anyhoo….to the blog challenge.  I have a few minutes before I have to go to work.

This week’s blog challenge:

If you are an iTunes fan, you are probably familiar with their “Celebrity Play Lists” where celebrities tell us what is on their iPods.

Since we are all “celebrities” here on this list, this week’s blog challenge is to blog about what is on YOUR playlist. To keep things simple, just list your top 10 favorite songs or most played songs at this moment in time that are on you iPod/mp3 player/cd player. You can just list them, or you can also elaborate on what appeals to you about that particular song.

Extra credit–music seems to be something most of our kids with CdLS enjoy. What songs, artists or kinds of music does your child with CdLS enjoy most? What role does music play in his or her life?

I love my iPod and iTunes, but I mostly listen to my iPod when I run.  Unfortunately, I haven’t run since the new store opened.  I’m just too beat in the morning.

I love all kinds of music.  You’ll find everything from hard classic rock to pop to bluegrass to classical on my iPod.  However, country music is my first love, and you’ll find that gets the most airplay on my playlists.  I’m anxiously awaiting AC/DC’s new album this week, too.  I’m also digging the new Sugarland song, though I haven’t had a spare moment to download it from iTunes.

As for Baylee, like many kids with CdLS, she loves music.  She has an iPod Shuffle (the clip on one in green), and she loves it.  Unfortunately, it went AWOL this week.  I cannot find it anywhere and she’s been “asking” for it everyday.  She points to both her ears to “ask” for her iPod.  Sorry Baylee, I cannot find it!  She doesn’t seem to know where it went either.  She’s historically been an iPod killer, and has thrown a few in the bathtub or the sink, but for the past year she’s been much nicer to this iPod which she got last Christmas.  If we don’t find this iPod soon, it looks like she’ll probably get another one for Xmas.  Good thing the price has gone down and the storage has gone up.  She doesn’t seem to have a preference for any particular type of music, but I have the Happy Feet soundtrack and several Veggie Tales songs on her iPod, plus many of my favorite country tunes.  Seems to work for her.  She also likes the Cotton Eye Joe song and will attempt to do the dance for it.  However, she cannot listen to a song in its entirety.  She presses the next song button during every song.  Good thing iPods are durable.  I also have to use parental controls set the volume on her iPod to a lower level….she blasts it as loud as she can if I don’t.  Guess she gets that habit from me….I like my music loud.

I have found the iPod is a great calming mechanism for her as she can be very excitable.  If I don’t find her iPod in the next couple of days, I may have to get her an early Christmas present just for my own sanity.

ETA:  The iPod was found!  Baylee is a happy camper.  And so is mom.

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