Friday, April 13, 2012

what is CdLS?

First of all... Wow. Thank you all so much for your kind words and support yesterday! Each message and email really mean the world to me... It's been on my heart for awhile to share this, but for various reasons I've held back. Today I want to answer the question "what is CdLS?" This blog won't just be about Ella and CdLS, but I think some of you might be a little curious about what it is...

There's an amazing website www.cdlsusa.org with a ton of great info. They also have a wonderful foundation with someone always there to listen to you, answer questions, and find other people in your area to connect with. (Unfortunately for us the closest family to us is by Omaha) They have been really helpful to us as we enter this journey.

Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. CdLS does not discriminate—it’s seen in all races and ethnic backgrounds. The occurrence of CdLS is estimated to be 1 in 10,000 live births. (I copied that straight from the website)

As with many other syndromes, individuals with CdLS strongly resemble one another. Typical facial features include thin eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips.

Other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Other features may include excessive body hair and small hands and feet. Common medical issues include gastro- esophageal reflux disease, heart defects, seizures, feeding difficulties, vision problems, and hearing loss. Limb differences, including missing arms, forearms or fingers, are seen in about 25 percent of individuals with CdLS. Behavioral and communication issues and developmental delays often exist. (Ok.. I copied those last 2 paragraphs too...)

Time to stop plagiarizing... What does this mean for Ella? Well, like I said in my last post, we don't know for sure... But the characteristics she does have are:

   1. Small stature. She is 15 months old and weighs about 18 1/2 lbs. My boys weighed that at 6 months. That being said... There is a special growth chart for CdLS kids and she is at the top! She actually even measures in the typical chart-a proud member of the 2nd percentile club! I don't think she's on the typical chart for height, but hey--I barely am... :)

   2. GERD (gastro- esophageal reflux disease) She has some reflux issues that are being pretty controlled by Prevacid. They are not as severe as a lot of kids-no surgeries or g-tubes. No scary choking and gagging episodes, but she sure is a gassy girl!!! She is eating mostly table foods, but we are still careful to give her small, soft bites. She's also a little sensitive to different tastes in her milk.. We've tried switching from her nasty Nutramigen formula to Pediasure and Whole Milk, but she refuses both. Ugh!!

   3. Heart Defect. I addressed that in the last blog, so I won't say much. But she does have a bicusped aortic valve that we get to look at every year as a birthday present to her. (Ella-you can thank us later... It's probably better than going to Chuck E. Cheese)

   4. Vision Problems. We see an opthomologist every 6 months to monitor her vision, but so far everything looks great! She does have a slight ptosis (droopy eyelids) but it is not affecting her vision. If the ptosis isn't affecting her vision, they like to wait until the child is around 4 years old to do surgery to correct it. I get a LOT of "Ohhhh.. she looks so sleepy" And that's ok. It gets old, but it's ok. Really.

   5. Hearing. Ella hasn't passed a hearing test. But I know without a doubt that she can hear. Very well. She startles easily, responds to her name, and gets VERY upset when one of her brothers is crying. (She is a very compassionate soul!) We continue to monitor it and are thinking about looking into tubes. The problem with a lot of CdLS kids is that their ear drums are so little they can't even get tubes in them.. One more thing we get to learn about her!

   6. Developmental Delays. This is a tough one. Before she got sick with salmonella poisoning she was pretty much right on track. She rolled both ways at appropriate times, smiled, laughed, and was SO close to sitting up when she got sick. Obviously that set her behind. (Heck-if that would have been me with the salmonella poisoning I STILL would be flat on my back...) It's hard to know where she would be without that illness, but I guess it doesn't matter. In the last few weeks she has started clapping, waving (even waving when I merely said the words 'bye-bye'--BIG step!) and.... *drumroll.... the other day she started army crawling!! She has been SO close for months now, but she finally just took off one day. Of course me being the extreme procrastinator that I am, looked around in a frenzied panic as to what I all needed to pick up and baby proof. As if I didn't have an extended 15 months to do that....

   7. Microcephaly (Small Head Size) This is perhaps the one that scares me the most. It means that her brain probably isn't as developed as it should be. That being said there ARE cases of people with microcephaly that have normal intelligence. When she has first diagnosed and the Dr. was telling us these things, instead of hearing that my daughter's brain is underdeveloped, I heard "Wow, Maria. You are so fortunate! Ella is most definitely one of the rare cases of people with normal intelligence and will positively be able to live a "normal" life." I'm not sure how that message changed so much in translation... Call it hope. Call if faith. Call it plain ol' flat out denial. Whatever it is, I clung to it. But that being said--no matter what happens or how "developed" her brain in we will love and cherish every second we have with her.

I think that's about it for characteristics... But another thing I'd like to address quick is what causes CdLS. From what I understand... nothing. It's just one of those things that happens. It wasn't heredity in that one of us carries the gene and we have a very slim chance of having another baby with CdLS.

I wanted to talk about this because... maybe I need to hear it myself. I've spent months agonizing over what I did during my pregnancy to cause this. I went over every detail. "Did I drink too much caffeine?" " Eat too many buttered noodles and not enough fruits and veggies--Hey! I was SICK!" "Use too much mod podge???" Yes, I googled mod podge in pregnancy... I've analyzed everything I ate, my emotional state, activity level, tested our water..

It's hard to accept that there was nothing I could have done differently There is still a certain amount of guilt I deal with. But I know I need to have faith that Ella is exactly the way God planned her to be. And I am so thankful for her. Just the way she is.





4 comments:

  1. Maria, my heart grieves for for the emotional turmoil and isolation that you've been through these last several months. I am so glad that you've broken through that to write this blog. My prayer is that you will not only feel, but see, the love and support that abounds for you and your family. I know you'll have your up days and your down days in the years to come, I pray that you'll continue to reach out to those whom you know love you and your family so that we can shower you and your family with unceasing love and support.

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  2. Maria, thanks so much for sharing about Ella and CdLS. So looking forward to getting to know her better through your blog. Your family and you are so special, and your right Ella is just as God planned and may we be open and if not surprised to what all His plans are. Love you <3

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  3. She's darling. Thanks for sharing. You sound the positive, upbeat, spiritual mother that she needs. Found you on the mommy mixer

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  4. Maria, thanks so much for sharing about Ella. You are such a brave mom. My son also got the same diagnosis (on the milder side) and has Reflux and microcephaly. We are still struggling to cope with the diagnosis and don't know what to expect. I'd like to ask how Ella is doing and if you can answer any questions. I really appreciate your time.

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