On Tuesday, Baby Dee saw the Gentics Doctor and was diagnosed with CDLS...We have been digesting this diagnostic possibility and ruminating on all the possible scenarios for quite some time. We have had several weeks to wrap our heads around what it means knowing the baby has CdLS. We have a very astute friend who, upon meeting Baby Dee on day two of her placement with us, enthusiastically says "So has she gotten her diagnosis yet?" And when I looked at her with a puzzled expression, she smiled even wider, nodded her head and said. "Well...Cornelia De Lange Syndrome: like my Jennie (daughter)".
So, what is CdLS? According to the CdLS Foundation, CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.
As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.
Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.
The GREAT NEWS is she does not have all the issues listed above...She is actually quite a cute little baby and has an infectious smile and lopsided grin. To most of our readers, CdLS probaby sounds daunting. But can you believe we were HOPING this was the issue and PRAYING it wasn't Fetal Alcohol Syndrome...??? CdLS I we can manage - but FAS we CANNOT handle.
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congrats on getting a diagnosis!
ReplyDeletejust out of curiousity, what could you not have handled about FAS? CdLS sounds pretty challenging, too, especially with regard to the risks of eating issues, heart defects and developmental delays.
I am so glad for you and for Baby Dee that you actually have a dx. It helps for services obviously. And it sounds from your writings like she doesn't have some of the more serious or daunting aspects of the syndrome.
ReplyDeleteyeah we said we couldn't handle FAS either and yet appears as though we are, you could of too. Happy to hear that it is something that is not so tough though ( if that makes any sense). Have a great weekend!
ReplyDeletePS the migrane finally decided that with the tylenol 3 it was time to go.
So glad Baby Dee has a diagnosis. My experience has been that once I know the problem I can deal with it. Not knowing is harder. So glad it's not FAS too.
ReplyDeleteThe grace that you both show is a beautiful thing!
Hi. I found your blog through a Google Alert for CdLS. My son is 1 1/2 and also has CdLS. Welcome to the CdLS family. It can be a bit of a daunting diagnosis, but our children are such blessings that the medical literature cannot describe!
ReplyDeleteAnyhow, I wanted to let you know that there is a CdLS online support group if you have questions ( http://groups.yahoo.com/group/cdls-kids/ ) and there is a relatively large presence on blogs (although not all of us update all the time).
I know that the CdLS families would love to see some pictures if you are okay with posting them. I have links on my blog to many other CdLS families also.
Have a great weekend!!
Yay for not have FAS! Glad you two have a definitive "thing" to face and handle.
ReplyDeleteGlad the little lady finally for a diagnosis. Its amazing she was in and out of the hospital so many times, and never seen got a DX. Good luck!
ReplyDeleteaw, man! Heidi found you first! :)
ReplyDeleteWe CdLS families look out for each other. My Emma just turned 1 and was clinically diagnosed at birth and we had a blood test to confirm by the time she was 2 mo old.
Welcome! You sound like you have a wonderful family! I'm looking forward to getting to know you all better! I know when I first posted Emma's diagnosis on my blog I felt a little bit stalked at first (in a good way), but you'll find a hugely active internet community here! CdLS is a quirky little syndrome, I'm SO thankful for the support I've found online through friends I've never met.
Check out our blogs, there's also quite a community on Facebook as well. Drop by and let me know if you'd like to be added to my blogroll. There's some wonderful families out here, welcome to our family! :)