We had our every 6 month metabolic appointment today, but our metabolicist is on vacation. To TIBET? LOL So we saw a new metabolicist who we have never seen, but I instantly liked. I had written down two things before our appointment - cornelia de lange syndrome, and ethylmalonic encephalopathy. The first two things HE asked about? Those exact two! It was sooo weird. Emily's nurse just looked at me like WOAH. :)
So we are running the blood test for Ethylmalonic Encephalopathy first. She has a diagnosis of SCAD Deficiency, but it doesn't account for all of her issues. So there is definately something else, but no one knows what. We are testing for EE because her metabolic labs always point to it. The test is super expensive and only done at Baylor University, which is why we haven't done it yet. So I take her Monday morning for her routine metabolic labs, as well as blood for the EE test. It will take 3-4 weeks to get the results back. I am scared sh*tless about this one.
The second topic was Cornelia de Lange Syndrome. I have thought about this one for a long time, but I thought that ALL people with this syndrome have hand abnormalities. Evidently this isn't true! Most do, but not all. She fits SOOOO many of the characteristics of this syndrome, it's like reading a list of All About Emily. So if the EE test comes back normal, we will be running bloodwork to check for this. CdLS is definately a better diagnosis than the EE!
Do any of you have CdLS kiddos that do NOT have hand abnormalities? Are any of them as delayed as Emily is? She doesn't talk, she doesn't walk, she doesn't sign, she doesn't eat. Okay, so she doesn't even pee much on her own. ;)
Anyway, these are the two things we are looking at right now. Honestly, the EE fits her metabolic lab profiles to a T, which is worriesome. It's going to be a long 3-4 weeks of waiting for results!
We used to revel in the "new perfect" that was our life. Raising a beautiful girl with multiple special needs showed us that "perfect" is all in our minds. Emily's life was perfect. It was happy, it was brilliant. She was social, outgoing, silly, and ticklish. Now we are learning to get through life without our "Perfect Peanut" in it. This is most certainly NOT a new kind of perfect.
14 comments:
So the test for EE is a positive? Its not a guess, its an actual gene deformity that they can see? I saw that some other nuero stuff was mistaken for that. The agony of waiting, its so horrible!
I hate waiting. We'll be praying for you -- if even for peace during the next few weeks!
Waiting stinks. We have been there as have you I'm so sorry you have to wait wondering if she has this.
Emily and you all are in our prayers!
Sending you peace while you wait.
Wow! I have a friend with a boy who has CD, but he has the hand deformity. He does walk and he can talk, but is not really cognizant to carry on a conversation. I'll be interested to hear!!!
That is a long time to have to wait for the results! Hang in there.....praying for your peace of mind while you have to wait! Hugs!!!
Praying for your peace and strength as you wait for the test results. Waiting sucks!
Brady is severely delayed as you already know.He doesn't walk,talk,can't hold his head up,grasp,etc.A lot of kids don't talk.It also depends on if you have a mild form.I can get you touch with other parents if you want
Hi. My son has CdLS, and arm differences. However, only 25% of cases of CdLS have any arm or hand difference. There is a HUGE spectrum and some cases are so mild that the kids seem very typical. However, many kids have a curved pinky finger and the second and third toes may be slightly "webbed."
Also, it is not necessarily based on arm difference how delayed you are in whatever area. So there are a lot of factors and each kid is their own person.
There is a blood test that can find over 50% of the cases of CdLS. However, many cases are diagnosed clinically. The genetic experts are at the Children's Hospital of Philadelphia. Let me know if you need more info.
Hi,
My daughter with CdLS does not have hand abnormalities, other than her hands being very small. She is 5 years old and cannot walk, talk, sign, or eat. She is also autistic and doesn't really engage much with people (very little eye contact, for example). She used to drink formula from a bottle, but no longer can do that and is now fully G-tube fed.
Good luck with your journey to a diagnosis.
Angela
Wow! I have as my screensaver the quote you have in your header! I also have a son with CdLS. He is 22 years old and does not have hand abnormalities. His hands are very small, too. He functions at about the 24 to 36 month age developmentally. He can say a few words and he can sign. He only signs words, not sentences, but he can certainly let you know what he wants. He was diagnosed when he was 18 months old from a clinical standpoint. He has never had any of the blood tests, as they didn't have them when he was small. He can walk but has to be watched constantly. He is not potty trained. He eats like a pig! We have to monitor his eating because he would eat 24 hours a day if we would let him. He has severe reflux and has been diagnosed with Barrett's Esophagus. Your daughter is beautiful. I wish you luck in your journey of getting a diagnosis.
Rhonda
Hello, there! I see some of my friends have already found you! :) My Emma is 20 months old and was diagnosed with CdLS at birth. She also does not have the arm differences. She crawls, pulls to stand, cruises, and has some signs, but they come and go. Like several folks said, our kids write their own story! Check out my little Emma at http://www.watzspot.blogspot.com/
And please know that we all understand how hard this diagnosis journey is. Whether you get a CdLS diagnosis or not, there is a VERY strong internet presence of CdLS families out here, both in BlogLand and Facebook - we're here for you! Best of luck!
God bless,
Becky
You're in trouble now - the CdLS world has found you lol! There are SO many of us on facebook, and yes your daughter does sound a lot like our kiddos. My daughter, Ella Grace, is 2 years old with no limb differences but is still not sitting up unassisted or crawling. Also speech delayed - not making appropriate sounds but definitely verbal! The only lab that does the testing for the few genes that have been identified for CdLS is at the University of Chicago. My daughter has the rarer form (SMC1A) which accounts for a milder phenotype (physical features aren't as pronounced) but she still has the medical issues. Look us up if you're on facebook and good luck to you getting it all figured out. She is a doll!
Suzanne
Mom to Ella Grace
Hey there, sending positive thoughts your way. Thank you for visiting our web www.hopeforbrianna.blogspot.com are you guys CHOC in Orange or CHOC in Mission patients? I love meeting people who are having a journey similar to ours that live close by. Your daughter is beautiful, I am now a follower and am looking forward to learning more about your journey. Take Care.
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