All about Cornelia de Lange Syndrome CdLS Awareness day

本站添加: 2026-05-12

[00:00:01]Hi guys. Welcome back to my channel. I always have a lot of new faces around here. So, if you're new here, my name is Marcy. I have four kids and the youngest of whom is Freya. She has a rare syndrome called Cornelia de Lange syndrome and today is Cornelia de Lange syndrome awareness day. So, I'm going to do a little video talking about the common characteristics of CDLS and talk about when we saw those characteristics with Freya.

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[00:00:38]So, CDLS is a rare syndrome. It affects about 1 in 10,000 births, which seems like a lot, but if you think of Down syndrome, Down syndrome is 1 in every 700 births.

[00:00:54]So, it's a lot more rare than Down syndrome is. I had worked in medicine my entire career, specifically the 8 years before Freya was born, I worked in newborns and pediatrics. So, I saw a lot of syndromes and had never heard of Cornelia de Lange syndrome before. I think I'm going to go chronologically in Freya's life and what characteristics we saw just so I can keep things straight in my mind.

[00:01:21]So, the first thing we ever noticed with Freya was that she had a limb difference. At our anatomy ultrasound at 20 weeks, she showed us her little lucky arm immediately. The ultrasound tech put the ultrasound wand on my stomach and immediately was like, "Okay.

[00:01:44]Here's what I'm seeing. She is missing two fingers and also missing a bone in her forearm. This actually, it's called ulnar dysplasia and limb difference affects 25% of people with CDLS. So, while not every person with CDLS has a limb difference, a quarter of them do.

[00:02:05]I'd say the second thing we noticed, which was in the same ultrasound, was growth restriction. Freya was measuring about 10 days behind at that 20-week ultrasound, and my kids are big kids and usually are measuring well ahead. So, even though it was only 10 days behind, to me that seemed like a really big gap to where we usually were. And then as our pregnancy continued, it just got worse and worse.

[00:02:35]Freya grew very, very slowly and had a very hard time putting on any weight in utero and now in life in general, just struggles to put on weight. Prenatal and postnatal growth restriction is very common in CDLS and specifically in Freya's gene change.

[00:02:59]There are seven different genes that they classify when they are changed as CDLS.

[00:03:06]And Freya has the most common gene change, which is the NIPBL gene change.

[00:03:13]And our little NIPBL kids just are teeny, teeny, tiny and have a really hard time putting on any weight whatsoever. Freya is almost seven and is about the size of a 2-year-old. The next thing we noticed, I would say, is when she was born, we noticed all the physical characteristics. Now, the doctor noticed these. I had a hard time with this because all of these physical characteristics are also characteristics that run in my and my husband's family.

[00:03:48]So, you've got the arched eyebrows that are extra bushy and I mean clearly I've been blessed by the eyebrow gods and my husband has as well. You should see his eyebrows. They are just bushy and perfect and gorgeous.

[00:04:03]Long eyelashes, same thing. I have really long eyelashes. All my kids have had long eyelashes.

[00:04:10]That did not seem out of place for me.

[00:04:13]Thin lips. While my husband and I don't have thin lips, my mom's side of the family all the women on that line have very thin lips. And even with CDLS it says thin lips that are downturned like kind of into a scowl. That's my whole mom's side of the family.

[00:04:33]Just like constant scowl, thin lips. So that didn't seem off to me either.

[00:04:39]The only thing that did seem kind of odd was Freya was born with a lot of hair.

[00:04:45]None of my kids had any hair when they were born. Very sparse. And so for her to come out with a full head of hair was a little unusual for my family.

[00:04:58]I absolutely loved it though. Never having had a baby with a lot of hair, I styled it. I just had so much fun with it. The other characteristic is tiny hands and feet. Which when Freya was born she was only 4 lb.

[00:05:14]So I didn't feel like her hands were like extra teeny tiny hands and feet.

[00:05:20]Looking back now they totally were. I was just in denial.

[00:05:24]But I was like, yeah, she's a tiny baby.

[00:05:26]Of course her hands and feet are going to be teeny tiny. The next characteristic was definitely Freya's reflux.

[00:05:34]And reflux is a very common symptom of CDLS. Of all the people I know with CDLS, they struggle with reflux. I'd say darn near 100%. I don't know the exact numbers, but it's a struggle most people with CDLS have. This showed up with Freya actually in the NICU and I talked to the NICU doctor about it because my oldest child also had pretty severe reflux and I wanted to address it as soon as we could and he wanted to wait because most premature infants have some reflux because their bodies just aren't mature enough.

[00:06:13]And so we waited, but by the time we got home from the NICU, I just knew this was going to be an issue and this is when I think of Freya's baby years all I think of is reflux. I We had to feed her sitting up and then she had to sit up for like an hour after she ate and she could never be laid down flat.

[00:06:33]We could maybe get her to like a 30° angle, but if we laid her down flat everything came back up and just she was uncomfortable all the time, arching, gasping, gagging, just it was not good. We finally got it under control at about a year old and since then it kind of comes and goes. We'll have some good months and then we'll have some really bad months and it just kind of comes and goes. She's still on medication. She'll be on medication for reflux, I assume, her entire life.

[00:07:08]Developmental delays are a big part of CDLS and Freya honestly kept up pretty good up until about 6 months.

[00:07:17]She was rolling over on time, she was tracking things with her eyes, she was putting her own binky back in her mouth but sitting up is where things kind of started to slow down for Freya and then it just kept slowing down. Um I believe she was about 18 months old when she first learned how to sit up, which is very behind. She is almost 7, she does not walk, but she does cruise along furniture.

[00:07:45]Communication difficulties.

[00:07:48]Once we knew she had CDLS, we knew it was going to be an issue. And so immediately we started with sign language, and that has helped us. I was writing down today her signs to communicate with her speech therapist about what she knows.

[00:08:08]And having those signs, I think she knows about 10, has absolutely saved us in the communication department. She also has an AAC device, but right now she prefers sign, and we keep going on both and just let her pick and choose what she wants to do.

[00:08:29]I think probably feeding difficulty is next. Um she had an NG tube in the NICU, and then I think about until she was 3 months old. And at that point she was able to get most of her calories through a bottle, and so we started doing just by mouth feeding.

[00:08:53]We're always open to having a G-tube, which is the tube that goes straight into her stomach to help feed her.

[00:09:01]Currently, she doesn't need it. She might need it in the future to help get extra nutrition.

[00:09:06]Kids with CDLS need more calories than a kid their size, and so that kind of makes it difficult in conjunction with all their GI problems to get enough calories in them. Also, there are anatomical [clears throat] differences with the mouth, throat, kind of the whole digestive tract, which can make feeding difficult. And also, they can have aversions to any um sensory experience in their mouth or trauma from the NICU of being intubated or having an NG tube or an I think it's called an OG tube where it's in their mouth. So, there's a lot of things that go into the feeding difficulty, but Freya has been in feeding therapy since she was two, I believe. And that really has helped quite a bit. Next, I believe are seizures.

[00:10:04]I think it is either 15 or 20% of people with CDLS have epilepsy.

[00:10:09]Freya is one of those people. When she was almost like days before her fir- fourth birthday, we caught her first seizure.

[00:10:20]After she had seizures, I realized that she had been having them for a while and we just had never caught one.

[00:10:28]After her seizures, she is very angry um and screams and screams and screams and then is very lethargic after she gets done screaming. And witnessing that after her seizures, I was like, "Okay, this is what has been going on." because she would wake up in the middle of the night and do the same thing. And we just didn't see the seizure beforehand cuz it was the middle of the night. We were all sleeping.

[00:10:52]Since then, Freya's seizures have been more or less under control. We have had a couple breakthrough seizures, but her medication has really just been taking care of them and helping them, which is amazing.

[00:11:05]The last thing that we have noticed is behavioral issues.

[00:11:10]People with CDLS often have a lot of behavioral issues. And for Freya specifically, I feel like this stems from frustration of not being able to communicate and pain. Those are the two times we see the most uh behavioral issues.

[00:11:29]Uh harming herself, harming others, throwing things, being very angry.

[00:11:35]And honestly, I do not blame her. If I was in pain, and when I am in pain, I am grumpy. And if I could not communicate that that was the reason, 100% I would have the same issues. So, I get it.

[00:11:54]And I just want to end with the positive things that I see within the CDLS community and with all Freya's CDLS brothers and sisters. The first one is they are all very strong-willed, which if you have a strong-willed child, you know is a curse and a blessing at the same time.

[00:12:16]But, if Freya wants to do something, she will figure out a way to do it, which has worked wonderfully in our in our experience. It also is frustrating when she wants to do something that she cannot do and wants to do.

[00:12:38]The next thing is just how amazing our community is. I know everyone that's part of a rare syndrome community feels the same way, but just the way we support each other and are there for each other and are there to answer questions. My doctor will always say like, "What do they say on the mom group for CDLS? Like, can you ask them what we do about this?" Because no one knows better than the person who has lived it before you.

[00:13:08]And I'm just so so grateful for that community. I've made lifelong friends there and I love it so much.

[00:13:16]Okay, I was editing this video and while watching it seemed like a little downer.

[00:13:21]So, if you are just getting a CDLS diagnosis, just know Freya is one of best things to ever happen to me in my life. She loves living life. She lives life to the fullest and she has a full and complete life.

[00:13:39]She is amazing and happy and wild and fits in perfectly with our family and we love her so much.

[00:13:49]Thank you for listening to my CDLS Awareness Day video and I hope you learned something new or at least enjoyed the videos of Freya. Thanks as always for being here and I hope you'll come and see what we're up to next time.

[00:14:02]We'll see you.