Unexpected Diagnoses: DiGeorge (22q11.2 deletion) Syndrome in the Lawrence Family

What would you do if you suddenly discovered that multiple members of your family were living with an intricate genetic condition? Join us for a heartfelt conversation with Regina Lawrence as she opens up about her family's journey with DiGeorge syndrome (a.k.a. 22q11.2 deletion syndrome). From the moment they learned about Aubrey's diagnosis in utero, to the immediate surgeries that followed her birth, Regina shares the raw, emotional experiences of navigating multiple complex medical needs. Dive into the Lawrence family's world, where resilience is not just a necessity but a way of life.

Listen as Regina recounts the unexpected revelation of her husband's diagnosis at age 35 and the impact it had on their family dynamics. Discover how the Lawrences juggle specialized medical care, feeding challenges, and the critical role of American Sign Language and communication tablets in Aubrey's day-to-day life. Learn about Tina, Aubrey's sister, and the family's experiences at Boston Children's Hospital. Regina's advocacy work within the CHD community also offers a passionate perspective on why genetic testing is paramount. This episode promises to leave you with a profound understanding of DiGeorge syndrome and the unbreakable spirit of a family united in their fight.

Link to The CHC Podcast: Congenital Heart Conversations: https://tinyurl.com/CHCPodcastApple

Thanks to our newest HUG Patron, Ayrton Beatty and long-standing Patrons: Laura Redfern, Pam Davis, Michael Liben, Nancy Jensen, Alicia Lynch, Deena Barber, Carlee McGuire, Carter & Faye Mayberry, and Frank Jaworski. We appreciate you!

Chapters

• 0:00 H2HwAnna&ReginaLawrence
• 11:06 Segment 2
• 23:04 Segment 3

Transcript

Regina Lawrence: 0:00

You will never know, somebody will have the George syndrome unless you get genetic testing.

Anna Jaworski: 0:12

Welcome to Heart to Heart with Anna. I am Anna Jorski and the mother of an adult with a single ventricle hurt. That's the reason I'm the host of your program. Today's guest is Regina Lawrence, mother to 11-year-old Tina and 3-year-old Aubrey. She's also wife to Jeremy Lawrence. Will, aubrey and Jeremy have George syndrome. According to Boston Children's Hospital, george syndrome, or 22q11.2 deletion syndrome, is a genetic condition that causes a combination of medical problems. These problems can vary widely from child to child, but may include heart defects, cleft, palate speech or feeding problems difficulty finding infections, low calcium levels, kidney problems learning or behavioral issues and facial differences.

Anna Jaworski: 1:04

Aubrey has approximately 22 specialists she works with to handle all that is involved with living with DeGeorge syndrome. Mom Regina states that developmentally, aubrey is approximately 18 months to 2 years of age, so she's a little bit delayed. Jeremy's diagnosis is fairly recent and they are still learning what the diagnosis means for him. He has been referred to a cardiologist for treatment and monitoring. Jeremy is managing his diagnosis while working two jobs that keep him very busy seven days a week. That is really amazing that he's able to do that, and we now know that he's having to have his heart monitored. Regina is also a volunteer with HeartUnited Club. She's part of the CHC podcast team, which is our newest podcast featuring congenital heart conversations. Welcome to Heart to Heart with Anna Regina.

Regina Lawrence: 2:00

I'm happy to be here and thank you for having me, gina.

Anna Jaworski: 2:05

I'm happy to be here and thank you for having me. I'm happy to have you on this program. It's been so much fun working with you on the CHC podcast, but it's about time you come on our tour with Anna. Yes, we learned in the opening that you have a daughter and a husband who both have DeGeorge syndrome. So let's start with Aubrey, your little girl. Can you please tell me when her heart condition and the DeGeorge syndrome diagnosis happened?

Regina Lawrence: 2:31

I was 14 weeks pregnant with her.

Anna Jaworski: 2:35

And they were able to determine the DeGeorge syndrome.

Regina Lawrence: 2:37

Then yes, so I had a. It's called a CVF. They take a sample of your placenta. It is very risky for myself and for Aubrey, and that is how we could find out that she had the George syndrome and a heart defect, because it is genetic.

Anna Jaworski: 3:10

Okay. So you had this very risky procedure. You already had a TINA, and TINA is in double digits now, so it's been a little while since you were pregnant. Why were you having this very dangerous test? Did you suspect something was wrong?

Regina Lawrence: 3:30

Well for the CVS. They told me that Aubrey was supposed to have Down syndrome and I said let's go with more tough things to actually find out what's going on and see what kind of answers you can get.

Anna Jaworski: 3:52

Wow, even though you didn't really suspect anything aside from Down syndrome, you agreed to have this more dangerous test because you wanted to have more information.

Regina Lawrence: 4:03

Yeah.

Anna Jaworski: 4:05

You thought she had Down syndrome. You said wait a minute, let's get more information. I said if we have this test it's called the CVS but it's a little bit risky. But when you have this done we'll have the genetic makeup of your child and that will let us know for sure whether she has Down syndrome or some other condition. Is that right?

Regina Lawrence: 4:29

Yes, so that's how they could tell that she had the George syndrome.

Anna Jaworski: 4:33

So since we know George syndrome is genetic, did you and your husband both get tested after that? I did four different tests on myself and I actually found out that I have a missing chromosome, that I'm supposed to have a smaller head than my whole body, but I've never had a doctor tell me that. Wow, but that's not DeGeorge syndrome. So is that why?

Regina Lawrence: 5:10

you decided to have your husband tested as well. So jeremy was like I would like to get tested, but I want to wait until aubrey is born to make sure that she has the george syndrome, because the doctors told us once she was born they were going to test her to make sure that she had the George syndrome.

Anna Jaworski: 5:36

So she was born. They could tell something was wrong, but they were prepared for that. Right yeah, but they were prepared for that, right yeah.

Regina Lawrence: 5:52

Did she go straight to the NICU after she was born? I had her at Brigham and Women's Hospital in Boston and they have a special bridge that goes right over to Boston Children's Hospital and she went straight to the cardiac ICU.

Anna Jaworski: 6:10

That must have been hard for you.

Regina Lawrence: 6:15

It was hard. I had a C-section. She did not cry during delivery. I know that they brought the warmer over to me so I could see her, but I was a complete mess. I don't remember seeing her at all, oh sweetie.

Regina Lawrence: 6:35

Well, that's hard, that's traumatizing it was, and I couldn't visit her until almost 24 hours later. But I will say I am so thankful for Jeremy for going over with the doctors to bring her over to Boston Children, stay there, give them some information, then he would come back to visit me and then later on he would go visit again and he would do Zoom or FaceTime with me just so that I could see her. But it was still not the same and it was during COVID. So there were all those concerns on top of everything else, but it was still not the same, and it was during COVID.

Anna Jaworski: 7:25

Oh, so there were all those concerns on top of everything else. When did Aubrey have her first surgery?

Regina Lawrence: 7:34

She was actually getting wheeled into the OR when she was exactly 24 hours and one minute old. Her surgery was actually 14 hours long.

Anna Jaworski: 7:51

Oh my gosh, that's forever. What did they?

Regina Lawrence: 7:55

do Because she had alcohol in her car. She was born without the right valve, born without the right valve so they had to put in a micro, a micro a valve, a mitral valve.

Anna Jaworski: 8:14

Yes, Mitral valve. Okay, so she didn't have a mitral valve. She was a tiny baby. That's open heart.

Regina Lawrence: 8:25

You can't do that in a cat lab, no, wow.

Anna Jaworski: 8:28

Now, did they use a mechanical valve or did they use a pit valve?

Regina Lawrence: 8:32

It was a miniature valve at first.

Anna Jaworski: 8:36

Sure, because she was so tiny. So that was her first surgery. Has she had other surgeries since then?

Regina Lawrence: 8:46

Yes, she had her second open heart surgery at 10 months old to get her valves replaced. After that surgery there was complications where she went into AV block and they had to re-intubate her. They thought she had a seizure on top of it so they did EED to make sure no seizures acted for her 24-hour test. She was using a temporary pacemaker a lot so the team told me and Jeremy that it was questionable that she may need a pacemaker, but she never did so far.

Anna Jaworski: 9:49

That's good, because pacemakers in infants is really hard, and even now she's not an infant, she's a little girl. But it's still so much harder to put a pacemaker in a small person than it is an adult. Yes person than it is an adult. Yes, do you have any helpful advice regarding what parents should do if their baby is diagnosed?

Regina Lawrence: 10:15

with DeGeorge syndrome, all DeGeorge syndromes. Everybody has different, different facial features, different heart condition. Not all the George Syndrome candidates are the same, they're all different. It's always good to find families or find researchers that are with the George Syndrome, even if you're just gathering together for a Zoom call and getting to meet other families, because it has helped me in my life as a mother. I always thought Aubrey was the only person out there with the George syndrome and really I've met a lot of people.

HUG Disclaimer: 11:06

This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. The opinions expressed in the podcast are not those of Hearts Unite the Globe, but of the hosts and guests, and are intended to spark discussion about issues pertaining to congenital heart disease or bereavement.

Hearts Unite the Globe Podcast Network: 11:27

You are listening to Heart to Heart with Anna. If you have a question or comment that you would like addressed on our show, please send an email to Anna Jaworski at Anna at hearttoheartwithannacom. That's Anna at hearttoheartwithannacom. Now back to Heart to Heart with Anna at hearttoheartwithannacom.

Anna Jaworski: 11:47

Now back to Heart to Heart with Anna. Before the break, regina, we found out about Aubrey's diagnosis and some of the symptoms for DeJorge syndrome were identified in the opening, but we haven't really talked about Aubrey's or the fact that her mitral valve had to be replaced. But you and I talked before we started recording and you told me that she has a cleft palate and I think that DeGeorge syndrome is like hypoplastic left-hand syndrome or single ventricle, where there are no two people who are exactly alike with exactly the same symptoms. So can you tell us what characteristics of DeGeorge syndrome Aubrey has and then later we'll talk about what is being done to help her with those different characteristics?

Regina Lawrence: 12:34

With DeGeorge syndrome you can have smaller ears, a smaller nose. Your mouth can be smaller. A smaller nose, your mouth can be smaller. You may have I call it a no neck neck Like. You don't have a regular neck, it's just your shoulders and then your head. Aubrey has the cleft palate that we are getting repaired shortly, but otherwise there is really not much facial features that are different. Some people with DeGeorge syndrome does not have any of that.

Anna Jaworski: 13:16

Wow. So how did they get the diagnosis we?

Regina Lawrence: 13:19

didn't know. Audrey had a cleft palate. Until in March of this year we knew that she had issues with her uvula, but not her palate. We found out when we went to the cleft lip and palate program that usually they wait until they're about three, four years old, because apparently your palate is not developed until you're three, four years old. So that is why we found out a little bit later. Was she?

Anna Jaworski: 14:08

having feeding issues.

Regina Lawrence: 14:21

Aubrey has had a feeding issue. She couldn't swallow correctly. She went for a swallow study and it's only a 15-minute swallow study and she failed. But it's okay because we're still going for feeding therapy. But it's okay because we're still going for feeding therapy. I'm working really hard with her at home and some days it's a hit and some days it's a miss. Her feeding team is actually a GJ, so the G goes into your stomach and the J goes to your small intestine.

Anna Jaworski: 15:06

It's hard for me to imagine everything this poor little girl has been through. It's been a lot. Now let's talk about your husband. What symptoms did he have, jeremy?

Regina Lawrence: 15:20

knew he had a feeding tube. It was just a regular G-tube when he was a kid. He actually still has his scar to this day. We went back to his old records when Aubrey was two months old, when he got tested for DeGeorge syndrome and now he's trying to get his father tested because his mom's not alive. He wants to know what side of my family did it come from? But he's not forcing anybody to get tested. But we went back to old records, found out that he had a hole in his heart, but he has never needed surgery because it closed up when he was a child.

Anna Jaworski: 16:05

That's amazing that he never needed surgery and he's lucky that it did close up as a child.

Regina Lawrence: 16:16

Was he surprised to get the diagnosis? He was surprised to get the diagnosis but he said at least he knew what the George syndrome was because we were already doing all our information about Audrey. And he does remember having hearing aids when he was younger and he didn't get glasses until he was in middle school, almost high school. When he was in, I believe it was elementary school, he had ADHD. So he knew he had some behavior issues. But he said to me I wouldn't think all of this would be considered under one syndrome.

Anna Jaworski: 17:05

Yeah, it's a spectrum, so there's this wide range of symptoms and, yeah, it seems innocuous that his daughter would have it and have this fairly moderate to severe case where she has the cleft palate and she has heart issues. Does she have any other characteristics of DeGeorge syndrome that make you say, oh yeah, that must be what this is?

Regina Lawrence: 17:36

She has a very weak immune system. Every time I have to take care of her I'm putting a mask on, like if I'm in my bedroom for the night I'll take my mask off, but if I have to tend to her at night I'm putting my mask on because I don't want her to get sick, because then that means we may have to go to the ER if she gets sick, because sometimes it is not good for her once she gets sick.

Anna Jaworski: 18:13

Yeah, when your immune system is compromised, that is scary, and sometimes there are things that you can get in the hospital that you can't get anywhere else, so that makes you afraid to be in the hospital.

Regina Lawrence: 18:26

Aubrey actually loves going to the hospital. Even if we're just going to the hospital for a doctor's appointment, she will make some type of excuse to take an ER visit.

Anna Jaworski: 18:42

But the ER doctors don't really know what to do with someone with DeGeorge syndrome, do they?

Regina Lawrence: 18:47

Actually at Boston Children's Hospital. They will not let us sit out in the waiting room. They would actually take us right back if she was just having heart issues, because they know that it could be her heart, it could be her immune system. So I actually have never sat in the waiting room with her.

Anna Jaworski: 19:17

Well, that's nice. That's nice because she doesn't need to be exposed to all of that need to be exposed to all of that.

Regina Lawrence: 19:33

When we have had to go to the ER and there are no rooms available they only have three triage rooms and they will take the family. That's supposed to be the next bed. They will take them out to the waiting room if they're not urgent, just to have us go into that triage room, just so that Ari is not exposed.

Anna Jaworski: 19:53

It's good. It sounds like the doctors are doing everything they can to help her to not get sick.

Regina Lawrence: 20:02

Yeah, okay.

Anna Jaworski: 20:04

So we learned at the top of the show that you're also mom to Tina and you have a husband who has DeGeorge syndrome was a diagnosed until he was an adult. You have a daughter who was diagnosed in utero. It's funny because you have opposite ends of the spectrum going on there as far as diagnosis. Have you had Tina tested or are you going to?

Regina Lawrence: 20:27

We got Tina tested for just the George syndrome and it came out that she does not have the George syndrome. But we just found out that she actually has a heart murmur and it's not that concerning. But she just met with the cardiologist last week for the very first time and talked to Tina on things to go over if, say, she was at school, or if she was at home, like what she would have to do, or let me know somebody at school if she felt anything. But otherwise, tina is a pretty healthy 11-year-old girl.

Anna Jaworski: 21:24

I'm so glad to hear that you have Tina and then, many years later, you ended up having Aubrey. Does the fact that your husband has DeGeorge syndrome and Aubrey has DeGeorge syndrome, has that affected your family planning, or did you only plan on having two children?

Regina Lawrence: 21:44

Our plan was always two, two kids together. Jeremy also has another daughter and we actually don't know. Finding out about the George syndrome and talking to other families that have more than one kid that has the George syndrome, they have told me that some things are kind of difficult. There's this one mom that I've been talking to. She has a son and a daughter. Both have the George syndrome and they're both different. One has a different heart condition, the other one has a different heart condition. One's on a feeding tube, one eats by mouth, one has hearing aids, one wears glasses. Uh-huh.

Anna Jaworski: 22:48

So, even though they're both from the same family, same parents, both have DeGeorge syndrome, it's very different the way it's expressed in both of them.

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Hearts Unite the Globe Podcast Network: 23:32

Heart to Heart with Anna is a presentation of Hearts Unite the Globe and is part of the Hug Podcast Network. Hearts Unite the Globe is a nonprofit organization devoted to providing resources to the congenital heart defect community to uplift, empower and enrich the lives of our community members. If you would like access to free resources pertaining to the CHD community, please visit our website at wwwcongenitalheartdefectscom for information about CHD, the hospitals that treat children with CHD, summer camps with CHD Summer Camps for CHD Survivors, and much, much more.

Anna Jaworski: 24:07

Regina, you have been such a strong advocate for the CHD community ever since you've had Aubrey. What do you want people to know about DeGeorge Syndrome and CHDs?

Regina Lawrence: 24:19

With DeGeorge Syndrome. I know it is a rare condition. George syndrome I know it is a rare condition, but you never know who has the George syndrome or not, or a CHD, because they can be like a normal person just walking down the street.

Anna Jaworski: 24:43

That's fascinating that the spectrum goes to where you would never even guess it, which I guess is the case with your husband. Since he was so much later being diagnosed, you had no idea that he had anything wrong with him, right?

Regina Lawrence: 24:58

No, I did not. The only thing I noticed was oh, you have a stab wound. And he was like no, that's not a stab wound. That was where I had my feeding tube, because the incision looks like a stab wound where I thought got stabbed. And instead he was like no, I had a feeding tube and at first I thought he was a bad guy because I thought it was a bad wound, not a feeding tube. Sure, but think of it as you never know, right.

Anna Jaworski: 25:43

What's the most important thing you want people to know about the George syndrome?

Regina Lawrence: 25:49

The most important things you want to know about the George syndrome is that you will never know somebody will have the George syndrome unless you get genetic testing.

Anna Jaworski: 26:06

So I guess I did a genetic panel on Jeremy. Yes, did they find anything else unusual?

Regina Lawrence: 26:18

No, all they found out was the George syndrome.

Anna Jaworski: 26:24

But he doesn't have a severe case of it like his daughter, and he's lived a normal life for how many years? For like 30 years before he got his diagnosis. Let's see.

Regina Lawrence: 26:36

He found out when he was about 35.

Anna Jaworski: 26:38

Okay, I can't believe that it's already time to end this program. It's gone by so fast, fast, and I feel like I've learned so much. I'm so glad that, even though your husband has this condition, it has not impeded his life, it hasn't hurt or affected his quality of life, he's still working hard for his family and he doesn't seem to have any negative consequences since he got the diagnosis. Is that right? That is so true. That's just amazing to me, and does that give you hope for Aubrey?

Regina Lawrence: 27:15

yeah, aubrey had a summer program because she's in special need, but they are helping her so much Now. One of her goals at preschool is to get her to be out of the collaborative school into a regular school by the time she gets to kindergarten, or by at least second grade.

Anna Jaworski: 27:45

I think that's a good goal, does she seem to be on track for that?

Regina Lawrence: 27:51

This is her first time going to preschool. We've had a couple bumps in the road, sure, but it's okay for now. The teacher and the staff are going to help out, and if she does hit her goal sooner then they will let me know.

Anna Jaworski: 28:12

That's awesome. It's great you have her in a special program now. While she's young. Kids' brains are elastic. Kids are amazing how they can come back, even though she is developmentally delayed. It seems like she's starting to catch up and before the recording you and I were talking and she's about to have a surgery soon. That will hopefully make things a lot easier for her. Do you want to talk about that briefly?

Regina Lawrence: 28:41

sure, with her cleft she will get that repaired and her new willa and she will start eating by mouth, maybe speaking, because right now she's nonverbal and she uses a communication tablet to communicate. Plus, she knows American Sign Language.

Anna Jaworski: 29:07

Have you learned it as?

Regina Lawrence: 29:08

well, I have a second cousin that is deaf, and I'm the only family member that can actually communicate with him.

Anna Jaworski: 29:20

Oh my goodness, so this was something you were already familiar with.

Regina Lawrence: 29:26

Yes, and with Jeremy losing his hearing, he still wears hearing aid. I still am trying to train him on how to use sign language. Sure, and it is not easy. It's better to start them when they're young, sure, and keep being repetitive.

Anna Jaworski: 29:51

yeah but he'll learn it through aubrey, because she'll help teach him. Yes, that's awesome. Has that been the biggest challenge for you then?

Regina Lawrence: 30:04

Yes, because there are times where she will sign the word wrong and really it's the way she wants to sign it. But once, after a few months of trying to understand what she wants and me, then I finally got in touch with that. But still it's not easy. But then with her communication tablet, she knows how to edit her communication tablet. So the other day I was like what do you want? And I'm like where's the walk button? And she shrugs her shoulders and I said what happened to it? Did you delete it? Shrugs her shoulders again, like I don't know. I said what happened to the button? Shrugs their shoulders again and waste to it like it's bye-bye. I said apparently you learned how to edit your communication tablet.

Anna Jaworski: 31:16

Oh, my gosh, that's so cool. It's not great that she took things away that maybe she needs, but I think it's funny and showing she has her own little sassy personality and, by gosh, she needs it to function when you have all these challenges. At least she has a sense of humor and she's going to do what she wants to do, and that's okay because you can use that to your advantage to help her to stay motivated. Yeah, I am so glad that you came on the program and shared with me about DeGeorge syndrome. So I have a lot to learn since there are so many variations and there are so many different things that can happen with it. But I'm so happy to see that she's getting the help she needs, that she is making developmental gains and she has a goal to be able to go to school with her peers. I think all of that is wonderful and I hope she makes it. Oh, thank you. She's lucky to have you for a mom because you've been such a strong advocate for her.

Regina Lawrence: 32:25

Yes, I have been so strong. I do get my own meltdown.

Anna Jaworski: 32:30

But it's okay. If anyone deserves to be able to have a meltdown every now and then I think it would be you, Regina. You have a lot to deal with, but I see you on Facebook and I see you in the CHC podcast and, even though you are dealing with a lot right now, you're handling it with a lot of grace and you're an inspiration.

Regina Lawrence: 32:53

Oh, thank you so much, Anna.

Anna Jaworski: 32:56

Thank you so much for coming on the program today, Regina. I really enjoyed chatting with you.

Regina Lawrence: 33:01

Thank you for having me on the show and I really enjoyed talking with you about the George syndrome. Thank, you.

Anna Jaworski: 33:10

I had fun too, friends. That does conclude this episode of Heart to Heart with Anna. Thanks for listening today. Please consider becoming a patron or a volunteer. Regina actually volunteers with the CHC podcast, which is Congenital Heart Conversations. I love having people who are interested in podcasting to help out. I'm always looking for volunteers for Heart to Heart with Anna. We use a lot of volunteers with the CHC podcast and we also use volunteers with our bereaved map podcast called Bereaved, but Still Me. If you know Spanish, please reach out to me. We're looking for some volunteers to bring back Guerrero Socorro Zon. It's on hiatus right now, but if we've got a few extra volunteers we might be able to resurrect that podcast and get it going again for next year. If you are interested in volunteering, visit the HUD website that's heartsunitetheglobecom. And remember my friends, you are not alone.

Conclusion: 34:09

Thank you again for joining us this week. We hope you have become inspired and empowered to become an advocate for the congenital heart community. Heart to Heart with Anna, with your host, anna Jaworski, can be heard at any time, wherever you get your podcasts. A new episode is released every Tuesday from noon Eastern time.