Episode 60: Shawn and Kristen Connor, Rett Syndrome Awareness
Kristen and Shawn are the parents of Brynn who is now 9-years-old; as a toddler, Brynn was diagnosed with Rett syndrome, a rare neurodevelopmental disorder that disrupts a child’s communication, coordination, muscle control, and growth over time. The condition most often affects young girls, although it can affect boys as well. Kristen and Shawn share their daughter's story to bring awareness to Rett Syndrome, for which there is currently no known cure.
Intro Voices 00:04
Where do I go? It only happened once. I think I was singled out. The phone calls began about one month ago. What is hazing? Something happened to me when I was younger. I'm worried about my safety. He said he was sorry. Can someone help me? Where can I get help? Can someone help me? This is You Matter, a podcast for the NYU community developed by the Department of Public Safety.
Karen Ortman 00:31
Hi, everyone, and welcome back to You Matter, a podcast created to teach, inspire and motivate members of the NYU community who have been victimized in some form or fashion and to identify resources both on and off campus that can help. I am your host Karen Ortman, Associate Vice President of Campus Safety Operations at the Department of Public Safety, and a retired law enforcement professional. Today I welcome Kristin and Sean Conner, Kristin and Sean are the parents of Brynn who is now nine years old. As a toddler, Brynn was diagnosed with Rett Syndrome, a rare neurodevelopmental disorder that disrupts a child's communication, coordination, muscle control and growth over time. The condition most often affects young girls, although it can affect boys as well. Kristin and Shawn are here to share their beautiful little girl's story, as well as bringing awareness to Rett Syndrome, for which there is currently no known cure. Kristin and Shawn, welcome to you, Matt.
Kristen Connor 01:39
Thanks so much.
Shawn Connor 01:40
Thank you for having us.
Karen Ortman 01:42
Kristin and Sean, tell me, how did you meet?
Kristen Connor 01:46
So, Shawn and I met at St. Joes, I think it's official that we've been together 20 years now. Sean was two years ahead of me at St. Joseph University in Philadelphia. I guess we started dating when he had left college and I was still in, and we've been together ever since. We got married in May of 2005. We were blessed with our first daughter Taryn who's now 12 in 2008, followed by Brynn in 2011, and we also have a son younger than Brynn, Devin and he was born in 2013.
Karen Ortman 02:25
When Brynn was born, was there anything telling about her birth? Was there anything telling about your pregnancy with her, Kristen?
Kristen Connor 02:35
No actually, I was very blessed with three, quote/unquote, normal pregnancies, no issues, never high risk. Brynn was a full term baby she was actually do the first of July and I she didn't come until the eighth, so she was actually 41 weeks. I mean, the only rarity was that I did deliver my first daughter via C-section, Brynn was considered a VBAC, which I did deliver her vaginally, but nothing I mean, girls with Rett Syndrome, especially Brynn, totally normal at birth. They develop normally for the first at least 12 months, usually, you don't really have any signs until 12 to 18 months. In Brynn's case, she never walked or talked, around nine months at her well visit with the regular pediatrician, we did bring up some concerns that she wasn't crawling at the time. You know, just being a mom on paper, you kind of look at the milestones, and we don't have another daughter who hit everything normally. Brynn's pediatrician at the time suggested if nothing changed in the next three months, we would just start to visit early intervention, which is physical therapy in the home. No issues other than that, or concerns.
Karen Ortman 04:01
And the pediatrician wasn't alarmed by your concern at nine months and Brynn not crawling.
Kristen Connor 04:10
It was very common, I mean, not every kid does everything right on target. Then, around one year, we did start those services. It was physical therapy, and Brynn did actually start crawling around 14 months, so she was pretty much just delayed.
Karen Ortman 04:29
When did you become concerned that there is something more serious going on than a delay?
Kristen Connor 04:38
After she started crawling, walking didn't really seem anything that she had any interest in at all. At that point, we're hitting 14/15/16 months, and the pediatrician did suggest that we visit a neurologist. We did go to a CHOP neurologist, basic tests, a couple blood tests, an MRI, at the time again no concerns.
Karen Ortman 05:06
So for the benefit of listeners who are on the West Coast or are international, what is CHOP?
Kristen Connor 05:13
Okay, so CHOP is actually the Children's Hospital of Philadelphia, which we feel super blessed to have very, very close to us. It's in Philadelphia, but we live in New Jersey about 30 minutes away.
Shawn Connor 05:26
At this point Brynn had a generic diagnosis of, globally delayed. In addition to seeing a neurologist, we also saw a couple different specialists. No one was able to pinpoint the reason for Brynn's delays.
Karen Ortman 05:44
So, up to this point, what was the concern of your family's? What was your concern? Was there a concern?
Kristen Connor 05:55
Yeah, I think as a mom whenever you're not, quote/unquote, the norm, your head always goes to worst case scenario. Rett Syndrome was never even something, Sean had mentioned that we did hear of it, but it wasn't something...
Karen Ortman 06:12
That was on your radar.
Kristen Connor 06:14
…inhertied, it's not in our family. It wouldn't even be on your radar, the doctors didn't really mention it. We first just thought that the doctor wanted to test for that, because I want to say Brynn was, what, like 19 months?
Shawn Connor 06:30
Somewhere in that range.
Kristen Connor 06:33
I had gone to a follow up visit, she had us going probably every three months to see Brynn's progress. The appointment actually went well, and then the neurologist called me on the cell phone about 30 minutes later, I was actually driving, and she suggested after looking at her notes, that she wanted to test for something called Rett Syndrome, in addition to the other two generic tests that she suggested. Because of our knowledge of it, I said, can we please visit genetics first...
Karen Ortman 07:12
Kristen Connor 07:13
...before we testing for that? I think because I kind of wanted to do one step at a time. I'm an emotional person anyway, I was pregnant, actually, at the time with Devin.
Shawn Connor 07:25
Six or seven months pregnant.
Kristen Connor 07:26
Yeah, pregnant with Devin. I just felt like, because she had suggested visiting genetics and the appointment, I kind of just wanted to stick to that, we had a plan when we left and I don't want to mess it up. She was fine with that. We got those blood test, probably a couple weeks later, results, again, normal for Brynn
Karen Ortman 07:47
So before you before you were contacted by the, I don't know, whoever contacted you on your cell phone, the neurologist...
Kristen Connor 08:00
Karen Ortman 08:00
...the one that called you and suggested Rett Syndrome, you said that you had gone to an appointment for a progress checkup when Brian was like 19 months, was there any progress that was observable?
Kristen Connor 08:16
She was kind of status quo, she wasn't doing anything worse, but she wasn't walking or talking, which are the two big things.
Shawn Connor 08:24
She was no where near a typical 19 month level in anything.
Kristen Connor 08:31
Yeah. I think that with Sean and I, we at the time, Brynn was always slow to do things and she was a very content kid, so because she started to crawl we were super happy about that, we never would never lost hope that she would walk. We figured she was just gonna walk, I mean, the normal scale of walking is nine months to 18 months, which is a huge scale, so even if, say she was going to walk at 21 months, we just figured it was going to happen late. That was I want to say September of 2013, that appointment, and it was a while it was probably eight weeks, fast forward to October 28.
Karen Ortman 09:14
And this is after the blood tests?
Kristen Connor 09:16
Yeah. So the blood test that we got were normal.
Karen Ortman 09:19
Kristen Connor 09:20
And then on October 28, I received a phone call from that same neurologist's office, of course I answered it, I was actually driving.
Shawn Connor 09:31
Krsten was driving the car, seven months pregnant with our son. Taryn, I guess was at preschool, but Brynn was in the car with her. So, it was seven months pregnant Kristen with Brynn in the car driving down the street when she got this phone call.
Kristen Connor 09:43
Yeah, so I answered it. It was the same neurologist saying she wanted follow up on some on a blood test, and she flat out saif it, for Rhett syndrome. I said, oh, doctor, remember we didn't get that test, we only got the other two not that one. She said, no, we did it, it was positive, just like that. She's like, wait, are you driving? I said, yeah, I am. Just thinking about that day I actually just get so upset still, it's just reliving those feelings. In hindsight, what happened was, because she suggested doing that blood test to me, she had already entered it in a computer and didn't delete it. So when we got labs for those first two tests I mentioned, they actually tested for three different tests unbeknownst to us, we didn't know at the time. In hindsight, we would have found out eventually, so the story stinks, it's very emotional, but...
Shawn Connor 09:59
There's no good way to get that diagnosis. Everyone's story is our story when they found out.
Karen Ortman 10:56
So you you learn in that phone call on October 28 2013 that your daughter is really your daughter has tested positive for Rett Syndrome?
Kristen Connor 11:12
Karen Ortman 11:14
You get off the phone. What do you do next?
Kristen Connor 11:17
I mean, it was devastating. Luckily, I was semi-close to home, and I pulled up to my house, and I like Sean mentioned, I was carrying Brynn, we actually had just moved in this house like the week before, and I walked in the front door, and I just, you know, put Brynn down and fell to the floor. I remember laying on the floor of my house not knowing what to do. Of course, I called Shawn right away. He came home because on that phone call, the neurologist suggested coming in that day or the next day. As most people can relate to, when you get blindsided by any kind of news, you're not thinking 100%, so, I kind of just said, I'll call you back. Sean said, I'm coming home, we're going today, there's no point waiting till tomorrow.
Karen Ortman 12:09
Tell me about the phone call that you received from Kristen.
Shawn Connor 12:12
I do remember trying to calm her down. I definitely remember getting off the phone and saying I was going, I had a couple things to clean up at the office and then I was in the car. I did say we should to CHOP neurology today. I remember saying that I was gonna clean some things up my office, and then I was gonna head home. I definitely remember hanging up the phone there. I had taken the call outside and then I walked back in my office and I was in there, and I sat there for like 20 minutes.
Karen Ortman 12:44
What were you thinking?
Shawn Connor 12:46
I was trying to think about work, then I realized I wasn't doing work, I was thinking about a million other things besides work and right at that point I just realized how pointless work was in the scope of my life at that moment. I literally just packed up my stuff. I didn't talk to anyone, I just packed up my stuff and walked out the door. On the way home I actually called Kristen's, which I forgot about this one til right now, but I called Kristen's best friend from high school who actually was a nurse, and I remember I pulled over in a Wawa parking lot. Wawa, for those of you don't know what shop is, it's a regional gas station/convenience store chain in the Philadelphia market. I remember pulling over at a Wawa and calling Kristen's best friend from grade school and high school. She was in our wedding party, and she's a nurse and she's actually a nurse at CHOP, and I called her and I told her about the news. I just asked her a couple questions and she kind of reassured me and we had a good conversation. Then I headed home and got with Kristen and Brynn.
Kristen Connor 13:56
When we got to that appointment, it was at that same neurologist who was considered general neurology, and she actually said, I'm going to pass you on to more of a specialized neurologist. That was our last time with her, she said was honest with us and said, I don't know much about Rett Syndrome.
Karen Ortman 14:16
So when you went to that appointment that day, you didn't learn too much more information from that initial neurologist.
Kristen Connor 14:26
No, she had a printout. Like Sean mentioned, Rett Syndrome is or if he did not mention it, it's a genetic mutation on one gene. It's called the mecp2 gene. She had a printout of what Brynn's mutation would be, what hers is. When they tested Brynn for Rett Syndrome, it's really just a simple blood test, like I mentioned, and they were able to find out where her mutation is. So, she did give us that, and then we soon followed up with a different neurologist who we still see at CHOP, and he's more specialized, he actually, has since, been very prominent in the Rett Syndrome community. People come from all different parts of the country just to see him for Rett Syndrome.
Karen Ortman 15:15
What's his name?
Kristen Connor 15:17
Dr. Eric Marsh, we respect him a ton, and pretty much anything he says, we would do or follow his advice. He just great.
Shawn Connor 15:27
He's a great guy. guy. He's a great doctor and he's been dealing with Rett for many years. He has, I believe, hundreds of Rett girls in this care.
Karen Ortman 15:37
So, if you could tell us about the progress that Brynn has made. I think that your story and how you, sort of, evolved with your daughter and her diagnosis, could give hope to other people.
Kristen Connor 15:59
I think the one thing that we learned about Rett Syndrome is it's not a cookie cutter disorder. We know girls with Rett Syndrome that are amazing walkers. In Brynn's case, she's never taken a step by herself. We know girls that are underweight, overweight girls that have scoliosis, girls that don't. There's a long list of symptoms and things that can go wrong with people affected by Rett Syndrome, but not every person has that.
Karen Ortman 16:33
And there are things that can go right too.
Kristen Connor 16:35
Yeah, Brynn, unfortunately, has never walked by herself and never talked. Those are two things that, of course, we would love for her to do. As far as progress, I think that Shawn and I both feel like she's a very healthy girl. She's a healthy nine year old. We try to keep her strong, to answer your question, with physical therapy. She in school, so she goes to school, in a typical world pre-pandemic, nine days a week. Unfortunately, in the past nine months she did miss a lot of school. She went back in September for two days a week only. When she's there she gets physical therapy, speech therapy, occupational therapy, and then it's, called AT, so it's assisted technology. Outside of the home, we try to take her to physical therapy once a week at CHOP, which is again Children's Hospital of Philadelphia. Shawn takes her once a week to ride horses, it's like horseback riding therapy, which she loves. How does she do that?
Shawn Connor 17:42
We ride at a horse farm at one of the neighboring towns, She's actually ridden since she was about three. There's two different ways she's ridden in the past. I think when she first started riding, Brynn used to just sit on the horse and the therapist would actually hold her on the horse from the ground and walk next to her. That was when Brynn was, say two or three, she was tiny and she was riding ponies at the time. Then when she got bigger, she got a different therapist, and that therapist actually used to ride the horse with Brynn. The therapist would get on the horse in the saddle and Brynn would sit right in front of the therapist. The therapist would ride the horse around and hold Brynn with one hand and hold the horse with the other hand. She wasn't galloping around, but they were going around and Brynn would ride with her. That therapist moved on probably about two to three years ago, we have a new therapist now. Brynn is also getting bigger, she's nine, this probably started when she was about seven, so over the last three years 7/8/9, I get on one side of the horse and the therapist gets on the other side of the horse, and Brynn sits on the horse all by herself. They put a harness on so she has like, handles on the side that we can hold on to, like, one hand we're holding the harness the other hand we're holding her leg and then there's a third volunteer, they're considering myself and the therapist volunteers, there's another person who leads the horse. It's very good for core strength and its also regular activity that Brynn enjoys. She loves animals. She loves the wind in her face. It's a great therapy and it's also something that she gets enjoyment out of.
Karen Ortman 19:27
She can stabilize herself sitting up? She has had like neck control, head control?
Shawn Connor 19:34
Yes, she has head control and neck control and she's actually sitting, you know, when we were missing her developmental delays, Brynn was an excellent sitter. She started sitting at like seven months and seven months later she was still sitting but she very rarely fell over that age. She was a great sitter. Now, at the age of nine, it depends on the position you get her in, but if you get her in right position she can sit for a couple minutes unassisted, no problem.
Karen Ortman 20:04
How about uses of hands?
Shawn Connor 20:07
So one of the telltale signs of Rett Syndrome is a large majority, I think it’s like 99% of girls with Rett, do not have purposeful use of hands. They also have what they call repetitive hand motions. So, Brynn goes like this a lot.
Karen Ortman 20:34
So, for people who can't see what you're doing, you're touching your fingertips with your thumb.
Shawn Connor 20:40
Yeah, they'll touch their fingertips with their thumb, or they'll keep making a fist like opening and closing a first with their hand, some girls clap, some girls put their hands behind their back, like there's always something to do with their hands. It's repetitive, over and over. Brynn will do that 1000 times a day. Another telltale sign of Rett in girls, and they don't know the reason behind this, but girls will, what they call mouthing, where they'll put their hands in their mouth. A large portion of the day, if you look at Brynn, she's either doing hand manipulations or she has her hand in her mouth.
Karen Ortman 21:13
So, we talk a lot about girls associated with Rett Syndrome. Does this not affect boys?
Shawn Connor 21:23
It's a hard question. It does affect boys, but it's only about 1% of the cases. Rett is classified as a rare disease and only about 1% of the cases affect boys, generally, and boys, if they get Rett Syndrome they don't last even to term. The reason being, as Kristen mentioned earlier and I think you mentioned in your opening, Rett Syndrome is a genetic disorder and it's linked to a genetic mutation that occurs on the X chromosome. If we all harken back to our days in high school biology, girls have two X chromosomes and boys have one X and one Y. Rett Syndrome is caused by a genetic mutation in a specific gene that Kristen mentioned earlier, the gene is called MECP2 and its job is it also create an important brain protein, and the protein is also called MECP2. So Brynn has two X chromosomes, one has a corrupted copy of MECP2 on it, and one has a healthy copy, so because she has one corrupted and one healthy, she's able to get enough brain protein to survive. Boys have one X and one Y so they don't have a healthy copy of an X chromosome. For almost all cases of boys, it's unfortunately, a death sentence. There are very, very rare cases of boys living with Rett, but generally Rett is associated as an all-female disease, unfortunately, just because of the vast number of girls that have it.
Karen Ortman 23:06
Is Rett Syndrome linked to any specific cause?
Shawn Connor 23:11
So no. It's linked to MECP2, it's linked to a genetic disorder, a mutation on the X chromosome, but in 99% of the cases it's random, it's a random mutation that occurs. It doesn't matter your socio-economic status, it doesn't matter where in the world you live, ethnicity, your race, it just randomly happens. So, you have just as much chance of getting if you live in China or Africa or America.
Kristen Connor 23:45
I think that sometimes it'll get confused because it's a genetic disorder, because it's on a gene, but it's not hereditary. So sometimes people think genetic equals hereditary and that's not the case. It's classified as genetic because it's on a gene. For our story, we had a healthy girl prior to Brynn, being her big sister, and then being pregnant at time of diagnosis for us, I was insistent that we test the baby or the cord blood at the time of birth.
Shawn Connor 24:20
We didn't know we were having when we were pregnant. We didn't find out if we were having boys or girls. So, Kristen was seven months pregnant and we didn't know if we were having a boy or a girl at the time. Sorry, continue.
Kristen Connor 24:32
So when Devin popped out a male they actually didn't even test the cord blood because they said they would have been able to tell if something was up right off the bat. If he had been a girl we would have went through with the test right there because I felt like it wouldn't be healthy for us to wonder for 18 months, even though it was on our side, all the doctors told us the odds are so minimal, especially, because you have Tyron already who's friends big sister. In hindsight, my son's about to turn seven in December, and he's amazing. I think he's actually a perfect addition to our family. I think it's what Shawn and I needed at the time. It's what Brynn Taryn needed at the time. It was almost like we were forced to, kind of, come back to some kind of normalcy from that emotional blanket of sadness that we had. We actually, as open as we are about speaking about Brynn's story and Rett Syndrome, because we are, we're very open, it did take us - other than immediate family - as we mentioned, she was diagnosed in October, we didn't even tell people until February. That's how hard it was for us.
Karen Ortman 24:32
So, tell me about that challenge, and how did it differ between the two of you?
Shawn Connor 26:01
I like to say that when we got the diagnosis, and keep in mind we're coming from two totally different perspectives, I'm the father, I'm a male. Kristen's the mother, she was also seven months pregnant, which brings a whole other level of emotions and probably hormones into them.
Kristen Connor 26:21
Yes, of course.
Shawn Connor 26:22
But I like to say when we got the diagnosis we were knocked down, but we weren't knocked out. It was close, it probably would have been like an eight count, but we were able to get off the mat. It definitely took us different times. But looking back to say November of 2013, there were some pretty dark times in my life, and I'm sure Kristen would echo it. At the time, I was reading everything I put about Rett Syndrome, and I was projecting 10 years down the line, like, what's our life gonna look like? You know, it’s just, it's really scary stuff you read.
Kristen Connor 27:01
And because as we mentioned, when you Google it, like anyone can relate to any medical thing. It's the worst thing you can do. Rett syndrome does have a laundry list of things that can be wrong, so when you Google it, you see everything, all of them.
Shawn Connor 27:16
Right. We had really we only met one Rett girl at that time, so our minds were in very dark places. I can tell you that we both grieved or processed the Rett Syndrome diagnosis at our own pace. I got to a better place quicker than Kristen did. And that's not an attack on Kristen. It took us...
Karen Ortman 27:40
It's a process.
Shawn Connor 27:41
Yeah, it's definitely a process. I was prepared to move on say, by like January. Kristen, I would say, more like in April, May, maybe even June.
Karen Ortman 27:51
So Shawn, you kind of dove into the diagnosis by reading everything that you could. Kristen, what did you do?
Kristen Connor 28:00
I avoided ever reading anything I could. I think that it's funny, because in real life, I'm like the communicator, and I dive into whatever I can, and Shawn's the avoider. In this, I just kind of felt like I wanted to focus on my new baby and I wanted to focus on Brynn and Taryn, kind of how they were at that moment. I was able to, realize myself, that Brynn being diagnosed with Rett Syndrome on October 28, she was still the same kid as she was on October 27. So, I was able to rein my worries in slightly that all these things weren't gonna happen that day. Once people know, again, added emotions when people are asking how you are all the time, how Brynn is, and asking questions. I number one, I didn't want to answer a million questions. Number two, we didn't know everything, because again, Brynn was the same kid she was prior to the diagnosis. I remember, because of Shawn's research, there's a bunch of different foundations with Rett Syndrome, and I think we both would mimic saying that finding the community of people that get it is super therapeutic now and has helped us on our journey. Shawn was ready to dive in to the Rett Syndrome club quicker. He discovered that there happened to be a conference from one of the foundations that was on the East Coast that was in Virginia, I think in June of 2014. He said, I want to go, I need to go, I want to learn more, I want to see how we can get involved, I want to meet people, and I said, great, I'm not ready to do so.
Shawn Connor 29:44
She said have fun.
Kristen Connor 29:45
I said I'm not going.
Karen Ortman 29:46
So you went alone?
Shawn Connor 29:50
I found this conference. It was an annual Rett Syndrome conference that circled the country so it would go from the northeast, to the west, to the south. Every year was in a different sector of the country, and that year, as dumb luck would have it, it was in northern Virginia which was a driving distance.
Karen Ortman 30:06
Shawn Connor 30:07
Future years, I'd have to take a plane, it would be more expensive. I was just ready to go meet people. So, I asked Kristen and she politely said, have fun but I'm not there yet, which I which I respected? Then, I asked my parents, and they were not interested. I asked my in-laws, they were not interested. I asked my sister and my sister in-law, who also were not interested. Again, I get it, everyone is processing at their same pace or aren't there. So I did, I got in the car and drove down by myself. There were literally hundreds of families there. Some came just with parents. Some actually brought their daughter, so I've met a bunch of girls spanning the ages of two to thirty.
Karen Ortman 30:57
With Rett Syndrome?
Shawn Connor 30:59
Karen Ortman 30:59
Shawn Connor 31:00
They had sessions. It was a conference, they had breakout sessions. One of the sessions was for dads only, there were some grandfather's in the group. I went in, and when you went in there, it was like in a hotel conference room. They had coolers of beer, and everyone was sitting around. It was just very nice, all these guys, and they were dealing with daughters who were teenagers, but they were still able to like unwind and relax, have a beer and laugh at life which was positive. to say. They were sharing positive stories about either fundraiser that they did, or adventures that they had taken their daughters on. That was that was very helpful and inspiring to me at the time. Almost a year to a day, probably 50 weeks to the day, of getting Brynn's diagnosis., we had our first fundraiser. It was a happy hour, we called it, The Happy Hour to help end Rett. It was very casual, a great, great night. It's kind of like a gala, but it's a happy hour so we don't wear a tie and you don't sit down.
Kristen Connor 32:06
We wear our jeans.
Shawn Connor 32:07
It's a four-hour cocktail party basically.
Karen Ortman 32:09
Shawn Connor 32:11
It's a four-hour cocktail hour. We had some baskets and we got up and said a couple words, we actually had and needed an expert there to help legitimize the event for our first year. We actually asked Dr. Eric Marsh, you know who Kristen mentioned is Brynn's neurologist and he addressed our attendees, and told them a little bit about Rett and a little bit about the positivity involved in the research, in that, you know, a cure is attainable. We just need to get the right amount of research funding behind it. We've been very blessed. As Kristen mentioned, I don't think we had 225 the first year, I think we had closer to 200. We've had now our seven events, no six, the seventh event was just canceled this last October.
Karen Ortman 32:59
You've been dong them every year?
Shawn Connor 32:59
Yeah, we've had six previous events, and each one has been attended by anywhere between 200 and 300 people. Every year we've out outperformed the year before, so it's been a great.
Karen Ortman 33:11
How much money have you raised for Rett Syndrome research?
Shawn Connor 33:14
We are very close to a half million dollars.
Karen Ortman 33:18
Shawn Connor 33:18
We are in the 470 or 480,000 range right now. We would have definitely closed, we were definitely beat half million if we had our event this year, but our event got canceled because of Covid.
Karen Ortman 33:30
Well, yay for you too. Thank you. Great.
Kristen Connor 33:33
Yeah, we partner with, I mentioned there's a couple of foundations, which all are great but we feel like our philosophies align most with the Rett Syndrome Research Trust. They focus pretty much just on a cure, which would be our end goal for Brynn. We give every dollar that we raised to them, because as they would say, if you look at their research dollars, because Rett is such a rare disease, their funding really only comes from families who are affected by Rett Syndrome and their network. It's such an underfunded thing with such huge positivity. If you dive in and actually read about Rett Syndrome, it's very, very high profile in the science community because it's a single gene mutation, it has been reversed in mice, and there's just different avenues of hope. When we hear that it's therapeutic for us. I mean, sure Brynn is a very, very happy kid, she's happy and healthy other than Rett Syndrome, but she needs us for everything. She is not potty trained, she needs us to dress her every day, and she need us to feed her every day. We try to do everything normally, of course, that brings challenges but our hope for Brynn is that one day she's freed from Rett. Shawn always makes a joke that we are not scientists, we did not go to school for biology, we both went for marketing. so, throwing a fundraiser and having some cocktails is right up your alley, as you know. We've been pretty successful. I feel like we're not the most successful fundraisers on the planet, but we do it with heart, and we feel blessed that we have so many, we call them Brynn's believers, because our tagline is believe in Brynn. She has so many people on her side that our end goal would be to cure her in some way.
Karen Ortman 35:34
Sure. How common is Rett Syndrome.
Shawn Connor 35:38
So, it is a rare disease. But there are an estimated 350,000 cases of Rett Syndrome worldwide.
Karen Ortman 35:48
Shawn Connor 35:49
It happens about one in every 10,000. Again, Rett Syndrome isn't something that you can get, you can't catch Rett Syndrome. So for your listeners, it's not like you're gonna be six or thirty and get Rett Syndrome. With Rett Syndrome, it's happens in one in every 10,000 female births., and actually, if you boil that down it's basically every 90 minutes, another girl with Rett is born. In the span of the day, it comes out to 16 girls a day across the world with Rett Syndrome, and if you extrapolate that out, it's about 5800 girls a year are born with Rett.
Karen Ortman 36:31
Is it possible to have multiple children in the same family diagnosed with Rett?
Shawn Connor 36:35
It's it is possible. We actually know of a couple cases of twins, twin girls and both girls have Rett Syndrome. We also know a family who has twins and it's a boy and a girl and the boy is quote/unquote typical and the girl has Rett. Kristen and I mentioned earlier how Rett is not hereditary or genetic, it's called random mutation, less than 1% of the cases of Rett Syndrome are actually linked to genetics. But again, it's less than 1%.
Kristen Connor 37:12
So, this is what we know, and don't quote us because we're not scientists, but the twins that we know that both are affected with Rett Syndrome are identical twins.
Karen Ortman 37:21
Kristen Connor 37:22
There's actually a local family who we know and they are both twin girls, but they are fraternal, one affected one not. I think it goes along the lines of that, if you're an identical twin, your genetics are the same, but it's so rare that we don't even know the details because, with Brynn, she's obviously not a twin and it's hard enough.
Karen Ortman 37:52
This is a hard question to asked, but I'm going to ask it anyway because, I think it's important to ask and be answered. What is the life expectancy for a child with Rett Syndrome?
Shawn Connor 38:07
That's a fair question. The life expectancy of girls with Rett is the mid-40s and 50s, that's what they think right now, but then but Rett is a relatively new disease. Rett Syndrome wasn't discovered until 1966 by an Austrian doctor by the name of Andreas Rett. As we all know, 1966 was pre-internet, pre a lot of things. All of his journals were written in German and those journals weren't even transcribed to English until 1983, if you can believe it, which is 17 years for anyone to transcribe it to English. So, it hasn't really been around in America. It hasn't really been common in America until 1983, which is only 37 years so, long story shorter, they're still kind of developing. They're still figuring out.
Kristen Connor 39:07
Yeah, and I don't think girls like die from Rett Syndrome. Like I mentioned before, they're things like pneumonia, is something that a lot of girls with Rett Syndrome...
Karen Ortman 39:19
Kristen Connor 39:20
Yeah, complications they seem to have. It will be like a complication of Rett, so like maybe pneumonia, but one of the first families we met, their daughter is actually my age, their daughter with Rett Syndrome.
Karen Ortman 39:31
Can I ask?
Kristen Connor 39:32
...and my birthday is March and her birthday is March.
Karen Ortman 39:35
Kristen Connor 39:35
And then there was a girl, there's like a Facebook family page, and just this week someone said Happy Birthday to my 59 year old daughter. So she has Rett Syndrome and she's 59 so, I don't think Brynn's life expectancy would be like crazy affected by Rett, it will be the complications. They don't have a clear answer because girls pretty much are healthy, they're just trapped. That's actually how people describe it. Brynn is a typical nine-year-old trapped in her body.
Karen Ortman 40:17
So let's talk about Believe in Brynn, that's typically how you market your fundraiser?
Shawn Connor 40:22
Karen Ortman 40:24
Okay. And you've already said you've raised almost half a million for Rett Syndrome research.
Shawn Connor 40:33
Karen Ortman 40:33
But you also, were able to meet a celebrity.
Shawn Connor 40:37
Karen Ortman 40:38
So we need to hear that story.
Kristen Connor 40:40
Okay, so this is just one of those things that the stars were aligned and Brynn's big sister Taryn is just one of those big hearted, caring people, I mean, Brynn's blessed to have her. Brynn and Taryn and I always like to watch the Voice which is on NBC and Gwen Stafani is on that show. She always happened to pick girls and female singers and she would always use the tagline Girl Power for her team. So, Taryn one day came up to me and said, mom, I decided to write a letter to Gwen Stefani. My girls only know Gwen Stafani from the show, it's not like they're super fans or anything like that, and I said, oh, really, honey, and she says, because we always say Girl Power for Brynn, and Rett Syndrome, and it's a very strong female disorder. I want her to be on Team Brynn. I said, that's sweet honey, and I said, can I post that on our Facebook page? We do have a page on Facebook and Instagram called Believe in Brynn. She said, no, I'm not really comfortable with that. I said, okay, well, let me know because I don't know her address. If I do Google her address, the odds of it actually getting her are very slim. Yeah. She said, okay, and about two weeks later, she says to me, mom, I think you can put this on Facebook that will be fine. So, I actually quickly had to, like, text my niece to see, how do I block out my cell phone number, because it actually said, Ppease call me, and I had my phone number. I, you know, kind of scribble that out and I posted it on our Facebook page at about 2pm and...
Shawn Connor 42:24
It was the summer, it was I think it was June. I think it was like a Thursday afternoon in June.
Kristen Connor 42:29
Yeah. And I actually got a phone call for the local news to come to our house that evening by four o'clock.
Shawn Connor 42:37
Tyron had written this letter, super sweet. One page on loose leaf with a pencil.
Karen Ortman 42:44
And what did the letter basically say?
Shawn Connor 42:47
It basically said, hi, my name is Taryn, I would like to introduce you to my five-year-old sister Brynn - I think Taryn was seven at the time - my five-year-old sister, Bryn who suffers from Rett Syndrome. Rett Syndrome is an all-girl disease, we think you'd be a great addition to Team Brynn. If you'd like to reach out and learn more call us, and it said, like gave our cell phone number. Then it said like, love Taryn. At the bottom of the message it said, PS we also have a Facebook page called Believe in Brynn and like. She was writing all big, she was seven or eight. So, I'm at work and all of a sudden Kristen calls me and says, oh, I posted the letter today and we already have like 50 shares, like in an hour or some crazy thing. Then Kristen calls me back like 20 minutes later and says Fox 29 just called and they come to our house.
Kristen Connor 43:44
I think the one thing, we thought of a hash tag and it was called #GwenGiveBrynnaVoice. And it was twofold because Glenn's on the voice and Brynn doesn't speak...
Karen Ortman 43:55
That's cool. Yeah. So she needed needs a voice. I mean, it was a fun story, something that you cannot recreate because it was the heart of a seven-year-old.
Shawn Connor 44:05
Right. Kristin posted it on Facebook and she wrote, kind of like, tongue in cheek, hey Taryn wrote this letter to Gwen Stefani. If anyone knows how to get it to her, we'd love for her to read it. I mean, slightly serious, but mostly joking.
Karen Ortman 44:21
And not expecting a response.
Shawn Connor 44:22
You know, it's like the six degrees of separation. All of a sudden, we started getting people back channeling us, being like, my sister's neighbor grew up with Gwen's publicist. Like all kinds of crazy, seven relations down. Like people saying, we know we can get this to Gwen somehow. It took only like two weeks, 14 days. We started getting emails like Gwen's aware of the letter and she's gonna reach out. Eventually her management team did reach out.
Karen Ortman 44:50
And what happened?
Shawn Connor 44:54
So they set up a FaceTime for us. The original letter, we posted in in June, this was probably August, and it was the year that Gwen had released her Christmas CD, so what year was that, like 2016?
Kristen Connor 45:12
So, when she FaceTimed us, it was a scheduled time. And it was her. I mean, her manager was present, but it was her and she was very, very sweet. She talked to Brynn about what she liked, she talked to Taryn. It was very sweet. We have a video, she spent about 20 minutes.
Shawn Connor 45:30
While they were FaceTiming with the girls, actually the girls were in the same dining room, the same room we're in right now, and during the call, at the end of the call she asked us if we'd be able to get to New York. We were like, yeah, absolutely. She invited us, that was the year she had launched her Christmas CD, and she invited us that year she was performing at the Rockefeller tree lighting ceremony in New York City. She was pre-taping her performance on the Monday of Thanksgiving week at one of the buildings in Rockefeller Center on the rooftop deck. We were invited up to New York to be her guests and before her performance, we got a 15-minute meet and greet with her. She took pictures with Taryn, she took pictures with Taryn and Brynn which was awesome. When we got to go to her sound check and it was literally us, the five of us and there was a woman, I think she was from Canada, her and her husband or boyfriend who had won some kind of Revlon contest. It was the seven of us on the rooftop deck watching for like four songs, and then they brought up all the crowd and even the crowd was only like 200 people. We were in the third row on the roof. We got to watch her actual live performance. It was a great experience.
Karen Ortman 46:50
I also understand that Brynn is an honorary captain of a particular field hockey team.
Shawn Connor 47:01
She is, so Kristen and I went to college with a girl, at the time, her maiden name was Colleen Quinn now her married her name is Colleen Fink. Fast forward, Colleen Quinn or Coleen Fink, at this point, is touched by Brynn's story. She's a field hockey coach at University of Pennsylvania, she believes in girl power, she has a son the same age as Brynn. Again, she's just touched by a Brynn's story. So, Coleen Quinn reaches out to us and invites Brynn to become an honorary member of the University of Pennsylvania field hockey team, which we absolutely accepted.
Karen Ortman 47:40
That is so wonderful. And how did Brynn feel about that, was she excited?
Shawn Connor 47:44
She was excited and Taryn likes being a part of the team. This was probably about four years ago, and it was right before Easter. We went down and we met the team in front of the Palestra, which is a famous arena on Penn's campus. The team, there was about 16 to 18 girls in the team, and they gave all three of our children Easter baskets. They met Brynn and they spent time with Brynn. They read stories to all three of our kids. Since that day, we go to as many games as we can. We go a couple practices a year.
Karen Ortman 48:23
And Brynn is still a captain?
Shawn Connor 48:25
Karen Ortman 48:26
And does she go out on the field, like before games?
Shawn Connor 48:31
She goes out on the field at least one game a year. Yeah, she accompanies the field out, and that game, the field hockey team raises money for Rett Syndrome awareness.
Karen Ortman 48:39
Shawn Connor 48:41
The girls all come out that game and they're all wearing purple headbands, because purple is the official color of Rett Syndrome. It's also Brynn's favorite color. They wear purple shirts; they wore shirts that say believe in Brynn all night. It's been a great partnership. I think the girls get something out of it, and I know that Brynn and our family definitely get something out of it. Also, when we have our event, we usually typically need, say 10 to 12 volunteers, and the last couple years, unless there has been a game conflict, that Penn field hockey team has come and volunteered to help our event.
Karen Ortman 49:14
That's so special.
Shawn Connor 49:14
Which is an amazing thing.
Karen Ortman 49:16
Let me ask you, where do you see Brynn and 5 or 10 years?
Shawn Connor 49:25
We see Brynn in a better place than she's in right now is the answer. We're very hopeful for a cure for Rett Syndrome, but if there is not a cure we're at least expecting in the next five to ten years that there's going to be serious symptomatic improvements. Kristen, kind of, mentioned it earlier but Rett Syndrome in the general public is extremely low profile. Most people that we speak to have never heard of it, but when you go into the medical field and the research community, it's actually extremely high profile. Kristen kind of touched on that earlier. There's three real facts that drive the high profile nests of the of the medical community, and it's that Rett is a single gene disorder, and that the cause of Rett Syndrome is known. Rhett was linked in 1999, to genetic mutations in the MECP2, which means that the researchers have a target, they know what causes Rett and they're actively trying to fix it. Second is that Rett Syndrome is not neurodegenerative, which means that the brain cells don't die, they don't work properly, but they don't die. Three, in 1999, this is the most important fact, is that in 1999, researchers developed a way to reverse Rett, so they were able to genetically alter mice to give them Rett Syndrome. They took healthy mice who are walking around the cage, they gave them Rett, the mice stopped walking, then they reversed Rett and mice went back to walk.
Karen Ortman 51:04
Shawn Connor 51:04
Which means that proves, in theory, that Rett is reversible. So, when you take those three things together, it screams out that Rett is reversible. Actually, right now, the organization that we partnered with, the Rett Syndrome Research Trust, they're funding six different ways they think are going to be able to potentially reverse Rett. The most promising is gene therapy, and we're hopeful that we're less than two years away from the first human clinical trial for gene therapy on Rett syndrome.
Kristen Connor 51:29
And just to put it in perspective for your listeners, you take something like autism or cancer, which most people listening are probably affected by one of those two things, both are things that no one can tell you what causes those things, right? So imagine, you have someone that you love with autism, and they say, wow, we figured it out today, this is what causes it. Now we just need to figure out how to fix it. That's where we are with Rett Syndrome. So...
Shawn Connor 52:09
We're 21 years past that point.
Kristen Connor 52:12
Right. But, we are hopeful that things can change in Brynn's lifetime. Five to 10 years would be amazing, but we don't know how long it's gonna take. Until then, Brynn lives a happy life, we include her in everything that we do, she's got a lot of support. It's just the limitations we want to free her from.
Shawn Connor 52:37
Brynn, as I mentioned earlier, Brynn enjoys the wind in her face and besides therapeutic horseback riding, she's done parasailing, she's done simulated skydiving at I-Fly, she's done adaptive skiing in the snow. This summer, got her out and we did water tubing where a boat pulled her on a tube. So we try everything we can to get her doing the same activities that her siblings are doing, within reason.
Karen Ortman 53:08
Yeah. Does she socialize with other kids who have Rett Syndrome?
Shawn Connor 53:14
Brynn, I mentioned Bren school earlier, Brynn attends a multi-disability school that's located in a neighboring town of ours. This program probably has 200 students? It's a program that starts in preschool and you can actually go all the way to 21 in the program. There's four other, at least that we know, there's four other girls with Rett in her school.
Karen Ortman 53:36
Shawn Connor 53:37
When Brynn started in the program, she was the only one. Since then three other girls who have Rett joined the program.
Kristen Connor 53:45
I think one of the one of the hardest things is that, in a non-pandemic world, our other two kids have playdates and they go to friends’ houses. Brynn doesn't really get invited over to friends’ houses, I can't just drop her off. But, we're lucky enough to have a lot of families in our friend community that include Brynn and socialize with Brynn when we take her places and stuff like that. She gets invited to birthday parties, it's not necessarily from people with Rett Syndrome, it might be a typical girl or someone that is at our school that might have a different disability. She's not invited to like a party every month, but it's still nice when she's included. I think that's one of our main things, we want people to treat and include Brynn like they do any other kid.
Karen Ortman 54:33
Is there anything that I haven't asked you that you would like to share at this time?
Kristen Connor 54:41
Thank you for having us, obviously. I think that we always try to remind people of our journey, that we are positive now, I think with time comes a little bit of acceptance, but we're not accepting it as her life, fate which is why we fight so hard. Day to day life, really is, once you get used to the needs of Brynn, it's not bad. People always ask us like, oh, you have to lift her from there to there, but, we just do it.
Karen Ortman 55:14
Shawn Connor 55:16
It's our normal, and our normal is different than other people's normal, but this has been our life now.
Kristen Connor 55:23
It takes work. I mean, of course, it takes work, especially now that we're in the middle of a pandemic. You know, I'm homeschooling, I'm being a therapist, I'm feeding her, I'm dressing her, so it definitely takes a toll. We don't want to hide the fact that it's hard. But, at the same time, we want people to know that we stay positive because we do have hope for our future.
Karen Ortman 55:43
And she brings you joy, and I'm sure you bring joy to her.
Kristen Connor 55:47
She's the most positive, patient, gorgeous, girl. I mean with all her adversities, she does it with a smile, she really does. I tell her all the time how patient she is because like she's just smiling 90% of the time.
Shawn Connor 56:03
See, that's the one thing I would I would actually point out, is that when you hear the definition of Rett, or you hear all of the side effects of Rett that go with it, so being nonverbal, being non walking, not having preferable hand use, your listeners probably are driving in a car or walking down the street and the picture they have in their head,it is scary. Rett Syndrome is scary, but if you were to follow our page or look up Believe in Brynn and see the pictures of Brynn, see how beautiful she is, and how happy she is in the life that she leads, it's not the picture they have in their head when hearing what Rett Syndrome is. It wouldn't match up when they see the reality of what Brynn has. Brynn, you know, Kristen always says that Brynn has a gift and that she's able to connect with people even though she's nonverbal. She's able to speak with her eyes.
Karen Ortman 56:58
Shawn Connor 56:59
She's able to actually, people who give her a chance, she's actually able to connect with and draw them in.
Karen Ortman 57:07
I agree. She's absolutely beautiful and I have seen the picture, thank you. I have checked out your page and I recommend anybody who has an interest in learning about Rett Syndrome to do the same. Thank you to my guests, Sean and Kristen, and to all of our listeners for joining us for today's episode of You Matter if any information presented was triggering or disturbing, please feel free to contact the Wellness Exchange at 212-443-9999 or NYU's Department of Public Safety and their Victim Services Unit at 212-998-2222. Please share, like, and subscribe to You Matter on Apple Podcasts, Google Play, Tune in or Spotify.