57: Parenting a child with KAT6A | Audrey Conley

Mothers of Misfits Podcast Episode 57

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Summary:

Audrey and her husband knew something was different about their son moments after his birth. But it took 10 years to get an accurate diagnosis. Join Audrey and Emily as they speak openly about the challenges of raising a child with a rare genetic condition.

Quotes:
  • “I’m not meaning this in a negative connotation, but just to explain to people out there, I feel like I am with a perpetual baby, because I have to literally get him out of bed, help him go to the bathroom if he will go, feed him, dress him, get him ready for his day, brush his teeth for him, wipe his face off. I’ve been doing this for 13 years now, and some days are easier than others. Some days I can fly right through it and not think about it. And other days it’s just a little bit of a pity party for myself.” – Audrey Conley
  • “We’ve lost a lot of friendships, and I don’t blame people for not wanting to be a part of our world. That’s a hard reality. You lose a lot of friendships, but at the same time, you gain some of the most special people in the world.” – Audrey Conley
  • “You got to seek out other people. There are other people like yourself that are in your situations, even though you feel very alone. Find your tribe, because that’s what we call it these days, right? Our tribe.” – Audrey Conley
Highlights:
  • 1:13 – KAT6A
  • 8:18 – Navigating the diagnosis
  • 10:49 – Finding a solution
  • 12:41 – A day in the life parenting a child with KAT6A
  • 13:36 – Dealing with the loneliness of special needs
  • 15:10 – Finding a community
  • 17:32 – Preserving your marriage while parenting special needs
View Full Transcript

[00:00:00] Mothers of Misfits: Welcome to the Mothers of Misfits podcast. Join me for conversations about how to advocate for our kids in a one size fits all world. Be sure to subscribe, so you never miss an episode.

[00:00:17] Emily Melious: Welcome back, everybody. I am glad you are here for another episode of Mothers of Misfits. This is fun today because Audrey and I are actually in person. I don’t hardly remember the last one I’ve actually gotten to do in person, because either we have guests that are all over the world, or of course with COVID this has been difficult to do, but this is so fun because we’re actually sitting across the table from each other.

[00:00:43] But let me tell you a little bit about Audrey. Audrey Conley is the creative mother of two incredibly purposeful children, and wife of a tech genius.  She stays focused on staying focused. I love that, and creating ongoing memories and successes. Audrey, thank you for coming on today and literally coming over today, we’re neighbors.

[00:01:04] Audrey Conley: Yes, we practically are. This is such a treat.

[00:01:07] Emily Melious: I probably sound like a broken record, but it’s true every time. We’re going to have another amazing conversation. And we’re going to talk a lot about your son Pierce today, who is 13.

[00:01:18] And I had the pleasure of meeting Willow, your daughter, who is very close to 15, so happy early birthday Willow. But tell us about your kids.

[00:01:27] Audrey Conley: Okay. So, like you said, my son Pierce, he is 13 and a half, and he was born with a genetic condition. I don’t like to call it a disease, I feel like it has a negative connotation.

[00:01:40] So I like to call it a genetic condition called KAT6A. And that is where, when he was being formed in my womb, his 6A gene mutated. So, that created a lot of unusual things.   And it’s not necessarily genetic, it’s what they call nouveau, which means it randomly happened. Just like a child with down syndrome that was born with an extra chromosome.

[00:02:06] That’s something random that happened, so we don’t know why, but we definitely feel like we were kind of chosen for this journey with Pierce.  So he was born August 13th,  2007.

[00:02:18] Emily Melious: That’s my birthday! Pierce and I have the same birthday, I knew I loved him for so many things, but there now we’re birthday buddies. Awesome, so 2007, and was he full term?

[00:02:33] Audrey Conley: He was full term, and I was induced, so probably the most interesting part is when he was born, I knew immediately by the nurse huddling over his little bed across the room from me, and she’s just kind of looking at him and she’s whispering to the person next to her. And she keeps putting those little hats on top of him. Like, she must have put three hats on him, and I’m looking over and thinking, what is going on over there?

[00:02:57] And I’m like, is everything okay? And she’s like oh yes, everything’s fine. And she keeps whispering and I’m like, hmm, everything’s not okay. So the pediatrician comes in about an hour later, you know, I get to hold him and I’m like,  this is weird, why did she put three hats? I think she did say, oh, he’s just trying to get his bearings. Like he’s, you know, he’s okay. We’re just trying to settle him down, he was  crying a little bit. So, held him, you know, I was like this is so nice. And then the pediatrician came in to do his evaluation.

[00:03:27] And I will never forget the look on the pediatrician’s face.  It was just this, deer in the headlights look. And he just came over to me and said, we need to call neurology. We need to get some testing done. I think I see some things here, let’s just do that.

[00:03:44] She also said, the testicles apparently had not dropped. So they said right away they’re like, we need to find them, we need to have surgery, we need to bring them down. So from there, my husband and I were like, what is going on? It’s just felt very bizarre. Bizarre day.

[00:04:00] Emily Melious: Because you had no indication of his condition before his birth?

[00:04:04] Audrey Conley: Correct. Correct, and I was over 35, so I did have the one test done, which I believe checks for down syndrome, and we were good with that. Everything looked great. So, then a nurse comes back to us and says, we had that test done, we were looking for his testicles, the doctor can’t seem to find them the one that did the ultrasound. We want you to hold off on naming your baby, because we’re not sure if he’s really a boy. Like he physically had all the body parts. And in my mind, I’m like, this is ridiculous. He’s definitely a boy.

[00:04:38] So they said we want to do a blood test, the X Y chromosome tests. We need to send it out, we don’t do it at the hospital here, and you’re going to need you to wait 24 hours till we get those results. So talk about being in some kind of a weird, my husband and I were just like, is this some kind of a bad dream? Like what is going on?

[00:04:55] Emily Melious: Yeah, like the Twilight Zone, cause you just went through, I’m listening to you say, he’s getting his bearings, neurology, we’re not even sure he’s a certain gender. And this is all happening within 24 hours, or a shorter time period. I cannot even imagine just handling one of those emotionally, mentally would be huge, but that had to feel like, over here, now over there, now over here. I mean, how did you and your husband just deal with processing all of this information? Or maybe you were in a bit of almost denial in that stage? Maybe your body might’ve been protecting you somewhat from going down all those rabbit holes.

[00:05:31] Audrey Conley: Yeah, I think you’re exactly right. I think our minds didn’t want to go there. We were just experienced the birth of our son, and we were both very excited about it. We knew we were going to be finished with two children. So we were kind of like, okay, we’re kind of done with this part of our lives.

[00:05:44] We’re both older parents per se for having children. So in our minds, this day was kind of like yes, we’re going to move on now. So yeah, I definitely believe we were probably in some shock, but we were also trying to protect our minds where our future was going to go. Little did we know that we would be dealing with his global delays for years and years and we still do. And did not have a diagnosis until he was 10 years old.

[00:06:09] Emily Melious: Oh my goodness. Okay, so fill in the gap between a day in the hospital and 10 years old, because we should also share with everyone listening he has something that I would say is extremely rare. Is that fair to say? So how rare is the condition that he has?

[00:06:26] Audrey Conley:  Yes. So KAT6A at this point, this very moment, we’re looking at probably about 311 individuals, because I will say they’re not just all children, worldwide, not just in the United States, with KAT6A.  And this gene chromosome was discovered in 2012 by a doctor in California.

[00:06:47] Emily Melious: Oh, so he was five when it got  discovered.

[00:06:51] Audrey Conley: Yeah, so actually it’s because of a test that has come out in genetics, is amazing. I will just say the whole medical field just totally amazes me. Totally amazes me.   There’s a test that is called exome sequencing.

[00:07:08] So, we were approved through insurance. At least a few years ago when we had our son tested, this test costs thousands and thousands of dollars. So just a short synopsis of what they do is they look at every single gene in the body, and they look at it like a sentence. Like, Jane walked down the road.

[00:07:31] So they look at the sentence as a whole. Jane walked down the road. Okay, everything looks fine, no misspelled words. And then, like you’re taking apart the words. Jane, oh, we’re going to look at those chromosomes. Jane looks fine. And then walked. Does that look fine? So every time they’re  sort of zooming in on the word, the letter, that’s another avenue they’re going down in and costs more money.

[00:07:57] So they don’t know how many times they’re going to have to keep turning over and over. Thankfully, they found it in a reasonable time. So I think we had to wait up to three to six months. They said we would not get any answers from genetics,  depending on how far they had to go to look in the genes. So that’s how we got the diagnosis.

[00:08:18] Emily Melious: And how did you even know to pursue that? Because this was very new on the scene, and I’m sure there’s not a ton of communities or research or resources on this, because it’s so rare. Although I wanna to talk about that, I know you have found a great group of folks who are really in your camp on this and have become like family, I think. So I want to get to that, but how did you even know to have peers tested for this?

[00:08:42] Audrey Conley: So I would have to say my pediatrician right away said, I think you need to go to genetics and neurology, was our two first stops at children’s hospital. And from there, I think we visited almost every department within probably the first three months of his life.   So at genetics at that time 13 years ago, only had a handful of tests they could offer us. And they told us, so they tested for Angelman syndrome, which has been around a while, and a couple other.   Danny Walker syndrome, a few others, I can’t remember.

[00:09:18] And they said, well, you need to check back in with us in a couple of years, we may have more tests to offer.  So we’re talking first five years of my son’s life is a blur.   We went from having birth to three, we had in-home therapy, all the time almost every day. I believe at one time we had eight therapists coming in the house in and out.

[00:09:40] I just felt like it was grand central station. The cute thing is my daughter thought they were coming to see her as well. They were coming to play games with her as well. You know, she’d ask, when’s so-and-so going to be here, I’m gonna play with them today, and I’m like, oh honey. So that was the first five years was a lot of therapists, a lot of tests, evaluations.

[00:10:00] He had a lot of digestive issues, was a big issue with him and kids with KAT6A, they have a lot of reflux. They have a lot of them low motility, which means they need help processing, digesting food, having regular BMs and regular, things like that. So basically before he got his diagnosis too, I was up with him four to five nights a week because we were trying to figure out, is he allergic to food? Is he lactose intolerant? What is going on? He’s always upset. We were able to get him on some medications that made  life somewhat livable, I guess. But probably for 10 years, I lived like I was raising a newborn.   

[00:10:49] Emily Melious: And to add an extra layer for those listening, he couldn’t express himself very well about the pain that he’s going through because he’s, non-verbal.

[00:10:58] Audrey Conley: Correct. So Pierce is nonverbal and continues to be non-verbal.

[00:11:02] So, as my son turns two, he’s still not talking, so a speech therapist came in the house one day and my husband was actually just laid off. Sitting at home kind of feeling bad for himself, watching the therapist come in and out. And he sees my son using this big button and he’s like, are you kidding me? Are you telling me there’s no other technology besides this? And that is on the cusp of the iPad, the iPhone, all that stuff. And so proud of him. He’s like, I’m going to make something better. I’m going to read up on this, I’m going to create something. And he did, he taught himself how to program an iOS and creating an app on iTunes, and the heart that he has he said, let’s give it away for free. And I’m like honey, we’re unemployed. How are we paying the mortgage this month? But I guess you become very creative as a parent with a misfit. So I was just thinking about that this morning as I’m getting him dressed, and he’s 13 years old, he’s 75 pounds.

[00:12:08] It’s just like, and I’m not meaning this in a negative connotation, but just to explain to people out there that I feel like I am with a perpetual baby, because I have to literally get him out of bed, help him go to the bathroom if he will go, feed him, dress him, get him ready for his day, brush his teeth for him, wipe his face off. I’ve been doing this for 13 years now, and some days are easier than others. Some days I can fly right  through it and not think about it. And other days it’s just a little bit of a pity party for myself,

[00:12:41] Emily Melious: Yeah. So what do you do once he’s ready? He does go to school, right?

[00:12:45] Audrey Conley: Yes. So it’s called an approved private school, where he gets all his services. The people are just so delightful and I have to share a story that just sticks in my mind. I am walking him into school and a lady sees us in the hallway and says, oh Pierce, I am so happy to see you today.

[00:13:04] I look so forward to seeing you every single day, you make me smile, you just make my day. I’m so glad I do what I do.   I was trying to hold back the tears because this woman had no idea, the night I had just been through with him. And, thank you for saying that. Thank you for appreciating him.

[00:13:23] And I even felt appreciated. I felt like, wow, I have a child that serves a purpose to other people. And those are little nuggets that you keep in your heart, that you keep on the hard days.

[00:13:36] Emily Melious: You’ve shared with me that being the parent of a special needs child is very lonely at times. And it might be more difficult to have those meaningful friendships. How do you deal with that?

[00:13:48] Audrey Conley: Well, I have to say that one thing that God knew when he was doing this was that, my husband and I are both sort of introverts. And we had this conversation with my daughter the other day because she was given a test at youth group about her personality. And she, you know, of course probably said, I’m an introvert too mom. Why would I not be? My mom and dad are introverts. So that sort of actually helps the situation because if you’re a very outgoing person, I guess, you know, maybe you would be talking to your nonverbal child a lot more, which also is very difficult for me that I had to switch up because, I needed to talk to my son as soon as he gets up in the morning.

[00:14:29] I needed him to know because, you know, I don’t know if he knows or not like, hey, it’s Wednesday. Hey, it’s Thursday, you get to swim today at school, did you know that? We’re going to go have some breakfast now, we’re going to get you dressed and you’re going to school. So I’ve had to learn how to…

[00:14:44] Emily Melious: Narrate your day, essentially.

[00:14:47] Audrey Conley: Yes, yes. Which is very tiresome for an introverted person. So that’s something I’ve had to learn. We’ve lost a lot of friendships, and I don’t blame people for not wanting to be a part of our world. That’s a hard reality. You lose a lot of friendships, but at the same time, you gain some of the most special people in the world.

[00:15:10] Emily Melious: Yeah, are you talking about your Facebook group? So tell us more about that, and for those out there that might have a child or someone in their life that has a similar condition to Pierce, if you don’t already know about this group, you should check into it.

[00:15:22] Audrey Conley: Yeah. So the day we found the diagnosis out, and I believe it was May of 2019,  you remember the day that you get that call and they say, we found out what your son has.

[00:15:37] And it’s funny with today’s technology and everything that the first thing you do is head to your computer, and you type that in, and you just start looking for any information you can find.  So I found our KAT6A has a foundation already set up. I was so impressed, a website, a Facebook group. They even started meeting. So I found out in May, they had met that February, before that was their first ever gathering. Families at John Hopkins and Baltimore, they started this yearly group with a couple of doctors on board and would discuss what it meant to have  KAT6A, the difficulties, brainstorming ideas, just camaraderie, getting to know their families across the country and across the world.

[00:16:27] It is a great feeling to feel part of a group. So we got to experience that the following year in February, we headed right down there to Maryland and got to meet some people face to face. Got to meet the doctor. I have to give him a shout out, his name is Dr. Richard Kelly. He continues to do research on this genetic condition. He’s been very helpful to parents. He’s basically just given his life to us. He’s so open and helping and welcoming. He will give you his own email, you can email him, you can ask questions. We have parents in the group that a couple of them are doctors that have a son with the condition as well.

[00:17:10] This is what you gotta do. You got to seek out other people. There are other people like yourself that are in your situations, even though you feel very alone, find your tribe, because that’s what we call it these days, right? Our tribe.

[00:17:24] Emily Melious:  Yeah, our tribe. And that’s encouraging because they get it and you don’t have to  yourself to them, and  you know, they’re supportive a hundred  percent. I do want to ask you how you protected your marriage  through all of this. We don’t get to talk about that as often on the podcast, but you’re so kind to be totally open and honest and I can only imagine the stressor that this puts on that relationship.

[00:17:50] Audrey Conley: That’s for sure. And we definitely have a lot of odds against us. Families, marriages that have a child with special needs, I believe the divorce rate is 75-85% end up in divorce.  And  unfortunately, usually it’s the dad that can’t take the stress.

[00:18:08] So I’m so grateful for my husband, but just how do we get through it? We share a faith together that is definitely the cornerstone to our marriage. We know that we’re committed to each other no matter what, but we also spend time together. Out on a date, even if we have to connect in the morning over a cup of coffee, or we found Netflix series that we will find and watch together if we have an hour or so in the evening or on a Friday night or our kids are out doing something, you know, it doesn’t happen all the time, but that’s our little time together.

[00:18:42] I have to mention the sex word because it’s, true. Definitely the glue that helps also keep the marriage intact. But definitely time together, listening to each other, giving each other just a pass. Even if you’re both having a bad day or one of you is having a bad day, just don’t argue about that. Like there are just so many bigger things in life. So what, so they didn’t put the cap back on the toothpaste or they forgot to put the loaf of bread back in the drawer. Like, we’re just going to let that go. We’re not going to let that get in between us. Be honest, be open. I’ve had to learn over the last few years, I need to take better care of myself. I need to take time for myself and I felt that that was being very selfish and now I’m learning otherwise that yeah, it’s okay. You can go take a walk by yourself. You don’t have to take your children with you. You can go to the gym by yourself, you can take a shower every day, you can go get a pedicure, you can go see a therapist. You can go have a cup of coffee with a friend in the morning, it doesn’t take that long. And you can make excuses for yourself. I had a couple of friends or friends that have children with different disabilities and they’re like, I don’t have time for that, I don’t have time for that. Like, I’m thinking, well, if you were diagnosed with cancer and somebody said you need to go get cancer treatments, would you say I don’t have time for that?

[00:20:02] Emily Melious: Right, you make time for what needs to happen. Sadly, especially moms just don’t feel they have the ability or don’t believe that they are the priority.

[00:20:13] Audrey Conley: Yes, exactly. And, talking about making time for my husband, but making time for the other children in the family.

[00:20:19] Emily Melious: Yeah, so let’s quickly touch on that because I know we had, gosh, we could talk for days, then maybe we’ll do a part two, everybody let us know if you want to have Audrey back, but I knew I sure do. But how do you make sure that Willow’s feeling included? Clearly, pierce takes lots of your time and attention throughout the day, and I know she’s an old soul and I’m sure having Pierces as brother has caused her to be far more mature or aware of life, its joys and challenges, more so than other kids her age. How do you strike a balance between your relationship with Pierce and his needs, and your relationship with Willow, who is, you know, a full on teenager? Sorry, Willow, who may or may not listen to this. We’re probably not doing any favors, but you know, how do you manage that?

[00:21:07] Audrey Conley: Well, so like you said, Willow, she’s really a special girl and more of a mature soul. And I think that having a sibling with special needs, she’s kind of been primed for that with her personality. I think that she knows disappointment very well. I remember when he was younger, we had made so many plans, I used to be a planner. I’m not a planner anymore. I plan to go to the, let’s go to the museum today. Let’s go to the zoo today. We’re going to do this today. And many times, plans would get canceled or cut short, or you know what, your brother’s not feeling well, we can’t do that today.

[00:21:46] There were tears, there were lots of tears. She knows disappointment, that’s for sure. So as she’s getting older, I believe when she was 10, I saw some signs of anxiety. I took her to a child psychologist and the psychologist said, she fits your stresses. First of all, she feels your stress. She senses your stress taking care of Pierce.

[00:22:08] So that really opened my eyes. Oh my goodness, I certainly don’t want that for her. So she loves seeing her own personal therapist every week. She looks forward to it and I think that’s where she gets undivided attention with another adult. But I also take on the time of, we will go get pedicures together. We will go shopping together. Sometimes I will have my son watched outside of the house, so we’re alone in the house together to talk, to chat, to be alone together.    And this summer is going to be the first summer ever, we are going to take a vacation without Pierce.

[00:22:48] And this is really hard for all of us. We talked about it. We threw the idea around last summer, last spring, and I was surprised that my husband and my daughter were so upset about not taking Pierce. And I’m like, in some ways it was comforting to feel like, okay, well he’s really a part of this family.

[00:23:10] You just don’t know how, you know, you have a different perspective as a mom. Of course, he means a lot to you. So, we ended up not doing it last summer. We took him and as we were at the beach and we even got help. We got some good help there. We would get somebody to come a couple of days a week for a couple hours just so, you know, we could all go to the beach for a couple hours and at the end of the vacation, I was crying. I was thinking, we have to do this next year. Just, I still felt some resentment. I didn’t feel relaxed.  I thought wow, I’m going to be a different parent. If I go on vacation without him and I’m without him for a week, I know I will come back even better and I have to look at it that way. Like I’m going to come back so much more refreshed, happy, content and calm and he’ll be fine. He’s gonna be fine. I got some great help lined up and that’s another thing is I’m so grateful to special people in our lives.

[00:24:05] Emily Melious: I have so many other questions for you, but for today, we’ll wrap it up. Thank you again for literally coming over to my house, we are sitting at my dining room table. This has been phenomenal. And I know you really spoke to the heart of so many moms out there today, and who needed to hear exactly what you had to share. So thank you again for coming on.

[00:24:25] Mothers of Misfits: Thanks for joining us for this episode of the Mothers of Misfits podcast. Make sure to subscribe, so you never miss an episode. We also invite you to visit us at MothersOfMisfits.com.

Speakers:

Emily Melious

Emily Melious

Talent Management Consultant | Career Coach | Podcast Host

HOST
Audrey Conley

Audrey Conley

Mom | Artist | Job Developer

GUEST

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