Finding out I’m a genetic carrier for my son’s syndrome of CDPX1 was a very tough pill to swallow; and it has a whole slew of implications for my life.
It means I caused all of my son’s hugely challenging and life-threatening birth defects. And it also means that each of our children have a 50/50 chance of inheriting the unlucky genes.
Listen to find out what it was like to receive this life-changing news and what we’ve decided to do about it.
This is a rebroadcast of Ep. 22 of Season 2.
"I got pregnant the next day--Two weeks later, I had a positive pregnancy test. And that was really overwhelming."
Hey! You're listening to The Rare Life. I'm your host Madeline Cheney and I have a solo episode for you today. I am a genetic carrier for Kimball's syndrome, which basically translates over to me, that I am responsible for my son's birth defects--for his major and life-altering and life-threatening birth defects. And this is a topic that is very near and dear to my heart and it's kind of...it's all over my life. And it's a really big deal for our family and to me, very life changing in many ways. This is one of those really personal episodes where I share my heart.
So this story starts a long time ago. It starts with my parents. And I will get to the point, I promise. My parents were married and living in Laguna Beach, California. When I was born, I was number four of their children. And they were only halfway done with their family. They had eight children. Eight. I'm one of eight. I have four sisters and three brothers. And my mom had a lot of miscarriages. I didn't learn till I was older that having six miscarriages out of 14 pregnancies is very high. It's a lot. It's a lot of miscarriages. Later my sister ended up having five miscarriages and that's something that I kind of accepted as fate like, well, this is just a Holloway thing. I will have a lot of miscarriages that's what's gonna happen, which is accurate. I've had three. And this ties in. So other than the miscarriages, my family is very boring medically. There's nothing wrong. We were all very healthy. Or so I thought. It wasn't until after I'd been married and we had Wendy--a totally typical baby--when we had Kimball. And Fas I talked about in my preface episode, and in Episode 5, he has a lot medically, and when we found out that he had birth defects, that thrust me into a world that I didn't know I was already a part of. It thrust me into the world of faulty genetics. It threw me into the world of chondrodysplasia punctata x-linked, type one, or at least it revealed my part in it. And it felt like a totally random bout of terrible luck. Kimball is not bad luck. His body being formed the way it is, felt like bad luck. It felt like something that just happened out of the blue and I was like really young. I was 24 when I was pregnant with him. I'm not in the high risk factors at all for anything birth defects. And so taking care of Kimball, I felt like a martyr of sorts, because I was like This child has this body that is deformed, and he has so many more needs because of that, and he's suffering. And I felt a little victimized, I guess. And I loved him, obviously. But there was still a lot of that, like, "I'm taking care of him and I am so heroic for doing that. And he's so lucky to have me."
And that idea kind of got flipped on its head when Kimball was one and a half years old and we decided to have my genetics tested, because CDPX1 is either inherited from a parent--from their mother--or it happens as a random mutation. We had had many meetings before with the geneticists like when he told us Kimball's official diagnosis after he'd been born. And he had explained how it could be passed on, or it could be random. And he proceeded to ask us a bunch of questions about my family history. Because it's x-linked and recessive, it can only be passed from mother to child. So they were only concerned about my side. And my family, as I mentioned, is very run-of-the-mill healthy, medically boring. And I have three healthy brothers. And I also have about a dozen healthy nieces and nephews. So this was not looking very inherited, or at least from like, from my mother. And so he was like, "Well, there's a chance that started with you and then you passed it to Kimball. But it's probably just one of those random things that started with Kimball." And we were like, "Okay, yeah, that makes sense." And people would ask me like, "Well Kimball's condition, will it be passed on to other kids?" And I'd always be like, "Ah, I don't know. It doesn't seem like it, but I need to be tested still." So it was kind of one of those things that was put on the backburner, like, Oh, yeah, I should probably make sure. And to illustrate how far from my mind being a carrier was and how far fetched that seem, before I got tested, I was talking to my mom on the phone. I was like, "Mom, I feel kind of baby hungry." She was like, "Oh!", because, you know, I was way over my head with Kimball and with Wendy. And I was like, "I don't think I really, you know, I'm not ready to be pregnant and I don't--This seems like it's totally out of nowhere, but I think it's because Kimball's stuff is so overwhelming and so hard, and I'm so tired of it that. I just want a normal baby. I just want a child that doesn't need physical therapy and feeding therapy and deaf-blind services and, and, and. And I don't want endless appointments. I just want a typical baby." Because I'd had that with Wendy but of course I'd hadn't had that contrast yet. And I was like, "I just want a break, and I just want a baby to just have and have it be normal", because I'd watch other parents and think "They're so lucky, and they don't understand what they have." And it's not something I'm super proud of to be saying. I love Kimball and I feel kind of guilty admitting that, but that's what I was feeling. And so that's about where I was. I was so oblivious to the idea that I might be able to pass this on to future children and I was like, this is it. This is our one with this birth defect we will have healthy kids after this. That's where I was. And so we finally got the testing kit where it was just a little swab inside my cheek. And we put it in a vial and I sent it off to the genetics testing company. And I remember I was like, kind of like, "Oh, this makes me a little nervous. But I'm sure everything's fine. And it'll just be boring news. It'll be, 'Yeah, you're not a carrier.'" So I sent it in. And it was months after that--it was July when I sent it in, and it was October when we heard back. And it was supposed to be like three weeks, and I called back and they were like, "Oh, we don't have anything yet." And then she was checking his notes. And she said, "Okay, it says that if the results are negative, we're supposed to set up an appointment for you to come in and consult with us." And I was like, "What?" And she was like, "Yeah, I mean, that's just what that's just what it says." And I was like, "That doesn't make any sense. Why would we need to go talk to him if it's negative, like that seems like the opposite of what it would be. I thought I was supposed to go in and talk to him if I am a carrier, not if I'm not." So that was really weird. And she was like, "Yeah, that's just what it says." And I was like, "Okay." So a few months later, I called back again. And I was like, "Do you have results yet?" And they were like, "Oh, yes, we do. And we're instructed to make an appointment with you and your husband, with the geneticist." And I was like, I don't know what to think. Because that would normally seem like a really bad thing--to be called in for an appointment to go discuss things with your test results, because that cannot be good news. But in his doctor's notes it said for us to come in if it was negative. So that had us--we had no idea what to expect. We were like, "Well, according to his doctor's note, we should believe that I'm not a carrier. But logic says that I am, if we're going to talk to him."
So that was really weird. And we got a babysitter for our kids. And we went in. And I remember sitting out in the waiting room and just being really nervous, but like, You know, it's probably fine. I'm sure they're just gonna be like, yep, you're not a carrier. And I'm not sure what they would talk to me about after that, but that's what they said in the doctor's note. And they called us back. And our geneticists came in and was like, "Oh, hey! So you got the results, right?" And we were like, "No", and he was like, "Oh, I put in here for them to tell you the results before you came in." He was like, "Yeah, you're a carrier." And we just sat there in complete shock, and it sucked so bad. It was the worst. And he was really surprised. He was like, "With your medical history and your family history this doesn't make sense but you're a carrier!" And he explained the genetics of it of how I had the deletion in my, in one of my X chromosomes and that I gave that to Kimball. Because he only has one X, he has an X and a Y, so we had to use the faulty X. And so that's why he has CDPX1. And technically I have CDPX1. But females don't show any symptoms because we have two X's. And so my body chooses to use the healthy one. And so he was like, "You know, your son obviously has it, your daughter might have it, we don't know. (And we still don't know actually we haven't looked into that). And he explained that there were three choices we had as far as our future family. "You can either do nothing at all and just not have any more kids if you want to be guaranteed not to have this." He said, "You can do IVF where they go through the eggs and they find a healthy one that doesn't have the deletion. Or you could just do Russian Roulette and go ahead and have children and have the chance of having another child with CDPX1." And the way the genetics work, and statistically, that would mean that each of our future children would have a 50/50 chance of having it. And because technically, you have a 50/50 chance of having a boy or girl each time, that means that we have a 1/4 chance of having a child with symptoms--which would be a boy with symptoms. And I hated hearing our future listed out that way. Like you can do this really hard thing, or this really hard thing, or this really scary, hard thing.
And while he was talking, I immediately knew that IVF was not what we were going to do. And I think part of that is that I have a very dear, close friend who has fertility issues and has had to do several rounds of IVF to get their child. And I've been close enough to that situation to know that I really didn't want to do that. There's a lot of pain emotionally and physically, I was like, "I don't want to do that we've been through enough. I don't want to do that." And I just knew I knew that wasn't for us. And I will say too, while I have dear friends who have done IVF because of genetics, and that is totally understandable, and I think they're awesome for doing that, I just couldn't wrap my head around the idea that if we had done that before we had Kimball, they would have skipped over him because they go through the eggs and they find a healthy one that doesn't have the deletion. And I was like, I can't get past the idea that they would skip over Kimball. Because he, you know, he makes it real. He makes it personal. Like, he's my son. He's this person that I love. And so it's not just the, it's not just the genetic deletion. And so the idea that we could skip over another child that we love just as much as Kimball, I was like, I can't do that.
And so I threw IVF out the window. But then we were left with those two options of not having any more children or just taking a shot in the dark and having that risk of going through that whole thing again. And that was a terrible thing. I didn't know at that point. We were sitting in the office, I was like, I know we're not doing IVF, but I don't know which we're going to do. And he also said, "If you want, you can invite your mom to be tested too, because if you're a carrier, it also begs the question: Did you have it randomly at conception, or was that passed on to you from your mother? And then all your sisters would be on the table for having this (because my brothers would not have it because they're healthy. So we know they didn't get that X)." And that was crazy. I was like, Oh my goodness!
And so we left the office totally distraught, and totally defeated. My heart was just aching. And it was like when you are super sore from a workout and then you go work out on top of it. And it's like, Ah, this hurts so bad because it's already sore from the pain I had before. And I feel like my heart was just--it wasn't completely healed at all. It was still still really hurt from all the things that we'd been going through. And so to have this on top of it was just another break. And it was scary. Like, oh my goodness, we have this ultimatum like we can either not have any more children or have it chance of going through this again with another child. And I really I vividly remember walking out of the hospital. And I drove Juston down to work (his office was a couple blocks away). And I didn't want to leave. I was like, "Juston, this is terrible." And I was super emotional about it. I was like, "Fine! Then we just won't have more kids! Like, that's it. I can't do this again. I can't do this again. We're not having any more kids." But I started crying even harder. I realized I can't do that. Because my heart wasn't complete yet. It isn't complete yet. I just know. I know there's another child that we need in our family. And I kind of hate it. I still kind of hate that because I'm like, Oh, this would be so much easier if we could just say we're done. We'll be done. No one would blame us. But I can't do that because my heart aches for that other child. And so, we had to part ways, Juston had to go back to work and I drove myself home to the kids just crying and crying like, My life is so hard. Why is this following me? This is the worst thing ever. And later that day, as the day went on, you know, I had to pick myself up and take care of the kids, but I was still kind of in zombie-mode, which was very familiar to me because I've had many appointments, after which I'm totally heartbroken and in zombie-mode. And my heart began to take courage at: But I want this other child. And I was focusing on that. And I was like this other child, I will love just as much as Wendy and Kimball. And they're gonna be very special and I will love them very much. And they might have CDPX1 and they could die from it, because it is sometimes lethal.
So in the next episode, I interview another mom who whose son also has CDPX1. And in that interview, I found out that a third of the children with CDPX1 die in the first month. So that's also on the table. We could have this child, and then they could die. But that day, I wasn't focusing as much on the dying, I was focusing on the living and all the heartache and the hardship that that brings. But I kept thinking about that child and I kept feeling full of love for that child. And I was like, I'm gonna do it. I'm gonna do whatever it takes to get that child to our family. And it was kind of this like liberating like. "F you, CDPX1! I'm gonna do this anyway!" And that was actually really cool. That was like, thrilling, and terrifying and thrilling. And I remember like--and this is all in the same day. And I remember I talked to Juston, I told him how I felt and he was like, "Yeah, I'm on board."
And so The next day I was telling my best friend about it. I was like, "So I'm a carrier. So we have a one out of four chance of having a child with symptoms again, with birth defects like Kimball's. But we're still gonna have more kids." And I was even feeling the urge of like, We need to have that child as soon as possible. And that was really overwhelming. But that's what I was feeling in my heart. Where as the week before the appointment, a week prior to that, we were terrified that I would accidentally get pregnant. And yet here we were finding out I was a carrier, and I was feeling this, like, We need a baby, and we need to get pregnant right away. So I told my friend that and she was like, "You are so courageous!" I think it was a really nice way of saying, "You are insane!", which is true, but I really liked that she called me courageous. And I held that in my heart and I was like, "I am courageous!" Because fear would definitely come back and I'd be like, "What am I thinking?? This is insane." But I'd pull that back and say "I am courageous." And I think the thing that was drawing me to that child and that we would still go ahead, was love. It was when I would be holding Kimball close to me or Wendy, and I'd be feeling so much love for them. And I would feel that love for our next child and be like, I love that child too. And I want them in my family. And when I would feel the most courageous and still even now, because it's still scary.
And I got pregnant the next day. Two weeks later, I had a positive pregnancy test. And that was really overwhelming. Because we took the leap of faith. We were like, "Okay, let's have a baby!" And for me to get pregnant that quickly was really, really scary. And I was so overwhelmed. And I was like, oh, my goodness, I can't do this. And then a week later, I miscarried. And that was the weirdest miscarriage. I'd had one before Wendy. So I experienced it before. But the relief I felt mixed with the sadness was really bizarre. And I felt kind of guilty about that. But I think it totally makes sense. I was relieved, because I wasn't ready for that. That was too soon. And Kimball wouldn't have even been two yet when I would have had that baby.
And a couple months later, my mom did do the genetics testing. And I remember we were walking through our brand new house, it just been built, and we were doing an inspection for before we moved in, and my mom called me, and she was like, "Guess what? I'm a carrier." That was the craziest thing. That was probably the craziest thing other than finding out I was a carrier. I was like, "What? My mom is a carrier?" And I suddenly felt like this relief and this excitement of like, this isn't just my burden. This is my family's; just like blue eyes are a Holloway thing, CDPX1 is a Holloway thing. And I also felt fear and sadness, like for my sisters because then they all have the risk of having it, the 50/50 chance of having it and being a carrier. But I felt this excitement, and I feel kind of guilty admitting that. But I think it was just this feeling of like, there are other people in this room, I thought I was alone, and I was isolated. And now there were other people in here with me. And it was so sweet because my mom was like, "I'm so excited that I'm a carrier. That means that I can help you bear this and like you're not alone", and that was really sweet of her. And then a few months later after, each of my sisters sent in their little cheek swabs to the genetics testing. I have two younger sisters who are unmarried, two older sisters that are married and have children. And those two younger ones. I was like, Man, that would be heavy baggage. I have a 15 year old sister. I cannot imagine finding out about this horrific birth defect that my child might have at 15 years old. And one by one, my, both my younger sisters came back negative and I celebrated with them. They felt kind of weird telling me but I was like, "No, I know better than anyone that this is an exciting thing. And you should celebrate." And then my one of my older sisters found out she was not a carrier. And same thing, I gave her permission like, "No, you need to celebrate this. This is like, the biggest bullet you just dodged." And I felt like this sadness, which I was like, Why am I feeling this? Why do I feel more isolated than ever? And it was because I thought I was going to share this with them. I pictured myself being like, "Don't worry about it." I was even telling them while they were waiting for results. I was like, "Don't worry, if your child has it, I will be there, I can tell you exactly what to expect. I've done all this personal research because there is very little actual research out there. And you can do this, you're strong, I'll be there with you." And I was picturing like, man, if I had someone like this in my life when I had Kimball that would have been amazing. And I was like, I can--this is why I had it! I can help other people. And so to find out that they didn't have it, I was like, "Oh, okay, yeah, it is just me." And then I found out that my oldest sister has it. And she is the one who's had five miscarriages and she has six living children, most of which are girls. And babies that have CDPX1 typically will miscarry. There's no research proving this but medically it makes sense, like logically. And that explains why my mom had so many miscarriages, that explained why my sister had so many miscarriages and then I later had another miscarriage more recently. So now I'm up to three. I'm like, That's part of the deal: miscarriages. And I think that my sister and my mom were going to have baby boys with CDPX1 and they they miscarry, they died. And so that's added on to my fate of being a carrier. And implications of it is that I will likely have many miscarriages before we have that other child. And miscarriages aren't fun. The later one I had I was really really really sad because I was ready. And we lost it. And so I'm like maybe it was a little boy with CDPX1 and it would have been a lot harder if he'd lived longer and then died later. So thinking of it that way was helpful but it still was really sad. So my son's syndrome is just following me around and it affects my life so much.
And then there's the elephant in the room that I caused Kimball's suffering. And I've done therapy. And while I was there, we were talking about it. And I was like, of course, it's not my fault. Like, I didn't do anything. And she was like, do you believe that? And then I like actually let myself feel what I had been feeling all along. And I was like, "No, no, it's all my fault. It's all my fault. I gave my son his condition. I gave him all these horrific birth defects. I gave him this life threatening condition
and things that he will deal with for his whole life." And I hate that. I hate knowing that I gave this to him because I just want to protect him. I just want him to be happy. And I know his body is is a huge source of agony and suffering and struggle for him. Of course, he doesn't know any different. He's two and a half. He's happy. He's a little thing of sunshine. But he has a hard time breathing and he vomits all the time and he can't hear without his hearing aids. And he couldn't see for his first year of life, and he might die from his spine issues; someday that might kill him, he has to wear this collar to protect him, and the list goes on of all these extra things he has to go through because I am his mother. And that's been a really hard thing to work through. I kind of switched my mindset over from like, I'm martyr, I'm dealing with him to like, Oh, he's the martyr. He's dealing with having me as a mom. His unlucky fate is that I'm his mom. And potentially Wendy's unlucky fate of having me as a mom because she might have children with it. And I hate that-- I want them to be happy I'm their mom. And I know I didn't explicitly choose it, but I still stand behind the fact that I caused it. It's still my fault.
And Juston has helped me. On one particular night when I was having a really rough time with it, he looked at me and he was like, "Kimball is glad that you're his mom." That was just what I needed to hear. I hold on to that. And I hold on to the idea that he'll always love me and that he will forgive me for it someday when I tell him I have it too and I gave it to him. And I try to be an extra good mom to kind of make up for that. And I'm still just an average mom but it does give me extra motivation to make to make it worth it for him.
And I guess the concluding thought, the redeeming part of all this is that although I gave Kimball his severely defective body and I caused all comes along with that, I gave him a body and that is a huge gift. And so that's helped me see my body like Okay, I can forgive my body for betraying us and giving him all these issues, because my body created his, and I wouldn't have Kimball in my life if I hadn't created him in the first place. And he is an amazing little soul, he's already impacted the world for the better. And he's filled my life with that light and his sunshine. And I love him so much. As time has gone on since that point, and as I've gotten to know Kimball better, and we've become closer and closer, I'm less upset that I gave out to him. Because it becomes more and more evident what a gift he is, and that his being in the world is worth all of his suffering and all of our suffering, that this world is a wonderful place to be and that he makes it a better place to be in. And that's my superpower. I gave him the curse of CDPX1. But my body also had the superpower of creating him and Wendy. And I love my body for that.
You can follow me on Instagram at the_rare_life for things about my family (and when I get pregnant I'll announce it on there, just saying!) and updates about episodes being released. Ironically, next week's episode is with Jenny McClelland, who shares all about her son James with the same syndrome as Kimball. Don't miss it. See you then.