Pregnancy and Motherhood for a Woman with SMA

Though it’s been nearly 20 years since the Human Genome Project provided a blueprint for human biology, it still left much work to be done to understand health and disease at a molecular level. The Sweden-based Human Protein Atlas, which is seeking to map human proteins in cells, tissues, and organs, recently published significant updates to the open-access resource. We spoke to Mathias Uhlén, director of the Human Protein Atlas, about how the atlas is changing the diagnosis and treatment of disease, what’s known about the human proteome to date, and how this understanding will be essential to bringing about an era of precision medicine.

Daniel Levine: Carly. Thanks for joining us.  

Carli Hamilton: I’m super excited to be here Danny. Thank you so much for having me.

Daniel Levine: We’re going to talk about spinal muscular atrophy, motherhood, and your own journey as someone with SMA through pregnancy and into motherhood. Let’s start with SMA. For people not familiar with the condition, what is it?

Carli Hamilton: SMA is short for spinal muscular atrophy. It is a type of muscular dystrophy. There are multiple types. They are trying to move away from classifying things as types because it’s changed so much. I was diagnosed when I was two years old and when I was diagnosed they said, “Oh, I have SMA or she has SMA type 2.” But I was able to walk and now as I’m older and they have learned more about spinal muscular atrophy, I’m considered type 3 because I have been able to walk. I am still able to walk a little bit, but basically spinal muscular atrophy is a deterioration of the muscles. You’re lacking the SMN1 protein. So I mean that gets a little more technical, but SMA essentially, in easy terms, is a deterioration of the muscles and the lack to build those muscles up.

Daniel Levine: And how has the condition manifested itself and progressed for you?

Carli Hamilton: So, I’ve actually had a very interesting journey with spinal muscular atrophy. I am the youngest of a blended family. Technically there’s five of us, but on my mom’s side, there’s three including me, and then my dad’s side, there’s three including me. So, I am the youngest either way and when I was younger my mom could tell that there was just something a little off. I went from nothing—straight to walking. I never crawled. And then when I did walk, for those people who aren’t familiar with SMA people who are ambulatory, they tend to have a certain walk, right? It has a little bit of a sway, so my mom could tell that I walked a little bit differently and whenever I would go to step off a curb, I would tend to fall a lot. So, call it mother’s intuition, whatever that may be. She just knew something was wrong. She started taking me to a couple of different doctors. I was born in 1992. Back then they didn’t know a whole lot about SMA. So, my mom took me to a bunch of different doctors and they just said, “You carried her breach. It’s her hips she’ll grow out of it. Don’t worry about it. It’s nothing.” And my said that one day she was just in the bath with me and she was just rubbing my back and she was rubbing her finger up and down my spine and she said that she just had a feeling that it was something neurological.” So, she took me up to Primary Children’s in Utah and within minutes of me walking in or her walking in, the doctor that I was meeting with, the neurologist Dr. Lynn Kerr, she took one look at me and was like, “I’m pretty sure I know what it is. I think she has SMA and we’re going to do some testing.” They did a muscle biopsy because that’s what they did back then and took a little piece of my muscle out of my leg and tested it, and I was diagnosed with spinal muscular atrophy. My mom was basically a single mom so you’ll hear me talk about my mom a lot. My parents separated when I was eight, but my dad wasn’t in the picture a whole lot. My mom really is my cheerleader. She went through a lot with me. So, she got this diagnosis back in the 1990s and this diagnosis was basically a death sentence, right? They told my mom, “Okay, your daughter’s not going to live to see her fifth birthday. You go home, enjoy her while you can. You don’t have much time with her.” So, she took that and she took me home and she tried to give me the best life I could. She never let my disability get in the way. I was out there ice skating. I was doing all these things and obviously it looked way different for me. But she wanted me to have a full life if I wasn’t going to have that much time. So I grew up not thinking too much of it. I got my first wheelchair when I was eight years old, just a manual chair to help me once I started getting a little bit more tired walking to school, from school. I was pretty much ambulatory at that point though so I still used my wheelchair a little bit, but not too much. And then when I went to junior high, that’s when I got my first electric wheelchair to push myself up and down those long halls because you’re not just in one class anymore otherwise it just wasn’t going to happen. So we got my first electric wheelchair when I went into junior high and from junior high, really up until pretty recently in the last couple years I was pretty stable. I would say I used my wheelchair for sure, but I didn’t use it very much when I got home, I would park my wheelchair and try to walk around as much as I could. I went off to the University of Utah. I lived on my own. I was able to get in and out of bed on my own. So, basically I still struggled and I had my different way of doing things, but I still was pretty ambulatory. After I graduated college, I moved up to San Diego and even then it was really great. I met my husband out there at our church and then we moved back to Utah and again, I was still doing pretty good, but I was starting to see a little bit more of a decline, like a gradual decline from high school to getting older, there was a gradual decline, but nothing too major. And then back in 2019 I found out I was pregnant and it was honestly a very scary time. It was not planned and so it was scary for me because I was like, what does this mean for my disability and the progression? Unfortunately, it has meant quite a bit of a decline in my mobility. I after I had my daughter B I was a stay at home mom for the first year and because I had a newborn and I didn’t want to stand up and fall and then not be able to get back up when she was in the other room or whatever it may be, I relied more heavily on my wheelchair. And I always say with SMA you use it or you lose it. So, because I think I relied a little bit more on my chair and I had gained baby weight, I think the combination of some weight gain and not being as active, it really progressed my SMA. So, it’s been quite a bit of an adjustment, it’s been both—it’s a double-edged sword, I guess. So, I’m very grateful that I had as many years as I had of being ambulatory, but it’s hard, to adjust from being really independent, doing things on my own, to now like, my husband has to help me go to the bathroom, my husband has to help me shower. I have to do things on his time or if I need to go anywhere, I have to have somebody help drive me. So, it’s been hard to lose that independence. Actually, it’s been really hard to be completely honest, but I do find myself very grateful that I am still here. I actually started treatment and it’s almost been a year since I started on Evrysdi. So, I’ve been on Evrysdi for about a year and I’ve seen some subtle gains, which is awesome, and if anything, I haven’t seen a decline and I think that’s the biggest thing to recognize since I’ve been on this treatment.

Daniel Levine: There have been a significant number of advances around therapies for SMA. You say you’re using Evrysdi. You’re able to benefit from that?

Carli Hamilton: Yeah. So, there are currently three treatments for SMA. There’s Zolgensma, Spinraza, and then Evrysdi. So, I am not a candidate for Zolgensma. You do have to be a certain age in order and of a certain type in order to qualify for Zolgensma. And then Spinraza—I did try to get started on that. That was first a battle with insurance, of course. As always, anybody with a chronic illness knows how complicated that can be. Then, I actually have some rods in my spine, so we had some imaging done and they realized that they wouldn’t be able to do the injections through the spine for Spinraza. So that also counted that one out. So, when Evrysdi was approved, it is an oral drug that I take daily, it’s been great that that’s even an option. A lot of people with SMA have spinal fusion, or some rods. And so, it’s been great to be able to just take the medicine orally and for those who have feeding tubes, I believe they have that option as well. I don’t personally have feeding tubes, so I’m not actually familiar with that, but Evrysdi has been a really great opportunity to be a part of.

Daniel Levine: And has it slowed progression for you?

Carli Hamilton: I do think that it slowed progression. I mean, that’s always hard to say, right? Like you don’t know what you don’t know. If I hadn’t been on it, I don’t know what I would’ve lost, but I don’t think that I’ve noticed any losses and I have noticed some gains. Before I started taking Evrysdi, I was struggling a little bit more with some arm strength. There was a time period where I wasn’t really able to wash my own hair. My husband would have to come in and wash and condition my hair. And, after I was on a Evrysdi for a little bit, and kind of started working towards gaining that muscle strength back, I’m now able to wash my hair again on my own, which seems like something so little, but again, for those who have chronic illnesses, it’s those little things that count.

Daniel Levine: You just indicated that you were surprised to learn you were pregnant. My understanding was that you were planning to get pregnant and wanted to get pregnant. When did you first think about having a baby?

Carli Hamilton: I’m not sure where you heard that, but I was not planning on being a mom. It was definitely not planned. It’s actually a fun story now that I look back at it, but when my husband and I were dating, we had the conversation and I was very candid. I told him there is a possibility, and people are going to have their own opinions on this. But for me, with SMA being genetic, I knew that if I had the potential to pass this onto my child knowingly, I wouldn’t feel comfortable with that. I’m in a forum on Facebook. People have their different opinions on that and it’s not that having a disability is bad, but I just know the struggles and how hard things can be for myself. I know that I’m on, y for lack of better words or terminology, that I’m on the better end, right. I’ve had a really great experience, more or less, with SMA. So, I had that conversation with my husband and just said, if we have a child and if she has a potential of having SMA, I don’t think I want to have children biologically, we can adopt, we can do other options. We had that conversation while we were dating because I think it’s very important for him to be aware of that. After we got married, we kind of started doing a little bit more. So, my husband is a really, really great advocate for the personal experience I had SMA. For me, it was one of those things where I had it, I didn’t need to know the particulars. Once he and I started dating, he started asking me a lot of questions about SMA and I’m like, shoot, I don’t even know how to answer most of these questions because I just knew I had it and that’s what it was. Once we got married, we started looking into doing some genetic counseling so we could find out about family planning and stuff like that. We met with a genetic counselor and I got genetically tested for the first time. I had had my muscle biopsy when I was two, but technology had changed. So, we did a genetic test for me, confirmed I have SMA. I have three copies of the SMN2 protein, for those who are in the SMA community who know what that means. I have three copies of the SMN2. And then after that, we had my husband genetically tested to see if he was going to be a carrier with SMA, both parents typically do need to be carriers in order for the child to potentially have SMA. His test fortunately came back that he was not a carrier, which gave us a lot of peace of mind to know if we do have children, yes they may be carriers, but they most likely won’t be affected by it. So that was the start of our family planning process and that was a couple years ago. And then my best friend that I grew up with since elementary [school], she got pregnant and had her first baby, and I went down to visit her to see the new baby. About a week after she had her, my best friend looked at me and said, “this was the hardest thing that I have ever done and I don’t think that you can do it,” which sounds really, really harsh. When I tell people this story, they’re like, “dang, what kind of friend is that?” But I think she was really coming from a good place and so I took that and it was heartbreaking, but I was like, “okay, she knows me.” She’s who I moved to California with. She is my best friend, so I was like, okay, I take it. That night I went home to my husband and I just told him what happened and what she said, and I just think that I’ve made the decision that we’re just not going to have children biologically, because I’m not willing to give up my independence and my mobility.  You know, I never really thought with SMA that I was going to get married, right? So, I never really considered I was going to be a mom because I didn’t even think I was going to get married. It was never something that like I grew up with. I was just like, you know what, I’m fine and he was fine with that too. He was like, I would love to be a father, but obviously he knew what he was getting into. So, that was on a Friday and that Tuesday I found out I was pregnant.

Daniel Levine: Well, you said you had gone through some genetic counseling. Did you have any discussion with physicians or other women with SMA who had become pregnant.?

Carli Hamilton: That was the hard thing then and that was what made it really scary because there was a lot of information about that. Now that I am a mom with SMA, there is quite a large group of SMA moms out there, which is amazing. But back then, I didn’t have that network. I didn’t know other women who had SMA that had children, and my neurologist only knew of one other person that had SMA that had a child and she had lived in Utah and then moved so he didn’t have a connection with her anymore. And my neurologist specializes in SMA and so it was really kind of lonely. When I ended up meeting with an Ob Gyn, I met with a high risk one. She had no idea really what SMA was at all. She may have heard of it when she was in medical school, but other than that, she really didn’t know anything about it. So, it was actually very scary because no one had any information for me.

Daniel Levine: And how challenging was the pregnancy itself? I mean, you’ve got a neuromuscular condition and I assume you had to carry a lot of additional weight. What was it like to go through that? And how taxing was it on you physically?

Carli Hamilton: I loved being pregnant. it was literally the best experience, I think partially because of my friend saying, this is so hard, you’re not going to be able to do it. When I went home and told my husband, I actually didn’t think I was pregnant and I didn’t have any reason to think I was. So I took the pregnancy test, like on a whim, on the way my friend said, you should take it. And I thought, if I don’t start my cycle here soon, then I’ll take it. So, I took it at work by myself without even telling my husband and it came back positive. So, I told him that night and obviously the first question he asked was, “are you scared?” And the answer was, yes, I’m terrified. I brought up what my friend had said, and he was like, “I want you to look at me and I want you to listen to me. You have been through so many hard things in your life because of SMA. This is going to be nothing to you. You are going to be able to do this so, don’t think about it being hard. It might be hard, but you can do hard things. You’re going to come out of this on top.” We’re very religious and he told me how my father wouldn’t give me anything that I wouldn’t be able to handle. And so, at that moment, had the decision. I could either go into my pregnancy with what my friend had said with this is going to be the hardest thing, or I can go into it with what my husband said, and I can handle this and I can do this. And I loved every minute of pregnancy. It was seriously so amazing, especially because it was not something I thought I would ever experience myself. Being able to feel her first kick, go to those doctor’s appointments, see those ultrasounds, finding out the gender, everything about it was so amazing because I never, ever thought I would have that opportunity. It did get a lot harder. The further on I got, because I got much bigger, it got harder for my husband to help carry me and lift me because I had this giant belly. It was harder to walk because I had to balance out this giant belly. I had to lean back more to make sure I did fall forward. So, it did definitely get harder the further along in the pregnancy I got. I delivered my daughter at 36 weeks, and for those who are unfamiliar with babies, you typically deliver at 40 weeks. I delivered her at 36, four weeks early, so she was technically premature. My OB really wanted to deliver her at 34 weeks just because she knew it was going to get harder on me. But I pushed for that at 36 weeks. I’m so glad because around week 32, it was definitely getting harder, I was in a lot more pain back pain, and it was harder for my husband to help me. But I was very grateful to be able to deliver her a little bit earlier.

Daniel Levine: One thing I remember about parenting young children is that it was physically taxing. There’s a lot of lifting involved, some chasing too, lots of running around. How have you coped with the physicality of motherhood?

Carli Hamilton: Yeah. The older she gets, obviously the easier it gets because she’s a lot more mobile.

Daniel Levine: That’s what you say now.

Carli Hamilton: Yeah, I know, but honestly, it is. It’s amazing to see how she has adapted to me. I always prayed when I was pregnant that I have to have an independent child. I prayed a little too hard. She’s very independent for a two year old. She’s literally so sweet. She helps me put my shoes on. She tries to help me put my pants on. Obviously she’s tiny, so she can’t really help me with that. But she’s really great. But each stage has its challenges and it has its good things. When she was a newborn, she slept a lot. She was small and she was light. She was born six pounds, so she was easier to manage because she was so light and so little. So, I didn’t really need to do things, but once she started getting around from six months to a year where she wasn’t really walking and not yet crawling, I think that’s when it was the hardest on me because I couldn’t lift her up. I couldn’t hold her. I couldn’t stand up and rock her walking around, and she wanted daddy more than she wanted mom. And that was really hard. There were definitely many nights where I cried myself to sleep because I was like, “oh my gosh, I’m not going to be that mom for her. I’m not going to have that bond with her. She doesn’t want me to ever hold her because it’s different. She wants daddy to hold her and rock her and bounce her and different things like that.” But like I said, as she gets older, we have a different bond. She learned how to crawl up onto my lap. She sits on my foot rests. Basically, her sitting on my footrest is equivalent to me carrying her. When she wants me to hold her, she doesn’t want me to physically hold her, but she wants me to have her on my foot rests. Luckily I have a very nice wheelchair that keeps up with her and like I said, it has definitely gotten easier because she is more independent. She definitely knows that I’m different. She doesn’t know any different, right? She doesn’t know moms aren’t normally in wheelchairs, but if I drop something she’s right there, or she picks it up for me without me even asking. So, I’ve been very lucky to have a daughter who is so intuitive at such a young age.

Daniel Levine: And do you require help or support as you care for her?

Carli Hamilton: No, I don’t actually. For the first year of her life, I was able to be a stay home mom, which I never thought I would be able to do. We f had the plan to have my husband be the stay at home parent and I’d go back to work. But obviously I had some time off for maternity and it worked out fine. We just figured out different ways to handle things. There are some things out there—there’s what we call a wild bird sling. That’s the one that I use for baby carrying. I learn how to use that, basically like a seatbelt. So, I put B on my lap and then wrap this wrap around us and basically it would strap her to me. I got this giant Pack N Pay. We would put it up on the coffee table and on the couch so she could sit in there and play. But if she was on the ground, I wouldn’t be able to get her off the ground. So, we definitely had a lot of different things set up in our house to make it a little bit easier for me to be a mom to her. So yeah, we just had to think of different ways to adapt.

Daniel Levine: Before doing this interview, I looked at some of the literature around this. There’s not been a lot of studies of pregnancy and SMA. One small study indicated the women had generally positive experiences and most said they would do it again. Would you do this again?

Carli Hamilton: Yeah, I would for sure do it again. I really loved being pregnant, I loved the experience giving birth. I had a scheduled C-section. I had to be put out under general anesthesia, which was kind of its own scary thing. But obviously, there’s some things to consider. When I think about it, I would love to have another child, but then when I think of having to care for a baby, I have a toddler. I don’t know if I’m necessarily down for that. So, we do go back and forth, though between my husband and I we’re, “Okay, do we want another one or are we good with our daughter?” Obviously if I didn’t have SMA and that wasn’t a factor, then yeah, we would definitely have more children, but we’re very content with B. I think if we do decide to have another child, we probably will wait a little bit longer, maybe when she’s four and we can consider it where she’s a little bit older and more independent. She’s independent now, but they get more independent hopefully as they get older.

Daniel Levine: And what advice would you have for other women with rare conditions thinking about getting pregnant?

Carli Hamilton: I think my biggest suggestion is, you know yourselves better than most people and people are going to have their opinions. I know so many more moms now that have SMA that have had children and it is wonderful to see it. I have a friend Tanya, she just gave birth fairly recently and her doctor suggested she not get pregnant, she not have children because her SMA was a little bit more progressed. So, I think a lot of people are going to have their opinions. People are going to say, you can’t do this or it’s not a good idea, but I think if you take a look at yourself and you take a look at your situation, and if you think that you can do it, you can do it. The biggest thing is knowing that you are the one that knows yourself better and also going in it with expectations that motherhood is going to look different. That’s just the reality of it. I follow quite a few different people within the SMA community or just the disability community and some people will say motherhood doesn’t look any different for us. And I understand where they’re coming from—we all want to be equal, but when it comes down to it, motherhood does look different for us and it’s important for you to realize that you are going to have to come up with different ways—like we had two cribs for the longest time, because one crib, I couldn’t get B into it because it was on the ground and lower, and she couldn’t sleep in the other one that worked for me because it was smaller. We had the wild bird sling as basically a seatbelt. I had a giant PacknPlay that was lifted up on a coffee table and a couch. And most people would look at them and be like, that’s not safe, but I think you just need to recognize that motherhood is going to look a little bit different and that is okay. It looks different for everybody, disability or not. So, definitely do it if you have that desire and don’t let anybody tell you that you can’t do it because in the rare disease community, we’re told a lot of the time we can’t do things. And I don’t know if anybody’s like me, but when the people say I can’t do something, I’m like, yeah, watch me. I’m going to do it.

Daniel Levine: Carli Hamilton, SMA patient advocate and mother. You can follow her on Instagram at Carli Hamilton. That’s Carli Hamilton. Carli, thanks so much for your time today.

Carli Hamilton: Thank you so much. Good luck everyone out there.

This transcript has been edited for clarity and readability.