Tag: SMA

 Hi, thanks so much for coming on the show, can you introduce yourself and tell us where you’re from.

 

Sarah: My name is Sarah Manuel and I am from Northern California. So, like, not like the San Francisco part of Northern California, like the real Northern California where, you know, horses are our neighbors and we grow rice.

P: Nice, that’s really nice. I’m from the fake Northern California– in the Bay Area, but I’ve driven up to where you are and it’s beautiful.

S: Yeah it is. and we love going to San Francisco too

P: That’s that’s having it all, that’s great. Do you want to tell us a little bit about what you do. 

S: Yeah, so I am a school psychologist by day, and on the side I am a life purpose coach, and part of that and I’m really excited to share with people, this course I have called destination tomorrow, which is three different ways to visualize your future so you kind of know what you want your future look like so you know how to get there. And when I made my first vision board that I still have because it’s relevant in so many ways, my life now. There was definitely a picture of a baby on there so I knew as part of the feature that I wanted to create for myself, and I just I didn’t really know how to, how it was going to happen but I knew that I wanted it to happen.

P: Okay that sounds cool. I know you have one child, let’s talk about how you got there, how you made it happen.  Before you got pregnant with that child. What did you imagine pregnancy would be like?

S: So I was born with a genetic disease called spinal muscular atrophy, it’s, it has historically been known as the number one genetic killer of kids under two, and I wasn’t supposed to live past age of four or five, and even though I didn’t have that circumstance. I do live my life in a wheelchair, the disease is progressive so I’m stronger today than I will be five years from now, and I am extremely weak so one pound of weight is heavy.  The fact that I was, you know, still alive when I met my now husband. I just assumed that I wouldn’t be able to have a kid and he’s the one that says, Sure, you can’t Why couldn’t you. So we started talking to doctors, and it was really frustrating because we would have one doctor say, Oh yeah, you can do this and then the next one day I don’t think so. I was really scared about what the pregnancy would be like we really didn’t know how my body was going to respond.

P: Let me stop you for a second, will you tell us a little bit more about your condition, were you diagnosed at birth or later than that,

S: my mom started noticing something was off. I started pulling myself up, and then I stopped. So I was around say six or seven months when she said take me to the doctor. And when the doctor told her, don’t panic, you’re still within the normal limit so we’ll give it some more time than when she took me back and, of course I hadn’t worked at that point, and we started doing a series of tests so I was probably around one or so. When I was diagnosed and they thought I had the more severe, to type one is the most severe and I have type two.

P: Okay, well that’s lucky, have they figured out it was type two?

S: because I lived. 

P: Oh wow. Good lord.

S: Yeah, 

P: well that sounds stressful for you and your parents.

S: Well for me I didn’t know any different, because I was so little I know that the types of medical procedures that I had to go through, were very traumatic and painful. And one that I do remember when I was nine years old, they wanted to do a muscle biopsy to confirm the disease but they didn’t have the blood tests and all that back then, so they can numb the skin to do the biopsy, but they couldn’t numb the muscle when they edit because they said that would be it would throw off the results. So I remember it being in the doctor’s office screaming, and they gave me headphones with Smurf music I think that will hold me down, But I really felt them cut my muscle. 

P: Oh, I’m not sure I’ve heard of Smurfs as anestesia before. 

S: Yeah. 

P: Was it from your leg or where was it from 

S: Yeah, he was in my left thigh. 

P: Oh, wow, that sounds unbelievably painful.

S: Yeah, I get a Cabbage Patch Kidl out of it. So that’s pretty great

P: I remember that being pretty coveted. 

S: Yeah, and I got it before the Christmas rush that that season so I was like that, you know, number one, kids school because I have my cabbage patch kid,

P: yeah, that’s, well done on your parents part,

S:  yes. 

P: So as Sarah suggested spinal muscular atrophy or SMA is a genetic condition that you can inherit, if both parents pass on a copy of a flawed gene. This gene allows for good communication between cells in the brain and spinal cord that affect voluntary muscles with SMA signals from the brain don’t reach the muscles, making muscles weaker over time and limiting a person’s ability to move the genetic test for this condition was developed in 1995, almost 20 years after Sarah was diagnosed, it looks like between 10,000 and 25,000 children and adults have si in the United States in the last five years, new treatments have been developed, the attempt to fix the flaw gene and improve the connection between brain, spinal cord and muscles. 

So, so you’re going around to different doctors and some are saying yes and some are saying no and what are those conversations like like are they yes people convincing or they know people convincing or they’re both convincing. What are they telling you.

S: Well, there was one in particular I remember we had guided an appointment and it was like a ninth wedding anniversary and I thought oh this is a great sign she’s gonna tell us to go for it. So we go to the appointment, and she lays out like seven to 10 reasons why it would be really dangerous for me to get pregnant, and then she just says, I recommend that you don’t get pregnant. And I started to cry. And she said, Did I say something wrong. And I’m just looking at her like 

P: 7 to 9 things wrong 

S:  I came to you wanting to get pregnant and you just told me I can’t, and, like you have no emotion, like, so that was like the one that stood out in my mind and it was after that, maybe even a month or two, one of my colleagues at work, was like, why don’t you get another opinion. And I don’t know why we didn’t think about that before but probably because we have gotten opinions less formal, but we’ve gotten opinions from doctors for years. So by the time that he said that, like, oh, well, I guess we could go see another high risk OB GYN and see, because that was the first high risk OB GYN that we thought I said that.

P: Before you get this next answer to the things that she said resonate with what you knew about your body,

S: Not really because I had always beaten the odds like when somebody tells me I can’t do something. I make it a point to go prove them wrong and say, I can do it. 

P: Yeah, 

S: so it just felt like she didn’t know me. She liked my personality she didn’t know what I was capable of. I was just a name on a piece of paper, and she was looking at the black and white, and not looking at anything else which is what she’s trained to do. 

P: Right. 

S: It felt like that door was closed pretty tight. Yeah, that’s it, that’s why it’s hit me and stayed with me for so long.

P: So one thing I want to capture is that when I’m reading about SMA, it seems like it would be a real challenge to be pregnant, do you have you see your arms.

S: I, when I look at myself, compared to other people with my disease and my severity. I think I’m, I’m on the stronger side, like I’m able to put my own makeup on, I’m able to write, I’m able to type. I’m sometimes my arms get tired and they just don’t really got extremely tired during the pregnancy and especially as my work year because I work as a school psychologist, so I had summers off, I got pregnant in May so I was that first trimester just finishing up the school year and normally I would just like down a bunch of tylenol or ibuprofen to deal with the arm pain I was able to do that course. So, my arms, didn’t work as well as they normally do. But yeah, in terms of my day to day post pregnancy and pre pregnancy I’m unable to move my arms, but I’m still considered technically quadrapalegic, and say I have such limited use of my music I can’t raise my arm. Like I can’t lift up my elbows. So, the strength I have is like for my elbows to my hands. Yeah,

P: yeah, fair. Okay so now you have been convinced to go get another opinion and is there anything to your any method to your search to find another maternal fetal medicine doctor like I don’t know how I would identify someone who might be more open.

S: So the first one was referred to you by my muscular dystrophy specialist. Then we went to, I think just my regular general practitioner and said can you refer to a high risk OB GYN for another opinion. And so, that doctor was like heck yeah you can do this, you could even have natural delivery and yeah you’re capable, I’ve done it before we can do this. So then it was just a matter of having that conversation of, is the risk worth the benefit. When do we just go for it, or do we not, and after we talked about it for like three months we decided, our lives would be so much one in which by trying and knowing one way or the other than to always wonder and have that void.

 

P: Yeah. So two questions. Number one, do you have muscular dystrophy community, do you know other people around you with a similar condition

S: at the time and no. 

P: Okay, so they don’t have examples of like other women who’ve done it.

S: Correct. But it was interesting because when I was pregnant. There was another category of like the USA weekly, you know weekly magazine that comes in the Sunday paper. Yeah, there were a woman with my my disease exactly that was pregnant and telling her story, and I was like this is like six months long or whatever. So we actually got in touch with her and talked to her and got more information

P: wow, That’s amazing. I did find one article from 2018. That’s a review article, and they looked at the medical literature and obviously not everyone with SMA or neuro degenerative disease, who’s been pregnant is captured in the literature, but from 1950 to 2018. It was 67 people.

S: Yeah, 

P: which is not a ton. 

S: That’s why at one point we just had to make a decision, my husband and myself to whether to take the risk or not, because they did medical advice but only get us so far we had to just, you know, make a personal decision and, and, for us the risk was worth that the huge reward on the upside of things had worked 

P: it is a huge leap of faith. 

S: Yes, definitely. 

P: What are the risks?  

S: death 

P: why is it potentially fatal?

S:  They were very concerned about my lungs, and if my body was able to tolerate that component of it, there were risk of blood clots and and that kind of thing. Those are the two biggest issues. 

P: Okay, well pregnancy as many people say is a stress test so I guess that makes sense. I guess I was imagining that it was mostly muscular and not like organ related. 

S: Right, so it’s every muscle in your body right, so an example, my lungs, normally develop but the diaphragm muscles are not because it’s a muscle it’s impacted. 

P: Yeah, 

S: so my breathing capacity is lower than a typical person. 

P: Okay,  I apologize for my sixth grade understanding of anatomy.

S: Oh, No, it’s, it’s good to have the questions. 

P: Okay, so you decided that you’re going to get pregnant super exciting. And how does that go.

 

S: It’s couldn’t have been easier we got an ovulation test, found out when I was ready and got pregnant the first try.

  

P: Oh my God, that’s awesome. That is totally awesome. you know so many people have a tough time getting pregnant and I’m so grateful. In your case that it was not hard at all because you might have attributed it to something else.

 

S: Right, and I in the back of my mind I’m thinking, okay, nine years of marriage, we’ve never had an oops. Is it because I can’t get pregnant. 

P: Right, 

S: so it was a relief when, what do you know, I was capable

P: Super exciting and then are you, I’m assuming they put you straight to high risk, you don’t go with a regular OB.

S: It was interesting because I would go see the high risk to do like the CVS testing to make sure the baby didn’t have my disease.

P: Okay so CVS testing or chorionic villus sampling is a prenatal test, in which they take a little piece of the placenta and test it for a variety of genetic conditions, including SMA cystic fibrosis and Downs in Sarah’s case She’s clearly a carrier for the genetics that create a SMA, and they didn’t know if her husband was, it looks like it’s pretty common to be a carrier between one and 40 and one of the 60 people. This test is usually done between weeks, 11 and 14 before amniocentesis can be done.

S: But like the regular OB GYN managed me the entire time.

P: Oh great, that’s nice so it’s less stressful.

S: Yeah, and he was like cuz we were assuming I would just go straight over there, and he’s like, Oh no, we can do this. 

Okay, great, 

P: that’s awesome. And so what was your pregnancy like were you nauseous in the first trimester.

S: Nope.

P:  Nice.

S: Understand how you know that show they used to have, I didn’t know I was pregnant. To me, like, it’s like how do you not know you’re pregnant and except for the missed periods, I wouldn’t have known, like it was the easiest thing in the world.

P: That’s awesome. I think if anybody should be given that gift, it should be used so I’m glad you got it.

S: Yeah, one of the nurses said well we something’s easy for you. 

P: Yeah, 

S: I saw my muscular dystrophy specialist more often. And I got his attention because these doctors at these teaching universities, once you become someone they can write about their research papers they become very interested in you so that was good that I had his full attention. So yeah, it was, it was pretty easy pretty clear cut.

P: That’s awesome. And so, take us to the day of the birth like how do you know, today’s the day and what happens.

S: Oh well, actually let me back up because there was a time I was maybe six to eight weeks it well first of all, they were just hoping I would get to 32 weeks, because that would be a point where the baby could be born, and the lungs would be pretty okay if there would be a good survival rate, and I was able to work to 35 weeks and I went up to 38 weeks to deliver him full term.

P: Oh, let me ask one question about that. So, when I was pregnant the first time the baby was sitting in a way that made me My husband used to say I sound like Darth Vader, when I was breathing because like the baby was like laying on my lungs, you didn’t feel any of that, that was easy for you.

S: that was easy for me. In fact my lungs got stronger as the pregnancy went on because they did lots of pulmonary function tests on me, and they kept improving the further into the pregnancy I got, like, Wait, this is the opposite of what was supposed to happen. 

P: That’s totally interesting. 

S: Yeah, it was amazing. There was one night I remember where he turned, he actually turned himself from being head down to going side to side. And at the time I thought maybe I was going into labor you know going into labor or something. And it turned out to be such a blessing because he was just running around because I’m not a big person, so he turned. So he sat sideways in me and it gave us, you know, an extra month in there. It was very painful, when he did that but  is allowed for more room for both of us. So he was very compliant… like even when I would have to go to the bathroom, you can just see his little butt stick out so he wasn’t on my bladder. He’s a very good boy,

P: I like that, it starts from the very beginning, 

S: yes. 

P: That’s awesome. What do you have to do for gestational diabetes I know you have to do the little prick test all the time.

S: Yeah, I was able to manage mine with just what I was eating I didn’t have to take insulin and everything, but I did have to do the blood tests every time I ate, and that kind of thing.

P: I feel like I was partially on that train and so I remember doing all the blood prick the finger prick stuff. 

S: Yeah, 

P: so that’s kind of a pain but it sounds like it resolved once you delivered me 

S: Yeah, it was fine. 

P: So now take us to delivery day you’re at 38 weeks. And are they are you scheduled a C section or you’re going to have a vaginal birth.

S: Well we had kept asking questions and talking about the different options, and there was one point when they said, if you have an actual delivery, an epidural isn’t possible because I have scoliosis, which is the curvature of the spine. So when I was 10 they put in metal rods to straighten that and they fused it with bone from my hip so it’s like glued there. So in order to get an epidural, they would have to drill through that it’s like okay that’s not happening. 

P: Oh good lord, no thanks. 

S: Yeah, yeah. So if I were, it was either, it would either be natural with no epidural or a C section, and what finally made the decision was they told me if something happened, Your our primary concern and not the baby. And it’s very hard for them to intubate me, so that it would take them a long time to do that. So it’s like okay well then that’s just not an option, we’ll do a scheduled C section.

P: Yeah, that makes sense right have as much control over it as you can.

S:  Right. 

P: Do you have any contractions at all before you go in.

S: Nope

P:  Yeah, that’s I had the exact same experience, no contract felt like a business meeting, because like I show up at the hospital and you don’t feel anything and you just like wheeled to your room. Yeah. So what was the C section like,

S: Well, it was in a general surgery, operating room, because they were going to have to put me under anesthesia. But in order to do that, like I said, it takes them a while to intubate me, so I had to be awake while they intubated me, and I couldn’t take any sedatives or anything because it would have affected the baby. So, I am literally wide awake while they are sticking this tube down my throat.

 

P: That does not sound comfortable are you are you freaked out or how are you handling it.

S: It was an amazing anesthesiologist, he was fantastic, and he talked to me the entire time he went at my pace. They were not interested in rushing things. So, that which is better than because I’ve been intubated while sedated and that was horrible because I would come to and feel like I couldn’t breathe and all that, they would tell me if you’re fine, and it was horrible. So, being awake and having them actually care and talk to me and listen to me was a much favorable experience than the other.

P: Yeah, I mean a good doctor goes a long way. Right, they can definitely take you through some really hard things so I’m also grateful that you had a good anesthesiologist because that’s super valuable in that context. So, once they get the tube can they then like knock you out.

S: Yes, so as soon as they got the tube in. They put me under he was under anesthesia for no more than, you know, four or five minutes right before they let him out.

P: Yeah, the C sections really fast. Right, 

S: yeah, yeah. And it was actually the doctor who prefers the C section was the one who told me not to get pregnant and why are you crying, and I made a point I said, I don’t want her to be the one. And I told them why and she happened to be the one on the calendar that day they didn’t have any control over it. So when she came back in to check on me after delivery, you know, it felt kind of like told yourself. 

P: She didn’t say anything. 

S: Not that I remember now if it stands out. So, if she did a great job sewing me up and everything because you can’t even see it. So, that’s amazing. Yeah, and somebody told me, Well, maybe it did her good to see how she said not to do it and it turned out better than okay

 

P: yeah yeah I agree. I mean it’s a learning, learning opportunity for her, and in my movie version of your story. She’s apologizing at your bedside, while you’re holding your baby. Just so you know, that’s when I when I write the movie. Yes. So, does it take a while to come out of the anesthesia after those whose section.

S: I don’t really know how much time went by, I remember what you know how they have to do the massaging of the uterus when you have a C section. 

P: Yeah, 

S: that was killing me, and they’re just like, I don’t understand why and then I realized later, I didn’t have an epidural. Usually these women aren’t feeling this…it was torture. And, but yeah and I remember before I had the baby I told me how it’s been, Joe come see me just stay with the baby. Don’t worry about me. And then in my recovery, I guess I totally flipped and like I want to say my husband. So he was like are you sure cuz she told me to stay with the baby.

P: It is, you know, you never know what you’re gonna feel like in that circumstance, yeah beforehand right so, so that makes sense. And then, and I’m assuming your son was fine, aced his APGAR.

S: Yeah he was, I don’t know what his APGAR was he was in NICU for four or five hours. And the other interesting thing is my husband did not get to be part of the delivery, because it was a surgery. Wait, and they said, you know you we would usually like the husband’s end to be moral support for the wives but you’re not going to be awake so he will not be there, so that was kind of a bummer for him, but he went and spent, you know they came and got him immediately, and they went to NICU together.

P: That’s awesome, did why did your son go to the NICU was because of the general anesthesia.

S: Yeah. Yeah, they just wanted to watch him, and he was only in there for a couple hours before they moved him to the maternity ward without me.

P: That’s like a drive by, that’s nice. 

S; Yes. 

P: And then what was that what was your recovery like in the hospital.

S: So they insisted that I go to ICU that night, just to be extra cautious, and at first they won’t even let me see the baby, and my husband’s like, No, you need to get her up here so she can see her son, so I got like five minutes in the hallway with our son before they took me to ICU. 

P: That’s real hard right…that’s a hard thing to be separate in the beginning, 

S: very hard.  And I remember like I was wide awake in the middle of the night, they tried to bring in some pumps to help me get that going. But I didn’t have my baby, which that’s all I want it was my baby,

P:  yeah, yeah, yeah…And so, how long were you in it, I see I’m assuming they just don’t want babies in the ICU.

S: I guess and I don’t remember them saying why they just put him in with my husband in a maternity room on the, on the ward. So and it was a private room because we got lucky with that. Um, and my husband like looking back, he’s like, I was kind of happy to have that time because you got him this whole nine months. I got him.

P: That is kind of nice for your husband. Yeah, I interviewed someone else who was in the ICU after her birth and she said they had a rule that there were no babies in the ICU because they’re worried about germ exchange between people in the ICU and a new baby and 

S: that makes sense. Yeah. 

P: So, I’ve definitely heard that that part before. And so, like, did the pumping work, how does that how does that go,

S: it didn’t go very well. It just, I tried once or twice but it didn’t work

P: And did you have any notions of like I definitely want to breastfeed or were you

S: Yeah, I was set to where this was going to happen. And we, I tried many times, it just didn’t, and I just finally said okay, this isn’t what’s important. You know, I let go of it, because it was better because my husband was going to be the one to get up in the middle of the night to feed. So it was,it was better. 

P: that makes sense. Yeah. And did you have any like notions of like I definitely want to breastfeed or were you 

S: Oh yeah, I was set to where this was going to happen. And we, I tried many times, it just didn’t, and I just finally said okay, this isn’t what’s important.

P: That’s amazing perspective because I’ve definitely I’ve seen my friends struggle with it, but there is like a lot of pressure to breastfeed just everywhere. So it’s a little bit tricky to to carve your own path in the beginning, so that’s hard so kudos to you for being able to give it up in a, in a way that makes sense for your family. 

S: Yeah, 

P: all those formulas have DAPA now and all the, you know, stuff that breast milk has and certainly it’s not exactly the same but it seems a much better substitute than maybe like our parents. 

S: right I would agree. 

P: And so, what was your recovery like when you got home,

S: I was pretty weak at first, but you know within a week or two I was fine like I remember he was born December 9 And my mom worked at the school I grew up in, so they had a Christmas program, like maybe a week later, and I remember we took him there so he could see Santa. 

P: Wow, 

S: yeah so we can have our first picture with him the Santa, because I didn’t want to take him to the mall yet. 

P: Yeah, 

S: and I would be kids good I worked with the school here as a school psychologist so all the kids wanted this you know they saw me pregnant so they were thrilled to see the baby and so that was fun. But yeah, 

P: awesome. 

S: I’ve been around and doing stuff. 

P: How big was he when he was born, I neglected to ask

S: he was five pounds five ounces. 

P: So that’s a good size. 

S: Yeah, 18 inches tall, and he had the biggest feet it’s like his feet were the only things that had room to grow. 

P; That’s very funny. 

S: Yes. 

P: And how old is he now. 

S: He is 10 

P: Wow, awesome. So what’s the into 

S: He loves cars like Hot Wheels car video games Minecraft, your typical boy step Roblox that kind of thing.

P: That’s super cute both of my kids were addicted to Minecraft, at some point.

S:  Yes, I think that’s a right of passage

P: no kidding. That’s very fun. So, what an amazing and triumphant journey you have had here. I’m so glad to hear it and I hope that you are, you know, shouting from the rooftops so everyone who follows behind you knows like yes this is possible or get a second opinion.

S: Yeah, and since then I’ve met up on Facebook with other women with my disease who have also had babies. So, if that had been the case, I wouldn’t have felt so alone so like we’re no charting new territory so that I think is helpful too.

P: That’s amazing. So, I am interested to hear if you could go back and give advice to your younger self, what do you think you’d tell her.

S: Just don’t stop believing it. And it was interesting because as soon as I got pregnant, I had this sense of peace come over me that the baby was going to be fine. So I wasn’t really stressed out, there wasn’t really a point where I said oh I wish I wouldn’t have done this, I just was very calm and like excited and like I knew everything was going to be okay. So, I think I would go back and tell her, everything’s gonna be okay, right, you can do this, and you’re going to be fine. 

P: So why don’t we talk a little bit about your book 

S: in the spring, I put out a children’s book, I have actually written in grad school, so it’s been, you know, just kind of sitting around for 13 years and I find the guy the illustrated consequences are tiny. And it’s about some animal friends who, instead of being embarrassed or ashamed that the ways that they’re different. they’re different in all different ways, they, they look for the differences and other people and they encourage it and celebrate it, so that they are, you know, proud of who they are as individual and that, you know, together we’re stronger with our differences and trying to be just like everyone else.

P: That sounds super cool, and you’ll send me a link and I’ll people will be able to find it. 

S: Yeah, absolutely. 

P: Okay, awesome. That’s awesome, that’s so that’s such a great story. I totally appreciate you sharing it with us. Thanks so much for coming on the show. 

S: Thank you so much for having me. 

P: One thing I didn’t understand before I became a mother is that becoming apparent requires a lot of toughness, both physical and mental and serious toughness have been tested her whole life. She seems wildly overqualified for this job . Her story is also a good example of what it’s like to live on the edge of medical understanding. As she said she and her husband just had to make a decision to have the baby at some point, because her experience is unique enough that their decision, couldn’t be guided by medical expertise. Thanks again to Sarah for sharing her amazing story. I’ll put a link in the show notes for Sarah’s class destination tomorrow, and her book differences are dynamite. Hope you enjoyed this episode, feel free to like and subscribe and leave a review if you can. It helps other people find the show. Thanks for listening. We’ll be back soon with another story of overcoming.