Kristen Worrell: Navigating the uncertainty of the SKDEAS spectrum

In this episode, I speak with Kristen Worrell.  Kristen is the amazing mom of two young children, one of which has Skraban-Deardorff Syndrome.   Kristen talks to us about what the diagnosis means for Lynnie, who truly is a little superhero.  We talk a lot about the struggle we have with the unknown of the SKDEAS diagnosis due to the large spectrum of impact to our kids.   We discussed all of the therapies that our children endure each week and how we are constantly questioning if we are doing too much or not enough.   I think a lot of parents will relate to our conversation.   

Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

Transcript

PODCAST INTRODUCTION: This is Emily Beauclair and you're listening to the Smiles Included podcast, navigating through life with our rare disease superheroes. Hi everybody, my guest today is Kristen Worrell. She is the mom of two kids, one of which is Evelyn, who is almost three and is one of our Skraban Deardorff superheroes. This little girl is a fighter and you'll hear all about it from her mom. 

I really appreciate Kristen taking the time to talk to me about all that she's going through. I'd like to say that this podcast is going to give you lots of answers, but honestly, you'll see how frustrated we as parents are during the conversation because we don't know what is or is not working for our kids in terms of therapies. This is a spectrum disorder and we don't know where our kids are on the spectrum. So, we don't know what are they going to be like in a few years, or what therapies work better for them. I have a feeling a lot of people will relate to this conversation.

EMILY: Thanks for joining us, Kristen. To kick it off, please tell us a little bit about yourself and your family. 

KRISTEN: I live in Maine with my family. I've got two children and a husband. My husband's from Virginia, so that's kind of fun. (laughs) I've got two kids. Evelyn is my Skraban Deardorff child and she is almost three and then Hugh is one. 

EMILY: Wow, Maine. Do you have any family that lives near you or are you out there on your own? 

KRISTEN:  I don't want to say on my own, but a bit. We are all spread out. Everybody's about an hour or more away. So, there's not a “call when you're in a pinch” sort of family member, but I have one aunt who has been like super supportive and helpful with Lynnie, because she has a feeding tube. And so she is my backup to watch Lynnie if we ever really need a break or if something happens, like she's comfortable. That is a huge help.

EMILY: Well, tell us all about Lynnie. We'd love to hear about her. 

KRISTEN: Okay. She was born in April, almost three years ago now. At my 20-week ultrasound, they originally thought her brain hadn't divided, which was super scary. (laughs) They detected some heart abnormalities and they said, “You need to speak with a geneticist.” 

Also, my cervix was really short. So, there was a risk of losing her in the womb, which was all really terrifying to hear at your 20-week ultrasound. (laughs) 

It was interesting because my husband had picked out the name Evelyn and kept saying it to me. That was the name that he wanted. I wasn't in love with it. But Evelyn actually means “wished for a child.” And so, when we knew that there were these struggles, I was like, okay, we are going with Evelyn because we love her and want her already. (laughs)

So, we spoke with someone that day on Skype, the geneticist, and they explained that when there's two parts of the body that are usually affected, that most likely means there's going to be a syndrome involved. So, we went home and, totally scary, looking up “brain not dividing.” (laughs) 

It ended up being it was her corpus callosum is missing. An MRI detected that later. That was how we started and we had to go to so many appointments with her while she was still in my womb. Because of my cervix problem, she had a crazy birth. She was supposed to be born at a special hospital. And I was at nine centimeters when it was time, when my water broke, and I was ready. It was crazy. (laughs)

EMILY: Lucky you didn't get birth at home. 

KRISTEN: I know! Well, she ended up being a C-section because she was stuck and I was bleeding too much. It was insane. (laughs) She was in the NICU for a month and a half, and right off the bat, she wasn't eating properly. So that was really rough. And she had a GI-tube placed right before she came home. 

But other than that, we've mostly dealt with low [muscle] tone. That's been a huge struggle. She's still not walking. She had been making huge strides, but she had an event in January and that set her back. But, she's super, super joyful. I think all our kids sound like they are, and silly, and such the best snuggler ever. Like just melts into your arms. 

EMILY: Yeah, I think I think what helps us all get through a lot of this is the is the happiness, and the snuggliness. They give great hugs. But that it's interesting about the corpus callosum because Ali is one of our other Skraban Deardorff kids. I think she's 14 now, but she had the same thing. I think she's only missing half. 

KRISTEN: I think it was partial.

EMILY: Which is kind of insane to me because that's already rare. And then the fact that your daughter and Ali had the same thing.  Wow. 

KRISTEN: Some people have told me that when they figured out that was what was going on, they're like, well, a lot of people can actually be completely missing their corpus callosum and you would never know it. Like no idea. 

EMILY: Really? 

KRISTEN: Yep. So, it's bizarre because it has a key role, but some people, their brain just makes up for that. And others, it's more obvious that it's missing. And so, some of the things I'm like, “Is this the missing corpus callosum or is this more the diagnosis?” I don't know. (laughs)

EMILY: Yeah. So, you mentioned an event which I hate to ask if that's seizure related. Does Lynnie have seizures? 

KRISTEN: Yeah, she didn't have seizures until she was, I think, nine months old and it started really weird. It was this sudden wake up crying; her mouth was jerking. So, it was really confusing because we were like, “Is she seizing? Is she not seizing?” 

It presented really bizarre, but it wasn't right and she couldn't come out of it. So since then, it seems like every three months she will have one or if she's sick or she'll have a couple. But the one in January, what happened there is we're not fully clear because she's also weaning off of steroids. So, she's having some adrenal issues because of that. 

We don't know if she had an adrenal event that caused the seizure or the seizure caused the adrenal event, but she ended up having postictal cerebral edema, which really frustrated me because she went into the hospital and it was the first time I ever thought we were at risk of losing her. Out of all the times we've had to go, this was the time that I was like, oh my word, because then the ambulance, they had to drill an IO because they couldn't get the IV in her and they're like, we have to do this. It's just super tiny, but to get her these, I think it was like the glucose to get her sugar up, her blood pressure was as bad. 

So, it took her a while to wake up from that. After she'd been in the hospital a day, she was so groggy.  She had so many seizure meds, rescue meds in her system and everything. But when she did, we noticed actually my husband noticed and it's like, if he notices something, you know that it's something. (laughs) He noticed that her left side wasn't working at all and her face was kind of drooped on that side. So immediately we were freaking out thinking it was a stroke and her neurologist came in and he said, “Well, sometimes we see something called Todd's paralysis, which can happen for a few days after a seizure, usually hours, but sometimes a few days where there's some sort of paralysis.” And we kept being like, “I don't know. This just looks like what we know for stroke.” 

We're terrified; we’re feeling really stressed out. So, we keep saying, “Can we have an MRI or can we have a CAT scan? Can we have an MRI? Can we have a CAT scan?” They're like, “No, let's just give this some time. We've never seen Todd's paralysis, but it looks like Todd's paralysis. It's a textbook thing.” 

And then days later, she wasn't getting better and she was acting really upset and they looked in her ears like, “Maybe she has some ear infection.” And they're like, “But let's just do a CT anyway.” (laughs) And when they did the CT, they saw the whole right side of her brain, which affects the left side, was not colored correctly at all. So then they finally did the MRI and it showed that she had the postictal cerebral edema - swelling. 

And normally they said they've never seen it in person, but what they know of it is if it happens, it's super, super, super rare. (laughs) And it's usually in one like location, but it was her whole right side of the brain.

As the swelling has gone down, we've seen improvements with the left side, but we'll get an MRI next month and that should show if there was any actual damage that she could come back from. Could take a year or two, but, it'll kind of give us a better idea of what to expect. 

EMILY: Wow. That's beyond scary. And then the ongoing effects of that and the unknown around that must be terrible as well. 

KRISTEN: Yeah. 

EMILY: Man, I'm so sorry. Augh!

KRISTEN: She's wild. 

EMILY: She's got a lot going on.
 
KRISTEN: She is a wild little child. 

EMILY: Yeah, for an almost three-year-old. 

KRISTEN: Yes. 

EMILY: She's seen a lot. That's crazy. Augh, and you had mentioned that you spoke to a geneticist while you were pregnant. Did you get the diagnosis while you were pregnant? 

KRISTEN: No, but they kind of put it on our radar that they would recommend it. And I can just say after looking up the brain not dividing, being all of these unknown scary things, which was really stressful. And I actually also remember during that time before we got the MRI, we watched Wonder. Have you ever seen Wonder? Augh! Oh, my goodness. We cried!

But I think we knew as much as we can have to help us understand what's going to be the reality and be able to just grieve with whatever it is, even though we know there's a spectrum, whatever we can have for answers, it would help us to just grieve and come to terms with things for the future. 

EMILY: I get it. And I actually heard that there is a mom that is pregnant that already knows that her child has Skraban Deardorff. 

KRISTEN: Wow. So, does that come up on the amnio? 

EMILY: No. She did genetic testing already. I don't know any details. I don't know what made her do that so early, but she already knows, which is crazy. 

KRISTEN: Wow. 

EMILY: But you mentioned it's a spectrum. I don't know what she's doing with this information because there are adults that nobody knew that they had Skraban Deardorff until they needed to get tested because they had a child that was delayed. And then there's people like us who have children that are not meeting their milestones. 

KRISTEN: I just wonder why? What is it? Because it doesn't seem like anybody's… When people share the reports, nothing is like, this is obviously why it's worse, you know? What is it? 

EMILY: I know. And some kids have other things going on. You have the corpus callosum and some don't and they're exactly the same. And then, my son just has Skraban Deardorff as far as we know, but we don't even know where he is on the spectrum. They said that we have to wait for him to start talking before we will figure that out. So, we're anxiously waiting for that to happen. When did you find out that she had Skraban Deardorff? 

KRISTEN: I think they did the testing pretty much within her first couple of weeks of life and we found out in that November. I think she was about six months old, I'm guessing. So, we knew early compared to a lot of people. 

EMILY: Did it make a difference to know early? You mentioned it early: With the spectrum, you don't really know what to expect, but were you glad that you…? 

KRISTEN: Yeah. I think for one, the Facebook group has been really helpful because you can ask a direct question that people can directly answer from their actual experience. So that has been hugely helpful. In some other ways, though, I feel like it's given more fears, like more specific fears about, I'm trying to think, talking or living on their own. So, in some ways, you're looking at a clearer picture, which is good, but also hard in some ways. And then sometimes you see others who it seems like they're doing way better and you feel like, “Oh, why isn’t that me? Am I not working hard enough?” 

And I find having a diagnosis is hard in a way. I thought it would be easier to explain to people what she has wrong with her. And I still find myself, like other than saying global developmental delay, that's a lot of words for people to be like, what does that mean? And it's like, “This kid is here, but then there's another kid who's here, and Lynnie seems to be kind of here.” It's still confusing and the name alone people struggle with. (laughs) Every time we go to the hospital, they're like, she's got Skra…? Skra…? Skra…? 

EMILY:  Yeah, exactly. I know. And I was like, only 150 people have it, so it doesn't even matter if I explain to you what it is. (laughs)

KRISTEN: Yes.

EMILY: But, you know, although I think we are finding that there's more than 150 people now, which I don't know if that's good or bad. But, you just made a comment, it's like sort of asking yourself, are you working hard enough with your daughter? And I think that's also something that we struggle with a lot. And I think I'm in the phase now where I am worried that I'm not doing enough. (laughs)

But I don't want to overload him because I feel like I over-therapied my son when he was younger. So, I'm trying not to do that. But now I'm like, am I missing out? Am I?  Should I be doing something else? And would that help? What kind of therapies are you doing right now with Lynnie? 

KRISTEN: Right now we have OT (occupational therapy), speech therapy and physical therapy. And I love physical therapy. 

I think that has been like, I get clear homework, I get clear exercises, and over time I'm seeing clear results, which I really like. But occupational, I struggle with. I think now I'm finding it more helpful, but the sensory pieces, it's like you have to be constantly doing either the brushing or the squeezing or just all those things. And it's challenging because you're like, “I didn't do that when she did this,” you know. 

And there's, it's always in my head. And for Lynnie, same thing with speech, actually. We stopped speech for about nine months because I got to a place where I felt comfortable just saying, “No,” because I was not seeing any improvement. And I didn't think it was helping. I didn't have another place, but I felt I really just was at a point of, “I think we are wasting our time with this.” It was because of COVID, we couldn't do in-person feeding therapy, which is what I really, really wanted and needed help with. And OT and speech weren't really doing a whole lot to help me with that, just kind of vague ideas, but I don't think they were really, really specialized in kids who literally put nothing in their mouth and literally will not eat from birth. And that exasperated me. And I'm really glad that I quit speech for the nine months. And now we have a new speech therapist. And I feel comfortable that, if we're not making progress, I think it will be because Lynnie isn't there yet, rather than because this therapist isn't being helpful, or isn't a good fit. 

EMILY: There's definitely a large chunk of time where I wonder if any of the speech therapy did anything at all. I remember going and like watching what Joe was doing, and I'm like, “This is a waste of time.” I mean, he's having fun, so I will let him, it was very play-based, but I was like, this isn't doing anything. (laughs)

KRISTEN: Yeah. Sometimes it felt so like slapped together in my experience. It didn't feel like we had a clear goal and clear exercises or something. I don't know. But like I said, sometimes, was it just, was it me? Because I was frustrated with the lack of progress. But now I feel comfortable that I had made the right decision. 

EMILY: Yeah. Yeah. I mean, we didn't have the diagnosis yet when we were starting our whole speech therapy and PT and OT journey. So a lot of the times I just kept thinking that it's kind of going to snap out of this. And he's all of a sudden going to start talking and walking and we'll be happy that we did all this. But this is part of me is like, this is pointless because he's going to start talking. He's just going to be late. 

And the doctors were telling us this, too. So, I feel guilty now because I didn't do as much work at home that I probably should have done because I just kept thinking that he's going to catch up and he's just globally delayed and, you know, he’ll catch up. 

KRISTEN: That is so funny because I struggle because you're saying something that I hear other people say to me sometimes, and I know they mean it well, but it's like when you hear, “Oh, they'll get there, they'll get there.” And it's just like, it's so hard to hear that. So I think it's funny hearing your experience of, you were, which was before diagnosis, but you were telling yourself that. And like for me, when I hear that, I'm like, “You don't understand.” 

EMILY: So now I hate hearing that, so I get it. Especially when I have an almost five-year-old, and people see him and like, “What's your name?” And I'm like, “He's Joe.” And they're talking to him and they're asking him questions. And half the time I just let them figure out for themselves that he is not gonna answer them. And like, oh, “I had a late talker, too.” And I was like, yeah, that's my problem. (laughs)

I don't know. And if they're rude, then I'll make them feel really guilty with how they talk to Joe. Most of the time people are just trying to be nice and think of what to say. 

But it's just, I don't know. I feel like now, I still think Joe is gonna speak and we are like heavily pushing on this speech therapy now. But I don't know how much of it was worth it when he was younger. And even now, I don't even know what's worth it. And so sometimes I even feel like, should I be doing other things? And I don't know what those other things are and that's where I struggle. 

KRISTEN: I feel like the life skills thing, I don't know. Part of me, that's something I think about a lot. And it seems like that's area where a lot of the kids do make progress is learning different life skills. 

And, this year, I am determined to get Lynnie out more and outside. Before, she used to either cry, you know, and not being able to walk for so long, she was like on her back, you know? So, it's not comfortable to be outside. But now, I want to get her outside and get her just exposed to different life things. And I hate to say it, but realistically how much of the academic stuff is going to be not worthwhile, but what's gonna grow her as a person where she is? 

And maybe hopefully we can one day make progress on the life skills and that's something she could find joy in, helping in the garden or, I don't know, I'm at that point where that's what I'm thinking. 

EMILY: Yeah, I get it. Cause I think, what are they gonna be when they grow up? (laughs) And how can you help them achieve that? And so, yeah, it's all those life skills and I get it. And that's why I do highly recommend horse therapy if you're able to find that one. 

KRISTEN: I want to. Augh. I was on a wait list forever and then we moved. And I'm, yeah, I've seen so many good things about that. I really, I would love to do that. 

EMILY: I mean, and that's another one. I don't know if it's doing anything, honestly, but Joe loves it so much. And he does talk a lot more while he's there and he directs the horse. And so he does things that… it's definitely helpful. I just don't know how much, and it is good for his muscle tone too. Cause he's still extremely low tone, which, I'm hoping eventually we can end PT. I know you said, you like it. I'm like, “This poor kid.” It's so much work and he hates it. 

KRISTEN: I hope there's an end in sight too, though. Anything, it's like, before this actually, I counted up, Lynnie has three therapists and nine doctors. So anything we can knock off that list would be nice. (laughs) 

EMILY: Exactly. So this next question might help other parents understand where Lynnie is on the spectrum. Can you walk us through what a day is like with Lynnie? 

KRISTEN: Yeah, so we get up around six or seven. The big daily piece of our life is her G-tube feedings. And she actually has Crohn's disease, which is a new diagnosis. And she needs about six to eight feeds a day. (laughs) So right off the bat, we're doing a feeding, but I sometimes have theories that the low tone affects her puking, because she pukes almost every day. 

EMILY: Oh, I'm sure it does. 

KRISTEN: Usually the first thing, or at the end of the day, those are the hot times of puking. She also has meds three times a day. So, we get up and I change diapers and then I give her a feed and give her meds. And if we have a puke, take care of that. And then I have to feed my son. And then I usually take care of a lot of phone call stuff for Lynnie. 

I don't know if you feel like you have a ton of that, but I have so much. There's always an appointment that needs to be rescheduled, scheduled, information taken down, prescription to be tracked down, insurance, always. So, the morning seems to be the best time where I can get that done before anybody's fussy (my son). And then it's either like a bath time, then if it's an appointment day, we have about two appointments a week. 

And appointments are about an hour away. So that takes a big chunk and then I got to prep her food and all of that gear for that. Most of the time though, right now it's downtime and therapy, I struggle, to be honest, always fitting it in because I'm trying to fit in housework and wrangling children. So, every two hours I have to give her a feed, that's kind of keeps the structure of our day and bedtime and snuggle time in the evening. 

But I'm actually trying to get a nurse to see if we could get some help with making sure she's getting those therapy exercises in. 

EMILY: And does Lynnie sleep through the night? 

KRISTEN: She does! Yeah!

EMILY: You've got that. (laughs) That's like the one thing you've said so far that has been good. 

KRISTEN: Yes, yeah, she does. She is a really good sleeper. 

EMILY: Okay, well that's a blessing. 

KRISTEN: Yes, I know, I'm like, okay, thank you, Lord. That is the one thing we don't struggle with. I don't do good with little sleep. 

EMILY: Oh God, me neither. But that's life with these children. So, you stay home with Lynnie most of the time then, right? 

KRISTEN: Yes, yeah, yeah. It seems like she, the medical events, because I started working in the fall to get back into working. And then she had that event in January and it was like, “How do I do this?” Because at the time my husband was working nights and so he could pick up where I left off and we were switching off and honestly it was miserable. (laughs) So I'm doing this and to see if we can get a nurse would be really, really helpful to feel like both my kids are getting their attention and their needs met. 

EMILY: That's probably my biggest guilt is that, because I do work and I feel like that definitely impacts how much time I spend with Joe and some of his therapies. But it's a little bit easier now that he's in a preschool that gives him a lot of his therapies, which is awesome. Like I could not love his preschool more. So that helps and he's there most of the day, but we just had a bad nanny experience and it's like, “How do I trust anybody with my kid?” And just makes me want to quit my job like every day.

KRISTEN: Yeah, yeah. And I've heard a lot about ABA and I think you've talked about it before and there was a place, but it was like, you either have to have your child there half a day or full days every single day. And I felt more like I wanted to try it and my husband is just like, “No, like I'm not comfortable - Lynnie can't communicate.” So I still struggle with that torn piece of, like you're saying, that your son's preschool offers them therapies. I'm like, oh, that would be… the exposure to other kids and the therapies would be wonderful. But on the other hand, I know what he's saying and I agree with it, but I also want her to blossom as much as possible. So, it's like, augh!

EMILY: I know. And I will say that we actually, we do find that Joe benefits from copying other kids, which on my hand makes me really nervous when he's getting older (laughs), but now the more he sees other kids doing things, it helps him figure it out on his own as well, like, that's what I should be doing or that's how I do that skill. So, but he's older. So, there's that. He's about to be five. And I would say over the past six months, we've noticed a big difference in him with how much he copies what he sees, and just being social with other kids. But we're mentioning ABA. I cannot get him into ABA. And you're like talking about the time you spend on the phone, like the amount of time, the amount of calls I made to insurance and people that were willing to give him ABA services. 

It's $150 an hour and I cannot get insurance to cover it. So, we are not doing it. 

KRISTEN: The medical fights, don't get me started. (laughs)

EMILY: Yeah. 

KRISTEN: Like just the different things that you feel like you have to fight for your kid to try to get things. Augh, oh man. I could go on a tangent. 

EMILY: And I definitely get what your husband is saying also. Lynnie doesn't talk, and that's having her do a program where you don't know what's going on every day. I mean, I've called the bus company because I wanted my son to take the bus like other kids. And that's why I'm trying to have him do that. And it's a special bus. But, there was one time that it was 20 minutes late and I was making them go and find the video and make sure that nothing happened to my son. Because he seemed a little cranky when I got up the bus. And “It was probably because he fell asleep and we woke him.” 

But I'm like, “I don't know that. You disappeared for 20 minutes with my kid!” Yep. And I totally freaked out. (laughs)

KRISTEN: I would too. 

EMILY:  Yeah. You can't tell me anything. And I think that not speaking is the hardest part that I have with this diagnosis. 

KRISTEN: Yeah. I would love to hear I love you. She can say mama, but like that is like on my heart all the time. If I could just hear her once say, I love you. I know she loves us in every action.  But to hear that, I would be in a puddle of tears of joy. (laughs)

EMILY: Yeah. And wait ‘til your one-year-old starts talking and saying that. And it's very bitter sweet. (laughs)

KRISTEN: Yeah, it is. It's like, you know, he's toddling around and I'm like, well, he should have been at this point, you know, there's so many weird feelings in that way. 

EMILY: So Hugh, right? 

KRISTEN: Yes. 

EMILY: That's such a cute name. (laughs)

KRISTEN: We call him Huey. 

EMILY: Oh, Huey. That's so cute. 

KRISTEN: Little Huey, Huey, Huey. 

EMILY: So, I guess he's too young really to know right now that his sister is a little bit different than other siblings. 

KRISTEN: Yeah, but we talked about a lot before we decided if we would have another kid, because we both wanted a really big family. (laughs)

And I am just so grateful at the end of the day. It's funny, though, because I had thoughts about, oh, “I want Lynnie to be at this point.” And now I'm like, “Wow, anything could happen to just set her back.” You can't figure out everything. You're saying your son copies other kids. I feel like even just from her brother, she has picked up things. I think she puts things to her mouth more. She's really interested more in watching people eat. And I love to see them being just normal and rough house and pull each other's hair and like share things. Because most of the time when Lynnie's with other kids, she can't keep up with them physically and she can't speak to tell them anything. And so she's kind of stuck by herself and it's not anybody's fault. Kids that little don't know how to engage with a kid like that. 

So that's always hard. But she and Hugh - just total normalcy. And, I've had a lot of times where he's had to go with my aunt or with somebody because Lynnie had a medical event and he's been just “go with the flow” like, man, he's been amazing in that way. Because if he was a clingy, don't-leave-mommy kid like, oh, that would be hard. So far, things are looking good. I'm sure they'll change. 

EMILY: Yeah, they always do. I just wish they could always be together, protecting each other because Joe is going to kindergarten next year by himself. And that's what I am very afraid of and scared of at the moment. Do you think Lynnie's going to follow the normal education path? 

KRISTEN: No, we had planned on homeschooling. I have reached out to several places and I'm struggling to get good resources on how in the world do you do this. But some people I know are more into atypical homeschooling. So, there is the academic piece, but there's also a lot of hands-on life skills. 

And I wonder if Lynnie would do really well in that way. But then there's that other part where I know if she was to go to a public or, I don't know about a private school, but a public school, she would have that IEP. And that would be helpful, but sometimes I want to ask the parents of the older children: “How much does your child actually understand?” If they're going to be spending, how many years is it like 12 years or more of schooling? How much of that time do you think was, I don't want to say wasted, but, how do we make the best of the time that we have while she's a child to soak up things that will stay with her? So, I'm curious. What have the children retained who are older, who did go to public school? 

EMILY: That's a really good question. We get reports of what happened during the day in the class and I know Joe didn't participate in any of that stuff. But I do get a separate weekly on just Joe, and I'm hoping that he's learning from some of it and retaining some of those skills, but also it's kindergarten. It's not like they do too much. When they move up, I'm hoping he can write and I'm hoping that he can learn letters and stuff like that, but right now they're doing that in the class and I know he doesn't have any concept of what any of that means. It probably is a total waste of time for the moment, but hopefully he's absorbing some things. 

KRISTEN: I do feel overwhelmed because I do very well with a clear-cut plan and a curriculum. I did well in school, you have goals, you make them. How do you tailor that for a child like our kids? How do you make realistic goals? If I do follow through with homeschooling, it's going to be so out of my comfort zone because I love the clarity of a curriculum that is here with questions, answers, tests, you know. 

EMILY: More power to you for even thinking about it because I know I could not do that. (laughs)

KRISTEN: We'll see. I'll have to give you an update in a couple of years. 

EMILY: Yeah, I would probably be pulling my hair out after the first hour of homeschool. I don't have the patience for that. I know that about myself. (laughs)

KRISTEN: It's good to know. 

EMILY: I hope you could do it cause I'm sure, and even again, the whole guilt thing, I'm just jealous of the amount of time that you would spend with Lynnie having her home and homeschooled, so that's also nice as well. 

KRISTEN: Yeah, yeah.

EMILY: And speaking of things that I know I cannot do, I've seen photos of Lynnie wearing glasses and thank God, Joe does not have to wear glasses because I have to ask, how do you get Lynnie to keep them on? 

KRISTEN: She doesn't anymore. When we started the glasses, she did amazing for months on months on months. I don't know if it was a full year. And then it was like, boop, I'm not wearing them anymore. And I cannot get those things to stay back on her noggin. (laughs) And I actually need to bring them with me to OT, but I also don't know if what happened in January changed her eyesight, so we need to try to get another appointment in, but it has been a struggle since then and I don't know why. It's very frustrating because it was going so well. And every time I see family, they're like, “Where's her glasses? Where's her glasses?” We can't bring them with us because they're going to be thrown off somewhere. Who knows where? Stomped on. (laughs) So right now we're not having success. 

EMILY: Yeah, okay, because my son throws everything. We did the eye test and then we had hearing tests and I was like, one of the reasons I was so afraid that he might fail his hearing test wasn't necessarily that he would have to have hearing aids or that he wouldn't be able to hear, but I was like, how would I keep those on his head? 

Luckily he passed. He failed his hearing test multiple times because he doesn't have the attention span or cognitive ability to understand that when they're putting Mickey and making noises on one side that he should look at that side. It's just stuff like that where it's a frustrating experience for your kids. And they're like, “Doesn't your kid understand?” I'm like, “Ask him, he'll tell you. (laughs) Why don't you ask him to look at the Mickey when it goes off and see if you have better luck than I do?” I'm getting worse, I used to be the apologetic mom and now I am not. 

KRISTEN: No, I feel like many people would say that I was shy and I feel so much more confident in myself and in using my voice than ever. This whole diagnosis has changed me as a person. Sometimes I have to be like you. You're like, okay, “Am I going too much over the other side?” But yeah, I'm so with you on that. 

EMILY: But then I'm always like, I don't want them to take it out on Joe, so I still have to be really nice. 

KRISTEN: How do you handle other people's opinions? About everything, you know, with your kid. I feel like I struggle to take things with grace because there's so many people who have ideas and you feel like: “I have tried them all.” And I don't know what to say anymore or I feel very impatient now when it comes to questions or “Wouldn't this work better?” The eating piece drives me insane. There's nothing I can do to make her eat. I do my best. “I know you didn't see me try to give her applesauce at this meal,” and you're just feeling guilt. 

EMILY: Oh, so you mean people are saying, “Maybe she doesn't like what you're feeding her. You should try and give her this.” 

KRISTEN: And it's all well intentioned, but I find that to be really challenging. Just because it's always going to be there and it's tiring. And so I'm not patient about hearing those things. (laughs) 

EMILY: I struggle with the same thing. Because I'm just trying to get out of the conversation in general.  And it never goes away. I mean, you're going to lose your patience one day because the audacity that some people have to think that they know something you don't about your child when you deal with them 24/7. It's always amazing to me the nerve that some people have. Even with speech, for instance, we get a lot of people that are trying to give us advice about what to do. And I was in a whole thing with Joe's speech therapist because we had a path that we wanted to follow. And she wanted us to do something different. And I'm like, “We're on this path. We want him to be able to use this book to communicate. And that's where we are. And that's where we're going.” And they wanted to try other things. And a lot of times I felt ganged up on by the school and speech therapist because they're like, “Well, we've done this this whole time.” And then I'm like, then I would sit in there second guessing myself. And so I would just have to write down: this is why I made this decision. In the IEP meetings with my husband, I'd be like, “Make sure that I say these things.” And he would never say a single thing during the IEP when we're all fighting. But he would point to my notes. 

Or he's like, “Don't forget this.” And so I think that that's helpful. And lately I've been doing the IEP meetings. And they've gone a lot better because I'm just being like, “This is my path. This is where we're going.” And I know people aren't comfortable with it. But this is what we've decided. 

But I do feel guilt about, “Am I right?” But there's so many opinions from other people about what might work and what might not. And so we just have to trust what we think might work. And I'm hoping I don't feel guilty about it later. 

KRISTEN: I know. That's the struggle. It's always the “What if?” Like, “What if I had tried that?” (laughs) Or, “What if we went with this different plan?” 

EMILY: Yeah. Some people do gene therapy. And I don't know. Nobody's even told me to do that! I'm like, “Should I be doing that? And is my son missing out?” And so I'm going to talk to my geneticists again next time we meet with them. Because we have another. We have the Skraban Deardorff folks, and then we have the geneticists that's near us. “Should we think about this?” I don't know! They're going to say no. They always say no to all these things. So it's just whether or not I want to push it. 

KRISTEN: Yes. Yeah. Because I think our neuro just said basically, which I don't know if we're going to stick with him. He just kind of made it sound like all the out-there ideas are out-there for a reason. (laughs)

Yeah. And I don't really appreciate that so much. Because I have curiosity about different ideas and different methods. But I'm also not anti-pills or anti-the traditional things either. But I'm also open to trying different things. And I wish there was a bit more. I wish our doctors were a bit more scientific. And “Let's experiment. Let's try this,” rather than “Here's our textbook. You should fit in it this way. And this should work and create this.” That really stresses me out, I feel. So much that they don't have a curiosity to solve things or to take the time to figure things out. I don't know. It just sometimes it feels like you need to fit into the textbook. And if you don't, oh well. (laughs) 

EMILY: Yeah. I'm frustrated for our kids specifically that we don't have a playbook of what we should do. Everyone does speech, OT, PT, maybe, ABA. And that's the advice that we give each other. 

One of the dads at the family conference is telling me they do magnetic therapy. And it's like stuff I've never read. I don't even know who would have told me to try this. So, he was asking if we did it. I was like, “I don't even know what that is!”

KRISTEN: I've never heard of that.

EMILY: Yeah. I still don't really know what it is. But I'm not against it because I've never heard of it. I just don't know who would tell me to try it. I don't know where to go to get it. Even when there's something simple that I want, I can't find it for my kid. Yoga, for instance, I really wanted to have Joe try yoga. And I couldn't find a class that would work for his needs. 

KRISTEN: Same with musical instruments. I would love that to try it because there's so many seem to be interested. Is there somebody who would do a class tailored with our kids? Because that would be amazing if they could learn to play instruments and such. Like, wow. 

EMILY: Yeah. And I'm saying I would love to add these things when I don't even know how I would schedule anything else and figure out how to get there. 

KRISTEN: And that's what drives me crazy because I don't know if you're like this, but I used to be the person who had my checklist and I could get things done up with my day and that was completed. And Lynnie's appointments and her G-tube feeds, I never had that sense of completion. There's always another appointment and there's always another feed that needs to be done. How do I change that part of my personality that doesn't feel stressed out just because I know I have something else to do? It stresses me out when I know I have something else to do, and it shouldn't. It's just part of my life, you know? I don't know how other people do that with appointments, like just don't get stressed out. My husband doesn't get stressed out ever, but that's me. 

EMILY: That’s a theme among many of us moms. I worry sometimes, if I was not here one day, would Joe make it to like any appointments? Would he be registered for kindergarten? (laughs) I can't sleep at night because I need to call and make this appointment and or I'm waiting to get this appointment. I need to call and see if I can get off the wait list and it's like, “Did I do this enough for Joe?” And I can't sleep and he's like, “I don't understand it. You're fine - done enough.” 

KRISTEN: I know. I don't understand how some men don't feel the stress or the pressure to-do things. I don't get it. 

EMILY: I have to live forever. 

KRISTEN: Yep. Yeah, seriously. Lynnie's medications or her feeding schedule gets switched around a lot. I sometimes try to update paperwork of her food schedule, but it changes a lot. And I'm like, man, I don't know! What if I was sick in the hospital in a coma? (laughs)

EMILY: Yeah, I know. “Poor child’s going to starve!” Yeah, we're lucky that we don't have a feeding problem with Joe. Because the G tube, I've heard horror stories and changing them. I listened to so many medical podcasts that freaked me out constantly about other rare parents. And that's another thing that I was hearing about. I'm sorry that you and Lynnie both have to go through that on a not even daily basis, multiple times a day. 

KRISTEN: I would never have been able to handle medical things at all. You don't understand. It's a miracle that I can do them now, you know. And it's funny because I see my son; he looks at her button and he’s intrigued or he's chewing on her G tube supplies. I'm like, okay, he won't have this problem. He's going to be cool with all medical things. (laughs)

EMILY: When he eventually has play dates and see other kids like, “Why doesn't your sister have a tube coming out of her?” (laughs)

KRISTEN: Yes. Yes. 

EMILY: So not normal!

KRISTEN: I can so see that. 

EMILY: I know. I can't wait to see what my two boys are going to be like when they're a little bit older because they're just so cute together. And my younger one is protective of my older one. 

KRISTEN: It is weird, isn't it? Because it feels a bit like the roles are reversed, but it's okay. They seem to be okay with that dynamic. 

EMILY: Eventually, I'm sure we're going to have a lot of questions from Ben, who's my younger one. But right now, he just he just accepts everything. I've actually never heard my younger son say, “Joe can't talk. Joe doesn't talk.” It just doesn't register to him because they have their own communication. 

KRISTEN: Right. 

EMILY: There's a lot of pointing and laughing and hitting each other and stuff, but they communicate just fine. 

KRISTEN: Well, I love that. I think there's one or two sisters on the Facebook group, and it seems like they check in on their brother, have a good relationship and caring relationship, which is wonderful to see. I hope that as a mom, I can balance both of their needs well and not everything isn't Lynnie-focused. I think that's something I worry about with Hugh. I don't want him to feel like life revolves around Lynnie all the time. And, I'm way more patient with Lynnie. I can tell that and things like that. And I just try to keep those bad things kind of self-aware of that because I'm afraid of ever making him feel like he's not as important or just because he's rowdy and can understand “no” clearly. Whereas, Lynnie, I don’t know. He gets a swifter stern voice, things like that. 

EMILY: I've actually noticed a lot recently when we go places, even family events, that the conversation goes to Joe a lot. I've noticed it and now I'm trying to ask questions, like we're hanging out with my nephews, like, “How's Owen doing? How's karate going?” And because Joe's there and people are noticing that he's not acting the way the other kids are. So it just it keeps going back to, “Well, how's Joe doing?” And they're trying to make me feel better. Like, “He's doing so well. He's doing this.” We don't need to talk about him all the time. 

KRISTEN: Yeah. 

EMILY: And I don't want to talk about him in front of him, where it makes him feel like he's different. That also makes me uncomfortable. I'm trying to actively be like he's not the center of attention everywhere. He does not need to be the center of attention. But it just always turns out that way.

KRISTEN: Yeah. 

EMILY: And so I'm hoping that Ben doesn't realize that or it's not impacting him. 

KRISTEN: It's funny because my husband is very aware of trying to be, you know, I'm more engaged with people and talk with people about Lynnie's diagnosis and be all connected on Facebook. (laughs) And he's more like, “What about her privacy?” Even when people are asking how they're doing, she deserves some privacy. And when she's older, if she understands more, she might not appreciate that you blasted all this stuff either on Facebook or whatever. So many things to sort out with children. 

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EMILY: Thanks for listening. I hope you found today's discussion helpful in your rare journey. If there are any other topics you want me to discuss, questions you have for some guests, or if you want to be a guest in the show yourself, please reach out to me via the email included in the show description. Please also visit skdeas.org to learn more about Skraban Deardorff and consider making a donation to help fund research to help our kids. Talk soon.