February 17, 2022
Cindy Lopez:
Welcome. My name is Cindy Lopez, the host of this CHC podcast, Voices of Compassion. We hope you find a little courage, feel connected and experience compassion every time you listen.
You know, as a parent are you wondering if something’s going on with your child? Maybe you’re observing some behaviors that give you cause for concern and you don’t know where you can turn for help or how to determine possible next steps. So join us today as I talk with Sarah Knepper, educational services manager at Esther B. Clark school at CHC. Sarah’s telling her story today as a parent with her young child from thinking something was off to finding and receiving the help that her son needed. As both a parent and an educator, Sarah has 20 years in special education. She shares her journey with candor, compassion and authenticity. Welcome Sarah.
Sarah Knepper:
Hi Cindy. So my name is Sarah Knepper, and I am a special education teacher at Esther B. Clark, also a mom. At 18 months, my son Harrison was diagnosed with White-Sutton Syndrome, which is a syndrome that is characterized by a developmental delay, speech delay and autism, and it’s caused by a mutation on the POGZ gene and right now he’s a six-year-old happy child, but we’ve kind of been through a journey.
Cindy Lopez:
Yeah, I can imagine just from what you just described, what he was diagnosed with that sounds fairly complex. It seems like you recognized fairly early that your child needed help. So what were you seeing? How did you know that?
Sarah Knepper:
So when he was born, he was born fairly small, even though he was born full term, and the doctors noticed that his head circumference was a little small, but they didn’t really know anything. I mean, for the most part, he was born typical and early on he had some difficulties feeding. He wasn’t able to breastfeed, and then I had some difficulties feeding him formula, but since I was a new mom, I had no other children, I just kind of chalked it up to just anxiety and postpartum issues and things like that. So at about eight weeks I started to get concerned because he didn’t feel sturdy, which I know seems strange because newborns aren’t exactly the most sturdy, but his head was flopping around a little bit, and I just had this kind of pit in my stomach.
I addressed it with my pediatrician, she wasn’t concerned, but I continued to be concerned, especially as he got older, he was just missing some basic physical motor milestones. And then again at six months I started to consult Dr. Google, which I wouldn’t necessarily recommend, but that’s what I did, and I actually found a name for what I was experiencing and it was called hypotonia, which is low muscle tone. I again brought it up with my pediatrician at six months. She again was not very concerned, and it took me going back to my family. I had a niece that was the same age as Harrison and after holding her and noticing her development, I said, you know what, I’m getting a second opinion.
So I went back to my pediatrician, I asked her for a second opinion, and she went ahead and said, “okay, sure.” From there the second opinion sort of brought me to a developmental screening and the developmental screening essentially said that he was behind in all areas, and this was about eight months, and from there I was referred to a developmental pediatrician and that pediatrician, I mean, he was a lifesaver. He explained all of the things that I was seeing, helped me understand better what hypotonia was. He was able to refer me to some other doctors, a neurologist, and then I was also referred at that time to a geneticist, and in the meantime I had found a Facebook parent group for children with hypotonia, and I just cannot go on about how helpful that was to see all the different experiences that children had and kind of see a path forward. And from there I learned of something called whole exome sequencing, which is basically a genetic test that looks at the exome, which is like the express genes and looks for some, you know, mutations and irregularities. So I basically, at our genetics appointment at about 16 months, I walked in and talked to the geneticist about what I was experiencing and what I was seeing, and I said could I have whole exome sequencing? Could I have that test done? And she looked at me and she said, well, it wouldn’t be the first thing, but since you asked and after, you know, examining him and in reading the history she went ahead and referred us to that and we did that whole process. And after about two months those things had to be sent to Baylor, and they had to analyze it. It came back with, they found a mutation on the POGZ gene, which had just recently been characterized as disease causing, and they had named it as a syndrome called White-Sutton syndrome. I mean, it had just been maybe two to four months before, is when they named it as a syndrome. So in many ways we were lucky, and we’ll talk a little bit more about that. That started the process by which I felt like, okay, I can come to terms with this. My son is not going to be typical, and I can start doing what I can to help him, you know kind of reach the greatest potential that he can reach.
Cindy Lopez:
Wow that’s quite a journey, and I can imagine that it was scary, right, unsettling to think that something’s going on and you’re not quite sure what. So how were you feeling at that point? What was that whole journey like for you from a mom’s heart perspective?
Sarah Knepper:
Oh my goodness, I can’t even begin to describe the level of anxiety and just feeling like helplessness because I felt very strongly that something was not typical. At the very beginning, I wasn’t making a lot of inroads, and I was also a new mom. I was experiencing all those postpartum things that new moms experience and honestly I was going down all sorts of rabbit holes on the internet and all those things I knew I shouldn’t necessarily be doing, but it was actually to be honest, it was the developmental pediatrician that allowed me to think more clearly about what was going on. He was able to give me a word: hypotonia. He was able to give me like clear guidelines on what kinds of doctors I could be consulting with so that I wasn’t, you know, going down that rabbit hole and to be honest, it was at that that point where I started to feel better.
I, you know, work at EBC, and I had this office at the top, at the second floor where I could see the playground, and I just remember before going to the developmental pediatrician, I would sit there and just watch all the children playing, and I would sometimes break into tears thinking about what our future was going to be like. A lot of my friends had children the same age. I was happy for all of the progress that they were making, but I was also feeling jealous, you know, and I was trying to avoid talking about the milestones that other children were making. I remember very specifically at parks I would lie and say that he was younger than he was so people wouldn’t question why he wasn’t walking yet. And he didn’t walk till he was two, and so I just would say, “oh, you know, he’s only a year” when he was actually closer to two, those kinds of things, you know, that kind of guilt and anxiety.
Cindy Lopez:
So what is a developmental pediatrician? How’s that different from your regular pediatrician?
Sarah Knepper:
So a developmental pediatrician is a pediatrician that has advanced training in like the social, behavioral, physical development of a child. When children are not developing typically of all ages really, in any one of those areas developmental pediatrician kind of takes over and kind of assists with all the different assessments and referrals that need to be made for those kinds of kids.
Cindy Lopez:
So you went to the developmental pediatrician having gotten some information from the parent Facebook group you were part of, and you went to him and asked for some specific things. Can you talk maybe a little bit about how you got to that point, what was kind of the conversation between you and other parents?
Sarah Knepper:
So it was the hypotonia parents connection on Facebook, a shout out to them and basically once I got the referral to the developmental pediatrician, I asked other people what their experiences were with developmental pediatricians. What are some of the questions that I can ask? Are there certain things that I need to make sure I bring up? Are there different referrals that you have gotten that have been helpful? And I got a lot of information. I also just jotted down a list of things to clear my head a little bit. I mean I was in this fog that entire time, and I would just wake up in the middle of the night thinking about things, and so I started a little notebook in which I jotted down the things that I was seeing and the concerns I was having, and before I went to the developmental pediatrician, I actually had a list of questions that were pretty specific on, you know, what I was seeing and the questions I needed answered, and he wasn’t able to answer all of them, a lot of it was like, well, it’s kind of a wait and see, but I at least felt better having a list.
Cindy Lopez:
I think in general for our own health, for our kids’ health, it’s just so good to do your own research and find out a little bit more about what’s going on because you need to be an advocate for yourself, for your child. You saw the developmental pediatrician, you saw the geneticist, you ended up with that diagnosis?
So what was your response, how did you feel, what was going through your mind, heart when you found out the diagnosis? And it sounds like there was more than just that diagnosis.
Sarah Knepper:
So I’ll never forget it was September, and I just remember walking, we had gotten the call that you know, they had the results of the whole exome sequencing. My husband and I were walking into the clinic, which was in San Francisco. So it was all sorts of crazy traffic getting there, and I just remember thinking like, my life is going to change today I just know it, and so we walked in, and they showed us the results. They explained what they knew about White-Sutton Syndrome, which at the time 2016 there was almost nothing. I mean, there were 18 other individuals diagnosed at that point and the doctor, I just clearly remember her saying now starts the intervention and nothing that I show you here in the literature is going to tell you his future, and she was so wonderful, we had Harrison with us at the time, and I just remember looking at him, but for me who had gone through all of this anxiety, that moment was very much coming to terms and because I had a diagnosis, and I had felt so long that something was not quite right, I really felt better to be honest. It was kind of this like release. It was a little bit different from my husband. I’m not saying that he was in denial, he wasn’t, but I think that there was still a part of him that had been hoping that that result would be, no, nothing all is good, and so that period kind of came, you know, I mean, we just had to negotiate the different places that we were at in our acceptance, in our journey.
And, you know, that was difficult sometimes, I have to admit, but there’s real grief there. And for any parent that has gotten this kind of diagnosis, I just want to say that it is real grief and grief comes in waves. So anytime you feel like you’re over something, there are times when it just comes back to you in waves and usually for me that kind of comes around the diagnosis time, but then, you know, later on when he was probably closer to three, we sought out a diagnosis of autism and that was because many children with White-Sutton Syndrome have autism, they have the behavioral characteristics of autism, and I felt pretty strongly that ABA therapy could really help him at the time he was three. He was not talking, he was not using any kinds of words. You know, just having really a lot of difficulty communicating and letting his needs be known and so because of that, there were a lot of behavioral difficulties, and so I felt pretty strongly that ABA would help, given my training and given the experience that I’ve had and also from other parents.
And so at about the age of three is when he received the diagnosis of autism, and honestly that opened a whole other world for us as well. So going back, one thing I do want to say the intervention that we got before the age of three, and I actually had found this in the Facebook parent group is that you can self refer to birth to three services. So I didn’t even need a developmental pediatrician to refer to early intervention birth to three, and so when he was about nine months, I self-referred, this was before we’d necessarily gotten the diagnosis. I self referred to I think it was the golden gate regional center and they came out, assessed him, said that he was, you know, two standard deviations from the norm in many areas. And so we got a lot of services through birth to three, and we had a special instructor that worked with him in our house, and she was so amazing. I just can’t even begin to say how amazing she was. She explained what we could do with him at home. She explained the different ways to interact with him so that he was you know able to start to use his mouth better. So at the time he wasn’t standing unassisted and she showed us different ways to assist with that, to build up some of his tone so that he could meet some gross motor milestones. She also like showed us toys that he was interested in, brought all sorts of things to see what he liked, and so she was a huge help. And then also at the time, we received physical therapy, which again, amazing, right because, they were able to work with him weekly, to assist him with some of motor milestones that he missing.
Cindy Lopez:
So you talked about, you know, self-referral and the regional center and the golden gate regional center. How did you know where to go? How did you even know that the regional centers existed?
Sarah Knepper:
So I actually knew because of my work with students with disabilities, I’ve been working with students with disabilities here in the Bay Area for almost 12 years now at the time about six and so I knew of the regional centers, but I did not know anything about birth to three. And so again, through that Facebook parent group they told me that it was self-referral and I thought, oh no, that’s not true. Just Googled it found out it was indeed self-referral, and I call up the number and got the whole process started and it was really, really very easy. And so I definitely recommend any parent go ahead, do the self-referral. The worst that can happen is that they tell you, you know, here’s where your child is in like sort of the normed assessments, here’s where your child falls and that you don’t qualify for services, right. At that point I just had these feelings, but I was actually able to see what the data showed and that helped me quite a bit to sort of confirm that I was on the right path, and birth to three services, any kind of early intervention for, you know, cause that’s when your brain is developing. And those kinds of services are so important to the early, sort of development of a child with a disability.
Mike:
CHC’s Voices of Compassion podcast is made possible by the generosity of people like you. To learn more about supporting CHC, go to chconline.org/donate. Also make sure to follow us on social media for more inspiring and educational content from CHC.
Cindy Lopez:
It sounds like definitely there were pivotal points on your journey, would it be possible to kind of generalize those for our listeners today?
Sarah Knepper:
That whole time when I was seeking out a diagnosis, and then once the diagnosis happened, getting those birth to three services and then learning from the practitioners what I could be doing at home and then also learning about the why of what they were doing, asking a lot of questions and trying to understand like, okay, this is why, you know, I’m doing this with him. One of the things that she did when she would get him these books and have him try to imitate some of the facial expressions. And then she told me that this was going to help him be able to build some mouth strength, and so just getting the why of what she was doing and understanding better.
And then after his diagnosis with autism, getting him set up with ABA services. ABA services were definitely instrumental in getting him to start speaking, now he can speak in sentences, but it was just a lot of repetition of assisting him with communicating and then also once he turned three, he was able to be on an IEP through the school district and kind of going through that process, and finding the best match for him. And in his case, it was a self-contained autism special education preschool program with people that had some training in autism, but then also had some training in speech development, language development, social skills, development, all of those things, those kind of specialized trainings.
When he turned six, he got the school age eligibility of autism, and I guess a pivotal moment there was he also, with all the different normed assessments, they determined that he has an intellectual disability, and kind of going through the grieving process again and understanding that that was another part of our journey and then also kind of wrapping my heart and head around the fact that he was gonna make the progress that he can make, you know and to keep that in mind, whenever I go to IEP meetings, and I kind of see how far behind he is that I shouldn’t focus on that. I need to focus on the fact that he is making a ton of progress with all the different services.
Cindy Lopez:
Sarah, you’ve mentioned ABA services few times. Can you talk about what ABA is for those parents who are in the autism world or their child has autism, they probably know, but maybe for other, other listeners?
Sarah Knepper:
So ABA stands for applied behavior analysis, and there’s an assessment that kind of determines where that child is in all sorts of different categories on their ability to communicate, their social development. It’s a very extensive evaluation by the way. It took our ABA practitioner, and this is through insurance, a couple of weeks to do that. And then from there working with me, developing realistic goals for the year, what are the things that were important to us as a family? What are the things that are important to his development? And then from there working on those goals with, a variety of RBTs, registered behavior technicians, and those services are actually in our home, and have been in our home. So I’m there and I can kind of see what’s going on, and I can see the sort of discrete skills that they’re teaching that will then lead up to more generalizable skills.
So for example, one of the things that they work on is to be able to follow two step directions. And so in a lot of these two-step directions are relatively familiar, but some of them are unfamiliar and/or sort of involve him having to go from one room to another. And those things are in our home, but I can definitely see how he needs to understand those directions so that he can you know, do well in school and be able to follow the instructions of adults in the community, follow our instructions. And every six months they do a review, and we talk more about the things that are important to us, and the things that we feel like he needs to work on. So right now, we’re trying to work a little bit more on him being able to play like at parks and be able to engage in some kind of reciprocal play with peers at parks. So things like that, things that are very much about the community and his development as a little boy.
Cindy Lopez:
You sound like an amazing advocate for your child. You’ve learned so much, I’m learning so much listening to you. How did you build your advocating skills and what would you recommend to parents about that?
Sarah Knepper:
For those who know me I can be a relatively dogged person. I do a lot of thinking and analyzing and trying to look at the bigger picture, but I would say really to build my advocacy skills, it was about trial and error. It was about, like I said, a list, having a list of every single doctor’s appointment with very clear questions, you know, understanding the vocabulary. I mean, because I would go into those doctor’s appointments and all this jargon and vocabulary was thrown at me, and I would sometimes at the appointment I would write down things that they said, and then go look it up later. Again that Facebook group, I can’t say more about that, that was amazing to have other parents that were experiencing it.
And then of course, my training as a special education teacher and at the time I also was an admin. I kind of understood deeply how having a child that was struggling was very difficult for parents because I’d been working at EBC at that point for six years. And I kind of knew both sides I understood that there were services and a path forward, but then I also understood that whole grieving process I saw all around me. So I think all of those things really helped build those skills and helped me understand that there were things I could do you know, I wasn’t helpless.
Cindy Lopez:
So Sarah, I know that our listeners would love to know how your son is doing now. Yeah so he is doing amazing. He loves school. He rides the bus every single morning. He’s able to be mainstreamed for a few things like PE and specials, music, things like that, and he loves those. I get a lot of feedback from his mainstream teachers that he’s so well behaved. He goes with an aid. He’s receiving specialty services in like a self-contained class. He’s starting to speak in full sentences, he’s able to communicate so much better verbally, likes the typical things that a six-year-old likes, you know, likes to go to the park, likes to run around.
Sarah Knepper:
He has a communication device now, in which like, if he’s not able to tell it to us verbally, he can actually go on a device, electronic device, and he’s learning to use it a little bit better now, but he’s able to kind of show us what he needs, but to be honest the verbal communication has like developed in leaps and bounds. And, you know, he has a brother and he’s starting to play more reciprocally with his brother, so he’s doing really well. And I don’t know that I would’ve expected the kind of progress that I’m getting. His grandparents who see him every few months are always commenting on how amazing he’s doing and so it’s just been really great.
Cindy Lopez:
Does his brother understand what’s going on with him?
Sarah Knepper:
His brother’s three, not really. Although we have started saying, you know, Harrison has special needs, he has a disability and you know, Maxwell doesn’t really understand what that means yet, but it’s I think important to start using the term disability so that he is used to the word. Maxwell actually attends a full inclusion preschool that has other students with disabilities. We picked that for a reason so that have some empathy and develop empathy for all sorts of different kinds of, you know, students with disabilities.
Cindy Lopez:
So also early on you mentioned that there are some things that when you found out, right, okay so he has this genetic thing going on. He has autism going on. He has an intellectual disability. Because of your own training and experience and working with schools and working with kids with disabilities, you were able to set some perhaps realistic expectations and also setting realistic expectations perhaps helped you and your husband to understand it in a different way, perhaps to cope in a different way.
Sarah Knepper:
Yes, I would definitely say that my background in special education has helped me set very realistic expectations, and I would actually advise any parent with a child with a disability to set realistic expectations, to kind of look at the rate of progress that they’re currently making and assume that’s the future rate of progress. I mean, it’s somewhat rare for accelerated progress. I mean, I’m not saying it’s not possible, but I mean, there’s going to be different times in the child’s life where they’re going to make more accelerated progress and times where they don’t.
Also I think seeking out a diagnosis is very important. It really helped me come to terms, with what I was dealing with and what we were going to deal with and how Harrison would look and what would help him, and I can’t say enough about when you visit specialists for other parents dealing with this, write out things that you want to know about, write out the questions, try to understand what their specialty is and what they’re able to give you. And then also the vocabulary make sure that you understand what they’re saying to you and if you don’t ask, don’t be afraid. I mean, the thing is when you go into those appointments, it’s in a fog and so having that kind of visual support for yourself is so important. And I would just like check it off, check it off as I went.
The other thing, and I can’t stress this enough is to go to every appointment with facts, observed data that you maybe have observed over the past few months or whatever. I would maybe say how I was feeling, but I would always have these like either anecdotal data, sometimes I had actual data, you know, dates and times and counts and all of these things that I think, you know, as I was given feedback from the doctors that it really helped because it was things that they could latch onto, and we could kind of see from one appointment to the next what this data was.
I also in any kind of IEP meeting in which I’m talking to specialists, occupational therapists and speech therapists, I’m always looking for like, how are they interacting with him? What do they think? How did they feel his strengths are? You know, because I’ve learned as a special education teacher, it’s all about using a child’s strengths to then kind of move forward in progress, and so it’s been great to hear all of the wonderful things about him and it’s also really uplifting, you know, to hear the good things that are happening and the things that they appreciate and value and love about your child.
Cindy Lopez:
Yeah, that’s so heartwarming. Any final thoughts you have about that or what you hope that parents walk away with after listening to this episode?
Sarah Knepper:
Yeah in a nutshell, I would say seek out a diagnosis when you can. I mean, for me, especially, it really, really helped with that coming to terms with what was going on and also advocate for the things that you feel that your child needs. And you might be told no, I’ve been told no many times and usually, when I’m told no, you know, I’m given a pretty good reason why the answer is no like when I wanted to increase the speech therapy time and they told me no and here’s why, it made sense, right. But I still asked, and there have been many times in the journey where simply asking was able to just get me the result that I needed right or that I felt was important. And so just having that really good relationship to speak up and say what you feel like you need. And then if the answer is no, then it’s no and if you feel like there’s other things, other pathways around that, but still the point is I think, just to ask, and to understand better what services and goals and things like that your child needs. The last thing, really helped me to seek out the opinion and the advice and the experiences of other people going through the similar kinds of situations. It gave me a lot of comfort. It made me feel like I wasn’t alone, because all around me, my friends’ childrens’ were developing typically, and that gave me some amount of grief and to have a community of people that experienced similar things that I did gave me a lot of comfort in those kind of dark times of anxiety and not knowing.
And then, you know, I guess finally, finally is I’m open about Harrison’s diagnosis. I tell other people, my friends’ and people that we meet, colleagues that he has a disability. And I feel that it’s very important to name that he has a disability. I try not to couch it in sort of these like terms like special needs or different needs.
I mean, the truth is he has a disability. There’s a lot of ways that he is going to be able to move forward in this world, but he does have a disability and just like, with people, with physical disabilities, there are going to be certain tools that he’s going to need.
Cindy Lopez:
Well, thank you so much, Sarah for sharing your story with us. To our listeners Sarah mentioned Esther B. Clark school a couple of times where she works. So Esther B. Clark or EBC is one of the schools here at CHC and specifically for kids with more emotional, and behavioral challenges. And anyway, if you’re interested in that you can find out more on our website, chconline.org.
Also, Sarah referenced that parent Facebook group. So one of the things that we know for parents is that kind of peer support is really important, we do have parent support groups at CHC so you can check those out online as well. You can access our clinical services and ask for a free parent consultation. You’re not quite sure what’s going on, you just want to find out more, talk to one of our clinicians and they can give you some advice and guidance regarding next steps. So there are resources out there. Sarah mentioned some at the regional centers here in California. Sarah, thank you so much for sharing your story and to our listeners thank you for joining us, and we hope that you’ll listen in again next week.
Sarah Knepper:
Thank you.
Cindy Lopez:
Visit us online at podcast.chconline.org. Make sure to subscribe to Voices of Compassion so you never miss an episode and we’d love it if you’d leave us a rating and review. Have a question? Send us an email or a voice memo at podcasts@chconline.org. We’re here for you when you need us
