Emily Gerst: A conversation about the impact of the Skraban-Deardorff diagnosis and advocating for our children

SMILES INCLUDED: EPISODE 2

Emily Gerst is the mom to Cecilia, an 8-year-old girl with Skraban-Deardorff Syndrome.  We had a great conversation about the impact of getting the diagnosis and what it has meant for our children.  Emily shared stories about Cecilia that highlighted the personality of the little girl behind the diagnosis and I shared some similar stories about Joe.  

We are just two rare mamas raising our kids as best we can and sharing some advice…and hopefully some inspiration…for other parents going through similar experiences.  Cecilia even tells us a joke in this podcast!

If you are diagnosed with Skraban-Deardorff Syndrome or you are the caregiver of a person with Skraban-Deardorff Syndrome, please connect with us!   Our community can currently be found on Facebook at “WDR26-Related Diagnoses”. You will need to request to join our private group - we will be happy to support you and your family.

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. Welcome everybody. 

EMILY B: I am very excited for our guest today. Her name is Emily Gerst and she is the mom of one of our Skraban-Deardorff superheroes. We have never met in person, but I have seen tons of photos of her beautiful daughter on our Skraban-Deardorff Facebook page. We'll have the address at the end of this episode and in the shown notes for anybody that's impacted by Skraban-Deardorff and would like to join the Facebook community. I am hoping you find this conversation as informative and helpful as I did. It took on a life of its own, went way longer than anticipated, but we get into a lot of great topics and it's really a conversation between two moms that have rare disease children at different stages of their lives and they're impacted very differently by the disease. 

INTERVIEW

EMILY B: We had some minor technical difficulties so audio is not at 100% but thank you to Emily for dealing with that and for getting us through it. Please enjoy the conversation. Welcome Emily and let's dive right in. So please tell us a little bit about your daughter and about your family. 

EMILY G: Sure. My name is Emily Gerst and my family and I live in Wisconsin. I'm a music educator so I previously taught general vocal music in a public school district and I'm currently a self-employed piano instructor. I have one child, she's eight years old, her name is Cecilia and we typically call her Cece. She was diagnosed with Skraban-Deardorff syndrome in May of 2020.

EMILY B: Oh so you have a relatively new diagnosis considering the age of Cece? 

EMILY G: Yes, yes it's been quite the journey. 

EMILY B: Yeah so did you do genetic testing earlier and then just recently get the results or? 

EMILY G: It was a long journey so I guess to back up a little bit, I was just discovering exactly what she would look like and what her deficits were. I had an uneventful pregnancy and Cece was born the day before her due date. She's this little, tiny six pound baby super sweet and as she got older I mean she wasn't exactly missing milestones but they were definitely on the later side of normal. Like she was crawling around 10 ½ - 11 months, or she was walking around 16 ½ - 17 months. We were just kind of in this gray area because you know nothing about that is super startling but it is kind of borderline, and she was growing but she always remained at the bottom of the growth charts - like second percentile. So as a first-time mom it's like I'm just trying to be patient and respectful, give her the time she needs to grow and thrive, but I had that uncertainty in the back of my mind and when she was two, it was like her words just weren't coming very easily. She had a couple of single words, but she wouldn't use them regularly or consistently so that's when we got our assessment done by birth to three, and there the results of their evaluation was that she qualified for speech therapy, but she didn't qualify for other services. There was that slight deficit, but the deficit wasn't great enough to receive services. I did enroll the two of us in this small group yoga class with a birth to three physical therapist because I just figured that the extra help wouldn't hurt. Then when birth to three came to a close our speech therapy services were transitioned to our neighborhood school, and I had her reevaluated and once again she didn't qualify for any additional services, so I pursued clinical therapies, and they were able to see her for speech therapy, occupational therapy and physical therapy. That's the beginning of our journey and that's why genetic testing wasn't necessarily something that was suggested by her team. We were just hanging in that area where she wasn't necessarily meeting those general milestones but at the same time there just there was always that concern in the back of our minds. 

EMILY B: This is fascinating to me because we had met with Dr. Skraban when we first got the diagnosis and had heard that kids fall all across the spectrum and my son seems to be sort of right in the middle and your daughter seems to be on the higher end of the spectrum where she is developing a little bit faster on that end so it makes it – it doesn't make it - harder to notice that she's not developing at the perfect rate which there's never a perfect rate but she's also your first child. Were you getting a lot of the “she'll catch up” from your doctors and friends? 

EMILY G: Yes absolutely and again just like being that first time parent and trying to be respectful of her, that's tough because you need to know when to push and when to back off and relax a little bit so that's why the journey did take as long as it did. But we did learn a lot when she started school. Cece participated in half day four-year-old kindergarten at our neighborhood school with her same age peers so she received those pull-out speech therapy services and then she went on to full day five-year-old kindergarten again at our neighborhood school same age peers but in addition to the pull-out speech therapy services they began to incorporate some specialized instruction for both reading and math. Because this was when we were able to see that her academic ability was measuring below grade level so that same model has continued going forward in the fall she's entering third grade which is insane I mean time really does fly, but it's exciting too and it's been really fun to see what we consider to be really great academic gains. Right now, Cece knows her letters, she knows her letter sounds, and she's able to construct simple words like “cat” or “hug”, using movable letters like the magnetic alphabet or whatever. She can also piece together short, full sentences using movable words. She knows some of her sight words she can point along as she as she reads which is really just pre-reading short repetitive texts like “I see the dog; I see the bird” which is really exciting to see some of those skills coming through. Math is definitely more challenging for her. We're working to solidify her knowledge of the numbers 0 through 20, which has been our goal for a while. Those team numbers are our trouble. They are so difficult to teach. But she loves working with shapes and patterns. And then we recently also added this awesome social skills goal. And I'm really thrilled with this one because she's working to become a more active participant in conversation. She does have speech and language challenges, but she does speak. What this goal has looked like in practice is that she has this this weekly social group and it's led by a regular classroom teacher, and there's one other student in the group. The teacher prepares this very short lesson plan which includes some sort of prompt that the kids are supposed to prepare ahead of time. This one week the prompt was sharing a joke -that was the hardest thing. Emily, we took this simple joke and we practiced it for three, four, five days straight. I mean it was it was somewhat torturous. But she did it she accurately told this joke to her classmate. And it was awesome. 

EMILY B: So let's listen to Cece tell her joke. 

CECE: Why did the cookie go to the doctor? …Because it felt crumby!

(Laughter ensues from host and guest)

EMILY G: Oh, so like you know we were just scouring through all of these different jokes and that was the one she arrived at - and we practiced it for so many days and it was it was one of the most challenging things that we had to prepare for this social group. 

EMILY B: It's just amazing to me that your daughter can tell a joke and I just can't imagine the patience it took to get her to that spot. One thing I've learned with this diagnosis is that I have zero patience. I guess I've always known I've had zero patience, but it's definitely been reinforced as part of this overall diagnosis and experience. 

EMILY G: Do you want to tell us a little bit about Joe's diagnosis? 

EMILY B: Sure. Joe was my first child, and he was diagnosed in 2021 during the pandemic. But we've always known he was severely delayed. Everyone called him a floppy child just because he had very low muscle tone. I mean even in daycare; he all his all his friends were walking and he was not even crawling. I mean he was pushing his body along the ground to get places and I just remember thinking what do we do about this? We had him in the birth to three program and I remember when we first met with the birth to three people I felt like I really had to make my case about why he needed to get these services. It's like I needed them to see that he needed these services when really the birth to three person that was looking at him was probably saying “wow this kid really needs these services.” But I didn't know because he was my first child and I was like he's a little delayed but we did PT, we did OT, we did speech and it was just going through all these all these services and knowing that he's falling behind and having no idea why and everybody including our neurologist kept saying don't worry he'll catch up and my favorite was they kept saying well imagine you know having a 30 year old but he's acting like a 28 year old you'll never know the difference. 

EMILY G: I've never heard that point being brought up before. 

EMILY B: Well that was them saying like he's just a little delayed and it'll be fine and you're right that's not what they should be telling us and so it's like every like six months we get his you know his scores on how he's doing in the birth to three program and he barely even made it one month so it's like the he'll catch up was not working. 

EMILY G: Right, you're just getting further and further behind. 

EMILY B: Exactly and nobody could tell us why and my son was having seizures as well and that also was another indication that we knew something else was going wrong. Was Cece having seizures? 

EMILY G: She did. Her seizures started when she was about 16 months old and it started with febrile seizures, so the first time that she had them she actually had four seizures within 24 hours and it was absolutely terrifying and then for the next couple of months or so we had a little bit of seizure activity but they were often written off as febrile like “well she has a mild ear infection so it's probably just a febrile seizure” and again that's something that's somewhat common so you're still in that same gray area you're not necessarily getting to the root of the issue here but eventually she did have seizures like almost every two weeks they weren't accompanied by illness and we were able to get her epilepsy diagnosis by means of an ambulatory EEG. Her seizures responded to the first medication that we tried and it appears she's been seizure-free ever since and that whole nightmare of an experience took place over the course of a half a year and she still remains on that same original medication just with a few dosage adjustments because of growth. 

EMILY B: Yeah, that's similar to our experience that we probably had about a year of seizures and at some point I'm hoping doctors realize that seizures, delayed development, not speaking, maybe we should be pushing for genetic testing and not making the parents ask for that because it's just all these are indicators that there's something else potentially going wrong. But we have been lucky that for the past year, the medication has helped Joe and his seizures have been under control, but I have major PTSD from those seizures. I mean, it's the most helpless experience. I mean, we slept with Joe for over a year in our bed because he had seizures at night normally and I didn't know when he was going to have a seizure and I didn't trust him to be alone and I didn't trust any of these cameras and when we bought like pillows and sensors and all these sort of things and none of them, I think the sensors actually caused more harm than good because they were always a false alarm. But the more seizures he had, the more we knew that there was something wrong. So, what made you decide to get the genetic testing? 

EMILY G: Well, you know, Cece continued living in like that gray area where she was just on the borderline and when she was around five, that's when her lower academic performance really showed through. We did bring that concern to our neurology team and they were actually the ones that encouraged the genetic testing. In the fall of 2019, we began with that introductory chromosome microarray testing and that came back normal, nothing of note. And then at this point, the genetics team also used a program which analyzes a patient's facial features and suggests possible diagnoses. Did you have any experience with that? 

EMILY B: No, I've never even heard of that. 

EMILY G: It's really interesting. They can't use it to create an official diagnosis, but they use it as a tool to like help that process. The results of that test, it wasn't like a huge talking point in our appointments, but looking back on those results, Skraban-Deardorff syndrome was there as a possible match, which I think that's really fascinating that just by looking at a photo of her face that identification could be made, but a lot of us look at pictures of similar-aged kids and it almost looks like they could be siblings because they have those same prominent features. 

EMILY B: Exactly. 

EMILY G: Yeah, so we didn't have a diagnosis yet, but the local genetics team that we were working with felt like there was enough of a cause to pursue whole genome sequencing and they were able to cover the cost of the test. And then finally, in May of 2020, it was a little delayed because of the COVID shutdown and everything. May of 2020, Cece received her Skraban-Deardoff Syndrome diagnosis, and she was six years old at the time. 

EMILY B: What was your first reaction? 

EMILY G: At the time, it was a feeling of relief. I know that's different than what a lot of other family’s experience, but Cece was six and we had been living through all of that uncertainty during the early years. She had this random smattering of symptoms, and we didn't know what was at the root of it. And it's hard to treat something when you don't know what it even is. And then also to get therapies and services without any label to justify the need, that's a big challenge for families as well. We finally had our answer and that did give a sense of relief. Diagnosis is such a strange experience because in front of you, you have the same kid, nothing about them has changed at all. Yet when your team shared this detail that's been there all along, it does feel like it changes everything. I know in the rare community, families frequently use the word grief to describe the process that they go through and hopefully reach acceptance and peace with the diagnosis, but I can definitely identify with that. What about you, Emily? What was your experience with Joe? 

EMILY B: Yeah, I mean, as soon as we got the diagnosis and I read all the symptoms, it was exactly Joe. So again, we felt very similar to you that there was a bit of relief, but I definitely felt that grief. But it was somebody else in the rare disease community that told me it's okay to grieve the diagnosis. And I needed somebody to tell me that because I was trying to be strong and say, this isn't going to change so much. We already knew who's a bit delayed. I'm going to be strong for Joe and carry on and be happy. And luckily somebody gave me that permission to grieve because I needed that. I definitely grieved for, and I'm still grieving. I'm still going through all the processes, but we've reached acceptance, but I definitely am still focused on the anger portion of the whole grieving process. And I'm very angry that Joe is impacted by this disease. He's not going to have the same opportunities as other kids that are his age, and it's going to be a struggle for him for the rest of his life. And I'm angry that he has to go through that. But I think one of the best parts about the diagnosis is how happy our children are, and that helps me get through it. What about you? 

EMILY G: Oh, absolutely, absolutely, 100%. I mean, I've reached peace with Cece's diagnosis, but the grief definitely still pops in every once in a while, especially if I'm looking too far into the future. If I'm worried about what adulthood is going to look like for her, or who's going to help support her when I'm gone, I mean, those things are really heavy. But I even had this experience when Cece was first diagnosed. She and I were just in her room, cuddling, reading books, that sort of thing. It was a really nice moment. And I don't know, the weight of it, of the diagnosis just felt really heavy I guess and you know I had some tears in my eyes just general worry and Cece is so empathetic she looks straight into my eyes and gets like uncomfortably close to my face and she strokes my cheek and gives me a kiss and she says be happy be happy and you know in that moment we were so well connected and it's like there are definitely some challenges along the way don't get me wrong but that connection that we have kids is so powerful and that's something that we should be celebrating and not something that we should necessarily be upset about and grieving. That was just that was a really impactful moment to me that that just really strong connection with Cece and you know just as long as she's connected with her people I feel like she will be okay. 

EMILY B: That's something where we're getting to that point now. It's like we have so much support from family and friends and the rare disease community in general I'm like Joe will be okay. 

EMILY G: I'm so glad that you feel that way because there really are some great support people. People are good and they want to be part of our lives and there's a lot of power in having that community behind your child. 

EMILY B: And did you know anybody else that had a rare disease? 

EMILY G: You know I did actually so even just through our years of doing various therapies and things you know connecting with families while you're in the waiting room that sort of that sort of situation and it seems funny to say but rare disease is a lot more common than you might think when you when you put that whole community together so I've been lucky to meet families that you know are giving it their all and fighting so that their child can have the best outcome that this life can offer. I mean I even knew families that had used to the same genetic testing team that same team to complete their testing and so we knew exactly what to expect from that but you know when you meet these beautiful rare children they have their own unique personalities and their likes and dislikes and their own sense of humor like having those personal connections really made our journey feel more normal and more comfortable and it gave us people to lean on. But I also want to mention that nephew that is four years younger than Cece and he's the first of my three amazing little nephews that I'm just beyond lucky to have. At my sister-in-law's 20 week scan they discovered some abnormalities and the unborn child was diagnosed spina bifida which is a defect that affects the spine and it was really scary they had to decide quickly how to proceed with his care and they ended up doing this really fascinating fetal repair surgery and I mean the full details are - it's not really my story to share here - but it was successful and he's now four years old and he's doing many of the things that we weren't sure that he'd ever be able to do. Sure things look a little bit different and they can require a ton of work to get there but he is such a cool kid and it's been a great privilege to witness his accomplishments and be part of his journey too and his diagnosis would have been late 2017 that's when they did his surgery and he was born in January of 2018 so that was like a year before we even dove into any of the genetic testing with Cece. 

EMILY B: I've heard about this fetal repair I didn't realize that it was back in, I thought it was a brand-new opportunity that I've heard about so it's amazing that you know two or that's four years ago by now your sister-in-law was able to take advantage of that and it worked. 

EMILY G: Isn't that neat and you know it's one of those surgeries that they're constantly refining it so it has changed quite a bit even in those past four years but obviously you know it has really changed his story and given him access to some abilities that he likely wouldn't have had. 

EMILY B: Wow that's fantastic and are you close or is Cece close with her cousins? 

EMILY G: She has love for her cousins. They are wonderful I have three nephews they're all younger than she is. The nephew that I just referred to he also has a younger brother and they live in Wisconsin and we live in southeastern Wisconsin so getting there involves like a hundred and fifty mile car ride which isn't too bad but it just means that most of the time when we get together it's for a few days and the kids get to have their sleepovers which is super fun and then I have another brother who lives fairly local to me and he has this wild hilarious extremely vocal two-year-old so there are times that we end up seeing them like every other week, we see them pretty frequent - go the zoo together go for hikes, that sort of thing. So Cece kind of gets that taste of a sibling sort of relationship with him you know she's an only child and he's an only child so it's so fun to see the way that they interact together and how a typical child perceives someone who is a little different than when you might expect. 

EMILY B: I love to hear that. I mean we were living on the West Coast when we started to get the birth to three report cards showing that Joe was falling further and further behind and at one point we just said we need to move back to the East Coast be closer to family was pregnant at the time we were making this decision so I knew that Joe would have a little brother to help him but I knew he needed more support than that and I wanted his cousins to be around to help him because one of the biggest fears that I have is bullying and I am I don't know why I'm so afraid of bullying for Joe because he's such a happy kid that I can't imagine anybody being mean to him, but it is a fear. 

EMILY G: It's a fear for a lot of parents. We've been lucky to have very, very few issues, at least during these first eight years of her life. But you know, for the most part, kids are very, very kind. And I feel grateful for that. Right now, I do find that kids like kind of want to take care of her, which sometimes she likes, but oftentimes she doesn't really like it. Simple things like helping her put on her backpack. She might say something like, “no, I do it” or something like that. It's nice to hear her advocating for herself. But you know, kids are just navigating how to interact with a kid like her. And I'm glad that they react with that, that kindness and helpfulness, because that's such a sincere way to react to someone like her. I also find that sometimes, especially if I'm there, a kid will be naturally curious about something and they'll want to know about Cece. But instead of asking her directly, they'll ask me the question. So even the simplest things like, does Cece like such and such movie? Oftentimes they'll ask me instead of her. And part of that is because she's learning to find her voice in conversation. And she doesn't always consistently respond to kids. But I am trying to encourage conversation with her and her peers rather than getting into the habit of speaking for her, it takes a lot of guidance. And she has to find those ways of making herself understood. 

EMILY B: Yeah, we're having a very similar experience. We're heavily focused on trying to help Joe communicate with AAC at the moment. And he's got a device and a book. And it's with both kids and adults that we keep having to remind people not to talk about Joe, but to talk to Joe. And so we're all trying to use these AAC devices to have conversations and normalize it so that he's not in a room hearing us talk about him and not participating in the conversation. Because one of my fears is for him to start talking in a couple of years and say, Mommy, you always talked about me. You always said I was delayed or you were talking for me. And that's and I just want to make sure that he knows that we expect him to communicate with the world and for us not to speak for him. 

EMILY G: Yeah, you're absolutely right. You just have to assume that they understand and absorb everything. And I think it's incredible that you are able to model to him how you can use a device to communicate effectively. That's such an important thing. It's not something that's just specific to him. It's not just his tool, but this is a tool that the general population can use to communicate effectively. I think you're that's awesome. You're definitely doing the right thing. And I'm impressed. 

EMILY B: Yeah, we're trying. It's basically like a new language. We're all learning. 

EMILY G: Is it pretty new? Have you been doing it for long? 

EMLY B: We've been doing it for about six months now. But it's a very slow process just because cognitively, you know, Joe is a lot of times not understanding what we are trying to get him to do. But he is a sponge similar to what you were just saying, he's a sponge. I know the more we model and the more we use it, the more he is understanding and starting to pick things up. So he's starting to use words and pointing towards more and more. I know we'll get there. 

EMILY G: That is so neat. Finally, being able to unlock some of his thoughts. There's nothing better. 

EMILY B: Yeah, and we feel like he needs that communication also to be able to participate in other activities with his peers. We really want to we really want to get there. One thing I want to talk to you about is because I saw that Cece participated in a cooking class with kids her age and I want to hear all about it. 

EMILY G: You know, that was the coolest thing. Cece took this cooking class. It's a kids cooking camp that's intended for ages 8 through 12. It was just like typical kids at its class. And they made black bean and corn salsa. They made chocolate dipped pretzel rods. And the instructor met with us ahead of time to, you know, better understand the Cece's needs and what kind of modifications she might need along the way. The instructor ended up inviting me to stay for the class. But honestly, she did not need me there. Directions which included chopping, stirring, basic measuring, a ton of hand washing, which is a battle around here. Sometimes she wore food prep gloves, that sort of thing. And she was so successful and had an absolute blast. We'll definitely be back. It's just one of those things that you can sign up and pop in pretty much anytime. I think we'll be back for a couple other classes this summer too. But it was to see her thrive in a typical setting and cooking. She loves cooking. She has a strong interest in that area. But you know, that also carries over into just daily living skills. And that's something that will carry through into adulthood that she can prepare her own snacks and simple meals. That was a really cool experience. 

EMILY B: And I just loved seeing that I loved seeing her with her peers. When we were first trying to get Joe into activities with his peers, you know, we started to put him into soccer. And there was a special needs soccer team and a regular soccer team. And, you know, he's four. And I don't know why I thought I should be putting him in the special needs group. And thankfully, somebody talked me out of that. And I put him into the four-year-old soccer with his peers. He went out there the first day and was having so much fun. Occasionally he would run off and start crying or maybe run in circles and go nowhere near the ball, but 10 out of the 20 kids that were on the field were doing the exact same thing. I'm so glad that I didn't separate him from his peers and that was a lesson that I learned very early on. I'm like he needs to be with his peers and I'm going to be doing that moving forward. 

EMILY G: And how cool for you to see that? 

EMILY B: Oh I was in tears the first game. 

EMILY G: I'm sure. 

EMILY B: I'm trying to hide it, but it was just so nice to see him just running around with his friends because it was also right after the pandemic so it's hard to see him with his friends and it's hard to know what actually happens and how he interacts so it's so great to see that. 

EMILY G: Mm-hmm. We had an experience kind of like that so you know. I first of all want to say that I feel grateful that I really don't have to fight to have her included in things with her same age group. I mean a lot, inclusion is such a big topic right now and oftentimes people will go the extra mile to make sure that your kids' needs are met in a typical setting. A few summers ago now I enrolled Cece in this tumbling class and it was the same-aged peers. She had shown interest in that sort of thing, so we just decided to give it a shot and that girl did not participate in the majority of the class. I mean she was just running around, she was in front, dancing, giggling to herself while the other kids are lined up and taking turns doing somersaults and cartwheels and all sorts of crazy things. But you know, the studio did a great job with her behavior. She was basically paired with an older student from the studio who tried to help guide her through the activities. It was a little difficult to watch, especially they had this showcase at the end of the session. It was just like this little six-week session of classes and she goofed off the whole time but you know she was happy and that's Cece. She's not troublesome or outwardly disruptive but she does tend to get lost in her own world and she finds her own fun along the way. So overall it was still a really positive experience and the feelings of discomfort that I had were my feelings. I own those feelings. She was happy, the other kids were happy. It was just me kind of projecting my own feelings onto the situation but now looking back on it I wouldn't have done it differently. I'm glad that we had that experience and it's something that the entire community can benefit from. Cece benefits being with peers, the other students benefit experiencing what it's like to be with someone who's different from them and you learn a lot too. Both the parents that are observing and the instructors who are leading this varied group of students there's so much that we can learn in these situations. 

EMILY B: Yeah, I agree, and I understand your discomfort and I'm still there where I'm in the apologizing stage when Joe is you know not following directions or not even doing what everybody else is doing. I'm like I'm sorry I'm sorry and I need to get over that and it sounds like you have gotten over that. 

EMILY G: Well, I'm trying you know for the most part I try to focus in on her rather than the situation itself so leading with the things that that make her awesome. I mean she is happy and silly and empathetic and she's kind and those are the things that I need to lead with when she's meeting new people rather than well this is going to be hard for her or she can't do that because is listening in on all of those conversations and I don't want my fears to be what hold her back - that is definitely not fair to her. 

EMILY B: I agree, and I need to I need to get there. I do want to go back to school for a bit because you had mentioned to me offline that and I want to get this right that you completed training to become a district family engagement liaison. What is that? 

EMILY G: Yes we've got it. District Family Engagement Liaison (DFEL) we typically call ourselves it's this training and that's designed for parents of special needs students and the goal is to create strong partnerships between families and the district. So as a DFEL I'm available for families so they can reach out to me regarding special education and then I also participate in our district's pretty sizable family engagement team so it's this team that's led by our direct administration and it's made up of other administrators and various staff members like special ed teachers regular classroom teachers specialists and then us DFEL's. One of our main goals as DFEL's is encouraging that collaboration between families and school staff. Like in my case the school staff members that my daughter has contact with those people are an extension of our family. She attends a pretty large elementary school, but everyone knows Cece - even her principal served on her IEP team, and you can never have too many people on your kids team. I think it's also important to find ways to communicate well with your team and make sure that you have a solid plan in regular communication about your child's progress. For someone like you Emily that's going to be especially important because as you get into those school years you have that speech and language barrier with Joe but you still need to be informed about what's happening in school. Some teachers prefer email, some prefer phone calls, but communication logs iron those details out ahead of time so that you know what to expect and when you will receive communication from the team. I remember when I first sent Cece to 4K that it was such a big experience for us. She didn't participate in daycare or anything, so this was her first big experience outside of home. I came and picked her up from school. All the kids were outside and I didn't have access to the teacher afterward. She was talking with other families and whatnot. And so we waited, we said our goodbyes and left. And when I got home from school, I asked her about her day. And at that time, she really couldn't tell me much of anything. And that was hard. I had no idea what her experience was like - if it was good, if it was bad. And it's hard just living in that area where you don't feel connected to what your child is doing at school. So eventually we got things figured out and came up with an awesome communication plan. But that particular day was challenging. I was definitely in tears just having no clue what was going on. Making sure that you have that communication plan in the works, you know what to expect. That's such an important detail of your child's school experience. And don't just reach out to the team when there are issues, be sure to celebrate your child's school accomplishments with them too, because your child's accomplishments are their accomplishments too. Make sure that it's a relationship that doesn't focus on the negative and you're creating those connections to the team as well. 

EMILY B: I already need to take this advice because I have my son in pre-K with the school to help prepare him for kindergarten. And we get updates at the end of the day from the teacher about what happened in class. But a lot of those updates are we said our ABCs and we drew on this. And I know that Joe did not say his ABCs. I don't really get an actual update of what did Joe do that day? And what should we celebrate? 

EMLY G: Yeah, that personal update. 

EMILY B: I mean, I should be celebrating when he does something great. I should know if something happened that we should focus on. And at the moment, I'm missing out on those opportunities. 

EMILY G: Those conversations can be a little bit awkward at first, laying out the expectations, but it will be so worth your time to do. Just see what your educator's preference is to, so that you can make it something that's comfortable to them and meet them halfway. Another thing that DFELs do is provide access to resources. I'm not going to claim that I can solve everyone's problems, but when families do reach out with issues, I can oftentimes point them in the direction of resources that might be helpful for their specific situation. For example, if they're preparing for an upcoming IEP meeting, I can kind of guide them through some brainstorming, help them identify their child's strengths, their concerns going forward, that sort of thing. Or if there's a bigger issue with their child's care at school, I can help them get in contact with the right figures, kind of going up the ladder of communication in the district or refer them to other organizations that will help mediate the more complicated issues. But you know, for DFELs, oftentimes, families just need some peer support. We can offer that. And many of our special education families feel isolated during this process, and they might not have people in their lives that they feel comfortable opening up to and venting to. Those sources of support that you have had in your life for years and years, they might have absolutely no clue where to begin when it comes to offering advice about raising a special needs child. It's such a different experience. I think that it's important for families to have access to peers that they can connect with, and DFELs are well-informed peers. Instead of just listening to their complaints and adding on to their complaints, we can pose things a little bit differently so that they can be more productive and work toward a more positive educational relationship for their child. 

EMILY B: I have to find out if we have something similar to DFEL. 

EMILY G: I'm not sure what other states offer, but my answer to it is if you have the opportunity to learn anything more about navigating special education services, just do it. Honestly, it will be so worth your time to know more about this experience. And even through the training, I've learned a lot about the IEP process in general. Remember, the IEP is like that individualized education program. It is an actual legal document created for each special education student to help guide their experience. I've learned about writing effective goals and preparing for transition years and all the legalities and learning about college and career readiness, which I hadn't really thought about at this point, but it's actually really, really interesting to see what sorts of supports are in place for these kids as they get to adulthood. And not all of this information was brand new to me, I did complete my graduate level teaching certification and in music education. So we all dive into at least the basics of special education, but even the information that wasn't new to me, it sits a little bit differently now from the parent perspective anyways. If you have any opportunity like that, definitely take them up on it. 

EMILY B: Yeah, I definitely am going to look at this because I think it's just so important to talk to somebody who's gone through it. I do trust that the teachers have Joe's best interest at heart, but they may not understand what's best for him. So talking to someone that's gone through it and someone else who has a rare child as well, I think is really important. 

EMILY G: I've met some of the most amazing people in my local area that - whether they’re educators or just really strong parents - they have such great advice to give to people like me in a variety of situations and kind of know some of the players that I'm working with as well. And so I think that experience has been extremely valuable to me personally. 

EMILY B: Yeah. This is really helpful to hear from you. Let's go back to the diagnosis and after you received it, was there anything you would have done differently after receiving the diagnosis? 

EMILY G: Not necessarily, but I do think that we, as our little Skraban-Deardorff Syndrome community, can pave the way a little bit better for our incoming families. When you do the web search for Skraban-Deardorff Syndrome like we all do, the hits that you get are like clinical descriptions of the disorder, a few research papers, that sort of thing. That information definitely has its place. Don't get me wrong. We families need that information. Our local health care providers who are just learning about their patients' new diagnosis - they need this information. But I think that we could afford to supplement or diversify the conversation to include the beauty and personality behind all of this, really embracing the individual smiles behind our Smiles Included line. And I would love for new families who just received this daunting diagnosis, you know, they hop online after their genetics appointment and not just find the clinical information, but our stories. And that's why I think that this project that you're leading us through Emily, I think it is important and I think it's necessary. You know, I remember when I first got the diagnosis, I stumbled upon something that was impactful to me. After receiving the diagnosis, it's confusing because your local health care providers can't tell you much because they don't know anything about it. 

EMILY B: They're reading the exact same thing on the internet. 

EMILY G: They sure are. And maybe they can comprehend it a little bit better than us. But that's about it. After our diagnosis appointment, I just immediately felt overwhelmed. But at the recommendation of our area genetics team, I also joined our Facebook community. And I waited for approval, finally got my approval, and I just scoured through all of these posts. And I must have been on there for a really long time, because this would have been May of 2020. And I found this post from December of 2018. And it was a video of this girl in our community that her mom posted. I won't use the name, but maybe some of our active community members might know who I'm talking about. This girl is like five years older than Cece, I think. And in the video, she's in this school Christmas music program. And she's up on stage with her peers. They're all in costume. They're singing together. They have the cute little choreographed moves, you know the deal. And this girl from our Skraban-Deardorff Syndrome community, she's up there with her peers. She's singing her heart out dancing to her own beat. She's smiling, having the time of her life. And that made me tear up because that is so my Cece. Seeing this girl up on the stage, she has that same spark of joy, love for life that so many of these people share. And it's the coolest thing to witness. I never told the mom exactly what that meant to me at the time. But we've since connected and had a lot of conversations about our girls. And she's become someone that I really look up to. I hope that our work with the Skraban-Deardorff Syndrome Foundation can help put forth that more personal image to the rare disease to help supplement the other information that's out there. 

EMILY B: I agree. I know which video you're talking about. And I'm tearing up right now thinking about it because I did the same thing. And it was just seeing some of these kids a little bit older and what they were going through and seeing how happy they are just gave me some hope. And I love all the work that the Foundation is doing. I know you're a member of the board that's working on it. I think it's really giving much more of a personality to this disease. 

EMILY G: Such an important step in the process. 

EMILY B: Yeah. And people are becoming much more active in the Facebook group I've noticed. And I love seeing all the new videos and I cannot wait for the family meeting to meet some of these kids in person. 

EMILY G: I haven't met anyone else. Have you? 

EMILY B: No I can't wait to see you in person, give you a big hug, but I cannot wait for our kids to meet. 

EMILY G: I just try to imagine it. But I think it's going to be one of those life experiences that you can't fully wrap your head around it until you're actually in it. 

EMILY B: Yeah, exactly. Well, thank you so much for your time. 

EMILY G: I'm just so excited about this project. It's such a cool idea to connect our families and our greatest strength is our community and we have so much to learn from one another. And I think we'll learn more about the medical stuff behind it and that will grow. But right now, the biggest impact for me has been connecting with the families. 

EMILY B: Thanks for listening. 

PODCAST EXIT: Please reach out if you have any other topics you would like us to discuss or if you want to be a guest on the show. If you are diagnosed with Skraban-Deardorff syndrome, or you're the caregiver of a person with Skraban-Deardorff, please connect with us. Our community can currently be found on Facebook at WDR26-related diagnosis. You will need to request to join our private group, but we will be happy to support you and your family. Talk soon!