Rare Disease Changed Us

In Episode 6 of Remarkable Futures, Steve Norton speaks with Rachel Malloy Jasiczek—mother, writer, and advocate—about her journey raising a child with a rare genetic disorder.

Rachel shares the moment of diagnosis, the uncertainty that followed, and how it reshaped her identity as both a parent and a professional. What began as fear and confusion evolved into a powerful commitment to advocacy—not just for her daughter, but for families navigating similar challenges.

This episode explores:

•  The emotional impact of a rare diagnosis 
•  Why genetic testing can be a critical turning point 
•  The realities of navigating fragmented support systems 
•  The role of advocacy in creating better outcomes 
•  How personal stories can drive awareness and change 

This is a deeply personal conversation that highlights both the challenges and the strength that come with raising a child with special needs.

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About Remarkable Futures
The Remarkable Futures Podcast is designed to help families make informed decisions about special needs planning, financial security, and long-term care.

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Transcript

Introduction – Special Needs Parenting Reality

SPEAKER_01 0:00

I think when you are a parent of a child with special needs or who is medically complex, like you don't necessarily have a choice. Your identity changes. And maybe you want it to change or maybe you're resistant to change. But me personally, I'm not by nature a person who wants to be adversarial or confront conflict.

Podcast Overview – Planning & Advocacy

SPEAKER_00 0:25

Planning for a loved one with special needs takes clarity and the right strategy. Remarkable Futures brings practical conversations and expert insight to help families protect benefits, build stability, and move forward with confidence.

Meet Rachel Malloy Jasiczek

SPEAKER_03 0:41

Hi, welcome to the Remarkable Futures podcast, where we are creating content to help special needs families navigate the issues that present themselves in everyday life for them. I am really excited today to have uh Rachel Yeshitsek with me. Um Rachel uh has a doctorate in rhetoric and composition.

SPEAKER_02 1:07

Yes.

SPEAKER_03 1:08

So I have to admit I have an undergrad in communications. It sounds like you have my degree, but on steroids. Uh so does anyone win an argument with you with if you have that?

SPEAKER_01 1:21

My husband would say he does at times, but you know, debatable.

SPEAKER_03 1:28

Well, what brought

Rachel’s Background & Family Story

SPEAKER_03 1:30

us together is I was genuinely moved by a piece that you wrote for the Connecticut Mirror. And uh we're gonna put a link to that below the description on on the podcast once it's posted to YouTube. But it was it, I found it quite moving. Um, and I I don't want to repeat what's in there, I want you to kind of share a little more in-depth of the story. Um, can you tell me about Laura Lye and and how things have evolved with her? She sounds amazing.

Lorelai’s Diagnosis Story

SPEAKER_01 2:02

She is, she's the best kid, she's so much fun. Um, she's five years old and she just started kindergarten this year. She loves riding the bus each day. That is a big highlight. Um, she's a very adventurous child and in constant motion, which sometimes is a challenge, but also leads us to a lot of fun adventure. So she's always wanting to try something new every day, it is an experience for her, even you know, simple things like going to the grocery store is very fun for her, getting to ride in the cart. So she's a kid who finds joy in everything she does, which helps us find joy in really simple things, you know. Um, but she has SYNGAP

The Moment Everything Changed

SPEAKER_01 2:50

1 related disorders, which is a developmental and epileptic encephalopathy, which is more than a neurodevelopmental disorder. Um, most of the patients have intellectual disability, they have epilepsy, most have an autism diagnosis, as well as a lot of other medical challenges. Um, but despite that, this is a kid who just loves everything and loves to give hugs and be around other people and just you know make the best of every situation.

What is SYNGAP1?

SPEAKER_03 3:25

And that's a rare disease.

SPEAKER_01 3:28

Ultra rare, ultra-rare, ultra-rare, which means there are fewer than 2,000 people worldwide diagnosed with this. In fact, there are 1,707 that we know of right now, but it's probably definitely underdiagnosed.

SPEAKER_03 3:44

And so when you say it's underdiagnosed, do you are there um other di misdiagnoses? I assume that does it mask as autism or does it mask as in in other ways?

SPEAKER_01 3:56

Well, the only way to be diagnosed is through genetic testing. So that's the only way you will know if your child or your loved one has SYNGAP-1-related disorders. My daughter happened

Misdiagnosis & Delays

SPEAKER_01 4:10

to get an autism diagnosis first, which then led us to genetic testing. Um, other families see seizure activity very early on. Laurealized seizures didn't start until around the age five. Um, so sometimes it's epilepsy which will lead to genetic testing.

SPEAKER_03 4:33

It's interesting with rare diseases, it seems like the vocalness of the lobbying has a direct outcome in support. And and I may be making a generalization of this, and I'll share a little bit of my personal background with it. My my father had ALS or Lu Garrick's disease, more commonly uh uh referred to as that. Um, one of the things that frankly helps people with ALS in terms of applying for Social Security disability related to a lot of the lobbying that the ALS Association um uh did to get that that diagnosis just an auto turn into an automatic approval. The other thing that I think helped with it, frankly, is that there's a a cluster or a concentration of diagnosed people that were veterans. And my father was a veteran as well. Um in with Synapse, you're um involved with Cure Synap 1, right?

Finding Support & Community

SPEAKER_01 5:39

Cure SyNgap One.

SPEAKER_03 5:40

SYNGAP 1, okay. And tell me a little bit more about how that happened.

SPEAKER_01 5:46

Right. So CureSyngap 1 is a nonprofit that is patient-led, but really parent-led, caregiver-led. Um they're an organization that's bringing together scientists, industry partners, families, clinicians to try to help find a cure for Syngap 1. There is no treatment right now for the underlying cause,

Why Parents Must Advocate

SPEAKER_01 6:10

which is a protein deficiency that our children have. Um, but this group is global now. However, it started with a family who got a diagnosis and there was no one else out there or just a couple of people. I mean, scientists to, you know, doctors, we're often educating doctors on what syngap 1 related disorders is. So it was a family that started, and they said we have to do something. No one's gonna work for this unless we push them and we drive this cause. So as it um started with some very tired, confused, anxious parents who have now led us so far, and that just um Cures and Get One started in 2019. So it's not that old of an organization, but we are looking at a clinical trial starting later, our first clinical trial starting later this year, which is really exciting. And parents

Research, Hope & Clinical Trials

SPEAKER_01 7:10

did that.

SPEAKER_03 7:10

And so the clinical trial is um there's a a drug, obviously, that's been being developed.

SPEAKER_01 7:18

Yes, um, a treatment that will hopefully increase the SINGAP protein expression and the deficient gene that our children and our loved ones have. So we all have two genes that produce SYNGAP 1 related or SYNGAP protein. Um, our children produce about half that amount needed. That affects it affects cognition, it affects, you know, memory, learning, behaviors, language. Um, most children with SYNGAP 1 are nonverbal for most of their lives or low verbal. So the treatment, uh, there's still a lot we don't know or waiting for details about where the clinical trial will happen. Um, but yes, it will be the first treatment. So we'll see how that goes to help increase that protein production. Um, we don't know, we don't think that the first treatment is going to lead to a cure. We still need more scientists working on this and looking into this and trying other therapies as well, but there's a lot of hope right there.

Genetic Testing Explained

SPEAKER_03 8:23

It's interesting. There's um so much going on with um development of different medicines that uh, for example, uh in my day job and helping people manage money, uh, there have been a couple of companies that we have followed that um are close to releasing drugs for muscular dystrophy. And um there's some remarkable treatments on the way, so it's it's great that there's some hope there.

SPEAKER_01 8:51

Absolutely. And I think it speaks to why it's so important for doctors to recommend genetic testing too, because when we received Laura Lyed's diagnosis of autism, we thought, okay, this explains this explains things. Um and our doctor said, well, you should do genetic testing. And honestly, in that moment, receiving that diagnosis was very overwhelming. Um in that moment, I was asked to sign papers to agree to genetic testing, and very unlike myself, I signed something before even reading it closely. Not me at all. Um, but all it meant was some tests were gonna come in the mail for us to do some swabs and send it back. So we could have decided later not to, but um, if we hadn't done that genetic testing, we would not know that Lorelei has SRD. And now that we know we're a part of an amazing community and looking at a clinical trial. So I think it's really important for families to push for that for any kind of rare disease because you just never know.

SPEAKER_03 9:54

So, as I mentioned, the Connecticut Mirror piece was just an amazing uh piece to read. Um and and I'm a little bit on the other end of things where my son with autism is is older. So a lot of the previous podcasts that we've had have kind of been reflecting that in terms of the process that we went through, the battles we had to face. Um and the thing that I find remarkable in your situation is that your daughter is young, and you've taken a step that, frankly, I've thought about taking, but haven't taken in terms of becoming more of an advocate, um, and almost uh I don't know if it's appropriate to say, but a political animal as well, having to navigate um, you know, dealing with state representatives um and the the lobbying process. Um what prompted you to write that piece? And is is are is there more to come or am I gonna see you in the New York Times soon?

Becoming an Advocate

SPEAKER_01 10:57

Uh maybe. Amy, right? Well, you're right. Lorelei is five, and in fact, we've only known about her syngap1 related disorder diagnosis for um a little, almost two years now. So we have plenty of battles ahead of us. You've lived through, we've overcome many battles that are, you know, we know we'll probably have, and we're not there yet. But I think what made me write the piece for the Connecticut Mirror was that it came from a law, a place of love, a place of extreme frustration and fear about the future. I think I was finding myself in a place um very consumed with the worry of what will the future be like for my daughter.

Turning Fear Into Action

SPEAKER_01 11:46

And I was just listening to other people's stories, even on social media, just families saying this has happened to us, and we're going through this and we're doing this. And I just thought that's going to probably be us in 10 years or 15 years. So I felt that I needed to take all that anxiety, all that worry, and put it into something that felt productive for me. And yes, I'm a professor of English, um, writing is what I do, and I teach my students every day that your literacy is your superpower, you've got to use it uh to help others. And so I felt I could help my own daughter, I could help others, though, make Connecticut the home that they really deserve to have. So I wanted to highlight the issues we're all aware of, they kind of bring it together and call on the state to help us because we we're all humans, and I I believe in the good of people, I believe that we want to help others, and so when we have the capacity to do that, we have to to do that.

SPEAKER_03 12:51

How has uh advocacy changed you personally? Um, your inner confidence, your voice, uh, your sense of purpose.

SPEAKER_01 13:01

Yeah.

How Advocacy Changes Parents

SPEAKER_01 13:02

It has changed me in a way that I think when you are a parent of a child with special needs or who's medically complex, like you don't necessarily have a choice. Your identity changes. And maybe you want it to change, or maybe you're resistant to change. But me personally, uh not by nature a person who wants to um be adversarial or confront conflict. I like to help, you know, make people happy, right? But I have definitely learned that I can't worry about that. They're my daughter's needs are a top priority, and I can advocate for her needs and still be respectful, but that I have to do it. I have to do it myself. Not doing it feels uh like a form of complicity for me. Like I just have to. So it's it's changed me into someone who will say, I'm showing up, I don't know anything, but I need to be involved. So show me, tell me how I can be involved, what can I do? So I look for those opportunities now, which I probably would not have done

System Challenges & Costs

SPEAKER_01 14:13

before.

SPEAKER_03 14:15

I often think of um I put on my inner economist hat. And if if you think of the prevalency of um dementia diagnosis, and uh you think of the prevalency increasing, of course, with autism diagnosis, um, and those population sets are creating demands on society from an economic standpoint. Um I think of uh Alzheimer's and the the ever-increasing prevalency of Alzheimer's as well, as well as other types of dementia. Um and if you map those two out in terms of the baby boomers that potentially are gonna have a an issue with Alzheimer's or dementia, and then you map out the explosion of the population of individuals with autism, and you do the math of the cost to society down the road, it's frightening. Um, and it's also frightening from uh a standpoint now where as a parent of a special needs child, I think of well, they should make an investment in special needs kids while they're younger, so hopefully they have less uh they'll put less of a demand on systems later in society. But a lot of times they're just focused on the day and today and what the budget constraints are now. Um and can you tell me a little bit of how that has come into uh or those realities of the economics have come into conversations as you've lobbied with different groups and had these kind of discussions?

Gaps in Support Systems

SPEAKER_01 16:03

Right. And as I I stated, my journey with advocacy is still pretty young, but you're absolutely right that there are so many systems nationally, but if we're talking about Connecticut, there are a lot of systems that are working in silos at this point. There are a lot of programs with very strict eligibility requirements. Um in systems that are programs that are more short short-term than long term. So you're right that investing now is just logical. I'm a word person, I'm not a numbers person, but you don't have to be a numbers person to understand that addressing issues now

Why Early Intervention Matters

SPEAKER_01 16:45

saves money later, right? So in my work, I guess, with Syngap or Cure Syngap One, as a grant writer, we're asking people to invest in our kids, people who don't know our kids, for science, right? Science will lead us to more discoveries and we'll be able to help other people too. So investing in something like Syngap One right now, um, a neurodevelopmental order with epilepsy, well, there are a lot of people affected by epilepsy. So a discovery now will ultimately lead to more effective, cost-effective treatments later as well. Um, as far as politics goes or legislation, I think one step to helping people understand is sharing your stories, letting them know your kids and know the joys of your children as well as the struggles and how so much is placed on the family to figure out. But I think it also makes sense that if you can support our families now versus later, you help parents also be more productive members of society. We're professors, we're doctors, we're sanitation workers, we can do more for our communities too when you invest in programs for our children now. And I think also looking at things like this is something I'm interested in in learning more. I met with um the executive director of the Connecticut Council for Developmental Disabilities just the other day. He actually reached out to me also after the Connecticut Mirror piece, and I said, I just want to learn what you do. And he he enlightened me about how prison systems can even be overburdened later in a person's life when services are not provided at a younger age, too. There might be people who have found themselves in trouble and therefore landed themselves in prison because of possibly an intellectual disability or something else, right? So all of these systems are affected by what is happening today and the services that we can provide for our children today. Not to imply that everyone with a developmental disability will end up in prison, right? But we know that there could be supports that could help um prevent people from ending up in worse situations in life.

SPEAKER_03 19:17

Well, I think of

What No One Tells You as a Parent

SPEAKER_03 19:19

uh my own educational development, and I was hyperactive. I was on Ritalin in the 70s, and I remember watching the evening news one night with my wife, and uh I must have been like 30 at the time, and there was a study about uh individuals with the ADD, and um you know, just the way the news report sounded, uh I was surprised after listening to it that I wasn't in prison because it you know it implied that the the the uh the problems were such that it led to that outcome quite a bit. Um when you think of uh your journey, what has surprised you um on a I guess uh a local level, on a state level, on a federal level, of how um individuals like your daughter are being treated and their outcomes?

What Works vs What Doesn’t

SPEAKER_01 20:17

I want to say I'm surprised, but not surprised, that the people who interact with Lorelei on a daily basis are they're wonderful people and they really care about my daughter, her teachers, her therapists, the specialists we see, but so much is out of their control. I'm thinking about school because for the most part, we've had a lot of, you know, we're we're in kindergarten now, or I'm spending hours in PPT meetings with her team, and um I can I know there are a lot of decisions being made that are not at the local level of our district, but I'm seeing the effects of things that my daughter needs, but maybe can't get yet, and that has to do with money, politics locally and nationally. Um, so right now, you know, that's I feel like that's where I'm seeing the biggest impact for my daughter and just her age group and hearing stories of other families. But um, in the SIMGAP community, you know, parents talk about changes to Medicaid and how that's affecting their ability to get care for their adult children in their homes versus an institution which no one wants to have to send their, you know, child there, or how they care long term, provide plan for long term care for their adult children as well. So I'm learning more about that, absolutely, but the on a day to day, people care about your your kids, uh, but a lot is out of their control as well.

Education System Challenges

SPEAKER_03 21:58

And I guess that kind of touches on the Personalization that do you in talking or in the lobbying efforts that you've been involved with in the conversations that you have? One of the things that I've found in those conversations in the past is people generalize. And you know, and there recently there was a um, and I try not to be political, but there was a national political figure that said uh kids with autism can't play baseball. And that broke my heart because my son loves baseball. And he plays buddy baseball, and um it just was again a generalization. And it and it sounds like syngap is a spectrum as well. It's not simply, you know, you meet one kid with syngap and you've met them all. It's um yeah, it's a spectrum.

Every Child is Different

SPEAKER_01 22:56

It is a spectrum, and I have to say Lorelai loves gymnastics. We go to gymnastics every Sunday, you know, so she can do gymnastics, she can play baseball, she can do what any other kid wants to do. It might just look a little bit differently, right? Um, so it's unfortunate that people make comments that they can't do or that they have some kind of limitation because of you know their disability. But sin gap uh is a spectrum. Our daughter Lorelei is more mildly affected than some of the other families with kids that we know. Some children with sin gap have feeding tubes. They have constant epileptic activity, even even eating triggers, seizures. Um have mobility issues. Lorelei is a very active child. She is low verbal, but more verbal than many of the other patients that we've met. Um, she has hypotonia, some low muscle tone, she has dyspraxia, coordination issues. But what I would say is that while

Levels of Need Explained

SPEAKER_01 24:06

as parents, my husband Mikey and I, um I think we've accepted we'll never have another good night of sleep, right? We'll never fully feel rested. But at the same time, we have more capacity to advocate and to push for change than some other families do. And so in this moment, we have the ability, and so we do that, even though our child might not be as affected. Um, but we want to help the larger community, and that's really important.

SPEAKER_03 24:38

That's terrific. We're just gonna take a quick break and we'll be back.

SPEAKER_00 24:43

Support for remarkable futures

Strengths vs Struggles

SPEAKER_00 24:45

comes from Able Planning, helping families navigate the financial future of loved ones with special needs through personalized planning, guidance, and long-term strategies. Learn more at AblePlanning.com.

SPEAKER_03 24:59

Welcome back. Uh again, I'm excited to have uh Rachel Yashek with me. Um and I am I doing okay with that pronunciation?

SPEAKER_02 25:09

Gishichek.

unknown 25:11

Okay.

SPEAKER_03 25:12

Um again, thank you for being here. Uh can you talk a little bit about how um perhaps your daughter is helpful in advocacy, in that when someone meets her, I would imagine that makes it real for them.

SPEAKER_01 25:34

Lorelei has a way of just drawing people into her circle. She is a super sweet child. Uh, for the most part, she's always smiling. And um, so when people meet her, I do think they gravitate towards her because she's excited to meet them. I think when thinking about advocacy and getting people who have no knowledge of rare disease or autism, genetic conditions, um, it's really important to be very specific about your child's story or your family's story. You know, uh share with them how many hours a week are you spending in the car taking your kid to get services or therapies that they need because it's not available locally. I think sharing the wonderful things about your children is really important because you want people to see them as humans, as part of our community, and that they bring value to our community. But you also want to share the struggles too. It takes time to be comfortable sharing those struggles. After Lorelei's diagnosis, my husband and I, I mean, we didn't really say much to anybody. It even took us a while to tell our families. We weren't sure we wanted to go

Daily Life Reality

SPEAKER_01 26:56

public. We wanted to protect Lorelei's privacy, but at the same time, we finally realized: well, we have to be part of the NAR narrative, we have to help share that with others, and so um highlighting all the wonderful things we get to do, but also the daily struggles is very important, I think.

Sharing Your Story

SPEAKER_03 27:18

So, who should parents try to connect with if they want to be advocates? Are are they advocating to state legislators? Are they advocating to the the local mayor? Are they loc are they advocating to politicians in Washington? How do you even start and who do you start talking to?

How to Start Advocating

SPEAKER_01 27:40

If this was a multiple choice test, I'd say all of the above. Think about what your child and your family needs. What are what need is not being met, and then go from there. With Lorelei, you know, we're we're kind of part of multiple communities. We're part of the autism community, but we're also part of the rare disease community, and then more specifically, we're part of the Cure Sun Gap One community. So figure out where that community is, or if that community doesn't exist, you might have to start it yourself, but you could reach out to other communities that had to start somewhere. Um, thinking about rare disease in particular, I said, okay, what national organizations exist? I just went to Google and I said rare disease Connecticut, Rare Disease New England, Rare Disease Nationally,

First Steps for Families

SPEAKER_01 28:30

and organizations came up: Every Life, uh, Rare New England, Nord. You go to those websites and you'll find links that say, want to get involved or want to join a webinar, do that. Even if you don't have the time right now, get the emails, get on the listers, right? More locally, reach out to your local representative. It could be your mayor, uh, it could be your district representative, your state legislator. And if you contact them and they say, Well, this is not my area, they'll get you in touch with who you can talk to or who might be able to help. So I think you have to push yourself, or at least I had to push myself to say, I have to do this. I don't have answers, but I want to talk to somebody. Uh, I think you feel maybe when you start advocacy that you're not an expert enough, but you have lived experience, even if your diagnosis is very new, you have lived experience that is incredibly valuable. Um, so use that and say, this is happening, this is what we see. Who could help me with this? I think people want to help, they just don't know that you need help until you reach out. So, really, anyone and everyone, but starting with um local listservs and seeing if there's a a nonprofit that exists or a representative, you know, elected representative is a great place to start.

Knowing Your Rights

SPEAKER_03 29:59

And what rights or expectations should families have um as citizens that in terms of when seeking support?

SPEAKER_01 30:09

Yeah. Well, as parents, we know that our children have every right as any other human being to access basic services, to access an education. Although I think that's true, systemic injustices exist, and a lot of times it comes down to a number on a budget. So just know your child is entitled to the same thing any other person is entitled to. But of course, if you want to look into it more, there's the um uh IDEA, I D E A. That'll educate you on what your rights are in education. There's the American with Disabilities Act. Um, I definitely am not an expert in in all of that yet, although I'm currently enrolled in my Masters of Science and Special Education program as a way to support Lorela, and I'm very much looking forward to uh education law course that's coming up soon. But there's a lot of free resources online

Final Thoughts – Moving Forward

SPEAKER_01 31:18

as well.

SPEAKER_03 31:19

So, what approaches have you found most effective and encouraging uh progress or change when you're talking with people? Does it you try to come at it at a optimistically, or do you give them sometimes a glimpse of the stark realities or is it a combination? A combination.

SPEAKER_01 31:38

But really through sharing your story, being willing, getting to connect with others is so important. I think again, we have limited experience. As we said before, your family has faced many more hurdles than you know my husband and I and Laura, I have. Um, but always being respectful, and

Hope, Purpose & Advocacy

SPEAKER_01 32:00

I think assuming that people do want to do good is important. You just might have to show them how to do good, have to direct them quite a bit at times. So I think sharing your story is is incredibly important, remaining respectful, trying to see it from the other side's perspective, even if they're not trying to see your perspective, and finding common ground and everything that we do is incredibly helpful. Incredibly helpful.

SPEAKER_03 32:34

And do you have uh it sounds like you're optimistic about the clinical trial?

SPEAKER_02 32:38

Yes.

SPEAKER_03 32:39

Um, are there other things that you're optimistic about? Um I'm sure you have optimism for your daughter, but um tell me about what you're feeling good about for the future.

SPEAKER_01 32:50

Right, absolutely the clinical trial. Um, just the fact that scientists are are interested and and want to um

Closing Message

SPEAKER_01 33:00

explore this uh completely random mutation that happens. It's not inherited, it's completely random. Um, but it could happen to any child. I'm very optimistic though when I see other children play with my daughter, that we are raising a generation of people who are more inclusive. Um she is in her self-contained classroom part of the day, and she's in the Gen Ed classroom part of the day too. And hearing how other children help her and and include her and want to play with her um gives me a lot of optimism. But then I also uh in Connecticut think we are seeing change happen. People are pushing for that. Just the other day, uh, I submitted testimony, written testimony about a house bill on changing the eligibility requirements for the um DDS, Department of Developmental Services, and that the IQ requirement is too strict, too restrictive. And it does exclude people, and a lot of our different waiver programs exclude people, um, and then they're left with nothing because they don't fit perfectly into any particular category. And people realize that, and I see people who aren't necessarily affected by intellectual disability or autism also caring about that too. They're getting to know our families, and so they say, Oh, well, you know, my I have a friend down the street or in my neighborhood whose daughter has these challenges, and so they're they're caring too. So I do see, although change is very slow, I see it happening, and I see the power in people coming together to push for that change.

SPEAKER_03 34:47

And it seems like that you you look at uh when a child was evaluated, um, whether it be for different support levels or uh even in the development of their um IEPs, there's there's this tendency to try to um lead it to a number, a score, a land score, etc. Um and that score just doesn't tell the story. No, that it maybe reflects some level of abilities, but it doesn't tell the story.

SPEAKER_01 35:21

I would say as an educator, I have known that my entire career. I mean, a test score means honestly not that much because there's so many factors that go into that day and that evaluation. And yeah, IQ is is a number. My daughter excels in certain things that um other kids don't excel in, but she also has I hate to say deficits, right? But that's sort of how it's discussed, um, deficits, but even someone with a number higher than the IQ cutoff um might really struggle with daily functioning, might really struggle with social issues or behavioral issues or or some other issue. So the score just does not reflect the life that's being lived and and how someone can be uh in the community. So I think it's really important that we really look at what other states are doing too. I mean, Connecticut is a leader in many ways, but we are one of the states that has the strict IQ requirement where other other states have sort of made that more inclusive, that eligibility requirement more inclusive.

SPEAKER_03 36:36

So if I'm where you were um and your daughter's five now.

SPEAKER_01 36:44

Yeah.

SPEAKER_03 36:44

So in how old were was she when you got the diagnosis?

SPEAKER_01 36:48

She's uh almost three and a half when we received the autism diagnosis, and then moving into four years old when we received the Syngap 1 diagnosis.

SPEAKER_03 36:58

So if you could go back in time, and I asked this in different ways in various different podcasts, and it it I I tend to laugh a little bit about it internally because my son always loves to romanticize what he just left, and has frequently said that he wants to build the time machine. But if you had a time machine and you could go back and um talk to yourself at that point where you're learning the full um diagnosis, if you if you will, and maybe not so much of um advice on you know your general family life, but what would you say to your younger self? Um, and it wasn't that long ago, so but what would you say to yourself at that point in terms of advocacy? What would you have like three things that you might say, hey, you should do this, this, and this?

SPEAKER_01 37:54

Mm-hmm. Actually, I want to talk a little bit about Loreley's diagnosis story, then if that's okay. Absolutely. You know, we didn't really notice um anything that concerned us until around two years old or so. I mean, she for the most part was meeting milestones, maybe on the slightly later end. So walking was maybe more around 14 months or so versus 12 months, and um her language was on the lower end when she was around 18 months. Um, but she'd had chronic ear infections, and that was a struggle. And so we kept going to our doctor and saying, Well, her language is delayed, and you know, the doctor would say, Well, it's it's the ear infections, get ear tubes. Okay, well, we got ear tubes and cleared up the ear infections, but the language was still delayed, and then and at the same time there was some head hitting that that Lorelei was going through, and the doctor said, Oh, it's again, it's just the constant infections. And we just said, Well, something else seems not right. You know, now there's some repetitive behaviors, and the doctor kind of said, No, you know, it's she'll grow out of it, just give it time. And so we didn't push for any kind of evaluation. We finally got referred to speech therapy, and the speech therapist said, You know, I don't think I can make any progress with her until she receives ABA therapy. And I said, Okay, sure, okay. I didn't know what ABA therapy was, and then I went and looked into it and I said, Oh, well, that's that's just something for kids with autism. What? So then I went back to our doctor and said, our speech therapist says she can't really make progress with her until we get this other therapy. And so the doctor said, Oh, okay, well, let me refer you to this neurodevelopmental doctor, and that's where we went. So I think even though Lorelei was our first child and we had no child to compare her to, and you obviously hear, don't compare your child to other children. I think we should have trusted her, we could have trusted our gut a little bit more and pushed for what we've felt like we needed answers sooner, that it couldn't all just be as a result of these ear infections. So I would tell parents, you know, trust your gut. You have to advocate, even with your doctors, even when you think they know more than you, they they don't always, right? Um, another thing I would say to to myself is take a breath. I like to know everything about everything before I take any action, and that's sort of the teacher in me, sort of the researcher in me. I had to build my confidence a bit and say you don't have to know actually anything to start helping, to start joining a cause or whatnot. Just go and show up, and that's great. And someone will guide you, you know, you'll figure it out as you go. And I think another piece of advice I would give myself is just enjoy every good moment. It's impossible not to worry about your child's future, but you don't want to be worrying so much that you can't enjoy getting on the floor in the afternoon after school and playing with school buses and with your child, you know, or or magnetiles or whatever it is. So those um moments are really important to soak in. Lorelai is obsessed with the moon right now, loves the moon. So even in the middle of winter, after dinner, we are putting on our clothes. We're going out on our little moon walks and searching for the moon. Um, and that's a chance, just take those opportunities because that's the chance to just enjoy the moment with your child and kind of let the worry melt away temporarily because it'll always be there. But take those those moments and just enjoy them as much as you can. I think a couple of um additional things I would share is that we talk about family becoming advocates, but you don't have to personally be affected by any type of disability to be an advocate. In fact, at Curie Syngak One, we have grandparents involved, we have aunts and uncles involved, we have neighbors involved who are able to kind of bring the energy to our group along with the parents that really pushes for change. And so, you know, whether you're you can be an ally or an advocate, finding ways to share our stories, finding ways to donate if you can donate is um obviously incredibly important. Um, so I would, you know, say anybody can be an advocate, it doesn't have to be placed all on the families because we are juggling a lot all the time. The PPT meetings, the therapies, the hectic schedules, you know. I remember getting up at, well, I get up at 4 30 every day, my husband does as well, so that we can get ourselves ready, so that we can then get our daughter ready because rushing her is you know, never results.

SPEAKER_03 43:06

There's some friction there.

SPEAKER_01 43:09

Um, but you can help be an advocate as well because ultimately caring for helping to push for care for our families helps helps the larger community. Um, another thing I want to mention to families who's kind of looking for a place to start. I I recently learned this, that you can go to our General Assembly website and you can sign up to get notifications about different bills that are coming through. You can kind of tag it with whatever if you want to know about Medicaid, if you want to know about education bills, if you want to know about changes happening with um DDS, you can get those notifications right to your email inbox. You don't have to go searching the website all the time. And so that's a really easy way to just get notified and help become informed, and then I'm in. I wrote testimony the other night and submitted online. It took me 15 minutes. Yes, Laura. I got put to bed. We cleaned up from dinner, and I took 15 minutes to share how this would affect our family. So that's a really simple thing that people can do as well that can feel very empowering, also.

SPEAKER_03 44:19

Well, thank you so much for sharing that. Um you actually make me think of something related to my uh my wife's personal experience when she was a kindergarten teacher. And sending your kid off the kindergarten is a big moment for parents. And she used to have to shoo parents away from the windows of the classroom because she was on the first floor and the parents would be staring, staring in through the windows, watching their their little ones. Um, can you tell me about your daughter's first day of kindergarten and how that was for you?

SPEAKER_01 44:58

Yes, it's funny you ask. Um kindergarten did not start the way we thought it was gonna start that morning in particular. As I mentioned, Lorelei loves buses, or I think I mentioned that. And ever since she was four, every bus she's ever seen, she was like, When I'm five, I ride the bus. It's like, yes, when you're five, you'll get to ride the bus. So five came around and kindergarten started. And at first, the bus um was not going to come into our neighborhood. We live our neighborhoods off a busy street. I think that's one one place my advocacy also started was that getting the bus to come to our door for my daughter's safety was a bit of a battle, but we got it worked out.

SPEAKER_02 45:35

Good.

SPEAKER_01 45:36

And we talked about the bus, and she was so excited. And then on the very first day, the bus did not come. The bus driver apparently did not get the message that she could come into the neighborhood. And so Lorelai was a little bummed that she can get to ride the bus. But then I actually got to take her to school that day and see her walk through the door, and she turned around and smiled at me, and I knew she was gonna be fine. She was so excited. Um, and then I was so excited to see her come home that day and and hear a little bit about her day. She's not able to tell us a ton. But when you see your kid get off the bus and you say, How is school? and she's just beaming, you know, a lot of anxiety left my body at that moment because I knew she was gonna love it, and I went I want to make sure she keeps loving it, which is you know, advocating in that way is so important as well. But um it's been wonderful seeing her blossom, especially socially, with her peers by starting kindergarten.

SPEAKER_03 46:37

That's awesome.

unknown 46:38

Yeah.

SPEAKER_03 46:38

Well, uh, again, I can't thank you enough. Um, I could probably talk to you for another hour without a problem. Um, I'm hopeful that you won't mind if we check in with you in the future. I hope this podcast uh keeps going for quite some time. Uh, and it would be very interesting to catch up with you in the future to see how things are are progressing, both uh for your daughter and for your advocacy.

SPEAKER_01 47:03

Absolutely. I would love to stay in touch. And if I do publish more, and yes, I think I didn't finish answering your question earlier. There are more ideas that I have that I'll be researching and writing about as well. So I'm so glad that that one publication led me to your, you know, studio here and and getting to learn and um listen to all your podcast episodes as well that have just really touched my heart, as I told you earlier today. So thank you for inviting me. Thank you for letting me share Lorelei's story to raise awareness for Kirsten Gap One and to help us just build a better community for our loved ones.

SPEAKER_03 47:41

Well, again, thank you. And until next time, thank you for uh joining us for the Remarkable Futures podcast.

SPEAKER_00 47:52

If today's conversation helped you, please like this video so more families can find it. Subscribe so you don't miss the next episode of Remarkable Futures. And if this topic connects with your story, share your thoughts in the comments. We'd love to hear from you. Because here, your story matters. We'll see you next time.