Navigating The Unknown With Extraordinary Love: Two Mothers' Journeys with KAT6

This was a conversation with two inspiring mothers whose lives have been profoundly impacted by the rare genetic condition, KAT6. Through their stories, we explore the challenges and triumphs of raising children with this neurodevelopmental disorder, highlighting the power of community, advocacy, and unwavering love. Join us as we delve into their journeys of resilience, hope, and the relentless pursuit of a brighter future for their children.

Transcript

SPEAKER_02 0:02

Hello, and welcome to Fire in Her Eyes. This is a podcast about women who persevered through pain to find peace and purpose. So if you're looking for a little inspiration and motivation to sustain you through difficult times, join us as we share stories of women who were empowered through pain and transformed struggles into sweet success. I'm your host, Tanya Skaronsky. Every mother dreams of seeing her child grow strong and thrive. But for some, that journey looks very different. Today I'm sitting down with two incredible women whose lives were forever changed by a rare genetic condition known as Cat 6. Cat 6 is a rare neurodevelopmental disorder that affects only a small number of children worldwide. But behind those few cases are families navigating the unknown with extraordinary love, determination, and courage. One of my guests today is a devoted mother who works directly with the Cat Six Foundation, helping connect families, fund research, and raise awareness. The other is also a mom and co-chair of the Cat Six Walk, walking this path day by day, finding strength and community and hope in every milestone. Today, we'll talk about what it means to be a rare disease parent, the fear, the faith, the advocacy, and the fire that keeps them going. Amy and Katie, thank you for joining me.

SPEAKER_03 1:41

Thank you for having us. Thank you.

SPEAKER_02 1:44

Can you share, each one of you, a little bit about your child, their personality, the moment you realized something was different, and how you came to the Cat 6 diagnosis? Amy, you want to start or you want me to start?

SPEAKER_03 2:00

Yeah, I can start. Um I'm the mother to Will. He's 10 years old, and he is diagnosed with Cat 6A syndrome. It's spelled K-A-T-6A. He was born in 2015, and uh right away I could tell as his mother that he wasn't developing typically. He was my second child. Uh he wasn't uh gaining weight and head circumference like my oldest did early on. He retained a lot of newborn um reflexes, so his hands were tightly fisted, his muscle tone was very abnormal. He wasn't making the eye contact that you would expect. He was having difficulty tracking objects. So pretty early on, I had concerns about his development and just his growth. I'm lucky that in my family I have two medical doctors, and they brought it up to me in about three months that you really need to talk to a pediatrician. You know, he's still very tightly fisted, things like that. Um, and then I brought it up to the pediatrician and she hadn't observed it as well at that appointment. And then, you know, we started down a road of seeing neurology, ruling things out. Um when he had a normal brain MRI, then we started to look for answers uh from a geneticist. And that was really tough because it had never occurred to me that he had a syndrome or something in his DNA. I thought, oh, maybe he'll go to early intervention and have some PT and some services and he'll outgrow some of these delays. Um, but you know, as time went on and the gap started to widen between him and other infants, it became pretty clear that we had to dig deeper. He had a lot of genetic testing done and all of the typical tests they do. I don't want to, I don't know how much detail I should get into, but there's like a microarray that geneticists typically do first. Um, that came back normal. And they started testing for some other syndromes that he had some traits of, but nothing really. So eventually they did something called whole exome sequencing, where they mapped his entire DNA and also myself and my husband. And what they were able to do was compare our DNA to Will's, and every person in the world has a cat 6A gene, but ours is functioning properly. Um, Will's gene and also Benjamin's, they have a mutation somewhere along in their genetic code. And when there's just one simple genetic error, it can disrupt how that protein is read and it causes an array of issues. So we had that testing done, and it took many months to get the results back. I I think it was like four or five months until we finally found out. And at that, and when I found out Will was 14 months old. So he was just over one. He was beginning to crawl, so he was showing some progress in his development. So it really was a complete shock to us when they found that it was it was something genetic. I think that's kind of the in the nutshell of his early development.

unknown 5:28

Okay.

SPEAKER_01 5:29

How about our story is all is so parallel. Benjamin is 10, he was born in 2015. He was in the hospital the first 10 days of his life because he he had to be on oxygen for a little bit, one of his lungs was collapsed, and then he couldn't um latch or suck. Um, so he was on a feeding tube for a little while. When we got home, he was really tiny and um kind of had this sucking, latching issue. But when we got home, he started crying and he did not stop crying for months and months and months. So he was awake like 20 to 21 hours a day. He just couldn't get comfortable. It was it was really rough. And it was about at the three-month mark with our pediatrician, where he started similar testing to what um Will had. And everything was coming back negative, coming back negative. We met with a geneticist, maybe when Benjamin was about six or eight months old, and he said, you know what, at this point, you've kind of ruled out all of these major syndromes. I don't notice this, this, or this. So I think we just need to wait and let him grow and see what happens. He said, something could come back. He could come back with a rare genetic disorder that maybe your insurance company doesn't want to carry you. He could have some rare gene for cancer, and you never get cancer, and you worry that he's gonna have cancer his whole life. Like there's just so many what-ifs right now. So let's let him grow and see what happens. And we were pretty comfortable with that. He was not crawling, he was not rolling, he was not making eye contact. All those milestones we started with early intervention at six months old. He had an MRI around six months and things looked good. And then about a year later, 18 months later, he had another MRI because he was starting to have swallow issues. And um, we met with a our neurosurgeon, a neurologist who referred us to a neurosurgeon, and um he had a second a CT scan and um an x-ray on his head. Um, and I'll never forget it was like Christmas time, and the doctor called me on my cell phone and said, I need you to get Benjamin here tonight. I'm gonna wait for you. Um, but I'm seeing some signs of things that are really concerning. So we brought him in. It was really snowy in West Michigan. I was pretty scared, and within 18 months, all of his skull plates had fused together. So his brain didn't have any room to grow. So he ended up having, or they said his x-ray looked like hammered copper. Like his head was brain was trying to grow, but there was just no room. So he ended up having a procedure called a craniostenosis where they like take bones out of his skull and it allows the brain to grow. Um, it was the scariest moment of our life. I thought we would be in the hospital for weeks and we were home within four days with a happy kid who was smiling, who was drinking and eating better again. But at that point, that's when our um neurosurgeon said, you know what, I've never seen this before. I think it's time that we dig deep into the same type of testing, that whole exome sequencing. So we did that. I was tested, Ben was tested, my husband's name is Ben. Ben and I are both not carriers of like the mutation. What am I trying to say, Amy? What's that called?

SPEAKER_03 9:02

Yeah, it's called the G novo mutation. So it's not inherited. Oh, yeah.

SPEAKER_01 9:07

Yeah, so not inherited from either of us found out he had cat 6A. And kind of the rest of the story begins after that. That was, I'm sorry, that was right before he turned three, is when we got that information.

SPEAKER_03 9:24

Yeah, so Katie has like a little bit of a different experience than me when she got the diagnosis. Um Katie, correct me if I'm wrong about this, but when you received Benjamin's diagnosis, I believe we already had a website set up and we were in the early page.

SPEAKER_01 9:47

What I went to immediately. Um, I wasn't even on Facebook. One of my girlfriends set up my best girlfriend from growing up, set up an account for me, and I joined the Castic support group, and I'm not getting my life changed when I joined that group.

SPEAKER_02 10:05

There's something so powerful about the sense of community, isn't it? Oh, yeah.

SPEAKER_03 10:10

Yeah. So I I was like different because when Will was diagnosed, um our geneticist basically handed us two medical studies. In total, they were on 10 kids. So he said there's only 10 cases of this mutation documented in the world. And he said, learn sign language because your child is never going to talk. And we kind of just left the appointment like in complete shock. You know, we broke down. Um I wasn't on Facebook either at the time, but there was a uh one website called Chloecat6A.org. And it was a father named Jordan, and he had just set up a website and said, My daughter has this. If you get diagnosed, please reach out to me. It was basically just one page. Just he just put it out there to the world. And so I I got the courage maybe a month or two later after the diagnosis, and I emailed him. And then he said, Oh, I'm so glad you found us. We have a Facebook support group and there's about 20 or 30 individuals in it. And I was like, Okay, there are more than 10 better. And so I joined the support group. And at the time, you know, yeah, he was right, but there was about 30 other parents in the group. And I was quiet in there at first and just kind of read all the posts and looked at photos before I introduced myself. And then eventually I introduced myself and it was the best thing I ever did because then I had immediately people DMing me. I was on the phone with a woman in Australia and we bonded right away. Like it it just helped so much to hear of people that had children that had a similar story and symptoms, and then also like looked so much like my son. It was it was incredible. You know, like he doesn't look that much like his brothers, but he looked so similar to Cat 6 kids. So seeing that resemblance was huge. Um but then Will was actually the youngest child in the group at that time, and all of them were amazed that this one-year-old was diagnosed because a lot of them had kids that were older and they had just been diagnosed at eight years old, ten years old, fifteen years old. So we felt lucky that we had an early diagnosis, but you know, also we didn't have much information and it was still very unknown.

SPEAKER_02 12:46

Um as a mother, I I can't even imagine how you begin to try to make sense of something that's so rare. How did diagnosis change the way you see motherhood or you saw yourself?

SPEAKER_01 13:05

It definitely didn't change anything that I was doing with Benjamin, but it made me feel, I think, more empowered because I had resources and people to lean on. So I wasn't alone anymore. You know, I can just remember feeling so alone and isolated at first. I was still gonna do everything the same, but you just felt like, gosh, nobody really understands what I'm going through. So my husband, my mom and dad, we're so close with them. They live next door to us, but nobody really gets it. And then when I started talking with other parents in the support group and texting people here and there, I just felt like wow, I am not by myself in this anymore. So that was really empowering. And it was almost like, all right, it's go time. Like we know what this is. Um there are ways that we can help. So now, you know, as far as like reaching out to certain specialists or things that we should look for or certain supplements that Benjamin should be taking. Um I just really felt like empowered by it all, I guess. I mean, don't get me wrong, like I went through some serious postpartum depression and have nights where, you know, it still sucks, and you grieve the loss of having a typical child, and Benjamin's our only child. So I don't have anything to compare to except for, you know, I'm a teacher, my nieces and nephews, friends, kids, but um, you know, there's a lot of grief that comes with it too. But that's way less than me just feeling like, what can I do to help him thrive? I don't even know if I answered your question, but you did you did so beautifully.

SPEAKER_02 14:55

I love the way you found this way to transform your grief into empowerment that you're so honest with your emotions that you grieved what could have been, what might have been, what you hoped it would be. You allowed yourself to feel all those emotions, but then you picked yourself up and you found a way to feel empowered.

SPEAKER_01 15:17

It's you answered it so beautiful. Thank you. You know what? I was thinking about something when Amy was talking, and you said that one of the doctors said, Learn sign language, Will's never gonna talk or whatever. Was it the geneticist?

SPEAKER_03 15:30

Yeah.

SPEAKER_01 15:31

So the first neurologist that we saw, way long before we knew Benjamin had cat six, um, said, you know, I don't know what's going on. You know, we'll we'll figure it out. You know, I don't see him playing soccer with all the other kids in the field. And I just literally in that room, I was with my mom and Benjamin, I doubled over the counter and I started sobbing. And I am not like, I don't let things go like that. Normally I could like take something like that. And I just started sobbing. And I said, Don't you ever tell me that my son won't play soccer with the other kids. Don't you don't know? And I go, You're not God. I remember I was so furious. He was a younger um neurologist, and he like took 10 steps backwards and was apologizing. But I thought, I am gonna claw your eyes out right now. Don't tell me my kid's not gonna do something. And you know what? It I just remembered that because that was a really like one of those moments I'll never forget. And last week we had an a special, we have a special Olympics program at our school, and we had an inclusive soccer game at our new uh field house in Spring Lake for athletics. It's like this multi-million dollar facility. And Benjamin was the goalie for the game with another little boy from my classroom, and they kicked butt and they won the game. And I just feel like I just want to send that video to that doctor and be like, guess why he is playing soccer with the other kids. It might look a little bit different, but don't ever tell a mother that their child's not gonna do something.

SPEAKER_03 17:05

I think originally you asked Katie like how your perspective changed or what changed about you. I came from like a very highly educated family. I have four siblings. We all have a master's degree or higher, like we were all athletes. So the things that I think we grew up valuing so much and kind of just like expecting for our own children, I had to learn and realize that isn't what defines you as a person and what makes you a good person and makes your makes your life valuable. Like realistically, like I, you know, I don't want to put limits on my child, but you know, he's not gonna go to college. He's he's he's not gonna play on a competitive uh team at any point. But he's still so special and he lights up every room and he gives everybody such joy and such comfort and affection. And he's he's I I can't explain it. Everybody who meets him is always says he just has this great energy and these good vibes. And if you're having a bad day and you see Will, he lights you up. And I think that that has so much value. And I think just as a society, we put too much emphasis on the accolades instead of what really matters is just spending time with family and being good to each other. I think my whole perspective has changed. I used to, I mean, when Will was first diagnosed, we went through it, like grief hit us hard. I also grieved for my oldest child a lot. I felt like he's not gonna have that sibling bond that I have. And I was so wrong about that. They are so bonded, they have bunk beds. They're not having the same type of conversations that I'm able to have with my sister, but they play and they laugh and they tussle and wrestle around, they absolutely love each other. You know, Andrew has Will's back and my youngest who, you know, doesn't even see his disability. It's amazing because he's never known any different. But I think early on though, when I would see little brothers just anywhere at a park in a restaurant, I would like tear up and I would get in my car and cry like as I would leave, or you know, it's something that you really have to accept and it it's a long process to get there.

SPEAKER_01 19:36

And it doesn't go away. I mean, it comes in waves. I feel like my husband, Ben, and I will go, you know, we had the same everybody has dreams for their child, and when you're pregnant, you think this is what it's gonna be. And, you know, my husband's really into hunting and he's an outdoorsman, and it's like he would give anything to take Benjamin with him up north for the weekend in the woods and you know, to learn how to. Shoot a bow or shoot a gun or you know, drive his own four-wheeler. And there are moments that he gets teary and I get teary, and it's just like, this sucks. This is really frustrating. And then we try our absolute best to find ways to make that better. Like we have a four-wheeler, and Ben takes Benjamin for rides on it. And last Christmas he got him a little red rider BB gun. And Benjamin will never be able to pick that up and like load it. But like Ben this summer sat outside with him and was like, All right, buddy, we're gonna shoot a big huge bear, you know, and like laughing and like shooting the little baby gun at a target and just trying to find ways to like make it feel normal and have Benjamin be able to have these experiences with his dad that you know a typical kid would have. And you know, we'll go on vacation, Ben and I will, and you see kids like jumping in the pool and swimming, and you know, they're able to run away from their mom and dad and go do things on their own, and we'll never have that. But I also at this point feel like I wouldn't change it for anything because I don't know who I would be right now if I didn't have Benjamin. Like in the world that we live in, I'm a teacher, I see what other parents prioritize and how I don't know, like intense they are about kids' sports and popularity in our community and like society. And I just think I don't worry about any of that. None of it. I don't have to think about any of that. Like my biggest joy is two weeks ago, Benjamin started feeding himself the I mean, he's been doing some self-feeding, but he sat at the table for like 30 minutes and picked up these little puff things and he was putting them in his mouth. And I'm like, that's the first time that I stood across the kitchen. He sat at the table and he fed himself for 30 minutes, and I felt like I just ran a marathon watching that. Like I had more exhilaration and joy than anybody in the world at that moment, and just all those little things that matter to me and and to my family. Um, and I think I might be a real crazy mom if I had a typical kid living in the community that we live in. Like I prayed it's psycho mother.

SPEAKER_02 22:21

I love that you have gratitude for the simplest of things that the average parent would never even notice. I I love that so much. So, for listeners who may not be familiar with Cat 6, as the majority of us aren't. Can you explain a little bit of how it's affecting your child's development and daily life? What is it like? Are there different levels of severity? So maybe Katie, you can tell us a little bit in your case about Benjamin, and Amy, if you can tell us about Well.

SPEAKER_01 22:54

Yeah, so Cat 6 is a pretty big spectrum, and Amy knows the science behind it way better than I do, and she's a very wonderful speaker when it comes to explaining those things. So I'll just say it like in my mom terms, but um, there's a pretty big spectrum. And I would say Benjamin is in some ways more severe, maybe than other kids. He's nonverbal, he's not able to walk, he is learning to take steps, he can walk in a gate trainer now, but he's not doing anything like on his own. So for me, it's almost like this forever state of having like a six or an eight-month-old. You know, all the things that a parent has to do for their child at that age, I'm still doing those things 10 years later. Once he had his craniosenosis, his brain was able to continue growing. His biggest issue his whole life has been his digestion. And that's a really common trait with kids with cat six. Really, I think our only kids who have passed away, it's been from bowel obstructions or something else that was really, really rare. But the crying when he was little and those episodes that would go on and on were all like constipation, gas pains. Um, and that's something that we still deal with today. So for us, what we have to do is make sure that he goes to the bathroom every day, no matter what. And that keeps him happy and regular. We have to be really certain that he doesn't have any kind of a backup. We did end up with one time in the hospital where he had to have a ball of stool removed that we didn't know was even there because he had done going to the bathroom. But other than that, he's he's actually a really healthy kid. He's had the sicknesses that other kids get, like seasonally. He went through some bouts of pneumonia, but he doesn't have any like organ issues, no seizures, nothing like that. So we're I feel really grateful. He eats by mouth. He loves food, he eats anything that we put in front of him, which is awesome. So he's actually a really healthy eater, which helps. Yeah.

SPEAKER_03 25:03

Yeah. Um, so I can tell you a little about Will. Um, but I think first I'll just kind of explain the spectrum of Cat 6. So we we call it Cat 6. It's actually a combination of two different genetic disorders. There's Cat6A and there's Cat 6B. So it's just two different genes that all of us have. The majority of the people in our support group have Cat 6A. Um but we, after a couple years, we learned from some doctors that there were other kids out there with a Cat 6B mutation, and they were so similar to Cat 6A children that they recommended that we join communities because genetically they're so similar that if if doctors ever did find any sort of medication or treatment that could help their symptoms, it should be applicable to each disorder. So we as a community, you know, you're stronger in numbers, and we can all support each other and relate to one another. But with both syndromes, there's a huge range. Just like in any disorder. There's children in our group that have seizure disorders, there's children in our group born with heart defects, kidney defects, thyroid issues. There's really, really a broad range. There's spinal cord issues and brain malformation. So there's a lot of different things that can go wrong because Cat 6A and CAT6B are called epigenetic regulator genes, actually control how other genes are expressed. So they're kind of like these master genes, as I like to say. You can have a whole variety of symptoms and issues. But Katie touched upon a big one. I would say the majority of our community suffers from GI issues. Um whether it's reflux or constipation, I think that's a pretty common symptom, developmental delay across the board, but it ranges. There's there's there's kids in our group that are running around, riding bicycles, swimming independently. And then, you know, there's children that are wheelchair bound. So there is a big developmental gap. Um there's also some children in our group that are reading and uh doing grade level lab. Yeah. Yeah, like it's really impressive. Um and then, you know, there's other children that aren't able to at least demonstrate their intellectual ability. So it's also really hard to test our kids. Um so my son Will, he is 10 and he's doing very well health-wise. He has chronic constipation, so I think that's something we're gonna manage indefinitely. Like he he takes SENA every single day and has for the last five years. I don't really see a time that we're gonna stop that. Um but otherwise, like he really is healthy. He wasn't born with any heart problems or seizure disorders. Um developmentally, he uh I hate like comparing him to kids from other ages, but he really functions more like a pr typical preschooler. Um, that's the type of work he's doing academically in school, identifying letters and numbers. He isn't yet reading. He's I used to say he was nonverbal, but now I'll say he's like minim minimally verbal. He gets off the bus and he says, Hi mom. And you know, he greets my dog in the house, but it's it's very uh routined phrases. He's not coming home and telling me about his school day or his feelings. It's it's very like basic things. Um open, but he's getting there and like you said before, Katie, I would love to tell that doctor, my son, if I actually sat down and made a list of all the words he knows, I'm sure it would be at least 100 because he knows the names of a lot of people, like all his cousins and friends. Um but what's really cool is that he's able to express himself really well with a communication device. It's called an AAC device. So he has an iPad and it has speech generating software on it. And what it is is you can touch different pictures on the iPad to say how you're feeling or what you want. So Will is a complete whiz with his iPad. He has all these lists and he can find like anything. He can come home. Yeah, it's been so wonderful. Like he can come home from school and he swipes to his TV shows and like typically he'll hit like Wheel of Fortune because he's obsessed with Wheel of Fortune. He I think he just likes the spinning wheel and the lights and maybe van away. I don't know. But yeah, that's been really awesome. And I and it makes me feel really grateful that we're born in this, he was born in this time of technology because he's been able to demonstrate such a deeper understanding because he does have have his iPad with with special software. Like every year, the new teacher he gets or speech therapist, whoever works with him, is always like, Will's amazing on his iPad. He knows everything. And I'm like, yeah, he's really good with it. But, you know, he like similarly to Benjamin, requires my assistance for everything bathing, grooming, dressing, meal preparation. He can eat independently, but like messy. He has a lot of sensory issues, so that can be a tough one. Just handling loud noises at times can be upsetting to him. So he has traits of autism. Transitions are really difficult, and we're actually struggling with that a lot right now. He had swim lessons tonight, and so he he goes to a pool and he has like one-on-one kind of they call it the swim lessons, but it's not typical, yeah. Yeah. But he he's starting to like tread on his own and move a little bit in the pool, but like that transition out of the pool. I mean major meltdown. It's it's tough. And I think as your child gets older, those type types of things become a little more difficult. Um you know, when they're five and under, people are used to seeing that in public, right? But now you have an older kid and it's mostly toddlers at this pool and they're like, What is this big kid doing melting down? So I've had to develop a thick skin, I think, and not care about like what everybody around me is thinking or judging or assuming. So but I would say for the most part, most people are very understanding. You know, once in a while I get a situation where I'm like, really? Uh-huh.

SPEAKER_02 32:26

So how do you each balance uh being uh caregivers, advocates, uh, moms and individuals? How do you find joy in everyday moments? What how are you able to carve the time for self-care in order to take care of Will and take care of Benjamin?

SPEAKER_03 32:52

I'll say self-care is lacking for me, and sometimes it annoys me when people are like, you need to do something for yourself, and I'm like, easier said than done. You know, it's not as simple to get a babysitter for a child with special needs. Um like my family doesn't live locally. My in-laws are about a half an hour, 40 minutes away, but you know, it's not super convenient for them to just pop in. Uh so I think for me self-care happens more when I'm able to take weekends away. And my husband and I do do that a couple times a year. And I think that's the only time I'm actually really able to relax and shut off. But on a daily basis, like it's it's really hard to squeeze in time. I mean, I think just as a busy parent in general, it's hard. I've you know, three kids and their schedules to balance and whatnot. But Will requires, you know, extra attention and you can't just have anybody watching. I don't want to like get too much into the nitty-gritty, but you know, he needs assistance to toileting and things like that, and it's not something that everybody's up for. So it's definitely a challenge. But like for me, my passion is snowboarding. Like, I love snowboarding. I'm one of the only people that's like excited winter's coming. So I will take my other two sons on a mommy son trip alone to Vermont, you know, in January. We'll just be the three of us for a long weekend, and my husband will stay back with Will and they'll do their thing. And we do make sure that we have time individually with our other kids as well. But then usually like once or twice a year, my husband and I have two nights, sometimes only one night, just together and can actually sleep in. And it's it's not as hard to get like a date night, but I don't I don't think I really decompress unless I have a couple days absolutely.

SPEAKER_01 35:12

It's it's a little different for us. I mean, Amy has three kids and we just have the one. So my parents have I don't know where we would be, to be honest, like without my mom. They ended up buying the the we live next door to each other. Long story how that happened, but yeah, there are neighbors, and then my husband's family lives right around the corner from us, too. Like all my aunts and uncles are close and cousins are close. Everybody's really close by. But my mom and dad have taken Benjamin until they physically couldn't, like if we wanted to do overnights or you know, here and there. They helped us out after school. My mom helped me out before school. So I've been really, really, really fortunate. Now that he's bigger, things are a lot more challenging. But we've had some people come into our life that have just been like a gift to us and allowed us to be able to get away just the two of us. And it just so happens that like both of those people or all those people now, there's like three, all have worked in his classroom. They have older children who are out of the house or in college, and so being with Benjamin kind of fulfills like that, you know, young love, you know, just that motherhood. And I don't know if that sounded weird, but I know that he fulfills a piece of their heart too. Um, and they wouldn't do it if they didn't enjoy spending time with him. So we're really lucky to have those people in our life to help out. We did last year just get accepted into a state program, which is not based on your income. It's just based on Benjamin's medical needs, where we now get respite care. So those people that have helped us for years with Benjamin are now able, like we've paid them before. Now we're able to pay them through the state funding, which has opened up a lot of doors for us. Um, he's now on Medicaid where he never would have qualified for that before. Um, like diapers are covered, his thickener is covered, just all these expenses before that were coming out of our pockets. It's been a blessing that some things are covered now, but especially the time. So we make it a point like once a year to take like a four or five night trip. And it's a lot of planning, a lot of work on the front end, but it's really important that we do that. My passion is trout fishing. So when it's springtime, my husband makes sure that you know we have help or he's here with Benjamin on the weekend that I can go up to our cabin a few weekends in May. When it's hunting season, my husband goes and I want him to enjoy what he loves too. So we try to really like balance that for each other too. But but we do have a lot of extra hands in our community. So we're really, really fortunate.

SPEAKER_02 38:04

That's great.

SPEAKER_01 38:06

Yeah.

SPEAKER_02 38:06

What have you learned about resilience and love from your child?

SPEAKER_03 38:14

I don't want to cry. I know. I mean, I I tell everybody that will's the love of my life. Like like I I love all my kids equally, like, right. I'm sorry, no one would say it like that. But it's a different type of love when somebody is fully uh dependent on you and um it you you just have to stand up for them and advocate for them all the time. But there's also no manipulation behind the love that will give it's so pure and genuine, and because we don't have conversations and have these deep meaningful moments in that way, we have these ultimate cuddle sessions. Um I'll be honest, I feel really lucky. I still get to cuddle with my 10-year-old. You know, I you know, my oldest by the time he was this age, he would it would be for like a minute or two and then, okay, mom, I'm going to my PlayStation now or whatever he would do. But we'll he's always he's just always there to smuggle with if you're not having a good day or anything. And I I do look at that as really special and I feel like I'm never gonna experience that emptiness that a lot of moms I know go through. I'm always gonna have well

SPEAKER_01 40:02

Yeah. I think Benjamin is he's pure joy. So he like when that boy is happy and he's happy most of the time, his smile just brings joy to so many people. He's just always smiling. And because he is nonverbal, I am his voice. So I know that what I how I advocate for him, you know, it's fierce and it's passionate and it's never-ending. I'm just his voice constantly, so I feel like I have to be very in tune to his needs and what he wants. And the same as Amy, like he's gonna be with me forever. That's absolutely terrifying thinking about growing old and what his life will be like when I'm not here. I think that's probably for me.

SPEAKER_00 41:02

That's the scariest thing, and I try to like block it out of my mind because I don't want to think about when he doesn't have me. And I know he'll be okay, and we have so many people that love him, and everything will be fine. But you know, while while he does, you know, it's my job, and I don't look at it any different that I'll do anything in the world for him. Anything.

SPEAKER_03 41:28

Yeah, I got I got really emotional last week, Katie, because I don't know if they send this home in Michigan, but um in New York, every three years they do a re-eval on your child to make sure that they like are approved for special education services. So they're doing a full neurological, like psychological IQ testing and everything in the district. But what was different this year is they sent home a questionnaire and it caught me so off guard because it was about his future, like post school. He's 10. Why do I have to answer these questions? Um but they said, Oh, well, he's turning 11 this school year, and this is when you start to plan ahead and they start looking at like what programs and services might benefit him after high school and like he's a fifth grade. Yeah, right. But anyways, filling this questionnaire out broke me. And then I was in a funk for two days over it. And I'm usually really good about it. And a lot of these things that were asked of me were like, what do you picture his life like day to day after high school? And is he gonna have a job? Is it was going through all the things? Is he gonna need Medicaid? Is he gonna need Social Security? Is he like all these like government benefits? And it it was just a lot. And I know that my answers can change, but I think it brought me back to when he was first diagnosed when he was one, and I quickly jumped ahead to the future. Yeah. And I started thinking, oh my gosh, he's gonna live with us forever. I'm not gonna retire and travel the world. And I went down a rabbit hole very early on. And then I think about a year into his diagnosis, I said, I need to stop worrying about the future and worry about today and help support him now. And you know, these are all little steps to that future. But last week having to fill fill in this like questionnaire about 10 years from now, like it it was hard.

SPEAKER_01 43:49

It was I have it was tough. I've I've had a certain person who is just doesn't get it. I see this person I won't I won't even explain. But anyway, they'll be like, what does Benjamin want for Christmas? What is Benjamin excited about for Thanksgiving break? What and I'm like, I don't freaking know. I don't know. Like, I'm just guessing. Like, he loves toys on himself, he likes musical instruments. Like, I don't know. Like, stop asking me these stupid questions.

SPEAKER_03 44:21

I know, like the pop culture stuff, like that's does he like this movie?

SPEAKER_01 44:26

Does I don't know? And Benjamin does have an eye gaze now. So Amy was talking about the technology with Will with the iPad and the software. Benjamin has a Toby, and we're going on like a year and a half, maybe almost two years, of him learning to communicate with us. It looks like a big iPad, and he looks at the different buttons and icons, and it will talk back. And so he's starting to make some choices and starting to get it, starting to grasp, it takes quite a while. So those things, you know, I am hopeful that he'll be able to communicate with us much better. But otherwise, those questions, they just drive me crazy.

SPEAKER_03 45:08

I know. And it's also, I think that's other things that bother me sometimes is when people they they don't mean it, but they'll complain about their kids like talking too much or you know giving attitude or things, and you're like, what I would kill for my son to like talk back to me.

SPEAKER_01 45:30

To go just to there's times that uh a lot of times that I'm like, oh my gosh, I wish he could just put on his shoes and coat and go outside and play. Just go outside and play. Like like the other kids are doing. You know, those types of things where yeah, when other parents complain about things, it's like your kid gets to put on their coat and their shoes and go run out in the backyard and play. Yeah. You know, mine, you know, it's a whole process to go outside and you break your back like when your child can't walk to physically get them outside and I and then like the winter is even harder for you. Uh-huh. I have um a slipped disc in my back. So I have been doing physical therapy. I've never had this before, but today I brought Benjamin to it was my last physical therapy session with me with uh another friend, so my therapist could show me how to lift him properly. So we practice like lifting him onto the potty, lifting him in bed, lifting him in the car. And it's not something I've ever like formally been trained on as a mom, you just start doing it, you know. And it's all those things. It's all the things.

SPEAKER_02 46:55

How has the CAT Six Foundation supported you emotionally, practically, and through advocacy work?

SPEAKER_01 47:06

I would say for me, um the support group has been, I mean, that's not through the foundation, but the Cat Six support group on Facebook has been, like I said earlier, like life-changing. If there's it could be the middle of the night and I can make a post, you know, Benjamin has been crying, I don't know what to do. Like, these are the signs that he's showing, and parents just write back. You can search any topic that you're wondering, it's like, oh my gosh. The tips and tricks that you get from other parents is just amazing. The foundation, goodness, um, there's a pretty big what would you call Dr. Kelly, Amy, like researcher, he was a geneticist.

SPEAKER_03 47:51

Yeah, he he's a medical doctor, a metabolic specialist, geneticist. But now he's like a retired volunteer.

SPEAKER_01 48:01

Specializes in our kids and volunteers to recommend different supplements to my son based on his blood work, which goes through our pediatrician. Without his knowledge, I don't think Benjamin would be where he is developmentally. The foundation has grants, empowered grants for families when they need equipment or need help or help paying for therapies. Just all the research studies that are happening just give me personally so much hope for what are even the next five years gonna look like because we've come such a long way. So I don't know, those are a few things for me.

SPEAKER_03 48:42

Yeah, I think so. For me, I was involved when the foundation first started. Um, I was on the first board of the foundation. Um so I've been a part of the foundation literally from the start. Like I helped make the first website. Um for me, that was really important because when Will was diagnosed, said before, like we were handed two studies and that was it. And I would Google and search and try to find stuff and there was just nothing out there. They didn't even give me like a pamphlet, nothing. So I really felt like I want parents when they get this diagnosis to know that there's others out there, that there's like a community of us and they can find us right away. So basically starting that first website, I think it helped start to heal me a little bit in that I'm I'm like a doer. I have to like take action. Um and I think it's helped me a lot knowing that building this website and then taking on greater roles in the foundation that other people are uh coming to me for support and advice, it makes me feel good to do that. I think just knowing in 10 years we're gonna have thousands of kids diagnosed and we're gonna know so much more. And it's all because like a small group of parents said, We're gonna figure this out. Like nobody else is gonna start this and set up a foundation. We're so rare. I don't even think we talked about how rare we are. I think it's a one in eight million chance of having your child diagnosed with this. Like it's not even just rare, it's ultra, ultra rare. So Will was the first child in New York State when we found out, like, you know, we live in a big state.

SPEAKER_01 50:41

Yeah. I think Benjamin was maybe like the second in Michigan because Gigi's in Michigan too, and now there are maybe six or seven kids. It's like, holy cow! I mean, when he was in the whole state, like that's crazy if you think about it. It was like there were like 175 cases maybe in 2018, and now like known cases, and now it's over 500. I mean, it's just the more people go through the genetic testing, the more science, the more resources, you know, the more we learn. And it's amazing that we can have a foundation where like the CEO or the president of the foundation, like if you need something, you just call them. Send an email, send a DM on Facebook, and like it's such a small family. It's such we have a conference every year, just about every year. I've been to two, one, one conference, I can't remember. I think one. One or two, two of them now. Sorry. Um and it's like you meet these parents for the first time and you just like get it. You just click, you connect, you could sit and talk for hours and hours and hours about your kids. It's so refreshing. It's therapeutic. Um, because you understand each other without having to say anything. And that's really powerful.

SPEAKER_03 52:11

I love I think I've gone to probably five conferences. Like I I've only missed one. I just missed one year on um. But I love going to the conferences. I don't have to explain well. It's like only time I'm somewhere that everyone gets it. We all look out for each other's kids. We're like helping spoon feed each other's child or keeping an eye on them while you go to the bathroom. It's just everybody's it just feels like you've known them forever, like right away. And I love coming year after year and seeing kids that maybe the year before weren't walking, and now I see them the next year walking with a gate trainer, or and then two years later I see them taking independent steps. You know, I think sometimes the parents don't see the progress as much because it's day-to-day, but when you only see someone annually, it's like so amazing. Like this year I had a couple of those moments where I went up to parents and I was like, Oh my gosh, what a difference this year has made. And they were like, Thank you so much for noticing that.

SPEAKER_01 53:20

And we're each other's biggest cheerleaders. Like, you know, a parent will post something on Facebook, something great that's happened, and you know, it's just like the whole community is just celebrating together these milestones or these small steps or it's so special.

SPEAKER_03 53:40

Like anytime someone joins our support group within an hour, people have introduced themselves and their kid. Like we're all so excited to meet new people. And I think we also feel their pain at first as well. But for me, the foundation has just given me a greater purpose. And, you know, I'm just I'm really proud of the work we're doing and how far we've come and that people don't feel alone anymore like we did when I first got Will's diagnosis. Um, you know, we have all the we have like tons of documents and brochures and a handbook and all these articles that people can pull up day one.

SPEAKER_01 54:20

Share with your physicians, you know, to say I was able to take research from our website, published articles to Benjamin's GI doctor and say, listen, this is what could potentially happen if we don't do something. This is a treatment that can help. Let's make this happen. And they're like, I mean, how it's just amazing.

SPEAKER_03 54:43

Totally. And we see that all the time that parents will link us. I printed this out and showed my doctor they did the abdominal x-ray, there was a blockage, and they catch these things before it's too late because sadly, Katie did touch upon us. We've we've lost, I mean, at least 10 kids in the last couple years, and most cases it's GI related. And it's really hard to have an ER take it seriously when they think your child might just be having like an autistic meltdown or um just they'll prescribe them like sleep drugs instead.

SPEAKER_01 55:24

When Benjamin had his his um black edge, it wasn't like it wasn't a bowel obstruction, but it was a ball of stool that was so hard that it was wasn't gonna come through without being surgically removed, and it was causing him so much pain. And we were in the ER for hours, and I was texting with Natasha from the foundation the whole time. She's a physician, she's a cat six mom, getting advice from her. And the the ER doctor at one point said, you know, we've done everything. Are you comfortable going home with him like this? And I said, No, I'm not. We're not leaving until you, you know, do a lower abdominal x-ray, which it's like, why didn't they do that to start with? I said, You can call his neurologist right now. I want a CT, like I want all of I want head to toe him checked out before we leave here. And sure enough, just a simple x-ray, they were like, Oh, wow, look, this is what it was. And, you know, but you you have to fight tooth and nail for your kiddo.

SPEAKER_02 56:25

Yeah, but you do what powerful advocates you are. You're amazing. Sitting here just listening to you, your passion, your power, how fiercely devoted and loving you are with your children, how you believe in them no matter what, against all odds, and you use your voice to advocate on their behalf. You're amazing. What does hope look like for you now? And what keeps your fire burning when things feel overwhelming?

SPEAKER_03 57:01

Well, I this isn't necessarily what keeps my fire burning, but I when I do feel overwhelmed, I feel really lucky that I have friends like Katie in our community that I can text and be like, today's been really hard, and we've both been there for each other in times and we can relate to it. And um sorry, I know that was like not exactly the question.

SPEAKER_01 57:25

No, but I I do think that's important though, because I did want to say, you know, about like our relationship. We were texting him like, how did I remember how we met? Amy's like, I think it's go through the catwalk. But we have texted each other at all all times and hours of the day. I can remember a few years ago, I could not get Benjamin to settle down. And Amy said, take him outside, sit on your steps. Sometimes it's just like that change in um scenery, atmosphere. Just take him outside and see if it will reset him. And I just sat on the front steps in the fall. It was cold with Benjamin. I was crying, I was so frustrated. And I took a few deep breaths, and I think he took a few deep breaths and it helped to calm him down. And I thought I would have never done that, like without knowing that I couldn't reach out to my friend and say, like, I'm ready to lose my mind right now. What do I do? You know? And I think that's hope. Like that right there, knowing that you have power within the community, that gives me hope. You know, power in numbers, right? It's kind of cliche, but it's true.

SPEAKER_03 58:34

Like I also feel like I I kind of like redefine like what hope means, right? Like I think we talked about this a little bit earlier, like what you ex your expectations, you kind of we've had to modify them, but for me, I think I'm just hopeful because when it comes down to it, I have a really happy child, like really happy child. And I feel so lucky. I I don't um worry about that with him. Um I know that we are capable of taking care of him. You know, I think when your kids are little, you have some doubts and you don't have the confidence, but I feel fully confident in in taking care of him. I think my biggest fears are like what Katie said when I'm not here and thinking about uh how he's gonna process that, because I do think our our kids have a deeper understanding and awareness than they are able to show everybody. But I think my biggest wishes for the it would just have to be for the world to see our kids the way that we do. Um and kind of just end up some of this stigma we have about people with disabilities. And I hate how that is the biggest insult. You always hear you know in politics or anything or in comments on Facebook posts, it's always insulting people's like intelligence is like the first place everybody always goes. I wish as a society we would adopt those labels.

SPEAKER_02 1:00:20

One can only hope for acceptance and understanding and kindness. And I feel like sadly in today's world, that's become harder to find.

SPEAKER_03 1:00:31

Yeah, it's been really hard. And I think lately, like there's you know, there's a lot of talk about autism and vaccinations and all these things. And I see a lot of people in comments that don't really have any personal experience with what Katie and I go through in in the disability community and kind of like mind your own business. Why do you have an opinion on this? Because it's like it it it hurts to even like have some of the conversations that I read are just terrible.

SPEAKER_02 1:01:12

So that's the good and the bad about the internet, right? The internet can help connect you, but the internet can also add so much stress to your life. It's the flip side to the coin.

SPEAKER_03 1:01:24

I know. I say it all the time that I would leave social media, but I can't because of my cat six group. Like I just can't.

SPEAKER_01 1:01:33

I think for me, the fire is I'm a doer like Amy is too. Like, if there's an issue, I want to fix it, what can we do to the problem solve? I don't want to complain, I just want to do something about it. And so my fire is like, what's next? How can we help? How can we make a difference? How can we make a change? You know, it could be some of those simple things is like, we need a changing station in our bathroom for bigger kids with disabilities, or why don't we have automatic doors, the doors that lead into the special ad room in my school? Like, you know, we got six wheelchairs going in. Like those things that I know that I can make a change, that's kind of where I get some of my my fire. And my hope comes from Benjamin because he is making such a difference in our community, and he is creating this ripple effect of awareness and joy and kindness and kids who want to hang out with kids who have disabilities, who want to support. Um, it's changing the culture in our community that we never had before. Um, and it's not just Benjamin, it's all the kids in his class. My hope really is that he and I together, but he will continue to change the world because he is changing the world. One student at a time who will take some empathy away or extra kindness or look at someone with a disability and not feel sorry or sad for them, but want to help and want to hang out with them. So that's my hope is just that that will continue what he's already created. And I hope I can be the fire behind it, like the fuel behind it for him.

SPEAKER_02 1:03:31

I love that so much. Hearing your stories today reminds us that even in the rarest of circumstances, love is universal, and courage can be contagious. You've shown us what it means to stand in uncertainty with grace, with courage, with kindness, and to turn fear into advocacy and to light the way for others walking the same path. To all the parents out there facing a diagnosis that changed everything, you are not alone. Communities like the CAT Six Foundation exist because of mothers like the two of you who refuse to let rarity mean invisibility. Thank you both for sharing your hearts, your stories, and your unwavering belief in what's possible. Your children and this world are better because of the two of you. Thank you. Thank you so much.

SPEAKER_03 1:04:40

Thank you, Tanya.

SPEAKER_02 1:04:43

Thank you for spending time with me today. If you enjoyed this content, please make sure you subscribe to this podcast and leave a quick review to help us share the message.