Wanna sit up? One, two, three.... up up up. Let's go see mom. Do you want music? No you want your food. Everything is different. Everything's not the same as other people. Hey Leighton It's hard to look at those charts of this is where your baby should be at this age and this is where they should be at this age developmentally and still waiting for a word. Still waiting for an unassisted step. Do you want me to get you some more juice? Can I have that? It would be so invaluable to be able to put myself in their head for ten minutes and feel it and to know what it sounds like and what it looks like. Just having a simple 'yes' or 'no' for communication would solve a lot of problems. I had this dream when we were starting a family thinking about what life is gonna be like when this baby came into the world and the things that we would do together. And if it was a girl that, you know, we'd shop together and we'd do crafts together like I did with my mom. And if it was a boy they'd play sports outside and... Pregnancy with Colbie went without
a hitch. It was normal pregnancy. Developmentally she was right on track. We had a lot of friends that had babies right around the same time we did. One of our friends like mentioned something to Mara like, "Is everything okay with her? She just seems to be lagging behind." The whole time you're just kind of, "Oh, she'll come into it you know." Looking back at it now she was behind from day one she was behind. I did have some difficulty breastfeeding her because of her low muscle tone even her tongue muscle was not doing what it was supposed to be doing. Not that that was super abnormal at that time but it didn't get better. Hypotonia which is just lack of muscle tone, there's fine motor delay, there's gross motor delay. I've heard dystonia before, I'm not even sure what that is off top of my head to be completely honest with you. Every day was something different. Different doctors... we saw a physical therapy, occupational therapy, speech physiatrist. I mean we saw doctors I didn't even know existed. It wasn't just about taking a step anymore. It very quickly became more than that. Both Colbie and Lleyton are undiagnosed. They have no known syndrome or condition. All of the MRIs that have been done on Colbie and Lleyton have all come back normal. The structure of the brain and the makeup of their brain looks normal on all scans. Bus is here babe. Up up and away. This little video is about the Muppets and the weather. They are always seeking input because they don't know where their body is in space. They're not standing, they're not sitting down on their own. Someone's always helping them do that. They're always trying to find something like Lleyton... Some kind of interaction. Some kind of body contact. A tactile input. Bubbles or book? Look at me. Colbie. They've never really regressed with any of their symptoms. It's just been a very slow progression. Push the button please. Oh you're gonna try, hold harder. Good job. You're going so fast today. Lleyton is currently working on using an IDs device. He focuses on choices with his eyes. He will stare at the object that he really wants. Each cookie or each
cracker? You picked cracker good job! I think he's excited that he gets to communicate with us and he gets to make choices. We're continually raising our children and doing things for them and when they start doing things on their own, it's.... we feel so happy for them that they have that freedom and that independence. He got really excited When we decided to have Lleyton, Colbie had already been seeing a neurologist, a geneticist, and her regular pediatrician. And the geneticist and neurologist could really just tell us there's like a 25% chance that this would happen again. Multiple people that we respected, you know, for their medical opinion said, you know it's an anomaly. I'm done up here Heath. I specifically remember saying to her like if this happens again you know I might lose my mind. I might not forgive myself for that you know. Knowing that there is a possibility even just a 25% chance like you're... you're gambling and you're gambling on... It's a human, it's a human life. It's not like you're just playing cards Have fun driving the bus. I don't remember if I got a specific call on that but that's the thing any of those things we for sure address... Heath is the transportation supervisor for our school district here in Homestead Falls. He is at work a lot. Days are long. You'll pull up and if Sandy's behind you you can just radio her. I'm a dedicated person I try to get my job done and do my job well and I sometimes struggle with that I have a job here to do too you know and I want to make sure that I'm not focusing more on my professional obligations and neglecting stuff that needs to be done here, things that the kids need. I chose a profession that really works well for how our family situation has turned out Things that are difficult for our kids to perform are not even probably thought about with the students that I teach and them not even realizing how lucky they are that they can do those things so easily. I don't know if our kids will ever even get to that point. Arms out. A little bigger since the last time you've seen them? Just a little. Good job. Hold it. Colby, stand up stand up come on. You got a big smile on your face but you're not participating. You're not gonna help me. She's doing the same thing walking with a little assist from behind an inner gate trainer. Does she see someone? She's got a little curve. She does? We haven't really heard that one before. See if she takes some weight. There's a little gentle curve here. What would you do about something like that? Like just to make sure it doesn't get worse. She probably needs at some point just the baseline x-ray to see what the degree is. It looks mild at this point so we start to worry when the curve gets beyond about 20 degrees. and depending on what the degree is... There are some funding options that we could be presented with, but because we don't have an actual diagnosis they just have "symptoms and syndromes" that don't really qualify under anything. So with the mutations that they both carry, the one mutation has been seen in children that have developmental problems, microcephaly etc. but for the disease to happen you have to have it on both sides. They do have mutations of the same gene but they're in different points on the gene and so based on that it's really a little bit tough to know for sure whether or not this is in fact what's responsible. The fact that they both have it again raises the suspicion a little bit higher because just by random chance for them both to get exactly the same one would be unlikely. I guess I'm reminded why it's we don't have to come here more than once every two years. We're not just gonna be lab rats. I'm not gonna live my life and make the kids spend their lives in hospitals and you know just our fun time isn't hanging out and goofing around as a family we go to the hospital for this or for that. That was... I'm sick of that. I was done with it. I don't wanna deal with it anymore. Like if we could have one thing communication would be it. For them to tell us like what's wrong not just complain about it. What's the matter Colbs? Got a bad song on? Very nice. Roll over, keep going. Big jump. One, two, three.. Down. Put your head down, down. You got it. Music with Colby, it's everything. It's the most important thing I would say that that she enjoys in her life. She likes classical style stuff she doesn't like poppy stuff that kids her age are probably now listening to. It's hard because I feel like sometimes we don't even get to the answer of what's really bothering her we just kind of soothe her with the music on her headphones and we've kind of lost what she was looking for. One more. Okay Colbie, you can do it. It's mind-blowing sometimes being around friends with their kids and seeing them do things on their own and what they can do. Their parents enjoying themselves and enjoying their kids being independent. It's not necessarily being upset that we don't get to do it. It's upset that the kids don't get to do it and don't get the same enjoyment that other kids do. We're parents in the sense that we created Colbie and Lleyton... but I don't always feel like I'm a parent. I feel more like a caregiver. But I know they love us because they get excited to see us. It would just be nice to get that "I love you." or a kiss or a hug. I couldn't do it without her. We're just a good team I guess you know. It works. There's a frustrating thing sometimes too, like I know Muriel doesn't like it when people say, "Oh you guys were chosen it was... "You were given this because you can handle it." It like pisses you off you know. We like to think that anybody would do the same that we do you know. I don't know if that's the case or not. He's gonna come to a point where it's not just us that are physically moving them and helping with them. That's probably always kind of a weight on my shoulders is what's that going to be like? I think they're probably all over there with the kids. Ready to do this? Colbie, Colbie, Colbie. Until we really find a diagnosis I feel like I'm always going to have that little glimmer of hope that something will be discovered. Just to end that journey for that to be over and not have to worry about it. Cause it's always on the back of my mind. you
I'm sure I'll get a lot of hate for this, but wouldn't a more merciful and ethical society have humanely euthanized these children in infancy? Is that fundamentally ethically different than aborting a fetus with a detectable genetic syndrome?
I feel so bad for these parents, especially when they said they talked to specialists and said there was only a 25% chance of it happening again and they had another kid and had the same disability. The dad said he didn't know if he could live with himself if it happened again, and it did.