Two Kids. Two Undiagnosed Disabilities.

Summary

The video script narrates the challenging journey of parents raising two children, Colbie and Leighton, both undiagnosed with developmental delays. Despite normal pregnancies and initial developmental progress, the children lag behind peers, facing difficulties in motor skills and communication. The family navigates through various therapies and medical consultations, seeking answers and support. The parents express their emotional struggle, the desire for simple communication from their children, and the hope for a diagnosis to bring closure to their journey.

Takeaways

• 👨‍👧 Parents are struggling with their children's developmental delays and the lack of a clear diagnosis, which makes it difficult to understand and address their needs.
• 👶 The children, Colbie and Leighton, are both undiagnosed with normal brain scans, but exhibit symptoms like hypotonia, motor delays, and need for constant assistance.
• 🤔 The parents yearn for even basic communication abilities from their children, such as a simple 'yes' or 'no', to alleviate some of the challenges they face daily.
• 👪 The family dynamic is heavily influenced by the children's conditions, with parents taking on roles more akin to caregivers than traditional parents.
• 👩‍⚕️ The family has consulted numerous medical professionals, including neurologists and geneticists, all of whom have been unable to provide a definitive diagnosis.
• 🧬 Genetic testing has revealed mutations in the children, but these do not clearly align with any known syndromes or conditions, leaving the family without answers.
• 🏠 The family faces the emotional toll of having their children's lives and their own heavily centered around medical appointments and therapies.
• 🎵 Music is a significant source of joy and comfort for Colbie, who prefers classical music over more contemporary styles.
• 👀 Leighton is using an eye-gaze device to communicate, showing excitement in being able to make choices and interact with his environment.
• 🤷‍♂️ The parents grapple with societal comments suggesting they are 'chosen' or capable of handling their situation, which they find frustrating and unhelpful.
• 🌟 There remains a small hope for a future diagnosis that could provide clarity and potentially a better understanding or treatment for their children's conditions.

Q & A

What is the main concern expressed by the parents about their children's development?

The main concern is that their children, Colbie and Leighton, are not meeting developmental milestones such as speaking and walking independently, and they are both undiagnosed with no known syndrome or condition despite normal brain scans.

What does the term 'hypotonia' refer to as mentioned in the script?

Hypotonia refers to a lack of muscle tone, which affects both fine and gross motor skills, as experienced by the children in the script.

What is Leighton's method of communication as described in the script?

Leighton is working on using an alternative and augmentative communication (AAC) device, focusing on choices with his eyes to communicate his preferences.

How do the parents feel about the geneticist's and neurologist's opinions on the possibility of having another child with similar issues?

The parents are concerned and anxious about the 25% chance of having another child with similar undiagnosed issues, feeling like they are gambling with a human life.

What role does Heath, the transportation supervisor, play in the family's life?

Heath is a dedicated professional who sometimes struggles with balancing his work obligations and the needs of his children, who require constant care and attention.

What is the significance of music in Colbie's life according to the script?

Music is very important to Colbie, serving as a source of enjoyment and comfort. It is also mentioned as a way to soothe her, although it might sometimes mask the underlying issues.

What is the parents' perspective on the comments from others about being 'chosen' to handle their situation?

The parents find such comments frustrating, as they believe anyone would do the same in their situation and do not feel 'chosen' for this experience.

What challenges do the parents face in terms of their children's healthcare?

They face challenges with the lack of a concrete diagnosis, which complicates getting appropriate funding and support for their children's specific needs.

How do the parents describe their experience with the medical community?

The parents have consulted with various specialists, including physical therapists, occupational therapists, and speech physiologists, but still lack a clear understanding of their children's conditions.

What is the parents' emotional state regarding their children's conditions?

The parents express a range of emotions, including frustration, sadness, and a sense of responsibility, while also holding onto hope for a future diagnosis that could provide answers and relief.

What is the parents' view on the importance of communication for their children?

The parents emphasize the critical importance of communication, stating that even a simple 'yes' or 'no' would significantly improve their children's quality of life and their ability to understand their children's needs.

Outlines

00:00

👶 Challenges of Parenting Undiagnosed Children

The first paragraph introduces the struggles of a parent dealing with the developmental delays of their children, Colbie and Leighton, who are undiagnosed. The parent expresses the difficulty of comparing their children's progress to typical developmental milestones and the frustration of not knowing the cause of their issues. They also mention the challenges of breastfeeding due to the child's low muscle tone and the emotional toll of waiting for their first words and steps.

05:04

🏥 Medical Journey with Undiagnosed Children

This paragraph details the extensive medical consultations and therapies the family has undergone, including physical, occupational, and speech therapy. It highlights the normalcy of the children's brain structure on scans and the parents' experience of not knowing the specific condition affecting their children, which complicates their medical journey and daily life.

10:07

👨‍👩‍👧‍👦 Coping with the Emotional Impact of Undiagnosed Conditions

The third paragraph delves into the emotional challenges faced by the parents, including the guilt and fear associated with having a second child who also has developmental delays. It also touches on the father's professional life and the balance he tries to maintain between work and caring for his children, as well as his reflections on the independence and capabilities of his students compared to his own children.

15:10

🤔 The Search for Answers and Support

The fourth paragraph discusses the ongoing search for a diagnosis and the limitations it imposes on the family's access to certain funding options and support. It also describes the children's physical therapy and the parents' concern about their children's future health, especially regarding spinal issues, and their determination not to let the search for a diagnosis consume their family life.

20:22

🎵 The Role of Music in the Children's Lives

This paragraph highlights the importance of music in Colbie's life as a source of enjoyment and comfort. It contrasts the family's current situation with the dreams they had for their children and the emotional complexity of being a parent to children with undiagnosed conditions. The parents express their desire for simple forms of communication from their children and the support they find in each other.

27:34

🌟 Hope for a Diagnosis and a Better Future

The final paragraph conveys the parents' hope for a future diagnosis that could bring an end to their journey of uncertainty and provide clarity for their children's conditions. It also reflects on the parents' feelings of being more caregivers than typical parents and their longing for the simple expressions of love and affection that their children may not be able to give.

Keywords

💡Developmental delay

Developmental delay refers to a condition where a child does not meet developmental milestones within the expected age range. In the video, it is mentioned that the children are 'lagging behind' and 'still waiting for an unassisted step', indicating that they are not reaching physical and cognitive milestones at the same pace as their peers.

💡Hypotonia

Hypotonia is a medical term for reduced muscle tone, which can affect a person's ability to move and perform physical tasks. The script mentions 'low muscle tone' and 'hypotonia' as issues the children face, particularly affecting their ability to breastfeed and engage in motor activities.

💡Undiagnosed

Being undiagnosed means that a person's condition or illness has not been identified or confirmed by a medical professional. The video discusses the children's situation as 'undiagnosed,' with no known syndrome or condition despite numerous medical evaluations, which adds to the family's struggle and uncertainty.

💡Communication

Communication is the process of exchanging information, ideas, or feelings. The video emphasizes the importance of communication for the children, as they express a desire for even a simple 'yes' or 'no' to facilitate interaction, highlighting the challenges faced by individuals with communication difficulties.

💡Caregiver

A caregiver is someone who provides care and support for another person who needs help due to illness, disability, or age. The script describes the parents feeling more like caregivers than parents, indicating the intense level of care and support they provide for their children, which is central to their daily lives and identity.

💡Geneticist

A geneticist is a medical professional who specializes in genetics, the study of genes and heredity. The video mentions the children seeing a geneticist, which is part of the extensive medical evaluation process to understand potential genetic factors contributing to their conditions.

💡Neurologist

A neurologist is a doctor who specializes in the diagnosis and treatment of disorders of the nervous system. The script refers to the children seeing a neurologist, indicating that their conditions involve neurological aspects that require specialized attention.

💡Independence

Independence refers to the state of being self-reliant or not depending on others for performing tasks or making decisions. The video contrasts the independence of other children with the children's reliance on their parents and caregivers for even basic activities, emphasizing the emotional impact of their conditions.

💡Physical therapy

Physical therapy is a type of treatment that helps individuals improve their movement and manage pain or limitations. The script mentions seeing a physical therapist as part of the children's routine, which is crucial for addressing their motor delays and enhancing their physical capabilities.

💡IDs device

An IDs device, or an alternative and augmentative communication (AAC) device, is a tool that helps individuals with communication difficulties to express themselves. The video describes Lleyton using an IDs device to make choices, which is a significant step towards independence and self-expression for him.

💡Dystonia

Dystonia is a neurological movement disorder characterized by involuntary muscle contractions leading to abnormal movements or postures. The script briefly mentions dystonia, indicating that it is one of the many conditions the family has encountered during their medical journey, adding to the complexity of the children's health situation.

Highlights

The struggle of parents with children who are developmentally delayed and the emotional toll it takes.

The parents' desire to understand their children's experiences and the challenges of communication.

The daily life and routines of the children, including the need for assistance with basic movements and interactions.

The parents' reflections on their initial dreams and expectations for their children's development.

The process of seeking medical help and the journey through various specialists and diagnoses.

The emotional impact of receiving a normal MRI scan result yet still dealing with developmental issues.

The use of assistive devices and methods to help the children communicate and make choices.

The parents' feelings of joy when their children achieve milestones, however small.

The decision-making process and emotional considerations of having another child with a risk of similar issues.

The parents' professional lives and how they balance work with the needs of their children.

The unique challenges faced by the parents in their roles as educators and their reflections on their students' abilities.

The physical therapy and medical interventions the children undergo, including the use of an inner gate trainer.

The financial and logistical challenges of seeking treatment without a formal diagnosis.

The genetic factors and the complexity of understanding the children's conditions without a clear diagnosis.

The parents' frustration with the medical system and their decision to limit the number of hospital visits.

The importance of music in the children's lives and its role in soothing and engaging them.

The parents' reflections on their identity as caregivers versus traditional parents and the emotional implications.

The support system and teamwork between the parents in managing their children's care.

The ongoing hope for a diagnosis and the impact of uncertainty on the family's life.

Transcripts

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