A Mother's Experience Navigating An Unexpected Diagnosis: Pompe Disease + Ways To Find Support And Community

In this week’s episode, Molly opens up and allows herself to be vulnerable about her recent struggles. She shares how she’s been feeling and her efforts to find support and relief. 

Of course, it wouldn’t be a Momsense episode without a quick chat about the books they’re currently reading. Tune in to hear their thoughts on recent picks (some popular titles are mentioned!).

Then, Molly and Megan dive into the episode’s main topic: navigating an unexpected diagnosis. Megan discusses her daughters’ diagnosis of Late-Onset Pompe Disease—a rare condition she had never even heard of before. She explains what the disease involves, how it was diagnosed, and shares helpful tips and resources for other parents who may find themselves in a similar position.

Please visit bio.site/momsensepod for the resources link referenced in the video.

Thanks for spending part of your day with the Momsense ladies—and don’t forget to quarter your kids’ grapes!

TOPICS:

Maternal Mental Health, Support for moms, the Libby App, bath time struggles, Pompe Disease, Rare Disease Diagnosis, Newborn Screening, support and tips for parents of a newly diagnosed child

*Disclaimer: This episode was recorded in July of 2025. The information shared was Megan's personal experience and understanding at the time of recording.

Episode Transcript

(00:10):
Welcome to the Mom Sense podcastwith Molly and Meg.
I'm Molly. And I'm Meg.
Wow, that was the very first time that I ever did it in a
different tone of voice. Felt weird.
I didn't notice. I usually go I'm Molly.
Wait, yeah, you do. Yeah, I do.
And then I follow the cadence usually too now when I think of
it. Yeah, purposefully was like, I'm

(00:32):
going to say it with a differenttone because I get really
annoyed when I edit and I go I'mMolly and I always do a head
thing. So embarrassing.
OK, I have to self disclose at the beginning of this things
going on with me. I'm going to try to explain it
while keeping my privacy. I have not been myself since

(00:52):
Monday. I don't know what's going on.
I'm so frustrated with everything.
I feel like I could cry at the drop of a hat.
My mom was supposed to come today because I think she's
worried, could use the help, andthen she couldn't come today, so
I'm going to her tomorrow. But the idea of getting out of
the house has been miserable. But then I'll feel so guilty for

(01:13):
not getting out of the house. Yeah, when I plan to do
something out of the house. I talked myself out of it
because it sounds like a lot of work for no benefit.
And Penny has been whiny and fussy and I think she's
teething, but I have no idea. And then she started to crawl,
which is fantastic and I hate tocomplain about it because I'm so
happy she's. Crawling anyone's going to get a

(01:34):
complaint. It's the people who listen to us
so. Yeah.
Doing but. It's it's the fact that I feel
like I'm back at square one where I can't do anything while
she's awake. I have to be eyes on all the
time and I can't get anything done.
And then during her naps I just want to take a breather and then

(01:55):
I get nothing done. My house is such a mess and I'm
so overwhelmed with having to clean it right now.
I don't know what's wrong with me.
I haven't felt like this in SO. Long Well, you had said it to me
that you came off of being on vacation and she's crawling now.
You're coming off vacation to a whole new dynamic, basically.
Because yeah, when they are crawling, they still get really

(02:17):
frustrated. You're concerned about your
house in a way that you haven't been concerned about your house
before. So I understand where you're
coming from. I'm looking for ways to lift my
mood right? So typically, reading lifts my
mood. Finishing a book gives me the
sense of accomplishment. But I don't have all this time
to read. I can't finish a book every

(02:38):
single day, so I'm looking for something small, easy,
accomplishable that I can do that lifts my mood and makes me
feel good. Of course the podcast is a
dopamine hit, but we record oncea week and we put it out once a
week. It's not a daily excitement
thing. I have tossed around this idea
of opening a bookstore and the planning for that really helps.

(02:58):
However, it's just not realisticto do it right now, so I just
need something to make me feel better.
I have to get out of this because I feel like a horrible
mom and I also feel like a horrible wife.
I don't know what to do about itso.
Yeah, I mean, I got. Anyways, anybody has go ahead,
any stay at home mom has a tip for what you do to like make

(03:21):
yourself feel good and give yourself a boost?
I'd love to hear it. If I had a good one I would give
it to you, but the things that Ido help some days and don't help
others I I'll take those suggestions as well.
Yeah, me feeling this way makes me think about you.
I do have my mom who can help occasionally.
Yeah, she's not close by, so it's not very frequently.

(03:43):
But like you've never had any anybody that will just walk in
and help and you trust fully andgives you 5 minutes.
You've never had that. I don't know how your mom
without that. Thanks for saying that makes
better cry. Yeah, makes me want to cry.
I want to cry. And I do have somebody that I
can call if I'm really not well.But I don't know how you can be

(04:06):
a mom without it. And that's where I don't know if
my experience is significantly different than other people's or
if there are like, if you're just this like stellar mom that
can handle this, Oh my God, we have to stop talking about it.
No, I have to drop that every single day.

(04:28):
I end of the day with more regrets than wins.
Like Colton tells me all the time all the things that I
should be proud of. And I'm like, that's nice to
hear, but it kind of means it doesn't.
Doesn't that ring a bell to you like sometimes it?
Doesn't help. People will give you positive
feedback and it's like it doesn't do anything for me.
Which what? Is it?

(04:48):
A cognitive distortion? You learned something.
Unfortunately, it's haunting me now.
My whole personality is cognitive distortions.
I've learned. Yeah.
At the end of every day, I feel regret about how I went through
the day and things that I could have done better and didn't do
better and how it's negatively impacting my kids now and in the

(05:10):
future. Yeah, I feel that way all the
time. And I don't get reprieve.
Some of it is not my choice and other pieces are my choice and
it is hard. Also, your reprieve, somebody
that you really love and trust is far away and has a lot going
on too. And you're really considerate of

(05:31):
that. So I'm sure to you it doesn't
feel like it. Like I'm sure it comes with
strings. Not, not from her by any means,
but like how you feel about it. You're like, I don't want to
whatever. Yeah.
So I'm sure that if you had somebody in your corner who was,
you know, down the road, like the people who, like, live
really close to their parents and have a really strong
relationship with their parents,I feel like that's probably got

(05:52):
to be like it. Yeah.
Top tier. Yeah, I don't.
I don't know. The fact that I can go to my
mom's when I'm having this hard of a time is wonderful.
And I just don't know how the moms do it that don't have that.
I don't know. Every time I talk about this I
feel like I'm complaining and that's not what I'm trying to

(06:15):
get across. I don't feel like you're
complaining. Oh man, that's our own cognitive
distortion. Yep.
OK, so let me tell you today my goal was to get us out of the
house because I haven't for the last two days other than the car
rides. So I was like we're finally
going to go to the library. I said that in the morning when
I woke her up, felt really good about it.
As the morning went on, I was like, I just don't know if it's

(06:37):
even worth it. What's she going to do there?
I don't need any books like I'venever been to the library.
So I guess I just don't didn't know what there would be for
her. I don't know I was overthinking
it. But we went, we pulled into the
parking lot. I got her in her stroller and
then realized that there was like a huge staircase up to the

(06:58):
front door. And I was like, there's got to
be a handicap entrance because there's no way that they would
expect older people to go up allthese stairs.
And I was like, and I can't carry her stroller and her up
all these stairs. So I walked around the building
and there was a handicap entrance that was under
construction so we walked aroundthe block and went home.
JK we walked around the block and I took her to see Taylor at

(07:20):
work which she cried the entire 30 minute drive so it's not
worth it. I should have just stayed home.
I don't know why today was such a crappy day.
I was just like, dude, come on. Yeah, I would have done the same
thing. What's the alternative?
Going in and carrying her the whole time and fighting with her
when she wants to? Like, no, yeah, Yeah, I would
have done the same thing. That blows.

(07:42):
I'm sorry that happened. Yeah, so I was like, I'm not
voice message you and tell you that as soon as I was like
giving the library. But I was like, you know what,
I'll just tell her. She meant I'm going to talk to
her anyway. It's just like a zoo story
recently. I'm not trying to add insult to
injury, but when I say this but like to validate you not just
complaining, you also have the same sort of debacle when it

(08:03):
came to finding an outfit for your family photos.
So it's like, it's been a lot. I was telling my mom that I
think it all stemmed from I was,I had our trip last weekend
amped so high up in my head. I was so excited.
I had such high expectations. And then it kind of fell flat,
like it just didn't go as well as I wanted it to.
And I think that just like, started this downhill spiral and

(08:25):
I'm like, desperately trying to claw myself out of this hole.
I'm just not having any luck with, like, anything I've been
trying. So yeah, just gonna try again.
I completely relate to that, especially if you were looking
forward to something like a vacation or getting out of the
house for something and it doesn't go according to plan.
You're like great. And now I get to go home and do

(08:47):
walks back into the door of guilt and shame and feeling like
I'm not doing enough. I'm at this weird age where
Penny wants to get out of the house.
You can tell she gets really cranky right before her second
nap if we haven't done something.
But she's not old enough to let go to a splash pad, go to a
museum, go to a lot of these things.

(09:08):
She's not old enough to like, walk around and actually enjoy
them. It would just be strolling
around in a stroller and looking, which I know is
beneficial, but it just feels like she's not quite at the age
where it's worth it. So it's at this really weird
phase where I just can't find things that we could do that

(09:30):
seem worth it. But that also might be my skewed
point of view that I don't thinkanything is worth it at the
moment. Yeah, I mean the easy answer.
Is to do it anyway. Not, I mean, not even to do it
anyway, but instead to do thingsyou want to do anyway.
Because if she's not at the level where she's going to be
really engaged with things for her age group, then you do stuff

(09:53):
that you want to do. But The thing is, is that if
you're already feeling down, those things come with, well,
she might throw, she's going to have to prep all this.
Yep, I get it. And yeah, I don't know what you
do about it. I don't know.
Me either. OK, my last thing that I was
going to talk about is I gave Penny a bath right before I put

(10:18):
her down tonight and I I feel like I was waterboarding this
kid. How do you get her to tip her
head back when you have to rinseher hair?
I snap my fingers up here. She does not care.
I hold toys up by her face so that she tips it back.
She doesn't care. I feel like I dump a cup of
water on her head and she's likegagging.
I'm like dude, I'm sorry. Then I have to do something

(10:39):
stupid and funny to make her laugh.
Well, I'd put that I have a suggestion for you, but you
just, yeah, you just you said you've.
Already said it. Hang a toy right here.
Yeah, no, I tried. Believe this thing.
You can stick this on the whatever.
Oh, you brought a prop. Yeah, I did.
I just I mean I had to walk 3. I have the.

(11:00):
Bathroom it's I have it some yeah and then.
I mean, I don't, yeah, I don't have it in the bathroom, so
maybe I'll bring it in there. But I do have those.
Maybe I'll try because I don't get it.
Like, it was easy when she was in the reclined bath seat
because her was already reclined.
But now that she's in like a seated 1 where she's sitting up,

(11:21):
she looks down the whole time and I'm like, dude, I'm gonna
get it all over your face, right?
Yeah. I don't, I don't think that I
ever got away from it with Reese.
I think Reese eventually just started to comply, probably out
of trauma, and then Reese will now help with Brooke.
Brooke pretty much ignores me, but Reese will tap on the wall

(11:44):
and Brooke will look at that. And so now Brooke's now Brooke
doesn't. I don't know, but it took.
I mean, that just happened recently.
My gosh, it takes forever. I thought at some point they
would start tipping their head back.
I mean, maybe they do. Maybe other moms know something.
You and I don't know, but yeah. Hopefully, but it will chime in
because yeah, I feel so bad. I guess we don't need swim

(12:05):
lessons. She's already figured it out.
That's so funny. Yeah, a tap on the wall.
But you said you snap. So yeah.
But she's asking for it, is whatI'm hearing.
Seriously. You can do.
Seriously, whatever. OK, tell me about your because I

(12:28):
just did 30 minutes on me. Which is OK, by the way.
I mean, I could give you the rundown of what my kids have
been up to, but I don't think everyone really gives a about
that. So I'll I'll spare you this
episode. Maybe I'll do it next time.
Who knows? That's that's the thing though.
So like when I see people who I don't talk to you regularly and
they're like, so how are you doing?
I get smacked in the face. No, I get smacked in the face

(12:52):
with reality and I'm like, the only thing is I'm gonna tell you
are what my kids are doing. I don't have updates for me
really like. Yeah.
I might tell you, yeah, no, like, I mean, I can tell you
like I saw Molly this week, but they don't care about that.
They want to know, like, what are your life updates?
And I'm like, am I driving my child to a different location

(13:13):
than I was three months ago? We're going to a different city
for her activity over. You don't care what they're
doing. I mean, it sounded rude, but
they probably don't. I don't have any updates for me
usually. So when I do give updates, it's
always like. Kid related totally.
Yeah, mine too. Mine too.
Yeah, so I don't have anything really, but I'm solo parenting
again end of this week, which I did all last week.

(13:36):
And like I said last episode, metric F ton the last six months
and I'm getting good at it, that's for sure.
But it is. Exhausting.
I can only imagine. Yeah, it's it is a lot.
I wake up in the morning and I'mlike, dude, just sitting,
staying at home. Not sitting because I swear in
my life I don't sit ever. But staying at home today sounds

(13:58):
like a dream. Oh, wait, no, it doesn't because
that means that it's just, it's just a lot.
And so we get out and I know that getting out is like great.
And it's going to make them tired.
It's going to make bedtime go OK.
But then at the end of the day, I'm like, I have a short fuse.
So I'm feeling that. I said I wasn't going to give
any updates for my kids, but Reese is doing a it's like the

(14:18):
kids art prize at the library. It's a competition.
And so we went to go get a bunchof stuff for her submission and
worked on that and it just, it took a lot out of me.
So it's always a trade off. You can stay home and get
frustrated at home or you can goout and feel exhausted after
showing kids around all day and going to kids.
So I chose the latter and here we are.

(14:41):
Good question for you. And it's a follow up from our
conversation about raising confident kids and you we had
talked about praise and how likewhat's the phrase you used
labeled praise, labeled praise. Thank you.
So in my own personal opinion, Ido that and I swear if I screw
up and say something like I'm pointing out a negative about a

(15:04):
behavior, I swear she notices. Of course, like anybody would,
she listens to that when I give her my labeled praise, I she
doesn't even look at me. Sometimes I feel like it goes in
one ear out the other, right, thanks.
And I'm like, wow, that was spectacular.
And I noticed it and I will tellher and I she doesn't even,
she's not even like OK or. She doesn't say.

(15:26):
Nothing. No.
What is that like? I mean, most people don't.
Yeah, most people don't. Especially if you do it pretty
like you do it often and you don't criticize very often.
Also, people have an emotional reaction to criticism, and they
don't have an emotional reactionto praise.
She would notice. Yeah.
Yeah, she would notice if you didn't praise her like behavior

(15:50):
and herself esteem would show that you're not a praising
parent. Yeah, I would say that there are
signs that kids are not praised,are there?
Yes, praise her, but I sometimesI'm like she didn't hear me.
I don't think that's the yeah. I wouldn't hang your hat on
whether or not she responds to the praise, OK?
That's still worthwhile. Yes.
It's like she just doesn't care,OK?

(16:12):
Because I mean it, the stuff that she does sometimes she is
just so considerate when it comes to other people.
Or like lately, I know I say this a lot, but sometimes she
goes to sleep and wakes up and they'll have a new skill.
And recently, Reese has been able to articulate her feelings
and opinions on things in a mature way.
It's not just like a tantrum. She said something to me 5000

(16:37):
times and I was like, Reese, I heard you.
Once is enough. Yeah.
I. Heard you, Reese.
I heard you once is enough. And she said no, I had to say it
twice because you didn't respondthe first time or something like
that. Greenwich.
She said it a million times and I was like touché, you're
absolutely right. I did.
I heard it but I didn't respond to her, which is exactly what

(16:59):
I'm complaining about with her praise thing.
I wonder if. You're the same people, yeah.
It's like a modeling or something.
I did it and she, I mean, for lack of a better term, called me
out on it and I was like, Reese,great job.
He didn't say it rudely. She wasn't mad.
I can like getting worked up about it.
She was very calm. It is so funny.
You're right. Anyway, so like, she, she,
she'll do stuff like that. And I'm like, hell yeah, girl.

(17:22):
Well, that's really it. I mean, I've been busy but she's
spending the stuff for people 5 and under so we can move along.
All right, well, let's get into what we did for ourselves this
week. You go first.
I always go for it. I, I'm, I'm going to be so
honest with you. I have nothing We recorded on
Sunday. I haven't done anything crazy.

(17:42):
No, mine is like nothing. I religiously was getting up at
5:00 in the morning and had a whole routine around it.
And around the same time when Reese's kindergarten curriculum
wrapped up is when I would do ithere and there.
I get up early most days. There have been a lot of days
that I haven't. And then those weigh heavily on
me. Like I've already failed because

(18:02):
I've put it up in my head that this is what I do.
I get up early and then when I don't do it, it's like you
failed and it's like maybe your body needs some extra sleep or
something. But I can't tell myself that in
the moment, right? And so I have done it a lot
lately, but I'll just do nothing.

(18:22):
Like I won't go get myself ready, I won't prep breakfast,
nothing, lounge. And then I'm already working
from, in my mind, a deficit whenthe kids wake up.
And this week I got up and lounge for a little bit and then
got myself ready and then started checking things off my
To Do List, especially things that I usually wait until nap

(18:45):
time because then I'm only, you know, managing one child as
opposed to 2. And that I was like, now I
remember why I did that. So will I do it tomorrow?
But most because we're going to get done at like 1:30 in the
morning. I need to do it because since
Penny started crawling, trying to do my morning pump while
she's crawling has been horriblebecause I have to stop every 5

(19:09):
seconds and like I'd block her from whatever she's trying to
get into. You know what would be better?
If I just baby proofed my freaking house.
It's just I haven't done it yet.Well.
She started crawling over the weekend, right?
And you were gone. Yeah.
Have you ever gotten those like little plastic corner?
I have them, I just don't know what to put them on.
I mean, it's probably too small for your mantle, right?

(19:31):
Not your mantle, your fireplace face.
I put a big cushion thing aroundthe sharp parts of that, but she
tries to pull it off every 5 seconds.
I have a lot of things in the living room like decor things
that I just need to move out of that space.
I just haven't yet. So that's really more So what
I'm trying to body block her from.

(19:51):
We have outlets in the floors bythe couch and I've already moved
stuff on top of those so that you can't get to those.
And I put all the outlet covers on.
I just need to move a bunch of the stuff, some like end tables
that are really lightweight thatcould easily tip that kind of
stuff either way. So yes, I need to wake up early

(20:11):
and try to get my pump done before she wakes up because
trying to corral her has been terrible.
And then she refuses to be in her bouncer anymore.
And when I put her in her activity center thing where she
stands in she. Only lasts for 5 minutes, so
whatever. In your defense, I don't see it
that way. In your defense, getting up
early to do something that you're already probably not very

(20:34):
excited about doing, how is thatthat doesn't work you to find?
I know something I'm excited about.
Yes, I know. I know that's a tall order right
now, yeah, but that's that's key.
And maybe it's lower the bar such as I have done.
I like. I get excited about coffee now.
I don't know if that tells you how.

(20:55):
Small my world. Yeah, like so much so that I
know if I drink it too late intothe afternoon that I'm not going
to be as excited for it the nextday.
So sometimes I'll be like, I'm really tired and I could use a
cup of caffeine at like whatevertime in the afternoon it is.
And I'm like, no, if I do that, that I'm taking away the small
joy that I have the next morning.

(21:16):
It is so funny I I don't know why I set my alarm at like 6:30
to wake up like 1/2 hour before she does.
Lately I'll wake up and roll over and in 3 minutes it takes
me to like up and then she wakesup.
She's in this phase or she wakesup early.

(21:36):
She's been getting up between 6:00 and 6:30 and I'm like,
Penny, you were sleeping till 7:30, what is going on with you?
But I think I just need to go tobed earlier.
That way I can wake up earlier and be a happier person.
It's so much harder to do than than just saying it though
because as a stay at home parenttoo.
Or mom. I don't know.

(21:57):
I've only seen this in the context of being a stay at home
mom, but I've seen people talk about bedtime procrastination
because you get this window of time to your consult to do
whatever you want at night. You don't want that shit to end.
So yeah, there was a time when Reece was like 2, obviously I
had one child and I would get upat 4:00 every morning, every

(22:17):
single morning. That was when I was letting my
business off the ground. So like I had dopamine
opportunities early in the morning.
And yeah, that is since stopped.But at that time, I was going to
bed at 9:00 PM. God I miss that version of my
sleep schedule. Yeah, I just, you're right,
though, I have the hardest time going to bed early because

(22:39):
that's when I can read while Taylor watches TV and I get to
like spend time with him and do something that I like and I'm
not tired yet. So I'd have to physically make
myself go to bed. I just don't want to that's.
The other thing is you're like, I get time with my husband
without interruption. Our time, I get it.

(22:59):
I get it. I mean, yeah, I have.
To pick the lesser of the two evils.
So the thing that I did for myself is I, after like a year,
charged my Kindle. I'm definitely a physical book
person, but I am always sad whenI have to stop reading in bed
because Taylor wants to go to bed.
I don't know why I don't just charge my kindle because then I

(23:22):
can read LA Taylor sleeps. But also I downloaded Hoopla.
Yeah. Thoughts.
I don't know why I couldn't get Libby to download on my kindle,
but I did get Hoopla to downloadand I like it.
I'm already reading something from my library.
I don't. Think that there's like a Libby
app? Yeah, it goes through.
At least with my thing, it goes through Amazon.

(23:44):
So like if on I do it on my phone, pull up Libby and then if
I have a physical or not physical, an ebook that's ready,
then you click it and then it'llsay do you want to read it on
this device or do you want to read it on your Kindle?
And you say your Kindle and thenit goes through Amazon.
So how do you pull up Libby? Like download the Libby app on
your cell phone. OK I tried to download it on my

(24:08):
because mine's not like a Kindle, mine's an Amazon Fire.
OK so it's like a tablet. So I tried to download the Libby
app on my thing and it just wouldn't download.
But I'll try to do it on my phone.
Either way, I did Hoopla and I'mreading The Ghost Writer which
so far so good if. I've even heard of that one.
Is your library that you do yourhoopla through have a limit?

(24:31):
Like a limit for who can borrow?How many books can be borrowed
from patrons that. I don't know.
What time of the day? What time of day did you do you
remember when you like downloaded?
It wasn't. Probably like 3-4 in the
afternoon. Yeah, you probably don't.
Then if I don't get in hoopla bylike 9:00 AM, it's like, sorry,

(24:53):
can't do that because what? Yeah, Well, this is what's.
At least this is what my librarysaid.
And I one thing about me and my librarians, I trust them with my
life. I love these women.
I've said that, yeah. Sent out your communication so
that they were limiting Hoopla downloads to save money.
Because even if you if you download the book or whatever

(25:13):
you're downloading on there and you read one page, it still
charges the library for that download.
They might have just sent that e-mail to me for all I know.
Could have just been a personal communication, I don't know.
But anyways, yeah, they limited it and so it's a real bummer.
Weird. Yeah, I will have to.
There we go. OK, I'll have to look into the
Libby thing. OK so yes I downloaded that and

(25:36):
now I can read at night which I'm happy about.
That's nice. That's.
Good. Taylor's probably very happy
that I'm saving a bunch of money.
From buying physical books. Yeah.
Yeah. Hope Lola Beer.
Great. I've been listening to Spotify
for audiobooks. That's such a dream you said you
ran out of. Does it run out back?
It's back, OK. Does it?
I don't know when it comes back because you know what I thought

(25:58):
it was? Yeah, because mine's not at the
top of the month. OK, gotcha.
OK. I haven't run out yet, but.
What are you listening to right now?
I started listening to the conditions of Will.
Oh, yeah, I was laughing from the first sentence.
Yes, So far so good. Yes, so far so good.
I really have enjoyed it. It made me stop my other one in
which I hate that. I hate when I'm like, OK with

(26:21):
the book that I'm reading and then I start another book,
something maybe I'll like it better.
And then I do. And then I'm like, but I could
have finished that other book and then said that I finished
the book. And now when we do stuff like
this, like talk about our book, now the stakes are higher.
It's not just me. Not yeah.
Oh, sorry. Say that you're not finishing
it. I disclosed that I'm not
finishing it. Also, the two other girls in my

(26:43):
book club, we haven't talked about Remarkably Bright
Creatures yet, but as we're recording this, I got a text and
both of them were like, that wasterrible.
Well. I could have guessed that
they're going to say that because it's not like they
finished it in like 2 days, you know what I mean?
Yeah, obviously that's telling. Why did I like it?
Maybe it's just because I at thetime, everyone was saying how

(27:03):
great it was and so that cloudedmy judgement.
I don't know. Yeah, I don't know.
I still feel positive about it. I'm currently listening to 1
Golden Summer, which I love so far.
I mean, like I'm halfway, almostmore than halfway through it and
it's really. 1 Golden summer is the newer 1 though so you not do
the other one. No, I haven't read the other
ones. Old choice, you have to let me

(27:25):
know I heard that it was OK. I heard they were like
standalones, you know? Yeah, you said that there's just
you heard that there was some crossover with the characters.
Yeah, I did hear that, but yeah,I didn't.
Catch up on those storylines later.
It's a number. Exactly, exactly.
Yeah. But it is really, really good.
I am listening to that. I'm reading The Ghost Writer and

(27:46):
that's it for right now. Actually, I'm very surprised I'm
not reading more than that, but.What about your book club with
with your family? Yes, I we're reading The river
is waiting, but I haven't started it yet.
OK, I'm waiting to set a date for our meeting and then I'll
start it. I got that, Yeah.
That makes sense to me, yeah. I don't want to forget the
details, you know? Yeah.
And we never will, usually go like 2-3 months between meetings

(28:08):
so. Yeah, sure.
I. Don't want to start too early.
Yeah, I get that. Yeah, but that's kind of all the
time. My reading docket right now,
yeah. That's how it's on mine too.
I mean, it looks I'm excited about, but even the book, I
don't know, it's just hard to read.
Yeah, it's just hard to read when you have a lot of children
around and then when you not a lot, when you have any, any

(28:30):
number of children around. Because when they're around, you
get interrupted a lot. And that makes reading a real
pain in the ass. And then you get in the habit of
not reading and going to other sources for dopamine, like your
stupid cell phone, and then you automatically reach for that
thing. It's.
Very hard to get back into it once you take a break.

(28:50):
I read mostly at night or duringher naps, but since you have
restring naps that's gotta be kinda hard.
She's just more, I don't know, mentally present.
You know she wants to. She wants interaction.
Communicate and do things together.
She went through the whole not independent playing to
independent playing, and now she's like, oh, I've done both
and it's way more fun to actually talk to somebody while

(29:12):
I'm doing these things, which I feel the exact same way.
So I get it. How are you feeling?
About the episode. Topic Getting into our episode
Topic completely fine. Good.
Yeah, I don't feel emotional or anything.
Everything I'm talking about is like very objective.
Found the only one that cried during this episode.
I'm gonna be kind of upset. I might cry at the end, but I'm
OK for the beginning. Right.
OK, well then let's start our SOtopic.

(29:33):
Today we are going to be talkingabout navigating an unexpected
diagnosis in your kids. Megan's 2 girls were diagnosed
with Pompeii disease when they were born.
And so Megan is going to walk usthrough the diagnostic journey
that they went through, what treatment would look like.
Yeah, all set. So I'm just going to give a
brief intro, slash my disclaimers and then I will go

(29:57):
through a quick overview of whatPompeii disease is, our
diagnostic experience. Like you had said, I'm gonna
talk about what newborn screening is and then some post
diagnosis, post diagnosis support or tips that I can share
with my five years of knowledge in the rare disease realm.

(30:17):
So first, I do want to say that the reason that I want to talk
about this is because #1 selfishly for my kids, when more
people are aware of rare disease, eventually that
awareness will become resources,which is huge and could be life
saving or quality of life sustaining.
So that's obviously incredibly important #2 equally as

(30:40):
important is when you are a new parent or in my experience, of
course, new mom who has a child that gets a diagnosis, you are
seeking information and connection, community
desperately. So having the ability or podcast
to talk about this stuff that hopefully in the future mom who

(31:02):
is searching, I feel like I'm doing my part and I can help
during this time. I'm not going to talk about
specifics on my children and howthey're doing today.
Honestly, the only reason for that is not because I have a
strong opinion, but I just, I don't know how they're going to
feel when they're adults. You know what I mean?
Like. Yeah, it's their private stuff.

(31:23):
Yeah, it's like it's their health, you know, they might not
care and they might think that it's silly that I chose to never
be public about about the specific details of their
health, but I just want that to be their choice.
But what I'm going to try my best to do is just talk from my
perspective because yeah, it's been yeah, I think that's good
life altering. With that disclaimer said, I do

(31:44):
want to say that if anyone is toever come across this podcast
and would like to talk privatelywith me, I am more than happy to
talk about my experience, give suggestions, listen to ear,
whatever is needed. So I'm going to have a
resources, a link that I add into our Instagram bio link,
that bio dot site slash momsensepod.

(32:04):
There will be a list in there and I will put a way to contact
me in there. So as Molly had said, my
daughter's threesome, Brooke, were diagnosed with Pompeii
disease. For those who aren't aware, we
were not either. By the way, Pompeii disease is a
genetic condition where the bodydoes not produce enough of
something called GAA, which is the enzyme that breaks down

(32:26):
glycogen and there's a spectrum to that.
So some kids, some people, theirbody doesn't produce any GAA and
some kids like mine produces a little bit of it.
So when glycogen does not get broken down and discarded, it
stores in muscles and breaks those muscles down over time.
This could look like a breakdownin muscle, a respiratory heart,

(32:51):
stuff like that. So very serious net.
There's two types, IOPD or infantile onset Pompe disease.
These kids that are diagnosed get diagnosed and start
treatment right away and that treatment is life saving.
Then there's LOPD or late onset Pompe disease, which is what my
daughters have. And when you get this diagnosis,
you're told that your child could start showing symptoms

(33:14):
anywhere between the first year and the 6th decade of life.
So for that time. Huge range.
It's a. Huge range, right And.
Yeah, you're just on edge for their entire life.
Yeah, but they know, right? So you monitor for signs and
symptoms, and when those symptoms start, you can start

(33:34):
treatment. We're incredibly grateful that
there is a treatment for pompierdisease.
It's called ERT enzyme replacement therapy.
So it helps to replace the enzyme that Georgia so that
their bodies can break down glycogen at a more normal rate.
So this is not a cure. It's simply that, a treatment.
And once these people, kids, from my perspective, that's what

(33:57):
I'll probably say kids a lot. Once you start ERT it's lifelong
unless another treatment option is to come out.
You start it, you continue on for the rest of life.
So it's not like you start it, your body starts to produce the
enzyme and then your body like turns on the switch and they're
good to go. No, it's for life.
If you start ERT is there a riskthat you'll develop a tolerance

(34:22):
and it won't work anymore? Yep.
Yeah, they can end up building up antibodies to it.
That is absolutely a possibility.
Is it a common possibility? Like just is that going to
happen to everybody that does ERT?
No, I can't say common or not, but it's certainly possible.
But yeah, so ERT is the treatment option.
Now there are many treatment options that are going through

(34:45):
clinical trials. There's a ton of hope.
So that we're also very gratefulfor ERT is a infusion and I've
seen different estimates on how long it is.
That's why I'm hesitating right now.
But to my knowledge, it is a anywhere from a four to 8 hour
infusion. So for anyone, especially for a
young child, that is a lot. So if the child you know, starts

(35:09):
on ERT right away, those families have a big hurdle to
tackle immediately on top of their child's diagnosis.
I can only imagine how that feels.
And if your child has LOPD, you are monitoring on whatever
cadence your doctors tell you that you should be monitoring,
and you're waiting for that moment to decide that treatment

(35:32):
is necessary. And the reason you do that is
because once muscle starts to get broken down, it cannot be
built back up. When that muscle goes away, it's
gone. So the decision to start
treatment is a big decision. That's an overview of what
Pompeii disease is and. Do you have an incident rate?
Roughly one in 40,000 people. However, it's going to get

(35:54):
diagnosed at a much higher rate because that's beautiful.
It's going to pull us into newborn screening segue because
we're screening for it. Yeah.
So how did we find out that our girls have Pompeii disease?
So there's something called newborn screening.
So newborn screening is one of the many tests that your child
has, well, in the hospital afterbirth, a small sample of bloods

(36:18):
taken from the newborn's heel. And then that blood is tested
for a range of different diseases.
Every state has a different listof diseases that they're testing
for at the time that Reese was born.
So back in 2020, only think 23 states tested for Pompe disease.

(36:43):
We were fortunate because Oregonwas one of those states.
Michigan also was. So if we were back in Michigan
at the time, she would have beenflagged.
They will be diagnosed at a higher rate moving forward.
I'm sure it's heavy heavily due to the advocacy.
I mean, you guys are doing something.
Yeah, there are some moms in this Pompeii disease world that

(37:03):
are literal heroes. There's so many who work day and
night who have nonprofit organizations that are helping
other families that are working to get Pompeii disease on the
newborn screening and states that their children aren't even
in. That's awesome.
There's a lot of heroes. Yeah.
It's incredible. So, yeah, that's what newborn

(37:24):
screening is. That's how we found out with
Reese and Brooke. With Brooke, we knew that there
was a possibility it was coming.With Reese, we were absolutely
blindsided. But it was also a small
possibility with Brooke. It was 25%, right?
It was low. Yeah.
So Olton and I are both carriersof Pompeii disease that we did

(37:44):
not know we were carriers. Because of that, there was a 25%
chance that our children could have Pompei disease.
There is a 25% chance that a child of ours could not be
impacted whatsoever, meaning they don't have the disease,
they are not a carrier and there's a 50% chance that they
would be carriers like us. So with Reese, we did not know
about this whatsoever. With Brooke, we made the

(38:06):
decision to take the chance and we would not change our decision
ever. If we could go back, of course
we wouldn't change it. It is incredibly hard to know
that she is going to have hardships and we were aware.
So we're we're sad for what she is going to have to go through.
We would never change the decision.
And I think that it says something for the rarity that

(38:26):
both of you guys are carriers, which means people in your
family were carriers and not oneperson in your family tree has
this. So the fact that you have two
kids that have it is wild. Yeah.
Like I said a million times, we've never make a different
decision. We are so grateful that we

(38:47):
decided to have another child. We are so grateful that we
decided to have a child when we did.
And we are so grateful that thatchild ended up being Brooke.
She is next to Reese, the biggest blessing that either of
us could ever ask for. Just sucks that she's going to
have to go down this road in a crazy.
I'm trying to put a positive spin on it sort of way a piece
of me thinks they have each other, they'll they'll be able

(39:09):
to relate to one another and that that's a good thing in my
mind. OK, so I'm going to briefly go
over our problem, our timeline. Again, everybody looks
different, the spectrum disease,but I know I was looking for
this information. So when Reece was diagnosed, we
lived in Oregon and. Yeah, that's all I'll say.
So newborn screening in Oregon happened in April of 2020, and

(39:30):
we were notified by our pediatrician just over one
month. We got a phone call from our
pediatrician who said that our child was flagged on newborn
screening for Pompey disease. She had low GAA.
It's not a diagnosis at that time.
And so you have to go through the diagnostic process from
there. And in both experiences in
Oregon and Michigan, they move you quickly.

(39:51):
That's good. Yeah.
It was hell on earth to get a phone call from your
pediatrician when you're not expecting it and your newborns,
you know, taking a nap next to you.
It's terrifying. Hell yeah.
It's. Yeah, it's hell.
Shit. I told you I was going to be

(40:11):
fine. I really thought I was going to
be. That's where we're reflecting
I'm. Thinking about how I felt in
that moment. I bet the panic that ensues I
can only imagine. I I have a friend who got a
call. Her child has LOPD as well.
She got the phone call and her pediatrician said do not Google

(40:33):
it. She does admit that she lasted
about 40 minutes before she looked it up and when you look
it up it tells you the worst of the worst scenario.
Anyways, so she was flagged. Fellow GAA.
They asked us to go in for lab work immediately.
We did that. And then how did they?
Do lab work in a baby? For Reece right here, OK.

(40:59):
So like the same as they do for everybody else?
Yeah, Colton told me. I should point this out.
We went to the children's unit at OHSU, Oregon Health and
Science University, and then we,you know, got a call from them
to set up genetic counselling toconfirm diagnosis, which for us,

(41:22):
we had to do blood work as well to figure out what mutations we
both had. And that's how they confirm.
And then she officially got her diagnosis.
And then here in Michigan, we got a call 8 days after she was
born. I don't actually remember who
called me here. And then we had to go in and get

(41:42):
lab work. I think we began that process
that same day. We made the mistake here of just
going to a general lab. They did a heel prick, Colton
said. It was incredibly traumatic, he
said. Minutes of them trying to get
enough blood in the smile. And why would they not have
taken real blood if they were trying to get a lab done?
I don't know. And then they weren't able to

(42:04):
get the results. And then she had to be retested.
That sucked. And so that at that point we
were like, OK, we're going to goto the Children's Hospital,
which we should have done from the beginning.
We didn't have to do genetic testing in our mutations.
And then she was diagnosed as well.
And Michigan was so fast for youguys.
Michigan was very fast. However, Michigan was very
disorganized. It was like when our

(42:26):
pediatrician in Oregon called us.
He was like, I've already calledOHSU and you're going to get a
phone call from their genetics team soon.
And here we were getting phone calls and different information
from different groups and it wasvery overwhelming.
And I did note this, and I want to say it out loud, it is not
from lack of care, it's just simply from lack of like
procedural protocol. It is a rare disease.

(42:47):
They don't deal with this every day.
You are dealing with something that's life altering.
It's a huge deal. It's literally the only thing
going on in your life at that moment.
And you're full of grace and you're, I don't know how to
describe it, but you're being solike, it's not their fault.
It's a rare disease, but like this is turning your life upside
down and people don't know how to help you and that's horrible.

(43:10):
Yeah, the situation I do feel ishorrible.
If I felt that the onus was on our pediatrician, I would have
gone to a new pediatrician in a heartbeat.
Like they would have never heardfrom me again.
Not the case. I love our pediatrician.
She's good. Outstanding.
So yeah, that was what our experiences were with newborn
screening. I would like to know what all
they test for on the newborn screening.

(43:31):
I'm sure they told me, but I can't.
I can't remember. They just told me it's for
genetic conditions. Yes.
When they Yeah. That's what they tell you.
I don't think they list everything out.
They just say genetic conditions.
But I was like, cool, good to know.
Could never be us. Yep.
It's us. So with all the heavy stuff out
of the way, I do have a list of post diagnosis support and tips.

(43:54):
OK so I already alluded to this but 110% search on Google with
caution. It has evolved and I know people
I personally have even helped this initiative who are working
truly day and night to better the information that is out
there for Pompei disease. And it it has certainly

(44:15):
improved. However, it's a rare disease.
And so, you know, when you're competing against these large
whatever government organizations, all these
different things, outdated information commonly is going to
be pulled up first because thoseweb pages have been on the
Internet forever. And so they have more or pull

(44:36):
with Google, they've they've built up more report them
through search engine optimization.
So smaller website that maybe has the most up to date accurate
information might be on page five.
Well, something that was true in2019 is pulling up on page ones.
Yeah, Google search with cautionor be very mindful about your

(44:58):
wording because, yeah, you couldget some very scary information
that might not be applicable to you.
And you're already going througha very hard time.
And that's the last thing that you need #2 is fine community.
I highly recommend looking through Facebook groups for
Pompeii disease specifically. There is a mom Pompeii disease

(45:19):
group and it is, it's been a lifeline.
Absolutely, absolutely incredible.
There's I think closer to 300 moms in there.
Every post is answered and thereare so many people that get
added in who just got a diagnosis and this moms will go
in and they will post pictures of their children today to say
like, we know. We know what you've been told.

(45:41):
We know what you're going through right now.
We know what you've probably seen on Google.
And here's a picture of my 5 year old playing soccer.
And it is not like doesn't like doesn't heal you in that moment,
but it helps. Gives you hope for sure, and
hope's a thing that you need, right?
Like if you're a new mom thinking that your baby's not

(46:03):
going to be what you've thought,right?
They might have, they might not have the life that you want them
to have. Then you hear from moms in that
experience. But later on, got to just, it's
got to do everything for that person.
Yeah. It's super helpful.
So yeah, Facebook groups search the rare disease that your child

(46:27):
has. And like I said, you can do
moms, dads, and there's general groups as well.
You can also search for blogs orTik Toks of people who, if you
want to do anyone who has a raredisease or a parent of someone
with rare disease, you could search on those two.
Medium. You can search for conferences
in our case, and I will include this in my links list.

(46:50):
Duke University is a key player and Pompey disease research, and
so they put on conferences each year.
If you were to get involved in something like that, you will
surely meet a ton of people and find community that way.
And then same thing for meetups with Pompey disease.
There are meetups. There's even a pediatric family

(47:13):
meet up that organization calledGrants Giants puts on, and we're
going to that this year. Cool, where is it?
In Indiana, don't ask me where in Indiana.
Cannot remember. Yeah, it'll be really cool
because Reese is at the age certainly where she understands.
And so, yeah, want her to be able to meet people who are

(47:34):
going through similar things as her and make connections.
And Colton and I love it and need it, and she might as well.
And so we're going to help facilitate that.
Same goes for practically her level.
Of awareness is a little lower, yeah, yeah.
Yeah, so incredible. And then the other thing, this
is something my husband does is set up Google Alert.

(47:55):
So you can set up a Google alertfor studies related to your
child's rare disease, clinical trials or just general updates.
And you will get an e-mail in your inbox once the web is
scanned and Google triggers thate-mail for you.
So that's been really helpful. And this is something that came
from Colton as well. And I wholeheartedly agree.

(48:18):
Don't be afraid to change your specialist team if if that's the
right move for your family. We have done that and we are so
grateful that we did. Yeah.
So we had a specialist out in Oregon and she was outstanding.
The team around her was outstanding.

(48:39):
And then we moved to Michigan and we came to another team that
was just not the right fit. And after getting Brooke's
diagnosis, we decided to make the change to come to a team
that was local to us. And that was an incredible
decision. And then the last thing that I
just have is that the early daysare hell on earth.

(49:01):
They're the most difficult days and it does get better and what
helps is to some degree time, but it's what happens in that
time. So in that time you gain more
knowledge and you find more support.
And when you have those two things, it's huge because you
know when you get knows like this, everybody does their best

(49:22):
to try to support you and comfort you.
And some of those ways are helpful and some of those ways
are not, despite good intention.What were the helpful and
unhelpful things that people didwhen they're trying to support
you? I will tell you that I do have a
good one. A +1 for you.
This is future Megan Wall editing.

(49:43):
I had mentioned that there was something that Molly had done
that was on my supportive list, and then I completely forgot to
say what that was. We recently had an appointment
that there was a lot of stress around and Molly knew that She
had asked me when that appointment was, what time it
was, and then the day of she texted me and just said text me

(50:04):
when you're ready. The reason I thought that was so
helpful was because one, she remembered, which isn't
expected, but certainly means a lot, and two, it showed that she
cared and three, there was no pressure associated with it.
It's it's like it wasn't anotheritem on my To Do List like give
the dogs Bravecto, clean the floors, text Molly back.

(50:24):
I don't say this to make everybody ever think their
communication, but that was incredibly helpful and that's
why. OK, thank you so much.
Let's resume. So what's not helpful is
especially with LOPD late on setwhen your child is virtually
asymptomatic apart from blood work and you say?
Like, aren't you grateful? They look, they look great.

(50:47):
It looks like they're doing fantastic.
Why all the monitoring? Everything looks fine.
We won't notice when something isn't fine, but muscle damage is
already happening. You have to catch it as early as
you can. Yeah.
The reason that feels not helpful is because one, it feels
like you think like we're staying on top of this and it's

(51:09):
unnecessary. And it's like, trust me, anyone
would opt out of this. No one wants to put their child
through this. No one wants to do this
themselves. Sounds it sounds like you guys
are purposefully putting your kids through this.
That's what that comment sounds like.
Yeah, yeah, Everything looks fine.
The things that are helpful, I Ihave a sister-in-law who I have

(51:31):
a sister-in-law. Yeah.
She's just the picture perfect example in my opinion.
I'm sure everyone feels different about this, of what
support and care looks like, like in in this case.
And it's not that you have to dothese things to be supportive.
Don't put pressure on yourself to, to try to check all these
boxes. It's just consistency matters.

(51:54):
Consistency sends a message. You know what I mean?
People have busy lives and stuff, but so inconsistency,
it's like one thing, you can like look at that maybe
objectively or maybe you can't in your situation, I don't know.
But I can look at it pretty objectively.
It's like people have, you know,things going on.
But if somebody is consistent, like my sister-in-law, she asks

(52:15):
about a date for something. When's this next thing coming
up? And she texts me the day before,
the day of whatever, regardless of what's going on in her life.
And like, she's had a lot going on in her life as of late.
She never forgets. I've literally asked before, do
you put these things in your calendar?
How do you remember? And she's like, you know, there

(52:35):
might be times in the future where I, I don't remember, but
she's like, as of now, it sticksin my brain and she follows up
so nice every time. Yeah, so nice.
The other thing that really helps this is an in general
thing. It just so happens to be
something that my sister-in-law does is she asks questions she
wants. I've said to her a million times

(52:58):
like how grateful I am for. I'm going to talk to Colton
about it. I don't cry or anything.
I don't know why. OK, Something else that's really
helpful that my sister-in-law also does is that she asks
questions and it just shows thatshe wants to understand.
I also feel like she cares from the perspective of like how her

(53:24):
nieces are doing and I think that she really cares about mine
and Colton's experience and that's what I've picked up on
from the consistency of her checking in and from her asking
questions. I've also stumbled upon this
recently. There is a blog that I follow

(53:45):
because a friend of mine is the one who runs it.
Her daughter has like onset Pompe disease and when you go to
a Facebook page, unless they have deliberately turned this
off, you can see who follows that page and she follows groups
too. It's like, I don't know.
She cares. She is.
She's just invested. She cares.
Yeah. That's so sweet.

(54:06):
Yep. Yeah, I feel so unfortunate cuz
it really helps. Yeah, this is very annoying.
I really did not. I didn't, yeah.
I really do not think that's going to be emotional about.
This. See, I foresaw this and I was
very surprised when you were like, I'm fine.
I was like, are you though? Yeah, I thought I was OK.
So yeah, those are the ways thatI think are helpful and the ways

(54:30):
that are not devoted bluntly all.
Right. If any other things you wanna
add to that, I thought that was good.
You definitely like reviewed everything in a very digestible
way. That I I think so it's hard I.
Mean I understood. I know.
Yeah. OK, good.
All right, I'm gonna close up this topic with us.

(54:51):
A poem that another Pompeii mom had shared with me.
Maybe I won't do this. No, I'm gonna do it.
This is so you want. Me to read it.
But yeah, would you? Yeah, yeah.
OK. All right, I'm not going to say
it with the same inflection thatyou would, but I'll try.
OK. So the poem is called Welcome to

(55:12):
Holland by Emily Pearl Kingsley.When you're going to have a
baby, it's like you're planning a vacation to Italy.
You're all excited. You get a whole bunch of
guidebooks. You learn a few phrases so you
can get around, and then it comes time to pack your bags and
head to the airport. Only when you land, the
stewardess says, welcome to Holland.
You look at one another in disbelief and shock, saying,

(55:35):
Holland, what are you talking about?
I signed up for Italy. But they explain that there's
been a change of plan, that you've landed in Holland and
there you must stay. But I don't know anything about
Holland. You say, I don't want to stay,
but stay you do. You go out and buy some new
guide books, you learn some new phrases, and you meet people you
never knew existed. The important thing is that you

(55:58):
are not in a bad place filled with despair.
You're simply in a different place than you had planned.
It's slower paced than Italy, less flashy than Italy.
But after you've been there a little while and you have a
chance to catch your breath, youbegin to discover that Holland
has windmills, Holland has tulips, Holland has Rembrandts.

(56:19):
But everyone else, you know, is busy coming and going from
Italy. They're all bragging about what
a great time they had there. And for the rest of your life,
you'll say, yes, that's what I had planned.
The pain of that will never go away.
You have to accept that pain because the loss of that dream,
the loss of that plan is a very,very significant loss.

(56:41):
But if you spend your life mourning the fact that you
didn't get to go to Italy, you will never be free to enjoy the
very special and very lovely things about Holland Is Good.
Isn't that so good? I think that you did better than
the TikTok audio, dare I say it?That was good.
I think that it perfectly explains the grief and the loss

(57:04):
that a parent feels when their expectations aren't met.
And I mean, I think that's what it is.
That's grief that someone has togo through.
And it's, it's not like you've lost your baby.
You've just have to change directions.
You know, you have to like change your expectations, which
is hard. But I think that was great.

(57:25):
Yeah, but I think so too. I think that's great for anyone
who has a child with the diagnosis that they didn't
expect, which is like every diagnosis, I suppose.
But yeah, I think so too. Yeah.
The other thing that I'll. I used to everything that I
could say about it, but the other thing that I'll add to is
like, you know, we've re evaluated our entire lives in

(57:49):
ways that we would have not otherwise done if our girls
didn't have their diagnosis. Like there are so many decisions
that we would have made that just follow.
So I'm looking at the monitor. Just like I said, my husband is
traveling. We made decisions that we
otherwise would not have even batted A deny about, all with
the hope of making our children's lives as full and
bright as they can possibly be and ours to capitalize time with

(58:13):
them. And there are, you know, there
are maybe not the most positive of ways, but this does give us
that because we would not have otherwise made those take a look
at things. So there are positives that come
from it. But yeah, there is a huge
process of grief, A grieve life as you once saw it for them and
for yourselves. And yeah, I feel like this poem

(58:37):
perfectly depicts those early days because yeah, it's tough.
It's super tough. So I have a question, How does
this affect them having kids later?
Do they have a higher percent chance of having kids that have
it? I'm guessing that it's recessive
if you guys have a 25% chance ofhaving a baby.

(58:57):
So then do they have two dominant alleles?
If you have somebody with Pompeii disease and a carrier
5050 affected or unaffected. Yeah, Yeah.
It seems like that's how it would be.
Yeah. Cuz if they're not carriers,
yeah. But that's, yeah, you did great.

(59:19):
It was. I'm impressed cuz it's a lot to
talk about and I would have put this off for a very long time.
OK, so I had said this at the beginning, but just as a
reminder, I'm going to create a document with links to different
resources and I will put it in our.

(59:39):
It's not a link tree, it's called Biosite.
It's a link in our Instagram bio.
I'll have like a little button there that will have, if you
click it, it'll take you to a page with all the links on it.
Most of the ones that I'll have on there are going to be geared
toward Pompe disease because it's, you know, my frame of
reference. I'll have some for rare disease
in general, and then I'll have some for newborn screening.

(01:00:01):
Something that I became really aware of since having children
is that instead of saying for, Ishouldn't point this out because
now everyone's going to notice. Instead of saying for, I say fur
and I despise it, but I don't change it.
Yeah, whatever. And I'll, I'll also put it in
our YouTube description. So I'll leave it there for some

(01:00:21):
time because I'll leave it therefor some time because because
the nature of this being rare, Idon't assume that this is going
to be our most popular episode ever out of the gate.
But what my hope is is that whenfamilies, moms, whoever are
starting their searches to find info and community that they can
reference back to this. So I'll just drop it down to the

(01:00:44):
the bottom and yeah, I'll list it something that is draws
attention. But yeah, all the resources that
I have I will list for everyone to go reference but.
Awesome. All right, you want to wrap this
up? Help us build a culture with
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(01:01:05):
your life who could use a littleextra girl time.
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(01:01:26):
Please rate and follow our show on your podcast platform of that
helps us out a great deal. We hope you guys have a great
day and don't forget to quarter your kids grapes.
Done.