June 6, 2023 • 50 mins
Meet Zachary, Amelia, and Luke from Foley, Alabama. These three incredible kids are living with unyielding spirit despite the challenges posed by a rare genetic disease called mucopolysaccharidosis type I (MPS 1). Together, this family weaves a tapestry of love and resilience that transcends the boundaries of hardship and shines a light of hope for others.
Today we hear from Mich and Brooke, the parents of these incredible kids, who will guide us through their lives.
Throughout the month of June, we’ll be shouting love for the Thomas family and raising awareness for MPS1. Visit www.goshout.love to read about their rare medical journey.
Today we hear from Mich and Brooke, the parents of these incredible kids, who will guide us through their lives.
Throughout the month of June, we’ll be shouting love for the Thomas family and raising awareness for MPS1. Visit www.goshout.love to read about their rare medical journey.
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
We are with Brooke and Mitch andintroducing They are introducing us to their three
amazing kids. So let's start there. Mom, Can you just introduce us
to your three kids, and let'sgo with one descriptive word for each,
and you're going to be next dadwith a follow up questions. So it
(00:22):
may or may not be the sameone. So Zachary is fourteen and he
is very steadfast a good word.Yeah. Amelia is eleven and a half
and she would very much be madif I forgot the half. And she
(00:43):
is our creative child. And thenLuke is seven and he is just full
of life. All right, Dad. One thing that you've learned from each
of your kids? Uh, wasZach it was patience. With Amelia it
(01:03):
was patience, And with Luke itwas patience a triple dose. Yeah,
No, Zach spoiled us. Yeah, Zach really did spoil us. Um,
I think was Zach. I've learnedto give a little leash with how
(01:25):
much she's capable of doing. Um, I don't necessarily have to be there
to hold his hand through every partof it. Um. With Amelia,
Yeah, she's definitely taught me patience. Um No, she's great. Um.
(01:49):
She's definitely taught me how to choosemy battles wisely, that's a that's
a girl, that's a yeah,yeah yeah. And with Luke, Luke
has kept me young for sure.Luke has kept me energetic and trying to
(02:12):
keep up with him because he's alot. I want to answer that one.
Amelia has definitely taught us to findthe beauty and things to stop and
to look for it. And thenLuke is definitely taught me to let go
(02:34):
and just have fun. Today weare in Fully, Alabama, engaging in
a conversation that really packs a punchof openness and authenticity and a few laughs
along the way. My name isSeth Carnell and this is the Ghost Shout
Love Podcast. This episode surrounds afamily who truly treads through the weeds of
(02:59):
a medical erney together and does sowith faith, hope, and love.
We are talking to Mitch and Brooke, the parents of three kids, Zachary
who is fourteen years old, Ameliawho is eleven, and Luke who is
seven, all of which who sharethe same diagnosis of MPs one. Now.
MPs one, or Hurler syndrome,is a rare genetic disorder that occurs
(03:23):
in approximately one in one hundred thousandnewborns. There is so much more about
this diagnosis that Mitch and Brook willtell you about, including the discovery of
it, the odds of all threeof their kids having it, and what
it means for their children and otherchildren with this diagnosis. Not gonna lie.
There are some valuable insights that wewouldn't have unless we have conversations like
(03:45):
this one, including the importance ofnewborn screening. Now, what shouldn't be
lost in all of this, however, is how these parents describe their kids
personalities and relationships with one another.It is extremely endearing and I hope you
enjoy hearing about it just as muchas we enjoyed recording it. Not only
will you get to hear from theparents about these kids, but later in
(04:08):
this month, we will have anadditional bonus episode where you will get to
hear from the children themselves. Thisis a privilege we don't always get,
and we want you to have thechance to hear from these incredible children firsthand.
In this conversation with Mitchen Brook isJosh Beach, our executive director of
Gosh Out Love, and Jessica Santo, our family relations director and talented photographer.
(04:31):
Please take a second to rate andreview this podcast on whatever platform you're
listening on, and please share witha friend. More than anything, we
want these stories to be heard andshared. So how do you guys face
(04:53):
having three children on a medical journey? What does that look like for you
guys each day as parents to getup and to do that well, considering
we do not have any children withoutso that's pretty normal for us. You
know, we've never all three ofthem have the only ones we have.
(05:16):
It is the only way we know. A better question than would be what
would you say to parents who areat the starting gate of it? So,
happiness is a choice a lot oftimes, you know, we could
choose to give in to the fearor the sadness, or we could choose
(05:41):
to find ways to get through itand to make our lives, you know,
the best that they make their lives, the best that we can.
And you know, not to soundtrite when I say that at all,
because sometimes that choice is getting thehelp that you need as a parent,
you know, as a as arare parent. Um, but yeah,
(06:03):
it's it's just some days I wantto just lay in the bed, and
cry, you know when my myfriends kids are making middle school cheerleader or
you know, on playing basketball andall these things and that you know,
my kids can't do. But Ican choose to see the goodness that's come
(06:25):
out of the life that we dolead, Like I get to meet you
guys, um or yeah, allthe amazing people that we've met, friends
that we have that we you know, we would have no idea that this
world even existed. All the goodnessit's there. You just have to look
for it sometimes. Yeah, youcan't fold the cards dealt it's you've got
(06:49):
to play them and make the bestout of it. That's a good analogy
that it's thanks. Yeah, andyou know you run, You run your
own race, and that's what ourfamily is doing. And we're in our
(07:11):
lane and we go as fast oras slow as we need to go.
But you know, core values oflife can be taught, and that's kindness
and love. And if our kidscan show that to others, then I
think that we've successfully done our jobas parents, regardless of any other abilities
(07:39):
or disabilities. Ye, we dependa lot on our faith to get us
through too. Yes, And howeverthat may look for different people. You
know, we always encourage people tofind that within them because and I you
know, I tell newly diagnosed parentsthey're getting ready to go to transplant,
(08:03):
like, better find your God,whichever one, because there's going to be
some nights that it's just you andthem there in the hospital room. How
did you And if this is toopersonal, please say so, and we
don't have we'll cut it. Buthow has there been times where you've had
(08:24):
to wrestle in your faith about agood God in a really difficult season?
And I guess the simplest way thatwe all wrestle with that is good things
or bad things happening to good peopleis the simplest way that most people probably
think about that. But when itis when you are in the room and
(08:45):
it's just you and your thoughts andtaking that to God, Like, what
did that look like for you?I mean, absolutely we wrestle with that.
We I mean often for me,it's been knowing in my faith and
my belief that you can't have goodnessand wholeness and truth without suffering, right,
(09:15):
you can't have a rainbow without thethunderstorm, and so balancing that and
how and sometimes I don't have ananswer. You know, sometimes I just
have to I have to have faiththat that there is a purpose in my
(09:35):
brain. May not understand it,it may never understand it here, but
it gets me through the day believingthat it is for a reason even if
I can't see it. And youknow, so my memal as a very
(09:56):
praying woman. She always says thatif everyone threw all their troubles into one
big fire, you would run andgrab your own right back out right.
So we have this hand that we'redealt with our family, with our kids,
but we also don't have some ofthe problems that other people, you
(10:18):
know, may have, And soit's just recognizing the good for what it
is and persevering through the hard times. Dad, how are you doing with
all of them? The end gamefor my life for the kids is it's
(10:43):
not in my hands. And aslong as I can teach them that there
is goodness in the world despite thebad and strive to see it myself,
I think when that time comes,it's it's again out of my hands and
(11:07):
hopefully place in the right hands.So day by day, I guess you
could say, you know, lookfor the goodness out of every day as
best you can I know some daysare tough, Know that that's suffering,
whether it be your family, ourfamily, the child that you love,
(11:31):
or family members going through the samething, friends going through the same thing,
their struggles are there to be lightto other things? Yeah? Yeah,
I think that's an important thing thatwe try to teach the kids and
try to remember ourselves, is like, how can we how can we help
(11:56):
others around us? How can webe a light for other people? You
ought to see Zach, can youtell them where? At events? He's
never still, He's never sitting downand just going to eat his plate of
you know whatever and play with thekids. He's grabbing a trash bag and
(12:16):
talking to the you know, theadult volunteers and making sure that tables campaign
well. So he shaking hands.His nickname was the Governor of Ronald McDonald's
house because he was so young,he was like eight, and he would
he knew because you all come downfor dinner at night together and a lot
(12:41):
of times the child's not there,you know, they're impatient and so but
he knew, and he would walkup to you and he'd say, you
know, hi, how is andhe would say the child's name, how
are they doing today, did theysee the doctor today? Or they still
sick? And he would shake theirhand and you know, he's like that.
Any knew families that would come tothe house, Um, the staff
would go and find Zach and havethem, have him escort them and showed
(13:05):
them around and um. So weyou know, social media gets a bad
rap a lot, but when no, no, no, I meant no,
I'm meeting that families when we sitdown and record these podcasts, have
a lot of good things to sayabout something. Yeah, well it's such
(13:26):
a it's such so helpful. Sowhen Zach was when Zach was first initially
not like unofficially diagnosed, our pediatriciansaid, I think he has MPs one.
Do not go home and google it? Okay, So the first thing
you do is go home and googleit, right, And it's awful.
It's like outdated information. It's terrible. So one of our goals in mine,
(13:54):
you know, especially, was howcan I be a force for good
for these newly diagnosed parents. Howcan how can our story help someone else?
So can we show like, Okay, yes you have this terrible diagnosis,
but this is all the good thatcan come from it. So like
that's why I put my kids pictureson social media, and I you know,
try to share all the good thingsthat happen, not to diminish the
(14:18):
hard stuff that they go through,but just to show other families like,
yeah, your life is going tolook a little different, but it can
still be really great. What Joshand I learned on the way down here,
we were doing a little research thateach of your children had a one
in four chance of having MPs one, and all three of your children have
(14:39):
that. So you were explaining someexplain that one more time. The this
little beautiful what is this called apunnet punnets square. Yeah, so just
like it's very interesting your high schoolbiology class, if you know, if
one of the parents has blue eyes, and then you're trying to figure out
(15:01):
which one is, but brown eyesare dominant, So our kids would have
twenty five percent chance of not havingthe disease, a twenty five percent chance
of having the disease, or afifty percent chance of being a carrier for
the disease, which is what Mitcheand I are both carriers. So we
(15:22):
actually have the same mutation and it'sa very common one. You know,
you wear your you know, yourmutation of your gene in our world like
your shoe size, basically like,oh, yeah, what mutation are you?
But there are actually only two otherfamilies in the continental US that have
(15:43):
three living children with our disease.So when you say it's a common mutation,
what do you mean by that?So there's I'm not super sciency,
but there's just different ways that thatcopy of that gene can be mutator.
(16:03):
Which gene it is that's mutated andI hate that word mutated, right,
but I don't want to say defectiveeither, but um so it can be
different genes and different copies that wouldcause the disease to happen. So we
we are the first in our families. And that's typically because a lot of
(16:26):
times these are diseases that wouldn't havesurvived past infancy even you know, thirty
thirty five years ago, but withthe advancement of nick U's and neonatology care
that that now they've lived longer,so you know, we might have.
And they just chalked it up to, you know, the baby died.
(16:47):
They didn't really know a cause.But then so we found out Mitch got
a call one day nine years ago. Yeah, I got a call from
a distant cousin of mine that I'vemet a few times at family reunions,
but and I knew she was andshe called me and said, hey,
(17:08):
um, this is your cousin andum, my son just got diagnosed with
Hurler syndrome. And so we immediatelyassumed that are connecting relatives the O'Dwyer line
of my grandmother. So their grandmotherswere sisters, this cousin and Mitch's grandmother.
(17:30):
Yeah, and so we just said, well, that's that's got to
be where the line that it comesfrom, at least for you know,
my my my family, and um, she come to find out, does
not have the same mutation. Soit's not through that side of the family,
(17:52):
this family relative. So it wasnot Hurler syndrome. It is a
different mutation. Differ mutation should tocause the disease. Yeah, So what
does that mean exactly? I'm alittle confused. So they have it,
but it's a different mutation yep.Yeah. So, UM, I'm going
(18:12):
to vaguely say, because I don'tknow that, I'm assuming whatever mutation it
is cause the enzyme to or causethe cause the body to not produce the
enzyme exactly, so, and that'sterrible, Like you can cut all this
part out because I should know howmany different mutations there are for art disease,
(18:34):
But for most of these diseases,there are multiple mutations that could cause
the inheritance of it. Like,I mean, that's that's really common.
But on the practical side, basicallythat means there's at least two versions in
your family line, right, welldo no, Yeah, it actually means
that they they didn't inherit it fromtheir common ancestor, right, so she
(19:00):
probably inherited it from her mother's side, and he probably inherited it from his
mother's side versus their fathers shared side. Fascinating. It's like a she did
the math because she's way smarter thanme, but it's like a one in
five billion champ of having a distantrelative with the same disease and did not
even the same mutation. Yeah,so she and her husband have the same
(19:22):
mutation. Mitch and I have thesame mutation. It's it's winning the type
of lottery that you don't sign upto play. Yeah, right, for
sure. But I mean, nowwe have this awesome family in our lives,
Like she and I just went ona girl's trip together a couple of
weekends ago. So now you knowthey live in Delaware, we would have
(19:44):
probably never met them. And howold is their child? Nine nine,
Stephanie, I really hope he's northas I can't remember, nine ish,
somewhere in the nine range, youngerthan Amelia. Is he on the kind
of the same path from the journeysYou're so different, so our kids are.
(20:06):
We're very, very fortunate. Ourkids are much less affected by the
disease than most children. Our primaryissues are orthopedic. We have some mild
developmental delays, nothing as severe asmost of the kid's face. Zach has
(20:30):
a little bit of cardiac involvement,but we're still like in a watch and
see, but he will have tohave some intervention with that in the future.
But you know, a lot ofkids are severely cognitively delayed. Many
of our kids also have a dualnot many of the kids with our disease
(20:52):
have a dual diagnosis of autism,and so our kids have none of that.
And the hope that with the youknow, things like with the newborn
screening that we're doing, the hopeis to earlier intervention will prevent some of
these severities taking place. How hardis it to get a newborn screening past?
(21:17):
So when when we say newborn screening, we're talking about like the heel
state carts when the baby's born.So most of the people just think of
it as a PKU test not actuallystarted in the sixties with PKU, and
it is I'll just bring out allmy talking points. It is the most
successful public health program in the country. Right. So the way it works
(21:41):
is the federal government comes out witha recommended screening panel. It is a
year's long process to have the diseaseadded to the federal guidelines, I mean,
and oftentimes advocacy groups have to apply, like several times because you have
to prove, you know, withoutany kind of doubt that it is more
(22:06):
cost effective to screen every baby bornat birth than to wait until these diagnosises
go untreated years down. And therehas to be you know, an easy
test that the public health labs cando to screen the babies, and there
has to be some sort of treatment. Right, They're not going to screen
(22:29):
all these babies just so you knowyou have the disease. So the Department
of Health and Human Services puts outthis guideline and then it's up to the
states essentially to primarily fund and coordinateoperate their own newborn screening programs. And
(22:53):
there's a big push in the raredisease world. It's it's been a you
know, it's been a big dealfor the last couple of years because we've
had some stuff going on at thefederal level, and of course COVID put
a damper on a lot of things. But what we're finding, especially in
our state, is that this thepoorer states, it's taking you know,
(23:15):
upwards five to eight years after thesediseases are added to the federal panel for
it to actually be enforced on thestate level. So our disease was added
to the federal guidelines in twenty sixteenand Alabama is still not screening for it.
Over we're getting close to forty statesnow are at or near or plan
(23:40):
to be at parody with the federalguidelines, you know, within the next
few years. So we're getting there. So is that a what it's added,
Is that a requirement that states comply? No, it's just a recommendation,
just a recommendation. Some might jumpon it, and yeah, and
(24:02):
you I mean, you can guessthe states that do right, So the
coasts obviously they have colors that gowith them. Yep. Ye, Minnesota
is always at the forefront of thingslike that. So we're lucky that we
receive all of our care. Sowe have a lot of connections in Minnesota.
So that's helped us some here andthen even now, so like Mississippi,
(24:23):
Tennessee, Georgia and Florida and Texasare all on their way and so
we're just trying hoping for some peerpressure. Yeah, we're trying to keep
Alabama from being least ye and whatdoes that look like for your involvement?
And Zachary, so he's involved.Yeah, so Zach Zach loves to share
(24:45):
his story with our legislators. Um, he does. He's done that for
many years at the federal and thestate level. Um. He and our
US representative on a first name basiswith each other. But yeah, so
we are a part of an organization, a rare disease organization in the state.
(25:07):
And we I mean, we essentiallyhave drafted state legislation. We have
a bill. Zachary doesn't know ityet, but the bill's actually going to
be named after him. So wehave that draft legislation and now we're working
with all of the different stakeholders withinthe state to get everyone's agreement on our
bills so that we can put itup for a vote in the legislature.
(25:32):
Yeah, but we want to do, you know, the hard work on
the back end to make sure thatyou know the insurance companies and medicaid and
that there's a path to implement it. Yeah. Yeah, So it would
be you know, creating a timelineso that these diseases aren't going years without
and we're missing now fifty thousand babies. There are three four seven kids in
(25:56):
Alabama that we know of with ourdisease, which is kind of surprising,
and that's a lot for as smallpopulation as we have. But we always
say that all of this advocacy inNewborn's Greening work that we do, that's
for the friends we haven't met yet, right, Like, none of this
is going to help us and helpthe friends we already know, but it's
(26:17):
for the people that we don't know. What a great perspective. I will
cry. I remember the first kidthat I like, actually knew and got
to meet that had been diagnosed inanother state from Newborn's Greening and I and
just his family came down to visitat the beach and I just helped him
in my arms and I just criedbecause right his prognosis, his outlook,
(26:41):
his life expectancy is just incredible comparedto what it could have been if it
wasn't for this awesome, you know, just simple heel stick. Yeah,
can we talk about what intervention haslooked like for you guys and then how
that has changed time even for thatyou know that child, what how is
(27:03):
that outlook different now because of theinterventions available? Yep. So standard of
care with our disease right now isafter your initial diagnosis, most medical facilities
will advise you to start. Wehave an artificial enzyme that is given intravenously.
(27:25):
It's about like a five six hourinfusion and it's weekly. So yeah,
so you know, fifteen twenty yearsago that was enormous and we got
to meet the families that paved theway for that. We've actually gotten to
meet the the physician researcher who developedthat, which is amazing. But yeah,
(27:48):
so you you start that, youstart those weekly. We call it
art enzyme replacement therapy. Start thatprocess while they're looking for a match and
then a like a bone marrow transplantor a cord blood. We had unrelated
stem cell transplant is the standard ofcare. So with that, yeah,
(28:12):
so with our family, we wereliving in Textracana, Arkansas at the time.
So our diagnosing geneticist said, youknow, if if this was my
kid, then I would go tothe University of Minnesota, which we're you
know, we're thankful that we hada geneticis that would tell us that because
we had no idea. So we'redoing weekly enzyme replacement therapies while they look
(28:37):
for a donor because ideally they wantan unrelated donor knot a family one that
would carry the defective gene. Sowe had cord blood and then it is
what about a month of chemo beforeso full chemo they had to totally destroy
(28:57):
the kid's immune system. Yeah.So then like you're waiting for transplant day
and it it's backwards counting, likeyou started like negative, they minus thirty,
right, and you're counting down andthen transplant day is day zero,
right, And it's so anticlimactic becauseit's just like a blood transfusion. It's
(29:21):
not like you know, I mean, they make it as special as they
can. But yeah, and sothat's the easy part. And then once
you start counting upwards after day zeroswhen it gets hard because that's when the
effects of the chemo really happen.So we're in Minnesota, you have to
(29:44):
plan to be there for at leastone hundred days post transplant, wherever your
facility is. So you've already beenthere like a month, and then another
one hundred days post trans Did yourthree kids do this all at the same
time. No, So the olewith our disease is to be diagnosed and
begin treatment and transplant as early asabsolutely possible. So with Zachary, we
(30:10):
didn't know. He was diagnosed ofthe year, and then he had some
complications that pushed his transplant. Hewas a year and a half before he
was transplanted. So then we actuallyfound out we were expecting Amelia while we
were there for Zach's transplant. Soat that time, which was what eleven
(30:34):
almost eleven years ago, diagnostics weren'tas great, so they weren't transplanting kids
as young, so I opted towait. We opted to wait with Amelia
for one, we couldn't do hertransplant. I just could not do it
in the same glendar year as Zachary's, so we came home in what May
(30:57):
from Zach's transplant, and then wewent back up the next year. So
she was eight months when she hadher transplant, but she started in zime
replacement therapy like within her first sixweeks. So we did weekly infusions until
she was eight months old, andthat meant driving from Texarcana to Little Rock
(31:18):
every week, which is like atwo hour drive one way, and we'd
have to be there at like eighto'clock in the morning because it's such a
long infusion. Yeah, but thenby the time Luke came around, treatments
had advanced and they had started transplantingmuch younger, so he, I mean,
(31:42):
he still went through the same processchemo transplant D but the chemo there,
they're always trying to find the leastaggressive form of chemo that we'll still
get the job done for the kids. So Luke was actually he had his
stem cell tray transplant at four monthsold and he still has his complications,
(32:07):
but most of what he deals withis side effects from transplant, not the
actual disease. So you have threekids with pretty different journeys on this because
of timing. Yeah, yeah,we're a really good case study medical advancements.
(32:31):
And some of their you know,some of their similarities were there or
some they had some similarities through Idon't know. I'm not sorry that um
they had they followed the same pathto some degree. Right, So,
especially the boys, they both hadsome of the same really standard transplant complications.
(32:53):
Amelia she did have one pretty majortransplant complication. Her body basically just
stopped producing platelets at one point posttransplant, and she couldn't keep up.
And we were beginning to get tooh no, this is a real problem.
And then like her little lights whichcame on and she just started making
(33:15):
her platelets again. You just tryto put to me on a phone call.
I need to maybe you can helpme with this. That if But
you see the human body like ina drawing or on TV, and you
see the molecules in the cells likerunning through your body, right you is
that what? No, So I'mthe trash can person that we're taking your
(33:37):
recycling out. That's how our diseaseworks, Okay, explained that's me.
So the way the disease works,they're missing one enzyme that breaks down waste
in the lysosomes of the cell.So that's what the lysosome does in your
cell. Is it like recycles cellularwaste. So another MPIs mom came up
(34:00):
with the best way to describe itis like imagine if your recycling truck stopped
coming to your house, like fora while, You'll just put it in
the garage and you're fine, andthen eventually your garage will get too full,
and so you'll have to move intolike your laundry room, and then
that will full get full, andthen you're shoving your recycling into your closets
(34:23):
and eventually it's just gonna take overyour whole house, right, and you
can't do anything. So that's howit is in their bodies, which is
why with every cell, yeah,every cell, every cell and the millions
of cells that you have and aremaking, that is happening. So that
(34:44):
waste is not getting broke down becausethe enzyme is not there to break it
down. So it turns into it'sthis impossibly long word, so we just
call it. Everyone just calls itgags. And it's like mucasy sludge in
their body. Um. And sothat's when the kids were talking about that
they had had their hand surgeries.Yeah, because they did. They talked
(35:07):
a lot about some upcoming, big, upcoming surgeries. Yea. So they're
they're facing this as well as thechemo and the transplants that you guys were
doing on This is a big partof their journey. Yes, especially for
our kids as orthopedic. So.Um So, they were talking about their
hands and what happens is for somereason that the gags like to gather in
(35:30):
the tunnel. So if you thinkof like your carpal tunnel going into your
hand where that nerve is that thegag likes to gather there for some reason,
and it event it starts to presson that nerve going into your hand,
the more it forms and the moreit wi these ten Yeah, you
shrink up. So they go inand they scrape it out of the tunnel.
(35:54):
Um So is that a pretty instantrelief for them, Yeah? I
think so. And it is thatsomething that they'll have to do more,
like on more than one occasion.So the hope is no. And you
know, there's a lot of thingswith this disease that they just they can't
really figure out, Like it doesn'talways make sense. So in the past,
(36:15):
the doctors, Like when Zach andAmelia had their surgeries done, the
doctors would always say like, no, you know, for some reason,
this doesn't happen again. But nowthey're finding as more kids are living longer
with our disease that yeah, itmight it might happen again. Yeah,
we're hopeful. Not so. Theother orthopedic stuff that we have coming up
(36:37):
is more of just bone deformities thatoccur because of the disease, and so
we do we do the transplant sothat it crosses the blood brain barrier because
the enzyme infusions don't do that.But for some reason, even a transplant
doesn't help with our orthopedic issues.And that's pretty standard across the board for
(37:00):
kids with MPs. And that's whylike even Luke, who was diagnosed and
treated so much earlier, he's stillis going to have some of those problems.
So and I think I just wantto make sure I'm falling correctly.
I think what you're saying that iswhat the transplant is. It's introducing the
enzyme that's going to do the workfor the in the cells, that's going
(37:22):
to take the trash out that wasn'tworking before, so you get healthy enzymes
introduced into the body to start doingthe job, which then doesn't reverse any
things that's happened, but hopefully keepsthings from getting worse. Yeah, exactly,
yep, exactly, So it getsthe kids to produce an adequate amount
of enzymes, so it's still nota whole lot. Well, I have
(37:42):
to do this again. The hopeis no, it does happen sometimes where
you know, for some reason,people's transplants fail over years and then we
no one want to say that becauseI don't want the kids to hear that
we do have one kid that's possible, and that's something that you would just
(38:07):
have to measure out with quality oflife, like if you want to go
yeah, because the transplants come witha decent mortality rate just the actual chemo
and transplant itself. So that's somethingthat you really have to you really have
to weigh. I want to soif I'm for each one of these transplants
(38:29):
to happen, there had to bea donor. Yeah, And so I'm
curious if your position or how youguys feel about that's bone marrow transplants or
a donation, right, So ourswas chord blood And it depends on different
diseases use different types of stem cell. So like some of the leukemias and
(38:50):
stuff, they want a living donor. Our hospital prefers chord blood donation.
So it's just like if you hada baby, right, you can just
donate your cord blood to be thematch is who found ours and they just
bank it until it runs through theirsystem and it's a hit. Yeah,
so it's um, I wish Iwould have known that for every baby that
(39:13):
I had, my three, Imean that would be Yeah, it's amazing,
Like I'm not we're not educated enoughon I mean, you're giving that
option that paper. Do you wantto do this in your kind of antsis
what I have no idea. Well, and so with a lot of diseases
too, you also can privately bankyour own kids cord blood. And like
(39:35):
I said, for some of theforms of cancer m they do want like
a sibling match that doesn't have thatUM and so you know that's helpful too.
Um, we know we know thegender and the year that each of
our kids donors were born. U. I would never want to get anyone
(40:01):
in trouble, so I'll try tosay it. I do know the state
that one of our kids donors wasborn in and that's just because we had
the same person looking. She foundall three. She worked behind the scenes
and she's actually the person that foundall three of our kids matches, and
(40:23):
so she's like, I can't tellyou where they're from, but it's really
close to you kind of thing.But yeah, so, and a lot
of them, especially with the livingdonors, like they have a relationship.
You can have a relationship with yourdonor, but unfortunately ours is totally deidentified.
So we don't know who those peopleare, but we remember them and
(40:45):
their moms and our prayers a lot. It's fascinating to think about that there's
these three random kids that are growingup now that your life looks different because
of that choice that that mom made. That's really cool. Yeah, easy
(41:06):
choice, right, I mean,it's just medical white. It's just going
to go in the trash if butyou can, you know, say someone's
who I am. I'm not gonnacry, you can't. I cry a
lot, sorry, So what doeskind of maintenance maybe isn't the right word,
but everyday life now that you've gotI mean that obviously that phase was
(41:30):
significant for all three kids to gothrough the chemo and transplant. Um,
what does the day to day lifelook like now and how how is the
disease still impact day to day lifeand in what ways have the interventions kind
of helped create a different type ofnormal maybe, so we do still have
(41:54):
Maintenance is a great word to use, because that's what we'll oftentimes call it.
Um. You know, now thatthe transplants over, we are maintenancing
and orthopedic issues are probably are ourbiggest hurdles. You know. The kids
get tired, um the faster thanother kids. Their bones heard, it's
(42:20):
not a muscle pain, um,they just you know, walking around all
day at a park will really putthem out. Yeah, We'll have to
like carry them inside from the car. Yeah, and then they'll be down
all the next day. Yeah.They can't. They can't do two strenuous
days in a while, right.And we've you know, we were definitely
(42:45):
UM utilize as many wheelchairs and walkersand things like that as as best we
can, well and as much asyou know, eleven and fourteen year olds
want. It's hard to fall inthat middle gap, you know, So
probably the biggest impact well too,so we have to travel to Minnesota every
(43:07):
year or we choose to travel toMinnesota too because it's a rare disease center
of excellence, and we we seewhat fourteen different specialists in Minnesota, so
we are trying to transfer some ofthose to Birmingham, which would be a
(43:27):
four hour drive instead of an eighteenhour drive. So you know that that's
a big impact on our family becauseyou know, people ask what we're all
going on summer vacation, Well,we're going to Minnesota for a summer vacation,
right, And then the other thebig life change for us that sets
us apart as we choose to homeschoolour kids. And one of the primary
(43:52):
reasons for that is because Zach wouldcome home from second grade and his school
was great, but his campus wasit was just huge, and he would
be in bed the rest of theday. And Mitch and I just decided,
you know that we already have anexpectancy here, we don't want to
(44:13):
waste it for one being away fromthem all day, right, and then
you know, for him to justbe exhausted and not have any fun outside
of that. So we made thatchoice, in the lots of sacrifices that
come with that, to homeschool whichended up being a huge blessing for us.
(44:37):
We were able to find a reallygreat community that's supportive of the kids.
We had homeschool field day last weekand Zach insisted on running the I
don't remember how far it was,but he insisted on running the race right,
and so he got lacked. Iwas just proud of him for finishing.
(44:57):
I thought that was amazing that hewas going to finish, and two
of the boys like ran back withhim and finished with him. And it
wasn't in like a it was justin a friendship, you know. It
was just boys being friends. Andso we're really lucky. And were you
able to hold it together for that? No? No, that's cool.
(45:21):
Yeah. That How has each child'sperspective helped you be strong during all of
all of this in your journey withthem? Because I'm sure each of them
have they bring their own little gustoto this. Yeah, Zach learned a
long time ago that it's easier torip the band aid off. Let's get
(45:45):
it over with. Like you saidearlier, with surgery, he's just ready
to get it over with so thathe could start recovering and get back on
his feet. Um with Zach,there is, there is a bit of
(46:07):
determination to get through it, andhe's very level headed. With Amelia,
she is much more tender, andso you have to really hold her hand
through the process and keep reassuring her. And and that gets tough because I
(46:30):
mean, there's only only so manythings you can't say. And I guess
that probably gets a little bit ofhis level headedness from me, because I
have a tendency and it just it'sokay, let's get through this and then
it'll be over. With Luke,his innocence is still there a little bit.
(46:59):
He's one of these you can sticka lollipop in his mouth and give
him a shot at the same time, and he doesn't know that things went
wrong. Um so I don't knowthat it was still learned enough Wig for
sure. Yeah. Do they helpeach other through their pain or their things
that they're going through. They do. They do. M Zach really shows
(47:25):
the big kid the little kids howto how to be back, to be
brave and carry on, keep calm. And certainly you guys had a lot
of really great things to saying.We had a lot of things to say.
I'm sorry it didn't go too Isthere anything that we didn't cover that
you guys, you'd like to talkabout or wish we had talked about newborn
(47:49):
screening newborn screening much. Is thereanything that we can, like what we
can do to help get that donefor you guys. Is there anything that
we can email any any emails orlike? Oh, September is National Newborn
Screening Awareness Month. I sure youguys are both in Missouri. I'll have
(48:10):
to look and see where Missouri falls. We're actually really excited to live in
a state that we do get tobe at the forefront of these kinds of
things and that you know that wecan be there to help make a lot
of the changes that need to bemade. We love we love living here.
(48:30):
We love our community and the people. So it's exciting to see how
we can improve, you know,for the next generation. So we would
always always always encourage everyone too.You can register for be the match and
(48:50):
they as an adult, they'll sendyou like a swab and I'm sure y'all
have shared this before. And thenalso to look into cord blood donation if
you can, go to the EveryLife Foundation and they have an interactive map
that can show you. You canclick on your state, and it shows
you which diseases are missing that areon the federal recommendations that your state is
(49:15):
not. In that case, Iwould advocate for you to write your congressman,
your federal I mean your state,not federal legislators, and find out
why see if they even know becausemost of them have no idea what new
orange greening is, just like everyoneelse. Yeah, and I mean I
(49:37):
think for everyone, we say,like, just get to know your legislator
like they're does. People at goShout Love we do amazing things for amazing
families with kids on rare medical journeys. Each month we shout love for families
through the sale of creative apparel inspiredby the kids. This months do Small
(49:58):
Things with Great Love to sign isinspired by a trio of siblings from Foley,
Alabama, Zachary, Amelia and Luke, who share a special bond but
also a rare medical diagnosis. Everypurchase in June will be used to help
with the travel expenses to Minnesota forsurgeries for the kids. Visit our website
(50:21):
at goshout dot lov to support Zachary, Amelia and Luke through the purchase of
a T shirt, hated tank toppuddie or other items
We are with Brooke and Mitch andintroducing They are introducing us to their three
amazing kids. So let's start there. Mom, Can you just introduce us
to your three kids, and let'sgo with one descriptive word for each,
and you're going to be next dadwith a follow up questions. So it
(00:22):
may or may not be the sameone. So Zachary is fourteen and he
is very steadfast a good word.Yeah. Amelia is eleven and a half
and she would very much be madif I forgot the half. And she
(00:43):
is our creative child. And thenLuke is seven and he is just full
of life. All right, Dad. One thing that you've learned from each
of your kids? Uh, wasZach it was patience. With Amelia it
(01:03):
was patience, And with Luke itwas patience a triple dose. Yeah,
No, Zach spoiled us. Yeah, Zach really did spoil us. Um,
I think was Zach. I've learnedto give a little leash with how
(01:25):
much she's capable of doing. Um, I don't necessarily have to be there
to hold his hand through every partof it. Um. With Amelia,
Yeah, she's definitely taught me patience. Um No, she's great. Um.
(01:49):
She's definitely taught me how to choosemy battles wisely, that's a that's
a girl, that's a yeah,yeah yeah. And with Luke, Luke
has kept me young for sure.Luke has kept me energetic and trying to
(02:12):
keep up with him because he's alot. I want to answer that one.
Amelia has definitely taught us to findthe beauty and things to stop and
to look for it. And thenLuke is definitely taught me to let go
(02:34):
and just have fun. Today weare in Fully, Alabama, engaging in
a conversation that really packs a punchof openness and authenticity and a few laughs
along the way. My name isSeth Carnell and this is the Ghost Shout
Love Podcast. This episode surrounds afamily who truly treads through the weeds of
(02:59):
a medical erney together and does sowith faith, hope, and love.
We are talking to Mitch and Brooke, the parents of three kids, Zachary
who is fourteen years old, Ameliawho is eleven, and Luke who is
seven, all of which who sharethe same diagnosis of MPs one. Now.
MPs one, or Hurler syndrome,is a rare genetic disorder that occurs
(03:23):
in approximately one in one hundred thousandnewborns. There is so much more about
this diagnosis that Mitch and Brook willtell you about, including the discovery of
it, the odds of all threeof their kids having it, and what
it means for their children and otherchildren with this diagnosis. Not gonna lie.
There are some valuable insights that wewouldn't have unless we have conversations like
(03:45):
this one, including the importance ofnewborn screening. Now, what shouldn't be
lost in all of this, however, is how these parents describe their kids
personalities and relationships with one another.It is extremely endearing and I hope you
enjoy hearing about it just as muchas we enjoyed recording it. Not only
will you get to hear from theparents about these kids, but later in
(04:08):
this month, we will have anadditional bonus episode where you will get to
hear from the children themselves. Thisis a privilege we don't always get,
and we want you to have thechance to hear from these incredible children firsthand.
In this conversation with Mitchen Brook isJosh Beach, our executive director of
Gosh Out Love, and Jessica Santo, our family relations director and talented photographer.
(04:31):
Please take a second to rate andreview this podcast on whatever platform you're
listening on, and please share witha friend. More than anything, we
want these stories to be heard andshared. So how do you guys face
(04:53):
having three children on a medical journey? What does that look like for you
guys each day as parents to getup and to do that well, considering
we do not have any children withoutso that's pretty normal for us. You
know, we've never all three ofthem have the only ones we have.
(05:16):
It is the only way we know. A better question than would be what
would you say to parents who areat the starting gate of it? So,
happiness is a choice a lot oftimes, you know, we could
choose to give in to the fearor the sadness, or we could choose
(05:41):
to find ways to get through itand to make our lives, you know,
the best that they make their lives, the best that we can.
And you know, not to soundtrite when I say that at all,
because sometimes that choice is getting thehelp that you need as a parent,
you know, as a as arare parent. Um, but yeah,
(06:03):
it's it's just some days I wantto just lay in the bed, and
cry, you know when my myfriends kids are making middle school cheerleader or
you know, on playing basketball andall these things and that you know,
my kids can't do. But Ican choose to see the goodness that's come
(06:25):
out of the life that we dolead, Like I get to meet you
guys, um or yeah, allthe amazing people that we've met, friends
that we have that we you know, we would have no idea that this
world even existed. All the goodnessit's there. You just have to look
for it sometimes. Yeah, youcan't fold the cards dealt it's you've got
(06:49):
to play them and make the bestout of it. That's a good analogy
that it's thanks. Yeah, andyou know you run, You run your
own race, and that's what ourfamily is doing. And we're in our
(07:11):
lane and we go as fast oras slow as we need to go.
But you know, core values oflife can be taught, and that's kindness
and love. And if our kidscan show that to others, then I
think that we've successfully done our jobas parents, regardless of any other abilities
(07:39):
or disabilities. Ye, we dependa lot on our faith to get us
through too. Yes, And howeverthat may look for different people. You
know, we always encourage people tofind that within them because and I you
know, I tell newly diagnosed parentsthey're getting ready to go to transplant,
(08:03):
like, better find your God,whichever one, because there's going to be
some nights that it's just you andthem there in the hospital room. How
did you And if this is toopersonal, please say so, and we
don't have we'll cut it. Buthow has there been times where you've had
(08:24):
to wrestle in your faith about agood God in a really difficult season?
And I guess the simplest way thatwe all wrestle with that is good things
or bad things happening to good peopleis the simplest way that most people probably
think about that. But when itis when you are in the room and
(08:45):
it's just you and your thoughts andtaking that to God, Like, what
did that look like for you?I mean, absolutely we wrestle with that.
We I mean often for me,it's been knowing in my faith and
my belief that you can't have goodnessand wholeness and truth without suffering, right,
(09:15):
you can't have a rainbow without thethunderstorm, and so balancing that and
how and sometimes I don't have ananswer. You know, sometimes I just
have to I have to have faiththat that there is a purpose in my
(09:35):
brain. May not understand it,it may never understand it here, but
it gets me through the day believingthat it is for a reason even if
I can't see it. And youknow, so my memal as a very
(09:56):
praying woman. She always says thatif everyone threw all their troubles into one
big fire, you would run andgrab your own right back out right.
So we have this hand that we'redealt with our family, with our kids,
but we also don't have some ofthe problems that other people, you
(10:18):
know, may have, And soit's just recognizing the good for what it
is and persevering through the hard times. Dad, how are you doing with
all of them? The end gamefor my life for the kids is it's
(10:43):
not in my hands. And aslong as I can teach them that there
is goodness in the world despite thebad and strive to see it myself,
I think when that time comes,it's it's again out of my hands and
(11:07):
hopefully place in the right hands.So day by day, I guess you
could say, you know, lookfor the goodness out of every day as
best you can I know some daysare tough, Know that that's suffering,
whether it be your family, ourfamily, the child that you love,
(11:31):
or family members going through the samething, friends going through the same thing,
their struggles are there to be lightto other things? Yeah? Yeah,
I think that's an important thing thatwe try to teach the kids and
try to remember ourselves, is like, how can we how can we help
(11:56):
others around us? How can webe a light for other people? You
ought to see Zach, can youtell them where? At events? He's
never still, He's never sitting downand just going to eat his plate of
you know whatever and play with thekids. He's grabbing a trash bag and
(12:16):
talking to the you know, theadult volunteers and making sure that tables campaign
well. So he shaking hands.His nickname was the Governor of Ronald McDonald's
house because he was so young,he was like eight, and he would
he knew because you all come downfor dinner at night together and a lot
(12:41):
of times the child's not there,you know, they're impatient and so but
he knew, and he would walkup to you and he'd say, you
know, hi, how is andhe would say the child's name, how
are they doing today, did theysee the doctor today? Or they still
sick? And he would shake theirhand and you know, he's like that.
Any knew families that would come tothe house, Um, the staff
would go and find Zach and havethem, have him escort them and showed
(13:05):
them around and um. So weyou know, social media gets a bad
rap a lot, but when no, no, no, I meant no,
I'm meeting that families when we sitdown and record these podcasts, have
a lot of good things to sayabout something. Yeah, well it's such
(13:26):
a it's such so helpful. Sowhen Zach was when Zach was first initially
not like unofficially diagnosed, our pediatriciansaid, I think he has MPs one.
Do not go home and google it? Okay, So the first thing
you do is go home and googleit, right, And it's awful.
It's like outdated information. It's terrible. So one of our goals in mine,
(13:54):
you know, especially, was howcan I be a force for good
for these newly diagnosed parents. Howcan how can our story help someone else?
So can we show like, Okay, yes you have this terrible diagnosis,
but this is all the good thatcan come from it. So like
that's why I put my kids pictureson social media, and I you know,
try to share all the good thingsthat happen, not to diminish the
(14:18):
hard stuff that they go through,but just to show other families like,
yeah, your life is going tolook a little different, but it can
still be really great. What Joshand I learned on the way down here,
we were doing a little research thateach of your children had a one
in four chance of having MPs one, and all three of your children have
(14:39):
that. So you were explaining someexplain that one more time. The this
little beautiful what is this called apunnet punnets square. Yeah, so just
like it's very interesting your high schoolbiology class, if you know, if
one of the parents has blue eyes, and then you're trying to figure out
(15:01):
which one is, but brown eyesare dominant, So our kids would have
twenty five percent chance of not havingthe disease, a twenty five percent chance
of having the disease, or afifty percent chance of being a carrier for
the disease, which is what Mitcheand I are both carriers. So we
(15:22):
actually have the same mutation and it'sa very common one. You know,
you wear your you know, yourmutation of your gene in our world like
your shoe size, basically like,oh, yeah, what mutation are you?
But there are actually only two otherfamilies in the continental US that have
(15:43):
three living children with our disease.So when you say it's a common mutation,
what do you mean by that?So there's I'm not super sciency,
but there's just different ways that thatcopy of that gene can be mutator.
(16:03):
Which gene it is that's mutated andI hate that word mutated, right,
but I don't want to say defectiveeither, but um so it can be
different genes and different copies that wouldcause the disease to happen. So we
we are the first in our families. And that's typically because a lot of
(16:26):
times these are diseases that wouldn't havesurvived past infancy even you know, thirty
thirty five years ago, but withthe advancement of nick U's and neonatology care
that that now they've lived longer,so you know, we might have.
And they just chalked it up to, you know, the baby died.
(16:47):
They didn't really know a cause.But then so we found out Mitch got
a call one day nine years ago. Yeah, I got a call from
a distant cousin of mine that I'vemet a few times at family reunions,
but and I knew she was andshe called me and said, hey,
(17:08):
um, this is your cousin andum, my son just got diagnosed with
Hurler syndrome. And so we immediatelyassumed that are connecting relatives the O'Dwyer line
of my grandmother. So their grandmotherswere sisters, this cousin and Mitch's grandmother.
(17:30):
Yeah, and so we just said, well, that's that's got to
be where the line that it comesfrom, at least for you know,
my my my family, and um, she come to find out, does
not have the same mutation. Soit's not through that side of the family,
(17:52):
this family relative. So it wasnot Hurler syndrome. It is a
different mutation. Differ mutation should tocause the disease. Yeah, So what
does that mean exactly? I'm alittle confused. So they have it,
but it's a different mutation yep.Yeah. So, UM, I'm going
(18:12):
to vaguely say, because I don'tknow that, I'm assuming whatever mutation it
is cause the enzyme to or causethe cause the body to not produce the
enzyme exactly, so, and that'sterrible, Like you can cut all this
part out because I should know howmany different mutations there are for art disease,
(18:34):
But for most of these diseases,there are multiple mutations that could cause
the inheritance of it. Like,I mean, that's that's really common.
But on the practical side, basicallythat means there's at least two versions in
your family line, right, welldo no, Yeah, it actually means
that they they didn't inherit it fromtheir common ancestor, right, so she
(19:00):
probably inherited it from her mother's side, and he probably inherited it from his
mother's side versus their fathers shared side. Fascinating. It's like a she did
the math because she's way smarter thanme, but it's like a one in
five billion champ of having a distantrelative with the same disease and did not
even the same mutation. Yeah,so she and her husband have the same
(19:22):
mutation. Mitch and I have thesame mutation. It's it's winning the type
of lottery that you don't sign upto play. Yeah, right, for
sure. But I mean, nowwe have this awesome family in our lives,
Like she and I just went ona girl's trip together a couple of
weekends ago. So now you knowthey live in Delaware, we would have
(19:44):
probably never met them. And howold is their child? Nine nine,
Stephanie, I really hope he's northas I can't remember, nine ish,
somewhere in the nine range, youngerthan Amelia. Is he on the kind
of the same path from the journeysYou're so different, so our kids are.
(20:06):
We're very, very fortunate. Ourkids are much less affected by the
disease than most children. Our primaryissues are orthopedic. We have some mild
developmental delays, nothing as severe asmost of the kid's face. Zach has
(20:30):
a little bit of cardiac involvement,but we're still like in a watch and
see, but he will have tohave some intervention with that in the future.
But you know, a lot ofkids are severely cognitively delayed. Many
of our kids also have a dualnot many of the kids with our disease
(20:52):
have a dual diagnosis of autism,and so our kids have none of that.
And the hope that with the youknow, things like with the newborn
screening that we're doing, the hopeis to earlier intervention will prevent some of
these severities taking place. How hardis it to get a newborn screening past?
(21:17):
So when when we say newborn screening, we're talking about like the heel
state carts when the baby's born.So most of the people just think of
it as a PKU test not actuallystarted in the sixties with PKU, and
it is I'll just bring out allmy talking points. It is the most
successful public health program in the country. Right. So the way it works
(21:41):
is the federal government comes out witha recommended screening panel. It is a
year's long process to have the diseaseadded to the federal guidelines, I mean,
and oftentimes advocacy groups have to apply, like several times because you have
to prove, you know, withoutany kind of doubt that it is more
(22:06):
cost effective to screen every baby bornat birth than to wait until these diagnosises
go untreated years down. And therehas to be you know, an easy
test that the public health labs cando to screen the babies, and there
has to be some sort of treatment. Right, They're not going to screen
(22:29):
all these babies just so you knowyou have the disease. So the Department
of Health and Human Services puts outthis guideline and then it's up to the
states essentially to primarily fund and coordinateoperate their own newborn screening programs. And
(22:53):
there's a big push in the raredisease world. It's it's been a you
know, it's been a big dealfor the last couple of years because we've
had some stuff going on at thefederal level, and of course COVID put
a damper on a lot of things. But what we're finding, especially in
our state, is that this thepoorer states, it's taking you know,
(23:15):
upwards five to eight years after thesediseases are added to the federal panel for
it to actually be enforced on thestate level. So our disease was added
to the federal guidelines in twenty sixteenand Alabama is still not screening for it.
Over we're getting close to forty statesnow are at or near or plan
(23:40):
to be at parody with the federalguidelines, you know, within the next
few years. So we're getting there. So is that a what it's added,
Is that a requirement that states comply? No, it's just a recommendation,
just a recommendation. Some might jumpon it, and yeah, and
(24:02):
you I mean, you can guessthe states that do right, So the
coasts obviously they have colors that gowith them. Yep. Ye, Minnesota
is always at the forefront of thingslike that. So we're lucky that we
receive all of our care. Sowe have a lot of connections in Minnesota.
So that's helped us some here andthen even now, so like Mississippi,
(24:23):
Tennessee, Georgia and Florida and Texasare all on their way and so
we're just trying hoping for some peerpressure. Yeah, we're trying to keep
Alabama from being least ye and whatdoes that look like for your involvement?
And Zachary, so he's involved.Yeah, so Zach Zach loves to share
(24:45):
his story with our legislators. Um, he does. He's done that for
many years at the federal and thestate level. Um. He and our
US representative on a first name basiswith each other. But yeah, so
we are a part of an organization, a rare disease organization in the state.
(25:07):
And we I mean, we essentiallyhave drafted state legislation. We have
a bill. Zachary doesn't know ityet, but the bill's actually going to
be named after him. So wehave that draft legislation and now we're working
with all of the different stakeholders withinthe state to get everyone's agreement on our
bills so that we can put itup for a vote in the legislature.
(25:32):
Yeah, but we want to do, you know, the hard work on
the back end to make sure thatyou know the insurance companies and medicaid and
that there's a path to implement it. Yeah. Yeah, So it would
be you know, creating a timelineso that these diseases aren't going years without
and we're missing now fifty thousand babies. There are three four seven kids in
(25:56):
Alabama that we know of with ourdisease, which is kind of surprising,
and that's a lot for as smallpopulation as we have. But we always
say that all of this advocacy inNewborn's Greening work that we do, that's
for the friends we haven't met yet, right, Like, none of this
is going to help us and helpthe friends we already know, but it's
(26:17):
for the people that we don't know. What a great perspective. I will
cry. I remember the first kidthat I like, actually knew and got
to meet that had been diagnosed inanother state from Newborn's Greening and I and
just his family came down to visitat the beach and I just helped him
in my arms and I just criedbecause right his prognosis, his outlook,
(26:41):
his life expectancy is just incredible comparedto what it could have been if it
wasn't for this awesome, you know, just simple heel stick. Yeah,
can we talk about what intervention haslooked like for you guys and then how
that has changed time even for thatyou know that child, what how is
(27:03):
that outlook different now because of theinterventions available? Yep. So standard of
care with our disease right now isafter your initial diagnosis, most medical facilities
will advise you to start. Wehave an artificial enzyme that is given intravenously.
(27:25):
It's about like a five six hourinfusion and it's weekly. So yeah,
so you know, fifteen twenty yearsago that was enormous and we got
to meet the families that paved theway for that. We've actually gotten to
meet the the physician researcher who developedthat, which is amazing. But yeah,
(27:48):
so you you start that, youstart those weekly. We call it
art enzyme replacement therapy. Start thatprocess while they're looking for a match and
then a like a bone marrow transplantor a cord blood. We had unrelated
stem cell transplant is the standard ofcare. So with that, yeah,
(28:12):
so with our family, we wereliving in Textracana, Arkansas at the time.
So our diagnosing geneticist said, youknow, if if this was my
kid, then I would go tothe University of Minnesota, which we're you
know, we're thankful that we hada geneticis that would tell us that because
we had no idea. So we'redoing weekly enzyme replacement therapies while they look
(28:37):
for a donor because ideally they wantan unrelated donor knot a family one that
would carry the defective gene. Sowe had cord blood and then it is
what about a month of chemo beforeso full chemo they had to totally destroy
(28:57):
the kid's immune system. Yeah.So then like you're waiting for transplant day
and it it's backwards counting, likeyou started like negative, they minus thirty,
right, and you're counting down andthen transplant day is day zero,
right, And it's so anticlimactic becauseit's just like a blood transfusion. It's
(29:21):
not like you know, I mean, they make it as special as they
can. But yeah, and sothat's the easy part. And then once
you start counting upwards after day zeroswhen it gets hard because that's when the
effects of the chemo really happen.So we're in Minnesota, you have to
(29:44):
plan to be there for at leastone hundred days post transplant, wherever your
facility is. So you've already beenthere like a month, and then another
one hundred days post trans Did yourthree kids do this all at the same
time. No, So the olewith our disease is to be diagnosed and
begin treatment and transplant as early asabsolutely possible. So with Zachary, we
(30:10):
didn't know. He was diagnosed ofthe year, and then he had some
complications that pushed his transplant. Hewas a year and a half before he
was transplanted. So then we actuallyfound out we were expecting Amelia while we
were there for Zach's transplant. Soat that time, which was what eleven
(30:34):
almost eleven years ago, diagnostics weren'tas great, so they weren't transplanting kids
as young, so I opted towait. We opted to wait with Amelia
for one, we couldn't do hertransplant. I just could not do it
in the same glendar year as Zachary's, so we came home in what May
(30:57):
from Zach's transplant, and then wewent back up the next year. So
she was eight months when she hadher transplant, but she started in zime
replacement therapy like within her first sixweeks. So we did weekly infusions until
she was eight months old, andthat meant driving from Texarcana to Little Rock
(31:18):
every week, which is like atwo hour drive one way, and we'd
have to be there at like eighto'clock in the morning because it's such a
long infusion. Yeah, but thenby the time Luke came around, treatments
had advanced and they had started transplantingmuch younger, so he, I mean,
(31:42):
he still went through the same processchemo transplant D but the chemo there,
they're always trying to find the leastaggressive form of chemo that we'll still
get the job done for the kids. So Luke was actually he had his
stem cell tray transplant at four monthsold and he still has his complications,
(32:07):
but most of what he deals withis side effects from transplant, not the
actual disease. So you have threekids with pretty different journeys on this because
of timing. Yeah, yeah,we're a really good case study medical advancements.
(32:31):
And some of their you know,some of their similarities were there or
some they had some similarities through Idon't know. I'm not sorry that um
they had they followed the same pathto some degree. Right, So,
especially the boys, they both hadsome of the same really standard transplant complications.
(32:53):
Amelia she did have one pretty majortransplant complication. Her body basically just
stopped producing platelets at one point posttransplant, and she couldn't keep up.
And we were beginning to get tooh no, this is a real problem.
And then like her little lights whichcame on and she just started making
(33:15):
her platelets again. You just tryto put to me on a phone call.
I need to maybe you can helpme with this. That if But
you see the human body like ina drawing or on TV, and you
see the molecules in the cells likerunning through your body, right you is
that what? No, So I'mthe trash can person that we're taking your
(33:37):
recycling out. That's how our diseaseworks, Okay, explained that's me.
So the way the disease works,they're missing one enzyme that breaks down waste
in the lysosomes of the cell.So that's what the lysosome does in your
cell. Is it like recycles cellularwaste. So another MPIs mom came up
(34:00):
with the best way to describe itis like imagine if your recycling truck stopped
coming to your house, like fora while, You'll just put it in
the garage and you're fine, andthen eventually your garage will get too full,
and so you'll have to move intolike your laundry room, and then
that will full get full, andthen you're shoving your recycling into your closets
(34:23):
and eventually it's just gonna take overyour whole house, right, and you
can't do anything. So that's howit is in their bodies, which is
why with every cell, yeah,every cell, every cell and the millions
of cells that you have and aremaking, that is happening. So that
(34:44):
waste is not getting broke down becausethe enzyme is not there to break it
down. So it turns into it'sthis impossibly long word, so we just
call it. Everyone just calls itgags. And it's like mucasy sludge in
their body. Um. And sothat's when the kids were talking about that
they had had their hand surgeries.Yeah, because they did. They talked
(35:07):
a lot about some upcoming, big, upcoming surgeries. Yea. So they're
they're facing this as well as thechemo and the transplants that you guys were
doing on This is a big partof their journey. Yes, especially for
our kids as orthopedic. So.Um So, they were talking about their
hands and what happens is for somereason that the gags like to gather in
(35:30):
the tunnel. So if you thinkof like your carpal tunnel going into your
hand where that nerve is that thegag likes to gather there for some reason,
and it event it starts to presson that nerve going into your hand,
the more it forms and the moreit wi these ten Yeah, you
shrink up. So they go inand they scrape it out of the tunnel.
(35:54):
Um So is that a pretty instantrelief for them, Yeah? I
think so. And it is thatsomething that they'll have to do more,
like on more than one occasion.So the hope is no. And you
know, there's a lot of thingswith this disease that they just they can't
really figure out, Like it doesn'talways make sense. So in the past,
(36:15):
the doctors, Like when Zach andAmelia had their surgeries done, the
doctors would always say like, no, you know, for some reason,
this doesn't happen again. But nowthey're finding as more kids are living longer
with our disease that yeah, itmight it might happen again. Yeah,
we're hopeful. Not so. Theother orthopedic stuff that we have coming up
(36:37):
is more of just bone deformities thatoccur because of the disease, and so
we do we do the transplant sothat it crosses the blood brain barrier because
the enzyme infusions don't do that.But for some reason, even a transplant
doesn't help with our orthopedic issues.And that's pretty standard across the board for
(37:00):
kids with MPs. And that's whylike even Luke, who was diagnosed and
treated so much earlier, he's stillis going to have some of those problems.
So and I think I just wantto make sure I'm falling correctly.
I think what you're saying that iswhat the transplant is. It's introducing the
enzyme that's going to do the workfor the in the cells, that's going
(37:22):
to take the trash out that wasn'tworking before, so you get healthy enzymes
introduced into the body to start doingthe job, which then doesn't reverse any
things that's happened, but hopefully keepsthings from getting worse. Yeah, exactly,
yep, exactly, So it getsthe kids to produce an adequate amount
of enzymes, so it's still nota whole lot. Well, I have
(37:42):
to do this again. The hopeis no, it does happen sometimes where
you know, for some reason,people's transplants fail over years and then we
no one want to say that becauseI don't want the kids to hear that
we do have one kid that's possible, and that's something that you would just
(38:07):
have to measure out with quality oflife, like if you want to go
yeah, because the transplants come witha decent mortality rate just the actual chemo
and transplant itself. So that's somethingthat you really have to you really have
to weigh. I want to soif I'm for each one of these transplants
(38:29):
to happen, there had to bea donor. Yeah, And so I'm
curious if your position or how youguys feel about that's bone marrow transplants or
a donation, right, So ourswas chord blood And it depends on different
diseases use different types of stem cell. So like some of the leukemias and
(38:50):
stuff, they want a living donor. Our hospital prefers chord blood donation.
So it's just like if you hada baby, right, you can just
donate your cord blood to be thematch is who found ours and they just
bank it until it runs through theirsystem and it's a hit. Yeah,
so it's um, I wish Iwould have known that for every baby that
(39:13):
I had, my three, Imean that would be Yeah, it's amazing,
Like I'm not we're not educated enoughon I mean, you're giving that
option that paper. Do you wantto do this in your kind of antsis
what I have no idea. Well, and so with a lot of diseases
too, you also can privately bankyour own kids cord blood. And like
(39:35):
I said, for some of theforms of cancer m they do want like
a sibling match that doesn't have thatUM and so you know that's helpful too.
Um, we know we know thegender and the year that each of
our kids donors were born. U. I would never want to get anyone
(40:01):
in trouble, so I'll try tosay it. I do know the state
that one of our kids donors wasborn in and that's just because we had
the same person looking. She foundall three. She worked behind the scenes
and she's actually the person that foundall three of our kids matches, and
(40:23):
so she's like, I can't tellyou where they're from, but it's really
close to you kind of thing.But yeah, so, and a lot
of them, especially with the livingdonors, like they have a relationship.
You can have a relationship with yourdonor, but unfortunately ours is totally deidentified.
So we don't know who those peopleare, but we remember them and
(40:45):
their moms and our prayers a lot. It's fascinating to think about that there's
these three random kids that are growingup now that your life looks different because
of that choice that that mom made. That's really cool. Yeah, easy
(41:06):
choice, right, I mean,it's just medical white. It's just going
to go in the trash if butyou can, you know, say someone's
who I am. I'm not gonnacry, you can't. I cry a
lot, sorry, So what doeskind of maintenance maybe isn't the right word,
but everyday life now that you've gotI mean that obviously that phase was
(41:30):
significant for all three kids to gothrough the chemo and transplant. Um,
what does the day to day lifelook like now and how how is the
disease still impact day to day lifeand in what ways have the interventions kind
of helped create a different type ofnormal maybe, so we do still have
(41:54):
Maintenance is a great word to use, because that's what we'll oftentimes call it.
Um. You know, now thatthe transplants over, we are maintenancing
and orthopedic issues are probably are ourbiggest hurdles. You know. The kids
get tired, um the faster thanother kids. Their bones heard, it's
(42:20):
not a muscle pain, um,they just you know, walking around all
day at a park will really putthem out. Yeah, We'll have to
like carry them inside from the car. Yeah, and then they'll be down
all the next day. Yeah.They can't. They can't do two strenuous
days in a while, right.And we've you know, we were definitely
(42:45):
UM utilize as many wheelchairs and walkersand things like that as as best we
can, well and as much asyou know, eleven and fourteen year olds
want. It's hard to fall inthat middle gap, you know, So
probably the biggest impact well too,so we have to travel to Minnesota every
(43:07):
year or we choose to travel toMinnesota too because it's a rare disease center
of excellence, and we we seewhat fourteen different specialists in Minnesota, so
we are trying to transfer some ofthose to Birmingham, which would be a
(43:27):
four hour drive instead of an eighteenhour drive. So you know that that's
a big impact on our family becauseyou know, people ask what we're all
going on summer vacation, Well,we're going to Minnesota for a summer vacation,
right, And then the other thebig life change for us that sets
us apart as we choose to homeschoolour kids. And one of the primary
(43:52):
reasons for that is because Zach wouldcome home from second grade and his school
was great, but his campus wasit was just huge, and he would
be in bed the rest of theday. And Mitch and I just decided,
you know that we already have anexpectancy here, we don't want to
(44:13):
waste it for one being away fromthem all day, right, and then
you know, for him to justbe exhausted and not have any fun outside
of that. So we made thatchoice, in the lots of sacrifices that
come with that, to homeschool whichended up being a huge blessing for us.
(44:37):
We were able to find a reallygreat community that's supportive of the kids.
We had homeschool field day last weekand Zach insisted on running the I
don't remember how far it was,but he insisted on running the race right,
and so he got lacked. Iwas just proud of him for finishing.
(44:57):
I thought that was amazing that hewas going to finish, and two
of the boys like ran back withhim and finished with him. And it
wasn't in like a it was justin a friendship, you know. It
was just boys being friends. Andso we're really lucky. And were you
able to hold it together for that? No? No, that's cool.
(45:21):
Yeah. That How has each child'sperspective helped you be strong during all of
all of this in your journey withthem? Because I'm sure each of them
have they bring their own little gustoto this. Yeah, Zach learned a
long time ago that it's easier torip the band aid off. Let's get
(45:45):
it over with. Like you saidearlier, with surgery, he's just ready
to get it over with so thathe could start recovering and get back on
his feet. Um with Zach,there is, there is a bit of
(46:07):
determination to get through it, andhe's very level headed. With Amelia,
she is much more tender, andso you have to really hold her hand
through the process and keep reassuring her. And and that gets tough because I
(46:30):
mean, there's only only so manythings you can't say. And I guess
that probably gets a little bit ofhis level headedness from me, because I
have a tendency and it just it'sokay, let's get through this and then
it'll be over. With Luke,his innocence is still there a little bit.
(46:59):
He's one of these you can sticka lollipop in his mouth and give
him a shot at the same time, and he doesn't know that things went
wrong. Um so I don't knowthat it was still learned enough Wig for
sure. Yeah. Do they helpeach other through their pain or their things
that they're going through. They do. They do. M Zach really shows
(47:25):
the big kid the little kids howto how to be back, to be
brave and carry on, keep calm. And certainly you guys had a lot
of really great things to saying.We had a lot of things to say.
I'm sorry it didn't go too Isthere anything that we didn't cover that
you guys, you'd like to talkabout or wish we had talked about newborn
(47:49):
screening newborn screening much. Is thereanything that we can, like what we
can do to help get that donefor you guys. Is there anything that
we can email any any emails orlike? Oh, September is National Newborn
Screening Awareness Month. I sure youguys are both in Missouri. I'll have
(48:10):
to look and see where Missouri falls. We're actually really excited to live in
a state that we do get tobe at the forefront of these kinds of
things and that you know that wecan be there to help make a lot
of the changes that need to bemade. We love we love living here.
(48:30):
We love our community and the people. So it's exciting to see how
we can improve, you know,for the next generation. So we would
always always always encourage everyone too.You can register for be the match and
(48:50):
they as an adult, they'll sendyou like a swab and I'm sure y'all
have shared this before. And thenalso to look into cord blood donation if
you can, go to the EveryLife Foundation and they have an interactive map
that can show you. You canclick on your state, and it shows
you which diseases are missing that areon the federal recommendations that your state is
(49:15):
not. In that case, Iwould advocate for you to write your congressman,
your federal I mean your state,not federal legislators, and find out
why see if they even know becausemost of them have no idea what new
orange greening is, just like everyoneelse. Yeah, and I mean I
(49:37):
think for everyone, we say,like, just get to know your legislator
like they're does. People at goShout Love we do amazing things for amazing
families with kids on rare medical journeys. Each month we shout love for families
through the sale of creative apparel inspiredby the kids. This months do Small
(49:58):
Things with Great Love to sign isinspired by a trio of siblings from Foley,
Alabama, Zachary, Amelia and Luke, who share a special bond but
also a rare medical diagnosis. Everypurchase in June will be used to help
with the travel expenses to Minnesota forsurgeries for the kids. Visit our website
(50:21):
at goshout dot lov to support Zachary, Amelia and Luke through the purchase of
a T shirt, hated tank toppuddie or other items
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