(music).
It is every parent's worst nightmare.
Without any warning, your healthy newborn baby suddenly comes down with deadly medical
symptoms, putting you in a race against time to find a diagnosis.
The situation gets so critical that doctors say your baby has less than 48 hours to live.
Completely devastating.
Where do you turn for help?
Joining me this morning are Jon and Amanda Miller, and an Associate Professor of Pediatrics
from the University of North Carolina School of Medicine, Dr. Muge Calikoglu.
Good morning to all of you.
Good morning.
Amanda, let me start with you.
Evan is your son.
When he's born, everything is fine and then you start noticing something's wrong.
What happened?
Yes.
He was very colicky.
We couldn't lay him down flat to sleep.
He would scream.
Had a lot of projectile vomiting.
Very hard to feed.
Just certain issues like that, would present like acid reflux or colic, but there was more
to it.
You knew something was wrong?
Yes.
We just -- it wasn't right.
What happened next Jon?
Things just got worse?
He just started becoming uneasy, and the main thing was his abdomen kept getting bigger
and bigger and bigger.
It was distended to the point where it was like a basketball.
And I noticed one night when I was giving him a bath that, you know, I stood up and
I looked at him kind of different than I had before, and I noticed how big his stomach
was.
And it was just huge.
And jaundice, too?
Yeah.
And that's when the gravity started to set in that something probably is not right here.
And, Amanda, at what point did a doctor tell you your son has 48 hours to live because
I just can't imagine hearing that.
Yeah.
We were at two hospitals previous, and they just knew that he had ascites, fluid in the
abdomen.
His blood sugar was only 23.
He was in liver failure, and his blood wasn't clotting.
So they sent us to Children's Hospital in Philadelphia, and at that point they told
us he only had the 48 hours and they had to get to work.
Every specialist came in the room.
And did they figure what was wrong, Jon?
That place is amazing.
We got there at about 2:00 in the morning, and the room was full of specialists and doctors
and nurses and stuff.
And what was the diagnosis?
The diagnosis was Tyrosinemia Type 1.
Doctor, let me bring you in now.
What exactly is that?
It's a metabolic disorder, special protein animo acid tyrosine in the body is not able
to be processed by the liver.
Infants present, like Evan did, liver failure, jaundice, fluid in the belly which was why
he was so swollen, blood clotting problems.
It can be fatal if it presents this early.
So, they were very fortunate to reach a name and a diagnosis and receive necessary treatment.
So, Jon, you were receiving treatment there to help Evan live?
Yeah.
They immediately started the treatment and he started to come back.
Improve, yes.
And Doctor, genetic?
Rare?
Yes.
It's very rare.
Both parents are carriers for the disease.
It's 1 in 100,000.
There are probably about 100 patients in the United States and about 200 in the world.
Difficult to diagnose.
Confusing with other conditions.
A newborn screening test is available, but may give false negative results.
And you have to be aware and clinically make diagnosis and think that it could be metabolic.
And we can save children.
I'm very glad that Evan made it.
We were given a newborn screening, and they told us everything was fine.
Take your son home and enjoy your life.
There's nothing wrong with him.
And I want you to stay right there because, Jon, I want to learn more about this test,
Doctor, more about this disease, and of course Evan.
He's coming out to join us.
Evan is alive and doing well.
So, stay right there.
We're going to hear more about Evan and how he's doing today.
(music).
Welcome back to The Balancing Act.
We're here with Dr. Calikoglu from the University of North Carolina School of Medicine and a
remarkable family, Jon and Amaanda Miller, who faced an extremely rare disease.
They not only beat it.
They're now helping others faced with the same diagnosis.
Amanda, let me bring you in.
You started an organization.
It's really important because it's just such a rare disease.
Tell me about it.
Yeah.
So, my husband actually started more of it, but we went to a Rare Disease Day event that
was held in our state.
And everyone was just talking to us, and there wasn't much for Tyrosinemia.
So, it was mostly his idea.
And, Jon, when you decided to do this, did it kind of help you cope with the fact that
your son had this disease?
He had 48 hours to live and what you went through?
Maybe even helping other families out there?
Yeah.
It was incredibly traumatic when they gave us the diagnosis and they wrote it down on
a napkin.
And you google that word, Tyrosinemia, and you find nothing.
Nothing on it?
There was nothing on the internet about it.
Well, the Doctors told us not to read anything on the internet either.
Yeah, they said, "Don't read anything" because it's all scary.
But while you were still trying to find out information, you couldn't find anything?
There was nothing.
The first thing we do is start a Facebook group just to see if anybody with Tyrosinemia
would search that tag line and then join us.
And the next thing you know, another family came in, another family came in, another family
came in.
"Hey, we've got a child."
"We've got a child."
And it's grown now to where we have over 300 members around the world of medical professionals,
people from pharmaceutical companies, and of course families, aunts, uncles, grandparents,
and some of the young adult patients themselves.
And we're representing 56 patients at this time.
That's great.
And Doctor, let's recap again because, again, it is a very rare disease HT-1.
The accurate screening test, really important, isn't it?
Yes.
So, newborn screening programs usually look at tyrosine levels, and that's not accurate
and can have false results as it did in Evan's case.
The most accurate one right now is Succinylacetone.
Unfortunately, not all states are screening with this technique and we recommend that
that's the standard of care in the United States and in the world to make this diagnosis
earlier.
The earlier you make the diagnosis, the better outcome will be for all children involved.
And I would like to thank this family for their work in advocacy because communities
of parents working with physicians will increase awareness of such rare disorders.
And important to note also, the treatment protocols that are available which is exactly
what Evan received.
Yes.
So, the condition requires a special diet low in tyrosine and phenylalanine, and also
special medical foods like a formula that he will be drinking.
Well, I actually want to bring Evan out if we can.
I think, there is he, come Evan.
Come join us.
How are you?
Hey buddy.
Oh, he's so shy.
I heard you just turned 6.
Happy Birthday to you.
I'm in first grade.
You are?
Yeah.
You are just fantastic.
You know that?
Yeah.
I know you do.
I was watching you.
I was in that room by that mirror.
How did I do?
Did I do okay?
Yeah.
I did alright, right?
But Dad did good, right?
Yeah.
And mom did great!
Yeah.
Evan, say "I have Tyrosinemia and I'm okay."
I have Tyrosinemia (babbles) Well, I want to thank you so much for coming,
okay?
You're welcome.
For our viewers out there that would love to learn more about HT-1 and your organization
and everything they need to know, where would they go?
They would go to www.NotaCares.org.It's N-O-T-A Cares dot Org.
I want to thank you both so much for sharing your story.
Doctor, thank you so much for coming in today.
Anytime.
You come back.
Okay?
You're like my favorite guest at this point.
God bless you.
We're going to the beach after this.
And if you'd like more information on HT-1, look at the website right now on your screen.
Click it, learn more, and also go to our website, TheBalancingAct.com for more information.
Love this kid!