(music).
As a child, I remember having a growth chart on my bedroom wall.
I so loved when my mom measured my height.
You know, growing taller is a natural progression for most children, but not for those who have
a medical condition that stunts their growth.
In this Behind The Mystery Rare and Genetic Series, we examine pediatric growth hormone
deficiency.
Our guests are Pediatric Endocrinologist, Dr. Will Charlton of the pharmaceutical company,
Versartis, and Lisa and Emmy Grace, a mother and her daughter, who will share their journey
with us.
Welcome to the show.
It's so great to have you here today.
Doctor, what is growth hormone deficiency and how common is it in children?
Growth hormone deficiency affects about 1 in 3,500 kids in the United States, and there
are multiple reasons why you can be deficient, not make enough growth hormone.
Sometimes you're born that way.
Sometimes the hypothalamus, which is at the bottom of your brain and controls the pituitary
gland doesn't develop properly.
Sometimes the pituitary gland itself, which is a little pea-sized gland at the base of
your brain and excretes a whole bunch of different hormones.
If that doesn't develop properly, then you also don't make enough growth hormone.
So what is considered normal growth, and how do you measure that?
Well, the first few years of life, growth is really really rapid.
Okay.
But between toddlerhood and puberty, growth settles down.
Normal growth is at least 2 - 2.5 inches a year.
Now, Lisa, as a parent we really have to be our child's advocate, don't we?
Yes, absolutely.
And, Doctor, what should we as parents look for?
Well, when you take your child to the pediatrician and they map out the child's growth on the
growth chart, there are a couple of red flags.
The first one is if your child is shorter than 97% of their peers.
The second red flag is that tracking over time if the rate of growth isn't keeping up
with that line and it's tapering off.
Then that's a big red flag.
When did you start noticing what you thought may be symptoms with Emmy?
Well, we've been following with our pediatric endocrinologist.
They've been following her height for over, I think, a period of 3 years now.
And just recently, it started to decline over time.
So, not only was she under the 97th percentile.
She was kind of off the chart at that point and it was declining.
So, that's when we noticed that maybe we should look at doing something about it.
And, Doctor, this affects children not only physically but emotionally as well, right?
It does.
Obviously, being small sometimes can lead to teasing and that can be very difficult
for children.
But, also, growth hormone has a lot of important metabolic effects.
So, children with growth hormone deficiency, they don't develop as much lean muscle.
They develop more fat.
So they tend to be chubby in addition to being little.
They oftentimes look younger than their peers.
Right.
And it also has psychological effects.
It has effects on your brain, it affects your mood and your sense of well-being.
Emmy, you're just so adorable, let me just say.
Did you ever experience that part of it, being judged or teased on the playground or anything
like that?
Well, actually, really no.
Right.
But, people have said that I look much younger than I actually am.
So, Lisa, when did that light go off for you?
The light went off for me, you know, I started to notice she was much shorter than most of
her friends.
And that didn't bother me.
We were very mindful of it, and she was obviously aware of it also.
But about six months ago, she was declining her growth.
So, that's where we started to get concerned.
And over talking with the pediatric endocrinologist, she decided that this was the best thing.
This was the time.
Yeah.
Well, I'm so glad we're talking about this.
There are parents out there that are watching this that can relate.
The lightbulb is going to go off.
And when we come back, we'll discuss tests and evaluations.
Plus, we'll take a look at treatment options.
Stay with us.
(music).
Welcome back, everybody.
We've been discussing pediatric growth hormone deficiency.
A rare but treatable, I like that, treatable condition with Pediatric Endocrinologist,
Dr. Will Charlton of the pharmaceutical company, Versartis, and Lisa and Emmy Grace.
I'm just so glad they're here.
And I want to turn now and talk to you, Doctor, just quickly about diagnosis.
How do you make that?
Initially you're just monitoring your child's growth, and as Lisa talked about with Emmy,
if the rate of growth starts to decline, then at some point you start doing tests.
Initially you test for all sorts of things, nutritional deficiencies, kidney problems.
Right.
So you do a broad array of tests.
It's blood work.
And once you narrow it down and you think it might be growth hormone deficiency, there
are two primary diagnostic tests.
One is an x-ray of your wrist, and what you're doing in that case is you're looking at the
development of the bones and comparing it to bone development of other kids.
Kids with growth hormone deficiency tend to be slower to mature.
So we call it the bone age.
If your bone age is delayed, that's a clue.
Additionally, we will do something called the Growth Hormone Stimulation Test which
is not that much fun, huh? (laughter).
You actually have to get an IV, and then what we do is we give you a medication through
the IV that triggers growth hormone secretion from your brain, from your pituitary gland.
And then we wait a little while and we draw your blood and see how high your growth hormone
levels go.
Well, Lisa, I assume that Emmy had to go...She underwent these tests, right?
She absolutely did, and I do remember the first bone age, she had the bone age -- and
you can correct me if I have it wrong, but I think you had the bones of a six-year-old
when you were eight at the time.
So that was her first clear indication on that.
We then went and did, I want to say, an MRI and a stim test which is, as Dr. Charlton
mentioned, it was a full-day event.
Aw, Emmy, I'm so sorry.
She had to miss her first day of school which did not make her happy, but it was very important
to find out truly what was going on.
So, we did undergo everything that was recommended to us to find out.
Doctor, we mentioned that GHT is treatable.
What are the treatment options?
Well, right now, the treatment option is a daily injection.
So, we're basically replacing the growth hormone that your body's not making.
Lisa, if you could ask Dr. Will a question, what would your question be?
My question would be is there going to be a day where maybe there's not an injection
every day for your child?
Right now, Versartis is working on a longer acting growth hormone that will only require
a shot every other week.
Wow!
Would you love that, Emmy?
Yeah.
It would be better.
(laughter).
And how can we learn more about the clinical trials for your long acting form of growth
hormone, Somavaratan, Doctor?
Versartis has a website, VersartisTrials.com Okay.
And you can learn about all of the clinical trials being done in growth hormone currently
at ClinicalTrials.GOV.
And you know what?
Emmy, I'm not going to let you go until you...I heard you in the green room, singing the Cup
song?
Would you sing that song?
Of course.
Sure.
Okay!
Oh my gosh!
I didn't know if you were going to say yes.
Just give us a little bit of that.
(Singing) "I've got my ticket for the long way round.
The one with the prettiest of views.
It's got mountains, it's got rivers, it's got sights to give you shivers, and it sure
would be prettier with you.
When I'm gone.
You're gonna miss me when I'm gone.
You're gonna miss me by my hair, you're gonna miss me everywhere.
Oh, you're gonna miss me when I'm gone."
Oh my gosh!
(clapping).
Okay.
The Voice.
American Idol.
I can see...You have an amazing cool voice.
Thank you.
I love that.
Thank you so much for coming in.
This is such a great conversation that we had today.
So important.
And thank you for that song.
Thank you.
We're glad to share our experience.
Thank you for sharing your story.
And for more, you can visit us at TheBalancingAct.com.
(music).