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Like many young boys his age, 7-year-old Jackson Dunn-Kraus has many interests and he loves
hanging out with his twin sister.
His parents say he is a funny kid and likes to laugh.
This, despite his medical condition, Jackson has a rare, serious, and progressive genetic
disorder that affects mostly boys.
Jackson has Hunter Syndrome, the topic of today's discussion on this Rare Disease Day.
Our guests this morning, Dr. Barbara Burton, a Professor of Pediatrics at Northwestern
University, and Dr. David Molter, a Professor of Otolaryngology Washington University School
of Medicine at St. Louis.
And we're going to meet Jackson and his mother a little bit later in the show.
Good morning to both of you.
Good morning.
Thank you so much for being here.
Dr. Burton, let me start with you and let's talk about Hunter Syndrome.
What exactly is it?
Hunter Syndrome, also referred to as mucopolysaccharidosis or MPS type 2 is a rare genetic disorder that
affects males almost exclusively.
It is estimated to occur in about 1 in every 162,000 births.
It's a serious and progressive condition for which we currently have no cure.
And let's talk about, Doctor, the physical symptoms that maybe a parent notices.
When do they become noticeable?
What happens?
Well, typically a baby with Hunter Syndrome appears healthy at birth, but then at some
point in the early years of life symptoms begin to develop in multiple organ systems.
There can be recurrent respiratory and ear infections.
We see changes in the facial features called coarsening resulting in thick lips, broad
nose, large tongue.
We also see an enlarged abdomen from enlargement of the liver and spleen.
There can be chronic or recurrent diarrhea.
Hernias are quite common, and we see progressive symptoms in the skeleton and in the joints,
particularly progressive stiffness of the joints.
Dr. Molter, I want to bring you into the conversation, and I do want our viewers to know that you
are a Otolaryngologist, which is also known as an ENT Specialist: Ears, Nose, Throat.
Do you see any common threads between let's say a baby that's born healthy and then obviously
then symptoms occur?
Common threads between both?
Certainly.
Well as an Ear Nose and Throat Specialist, we see things ear, nose, throat, and dental.
And so often this begins with a course of recurring ear infections which may lead to
placement of tubes, sinus infections, upper respiratory infections, and changes in the
facial features.
We may see coarsening of the tongue, enlargements of the tonsils or adenoids, and may see some
changes in the teeth which are often described as being peg-like.
Well, these symptoms by themselves are certainly not a red flag and are common experiences
with childhood.
It's when they're associated with other findings such as a hernia or the coarsening of the
facial features that should begin to raise a red flag for Hunter's.
Dr. Burton?
Exactly.
I think when you see multiple medical issues in the same child, that's when you want to
see if there's a common thread or diagnosis that would explain all of those.
And so a Pediatrician or an ENT Doctor might get suspicious, and then a Specialist like
myself, a Geneticists, can recognize the combination, order the appropriate diagnostic tests, and
make a diagnosis.
And Dr. Molter, for parents out there who may be experiencing this, they don't know
what's going on, they're going from doctor to doctor.
It can be extremely frustrating.
It is their child.
What would you say in terms of maybe educating them and helping them so they can find the
answers they need?
Well, it certainly is challenging.
It's when you find that you're reaching challenges outside of the norm that referral to a Geneticist
would be appropriate.
Alright, Dr. Molter, I know you have to get going.
Dr. Burton, you're going to stick around.
Thank you so much, Dr.Molter, for being here this morning.
Because when we come back, we're going to meet Jackson and his mother, a very special
boy.
And we're going to share their story with you.
So stay with us.
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Welcome back, everyone.
We've been discussing a serious progressive genetic disorder called Hunter Syndrome.
And joining us now are Carrie Dunn and her 7-year-old son, Jackson Dunn-Kraus who has
this disorder.
Good morning to both of you.
Good morning.
Thank you for having us.
Oh, thanks for being here.
Doctor, before I speak to this lovely young man, let's talk about Hunter Syndrome.
Now, we talked about two forms: mild and severe.
Which one does Jackson have?
Jackson has a mild or perhaps intermediate form of the disorder where there's little
or no involvement of the brain.
Many patients with Hunter Syndrome have the severe form where the brain is more extensively
involved and we see more severe developmental delay or loss of developmental skills.
Now Jackson, I hear you're seven.
When are you going to be 8-years-old?
On April.
What day in April?
Umm…
April 28th?
Oh!
April 28th.
Oh, special day.
And what grade are you in?
2nd grade.
And somebody told me this morning that you love school?
What's your favorite subject?
Science and recess.
Perfect.
We study for a little while and then we go play.
I love that answer.
Definitely.
Carrie, let's talk about Jackson.
Tell me what happened.
Obviously from what I've been learning here, he was born and everything seemed healthy
at the beginning.
That's a great question.
When Jackson was first coming to us, we realized that we were having twins.
So I was followed by a high-risk pregnancy physician.
When he was born, he spent some time right away in the NICU because of a collapsed lung.
So, he was having some distress, pulmonary issues, and he spent some there and then they
handed us our healthy baby and said, "Go enjoy the twins."
And Sydney was growing a little bit faster and gaining her milestones a little bit earlier.
Jackson was showing some signs early on that distressed us a little bit in that he had
a large distended belly.
His skin was extremely taut.
He was crawling, what we'd like to call, commando crawl where his sister started walking.
And still you didn't know?
We didn't know.
But we did seek the advice of numerous physicians and we started therapies early on.
Jackson started with occupational therapy, developmental therapy, speech therapy, sensory,
feeding therapy, a little bit of everything, and this was all before he was three.
And when was he finally diagnosed?
Right after his third birthday.
We had gotten a recommendation to see a Geneticist and as we went into the Geneticist's appointment,
she discovered a hernia right away.
So, the red flag was he has a hernia, the large distended belly.
His face was a little bit larger than most boys his age.
The Geneticist recommended that we see a metabolism specialist right away, and we were able to
go into that appointment and the doctor looked at us and said, "I know what your son has.
He has something called Hunter Syndrome, otherwise knowns as MPS II.
And your reaction at that moment?
I was happy that I had a diagnosis.
I was thinking that.
But I was devastated to know that my son would suffer for a while with many different ailments,
but as you can see, he's doing great.
He's a typical 7-year-old and he's having a lot of fun.
But the road is a long road.
And Doctor, let's talk about that road.
Three years to get a diagnosis, three years of a mother knowing something's not right
here.
She gets the diagnosis.
Is Jackson's history typical for patients with Hunter Syndrome?
Well, unfortunately it is typical that a patient sees multiple physicians, many doctor visits
for a lot of different complaints until they finally get that diagnosis.
The specific combination of findings varies quite a bit from child to child.
But certainly that diagnostic odyssey of searching for a diagnosis is a very very common phenomenon.
And Carrie, obviously you're here today because we need to create that awareness and educate
others about this Hunter Syndrome.
Support groups?
Did they help you also once you got that diagnosis?
Most definitely.
The support of your family and friends is very important, but then we reached out right
after that appointment and we found a connection through the National MPS Society.
They were a great resource for families just to learn about the disease, but also to help
you in this journey that you're taking.
The website for that is www.MPSSociety.org, and just a tremendous amount of help for us
a family.
And Doctor, what advice would you give to parents out there who may suspect that maybe
their child has Hunter Syndrome?
Well, if there are multiple medical issues like we've been discussing, I would recommend
they talk to their Pediatrician and seek consultation from a specialist like a Geneticist.
Early diagnosis is so terribly important to ensure that a child gets the appropriate medical
care.
And do you have a websites for our viewers to learn more about it?
Medical information is available at a website called HunterPatients.com.
HunterPatients.com?
Yes.
Carrie, for anyone out there who may be experiencing this or may not know, what would you say?
I would say please just follow your gut.
Go with your instincts.
You know, as a parent, that if something is just not right, search until you find the
answer.
Thank you so much for your time and for the education you've given us this morning.
Carrie, thank you so much for bringing your son and sharing his story.
Jackson, thank you so much.
Do you get along with your sister?
That's good, too.
Thank you.
God bless you.
Thank you, Carrie.
Bye Jackson.
Thank you.
And for more information on managing Hunter Syndrome, please visit HunterPatients.com
or our website, TheBalancingAct.com.
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