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All About NOMID by Quinn Paduani.
NOMID gives me headaches.
NOMID gives me fevers.
NOMID gives me lots of rashes.
NOMID makes me tired.
NOMID makes me brave.
When it comes to the disease you just heard about, approximately 100 people have been
affected by this disorder worldwide.
And that makes my next guest very very very special.
And here to share more on this ultra rare disease is 8-year-old Quinn Paduani.
I got that right, right?
And her mom, Colleen.
Quinn, you were about 6-years-old in that video that we just saw, and how are you doing
today?
I'm doing great.
You're doing great!
You look great.
And why was it important for you to come on TV today with your mom?
Well, because I want to help children so they can stay healthy just like me.
Oh my gosh.
That's so important.
I'm so glad you came on my show today.
And Colleen, when did it all start with Quinn and what were the first signs that something
just wasn't right?
Well, apart from being born prematurely, she presented with rash and fever a few days after
birth.
Those were the first signs that there was something off with her.
But the doctors at that point weren't sure.
They had no idea what she had.
And shortly after, it became apparent that she was suffering and having pain.
But I understand it was a year before she was diagnosed correctly.
Is that right?
That's true.
It took a year and it took a lot of different specialists.
Big process of elimination to get the diagnosis.
What was it like to hear that diagnosis, like 1 in a million chance, and did it make you
think about your other kids?
I don't recall feeling upset receiving the diagnosis.
There was more a sense of relief that it's nothing that I could've done differently that
would've changed the outcome.
And although those odds are pretty slim, why not my daughter?
You know?
None of us are above disease or illness.
But with the diagnosis came information, and that was very empowering.
Well knowledge is really power, right?
Sure.
Yeah.
And it also put us on the path to getting her well again.
At the time, I just had my older son.
The little one didn't come along until later.
But I didn't worry.
I knew it was a spontaneous genetic mutation, and Quinn really truly was 1 in a million.
Oh my gosh.
You are 1 in a million.
We're so glad you're here.
And as you can see that Quinn is an active 8-year-old who was just running around the
studio.
And you're just feeling really good at eight, right?
Yes, ma'am.
Oh, she's so cute.
See, I'm from the south.
I love when people say yes ma'am.
That means a lot to me.
And we're going to learn more about NOMID from Quinn and her doctor.
So I want you to stay right there.
You're staying right here with us, right?
Alright.
Don't go away.
We'll be right back.
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Welcome back to a very special Behind The Mystery, and we're joined by a very very very
special young lady.
Quinn is back with us on the set.
How are you?
I'm great!
And her mom, Colleen.
We're also joined now by Dr. Philip Kahn, Pediatric Rheumatologist and NOMID Specialist.
Doctor, before the break, we were talking with Colleen and she told us about the symptoms
of NOMID.
I mean, tell us basically what NOMID is.
So NOMID is one disease that's part of a larger group of diseases called auto inflammatory
syndromes.
NOMID itself stands for Neonatal Onset Multi-system Inflammatory Disease.
Doctor, 1 in a million, and I read that there are only 40 US patients in the entire country
right now with NOMID.
Is that correct?
Yes.
Around 40.
And because the diagnostic symptoms are so important, let's go over that again.
What are they, doctor?
So, NOMID includes a constellation of symptoms starting from head to toe.
Of course, as you can see with Quinn, she never had the majority of these symptoms,
but from head to toe these patients can have meningitis, they can have inflammation of
their eyes called uveitis, they can have hearing loss, learning delay.
They can have various different problems with their liver, rash, swollen glands.
And one of the things that they can have from across the room is they can have these boney
overgrowth of their knees and of their elbows.
Most predominately if this disease is not treated promptly.
Is there a diagnostic test for NOMID today?
Well, fortunately nowadays there's genetic testing.
But this is still a work in progress.
But it's a clinical diagnosis to start with which is confirmed with genetic testing.
Okay.
And Quinn, is that the big reason you came here today, to just get the word out there?
Yes, ma'am.
So that's been a big important thing for you, Colleen, right?
Getting the word out there, sharing your story.
Sure, absolutely.
So about a year after her diagnosis for her second birthday we held our first fundraiser,
A Walk In The Park, where friends and family and members of the FDNY at the time came out
to support the cause and raise some awareness.
Dr. Kahn is also kind enough to invite us to his own Rheumatology Conference every year,
and the past 3 years Quinn's come along with me.
And that helps raise awareness amongst health professionals.
Which is so important.
You've got to get these doctors out there to realize what's going on.
And you do one more fun thing, I think, around the holidays?
We do.
Our friends and neighbors in our old neighborhood do Caroling For Cures.
And what is your favorite Christmas carol?
What do you like to sing?
Frosty.
Frosty The Snowman?
Oh my gosh.
That's one of my favorites.
That's so great.
Tell me about some of your hobbies.
What do you like to do?
I like to swim.
You like to swim?
I like to dance.
Oh!
Dance.
And I like to draw.
Wow!
As we can see, Quinn is living with NOMID, and a lot of that is because of the treatment
options that are available today, right?
Yeah.
We have to cycle through several different treatment options with Quinn, and then ultimately
found the right fit for her.
And she's doing wonderfully.
And Colleen, how soon after her diagnosis did you start seeing results?
Very shortly after.
Really?
Yes.
I feel like once Quinn began treatment of her disease, it was almost a child that we
had not seen up until that point.
Oh man, that is such good news.
Of course, that was wonderful for any parent.
Oh, well it was so special having you all in the studio today.
And there are a host of great resources for the families out there dealing with NOMID
and other rare disease including RareDiseases.Org and the AutoInflammatory Alliance or AutoInflammatory.Org.
Thanks for coming in the studio.
Will you come back and visit me?
Yes, ma'am.
Okay.
I would love that.
And of course, you can logon to TheBalancingAct.com for more information about NOMID, and don't
forget to follow us on Facebook and Twitter.
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