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Video: Boy fights disease that turns muscle into bone

  1. Transcript of: Boy fights disease that turns muscle into bone

    JOE WITTE, announcer: TODAY'S HEALTH is brought to you by...

    ANN CURRY, anchor: This morning on TODAY'S HEALTH , a rare and crippling genetic disease that is literally turning one little boy 's muscle and tissue into bone. We're going to meet him in just a moment. You might be able to hear him just now, but first, NBC 's chief medical editor, Dr. Nancy Snyderman , has his story.

    Mr. DAVE SCOBLE (Josh's Father): Ready? I'd give up anything to either trade places with him or get a cure.

    Dr. NANCY SNYDERMAN reporting: The Scoble family is in a race against time.

    Ms. STACY SCOBLE (Josh's Mother): Eventually it'll take over his entire body and he won't be able to move.

    SNYDERMAN: Their three-year-old son, Josh , is battling a rare genetic disease known as FOP . It turns muscle into bone and people into human statues.

    Ms. SCOBLE: Here they come.

    Mr. JOSH SCOBLE: I got it!

    SNYDERMAN: Josh looked normal at birth but had deformed feet and hearing problems, the first signs that something was wrong.

    Ms. SCOBLE: I kept saying to myself, there's got to be something going on, and no one knew. We had no answers.

    SNYDERMAN: Then a lump formed on his back. Doctors were suspicious and made a fateful decision.

    Ms. SCOBLE: They had to cut open his entire back to remove the lump, which was the worst thing to do.

    SNYDERMAN: The lump was benign, but the trauma from the surgery led to mysterious bone growth , leaving Josh 's back fully fused together and ultimately leading to a diagnosis.

    Ms. SCOBLE: It was tough. It was -- it was real tough.

    SNYDERMAN: Now almost three years later the disease is progressing quickly. Any bruise, any injury, can cause more bone to grow, making a simple hug a tedious task.

    Ms. SCOBLE: He's getting to the point where it's harder for him to get his arms around our neck to give us a hug.

    SNYDERMAN: The Scobles do their best to protect Josh from injury, but loving him means letting him be a kid. Mr. J. SCOBLE : Hi! Hi! Hi! Woo-hoo! Mr. D. SCOBLE : As much time as he has left, I want him to enjoy it. I'd rather him look back and say well, I had fun, rather than my parents didn't let me do anything.

    SNYDERMAN: Each day spent with Josh is seen as a gift.

    Ms. SCOBLE: Slow down. Stop.

    SNYDERMAN: But there are daily reminders.

    Ms. SCOBLE: This morning he said to me, `Oh, Mommy , can you take the boo-boo off my neck?' So you know he's in pain, which makes that -- makes it really hard, hard to hear.

    Dr. SCOTT RICE (Pediatrician, Lehigh Valley Hospital): Is that sore there? Does that hurt? Mr. J. SCOBLE : Yeah.

    Dr. RICE: Yeah.

    SNYDERMAN: Painful swelling in Josh 's neck has his parents worried, prompting a trip to the pediatrician.

    Dr. RICE: Josh is an amazing young man, given all of the stuff he's had to go through, most of which is pain that I don't think any of us can probably understand.

    SNYDERMAN: While there is no known cure, recently scientists have discovered the gene linked to this condition.

    Dr. FREDERICK KAPLAN (University of Pennsylvania School of Medicine): It's going to take time to develop those very specific and very safe treatments that we can bring to Joshua and other children around the world, but in the meanwhile, education is a critical component.

    SNYDERMAN: The Scobles hold out hope that a cure will come and Josh will lead a long, healthy life. Mr. D. SCOBLE : He's the type of kid that when he smiles, everything's OK. He just makes everybody's life a little better, that's all.

    CURRY: And Josh is here along with his parents, Stacy and Dave Scoble . And there's that smile. And also Dr. Nancy is joining us also this morning.

    SNYDERMAN: Hi, Annie.

    CURRY: Good morning to all of you. Mr. D. SCOBLE : Hm.

    Ms. SCOBLE: Good morning.

    CURRY: You know, watching that tape, there were tears and joy because he kept looking at himself on TV and saying oh, oh, and responding... Mr. D. SCOBLE : Mm-hmm.

    CURRY: ...to it. It seems that this has been a heart-bending experience. How would you describe it for other parents who may be listening, Stacy ?

    Ms. SCOBLE: It's very difficult just to know that someday he might not be able to move completely. He's already slightly, well, I should say more than slightly, but he has limited mobility with his arms, so it's hard for him to reach his arms up. His entire back is fused. His neck movement...

    CURRY: And at the same time, you're joyful. When you looked at him, Dave , you were smiling at his joy in watching this. I mean, you want him to have... Mr. D. SCOBLE : He's a lot of fun.

    CURRY: Yeah. He's a......

    Ms. SCOBLE: Look at him. Mr. D. SCOBLE : He's tired.

    CURRY: Well, I don't blame him, we got him up early. And so this is actually quiet? Mr. D. SCOBLE : Mm-hmm. Oh, yeah...

    CURRY: You're saying normally he's even more exuberant. Mr. D. SCOBLE : Yeah, yeah, he's usually running around like a boy.

    CURRY: Yeah. This is a pretty rare genetic disease . It's -- there are what, something like 700 cases known worldwide.

    SNYDERMAN: It's very rare. And that's part of the problem because doctors really don't think about one in two million possibility. And where they are being seen at the University of Pennsylvania with Dr. Kaplan is really the epicenter in the country.

    CURRY: But BPS , I mean, if doctors don't diagnose this thing quickly, it can cause all kinds of unnecessary procedures, all kind of unnecessary pain. So what's the message in terms of this particular disease that doctors need to know?

    SNYDERMAN: Well, you know, as they found out, every little bump, every surgery, every idea that you should need to sort of biopsy something leads to this change in the tissue where it really becomes bone. And the concern is your body can become frozen with bone. So at birth, to look at those feet, and I think that foot deformity, while people might think it's something else and innocuous, that's really the first clue.

    CURRY: Hm . Mr. J. SCOBLE : Mommy , are you...

    SNYDERMAN: And doing nothing and being sort of benign approach to things is better than investigating too much. Mr. J. SCOBLE : Mommy , are you...

    Ms. SCOBLE: Right, right.

    SNYDERMAN: Would you agree?

    CURRY: What is Josh asking? Mr. D. SCOBLE : What's wrong? Mr. J. SCOBLE : That, Mom , that you?

    Ms. SCOBLE: Yes, that's me.

    CURRY: That's right, he's seeing himself on TV .

    SNYDERMAN: In all of these cameras.

    CURRY: I know, I know.

    Ms. SCOBLE: Yeah, really, the toes, when he was born, the toes actually, you know, there was a genetic doctor that walked in and walked -- back out crying almost...

    CURRY: Yeah.

    Ms. SCOBLE: ...because they realized that it was FOP . She knew.

    CURRY: FOP. And it was just...

    Ms. SCOBLE: So there's a lot of indication. Mr. D. SCOBLE : Yeah. We already had a surgeon then.

    CURRY: ...discovered in 2006 . And you have really been something because you guys are trying to raise money for research. You've raised $100,000 by hosting an annual bingo event for Josh ?

    Ms. SCOBLE: Yes. Mr. D. SCOBLE : Our sister-in-law started it.

    CURRY: It's amazing.

    Ms. SCOBLE: My sister. Mr. D. SCOBLE : Oh, her sister.

    SNYDERMAN: It's a very tight-knit community.

    Ms. SCOBLE: Yes.

    SNYDERMAN: These families tend to find each other. And because it's such a rare niche disease, you know, the concern is always will they get the funding for the research and how will it go forward? So these parents and patients tend to find each other. It's a very committed group. And fortunately, a really great doctor who has helped spearhead this.

By
TODAY contributor
updated 10/15/2009 10:12:12 AM ET 2009-10-15T14:12:12

He’s a 3-year-old boy who enjoys the things every kid his age loves — riding his bike and scooter, playing football in the front yard with his dad, wrapping his arms around his parents to share a hug.

And Josh Scoble’s parents let him do all those things — even though they know that any bump or bruise he suffers can bring him closer to the inevitable day when he is imprisoned by his own body, his flesh literally turned to bone, his arms and legs and head and even his jaw locked in immobility.

“Eventually it will take over his entire body and he won’t be able to move,” Josh’s mom, Stacy Scoble, said in a heartrending report that aired on TODAY Thursday.

Rare but deadly
Josh has an extremely rare genetic condition called fibrodysplasia ossificans progressiva, or FOP. There are only about 700 confirmed cases worldwide — about one in every 2 million births. The condition, which causes bone to form from soft tissue, ultimately confines its victims to permanent immobility before taking their lives, usually by the victims’ 40s.

“Every little bump, every surgery leads to this change in the tissue where it really becomes bone,” Dr. Nancy Snyderman, NBC’s chief medical editor, told TODAY’s Ann Curry as Josh snuggled against his mom in the show’s New York studio. “The concern is that your body can become frozen with bone.”

Although aware of the dangers from bumps and bruises, Josh’s dad, Dave Scoble, told NBC News that he allows the boy to play and be as normal as possible while he can still move around.

“As much time as he has left, I want him to know joy,” Dave Scoble said. “I’d rather have him look back and say, ‘I had fun,’ rather than ‘My parents didn’t let me do anything.’ ”

A bad mistake
Stacy Scoble and her husband, Dave, knew something was wrong as soon as Josh was born. His big toes were deformed and he had hearing problems. These are symptoms of FOP — but the condition is so rare that his pediatricians didn’t immediately recognize them.

At about 3 weeks of age, Josh developed a fever and doctors performed a spinal tap to rule out sepsis. The spinal tap caused a tumor to form. Fearing it was cancerous, doctors opened up his back to perform a biopsy.

TODAY
Tissue in Josh’s back is turning into bone, causing it to become rigid.
It was the worst thing they could have done. The surgery prompted Josh’s body to turn tissue in his back to bone, fusing his back rigid.

Since then, Josh’s body has slowly continued to turn against him. He can still run and play, but he has trouble lifting his arms and recently he has begun to have difficulty moving his neck.

“It’s very difficult to know he might not be able to move completely,” Stacy Scoble told Curry. “It’s hard for him to reach his arms up. His entire back is fused.”

All boy
Tired from having gotten up so early to be on the show, Josh yawned and lazed against his mom, behavior that his dad said was unusual.

TODAY
Josh’s parents are trying to give him as normal a childhood as possible, even though they know that any bruise can hasten the progression of his disease.
“He’s usually running around — like a boy,” Dave Scoble said. “He’s the type of kid that when he smiles, everything’s OK. He just makes everybody’s life a little better.”

While the Scobles try to get as much out of every day with Josh as possible, they are also working to raise awareness about FOB. For the past two years, they’ve held an annual bingo fundraiser that has brought in $100,000 for research, almost all of which is taking place at the University of Pennsylvania.

But it’s a race against time for Josh and others like him. “It’s going to take time to develop those very specific and very safe treatments that we can bring to Joshua and other children around the world,” Dr. Frederick Kaplan, who heads the university’s FOP program, told NBC News.

TODAY
Josh’s parents, Dave and Stacy Scoble, are cherishing every moment they have with the lively 3-year-old.
In the meantime, Josh soldiers on. His pediatrician, Dr. Scott Rice, remains inspired by the boy.

“Josh is an amazing young man, given all the stuff he’s had to go through, most of which is pain that I don’t think any of us can probably understand,” Rice said.

As for the Scobles, not knowing what the future holds, they are are cherishing every moment with their son.

“He’s getting to the point where it’s hard for him to get his arms around our neck to give us a hug,” his mom said.

For more information about Josh and how you can donate to efforts to find a cure for FOP, the disease that is turning his muscles to bone, visit BingoForACure.com.

© 2013 NBCNews.com  Reprints

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