Cord blood transplant saves boy, 6, from baffling ailment

Video: Cord blood transplant saves boy, 6, from rare illness

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2. Transcript of: Cord blood transplant saves boy, 6, from rare illness

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   MATT LAUER, co-host: Back now at 8:09. This morning on TODAY'S HEALTH , a medical marvel. A six-year-old boy who suffered for years from a rare genetic disease finally able to get the help he needs. We're going to meet him and his parents in a moment, but first here's NBC 's chief science correspondent Robert Bazell .

   ROBERT BAZELL reporting: To look at six-year-old Nic Volker , you might never guess he had been close to death hundreds of times and the struggle to save him will be a milestone in medical history . His mother, Amylynne Santiago Volker , says he is always upbeat.

   Ms. AMYLYNNE SANTIAGO VOLKER: He loves his mom and his dad with all his heart. He's such a loving little boy .

   BAZELL: Nic was 17 months old when the first sign of trouble struck, a wound that would not heal. Over time , mom realized he faced a life-threatening condition.

   Ms. VOLKER: Six to eight months after his first hospitalization, at that point he was down to 17 pounds and he was always having pain.

   BAZELL: At first, doctors thought Nic suffered Crohn's disease , an autoimmune disorder of the intestine. Surgeons removed his colon, but Nic continued to deteriorate. Last March, Dr. Alan Mayer , a pediatric intestinal specialist at Children's Hospital of Wisconsin , took charge of the team handling the case, but they had little success.

   Dr. ALAN MAYER: We were never able to get his inflammation under control.

   BAZELL: Dr. Mayer and others consulted with experts around the world, everyone was stumped and thought Nic would die without a diagnosis. The doctors were so perplexed by the case that they made an unusual and

   desperate request: Could the scientists here at the Medical College of Wisconsin sequence the some 30,000 genes in the boy's body to find out if one was mutated?

   Dr. HOWARD JACOBS: I was shocked. It's a big leap from what we were currently doing.

   BAZELL: Howard Jacobs and the medical genetics team had only done basic research , they never looked for a disease in an individual. Mom was certainly on board.

   Ms. VOLKER: I thought, 'Let's do it. We need to find a diagnosis.'

   Dr. JACOBS: It came from being a shocking request to 'We need to do this.'

   BAZELL: They found that Nic has a defect in a gene called XIAP , a condition known to affect only a handful of others in the world. The treatment was a cord blood transplant to give him a new immune system. There were many frightening complications, but Nic pulled through.

   Ms. VOLKER: You know, he's the comeback kid because I don't know how many times -- over 100 times we've been told that Nic , you know, wouldn't make it to the next hour, the next day, the next month, the next year.

   BAZELL: And because gene sequencing is becoming ever cheaper and easier, the doctors think Nic 's case is a crucial beginning of a new era of medicine. For TODAY, Robert Bazell , NBC News, Milwaukee.

   LAUER: Six-year-old Nicholas is with us now, along with his parents, Amylynne Santiago Volker and Sean Volker . Good morning to all of you. It's nice to see you. And happy holidays.

   Ms. VOLKER: Good morning, Matt.

   Mr. SEAN VOLKER: Good morning.

   Ms. VOLKER: Thank you.

   LAUER: Amy , let me just make sure people understand the scope of this, you know, we've got a six-year-old boy here who has spent more than 700 days of his life in a hospital, 526 of those just since January of 2009 . It's hard to imagine an adult being able to endure this, how did a little boy endure it?

   Ms. VOLKER: Well, amazingly, Matt , Nic is so resilient and always faced every day with a smile on his face.

   LAUER: You have had to brace yourself on a number of occasions, Amylynne , for the worst, and I know you've had relatives come to you at some point during this ordeal and say, 'You've got to plan a funeral, you have to sign a do-not-resuscitate order,' you always refused to take those steps; why?

   Ms. VOLKER: Well, Matt , I relied on my faith and I had on -- to -- I had to hold on to hope. Always trying to just persevere and get through the next step and just hope that there was another miracle.

   LAUER: There were times where things looked up even for a brief amount of time. I know after they removed Nicholas ' colon that he did improve for a little while , isn't that correct?

   Ms. VOLKER: That is true. After they removed his colon, Nic was able to walk and run around and actually climb for the very first time in his life.

   LAUER: And then it took a turn for the worse again. When doctors talked to you about requesting DNA sequencing , Amylynne , did you even know what DNA sequencing was?

   Ms. VOLKER: I was a little familiar with it. I had read -- I'd done, you know, some research looking for the diagnosis for Nic over the years and so I had done some research and looked at the Web site at NIH , so I knew a little bit about it, but, you know, not all the technical stuff.

   LAUER: A little more than five months ago Nicholas underwent a cord blood transplant; how difficult a process was it and how quickly after that procedure did you begin to see real improvement?

   Ms. VOLKER: I'm sorry, could you say that again?

   LAUER: I'm just asking after the cord blood transplant, how quickly did you begin to see real improvement?

   Ms. VOLKER: Actually, after -- directly after the cord transplant, we saw improvement in the first two weeks, actually he was extremely active, played like a normal little boy would, had lots of sword fights and lots of floor time with his sisters and his dad and myself. But he did suffer a lot of complications thereafter.

   LAUER: Well, what's the prognosis now, Amylynne ? What are doctors telling you?

   Ms. VOLKER: His prognosis is extremely good. His bone marrow transplant physician, Dr. Margolis , thinks that he will be a long-term survivor and that he is possibly cured.

   LAUER: That's just unbelievable news, and we hope for that to be true. And, Amylynne , thank you, Sean , for joining us, we thank you. And, Nicholas , you know, happy holiday to all of you.

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