Race Against Time
The parents are told that their child will die -- that there is no hope, and never has been, for a child with this kind of disease.
The diseases are genetic disorders that go by strange names-- Krebbe disease, purine nucleoside phosphorylase deficiency, or something called Sanfilippo.
They're diseases that children are born with. A child is missing one vital gene or another in their blood. Often, they seem healthy at first, but as they grow older, they start a rapid descent, which has always been fatal, until now.
Dr. Joanne Kurtzberg, a pioneering doctor at Duke University in North Carolina, is saving many of these kids. Her approach has its critics, and some say she doesn't have the science to justify all the diseases she's trying to treat. And not even she can tell you exactly how the treatment works—science doesn't understand it.
But, this she knows: Many children who would surely be dead are now living nearly normal lives.
Dr. Kurtzberg is forever in motion, pushing through the halls of the clinic she runs at Duke University. Her clinic is overflowing with young patients who come from all over the world with strange sounding diseases and grim diagnosis.
"The families that come here all have children who've been told they have a fatal disease generally within a short period of time," says Kurtzberg. "We get a lot of families like that and many of these children can be helped."
They call her "Dr. K." And they adore her. For them, she is an angel in overalls
Many of her patients have been given up by other doctors as hopeless cases. But word of her willingness to try has spread. She receives about 200 emails a day, and 10-20 new calls for help each day.
"I've had email from children, teenagers who email and say, 'I have leukemia and they've told me I have no hope. Can you help me?' I get emails in languages I can't read," says Kurtzberg.
"There are a lot of rare diseases, particularly genetic diseases, that are very uncommon. But I usually can find somebody who knows more about it. And that's what I try to do."
One-year-old Jamison Dancey has something called purine nucleoside phosphorylase deficiency. He's been under treatment for months.
One-year-old Garret Humphrey has giant cell auto immune hepatitis.
While the diseases here have different names, most of them are caused by the same problem. The children are born with blood that lacks one vital gene or another. It might be a gene that (allows the body to break down sugars)for example or a gene that….( ) with out it the body breaks down over time.
The body's machinery for making blood is in the bone marrow. Kurtzberg uses chemotherapy to destroy the defective bone marrow in her patients. Then she infuses her patient with stem cells. Stem cells are the cells in every human embryo that have the miraculous ability to turn themselves into any kind of tissue. She gets her stem cells from donated umbilical cords.
Somehow, in Dr. K's patients, the stem cells recognize the lack of bone marrow, turn themselves into bone marrow cells and begin creating new blood with all the proper genes.
"The cells for reasons we don't understand home back to the bone marrow, to the center of the bones where they start forming new blood cells, and that process takes about a month," says Kurtzberg.
"They know where to go, but we don't know how they know where to go. But they go back to the bone. And if you look a few minutes after you've infused cells, you won't find them in the blood anymore."
The disease is stopped in its tracks. But there is one big limitation. The damage that's already been done over time cannot be reversed.
For Kurtzberg's patients, it's a race. Children who are four or six years old can be too old to be helped. Newborns, on the other hand, can be cured and live a normal life.
Kurtzberg transplanted stem cells into Jeremy Thoms when he was 29 days old. Jeremy was born with Krebbe Disease, a disease usually fatal by age two. He's number one on her list of success cases.
Jeremy is now two years old, the age when other doctors expected him to be dead. He appears to be normal in every way, and cured of Krebbe Disease.
Kurtzberg says she has treated 60 rare genetic diseases successfully. Still, transplants are risky and Kurtzberg says she can't guarantee they will work.
Many insurance companies, however, refuse to pay for the procedure, because they say Kurtzberg has not proven its effectiveness for every illness she treats. To do that she would need clinical trials that could take years for each of them.
"I say all transplantation medicine is experimental," says Kurtzberg. "But that's also the standard of care, and when you have rare diseases, it takes longer to prove that something's going to work. But if you wait, you're going to allow many children not to potentially benefit from a treatment that looks promising."
And she's not prepared to wait, since waiting can be fatal.
Nothing illustrates that more than the story of the Bennett family. John and Alicia Bennett's daughter, Sierra, is 7-years old. She was a healthy child until the age of three. Then she stopped talking.
"These doctors kept telling us, well she's got some hearing loss. When she gets a little older we'll get the hearing aids," says Sierra's father, John. "We'll correct it. Everything will be fine. Don't worry about it."
In the meantime, the Bennetts had two boys. Sierra continued to worsen and was finally diagnosed with Sanfilippo syndrome, a fatal genetic disease. After that, the Bennett's had their two apparently healthy boys tested.
"The test came back on February 11th of this year," says John. "And that was the worst day of our life."
Their sons, 4-year old hunter and 3-year old Tommy also inherited Sanfilippo.
"Unfortunately with this disease, it won't show itself in the first few years of a child's life so that you know young families having children every few years may not realize that they are even at risk until their oldest child, as in the case with the Bennett's, is diagnosed," says Kurtzberg.
Sanfilippo shows itself in progressive brain damage. Children who've learned to walk, talk and play lose those gifts and descend to paralysis and death.
By the time the Bennetts arrived at duke, Sierra was severely ill. But they have great hopes for the boys. Tommy, the youngest, is ______________________. Hunter, a year older ______________________.
(janet i'd like a little sketch of the two boys here, what do they like to do, what have they done. We'll care more when the decision is made if we fill in the portrait now)
"There's nothing you can do. There's a steady march that you can't stop," say John Bennett, who says that at her peak, Sierra could do anything.
"She was just a normal little girl," remembers John. "She was almost completely normal. I have a picture of her standing on a chair in the kitchen making cupcakes."
"I miss that little girl," says mother Alicia.
But Kurtzberg believes the stem cell transplant will work because it works in similar diseases.
"We have good scientific reason to think it will work."
Unfortunately, Sierra's disease has gone too far. The damage is permanent. But there may still be time to save her brothers. They're being tested to see how much brain damage there is already.
These are the most important tests the boys will ever take. If they pass they may live, if not, they will surely die.
Imagine answering questions that may well determine whether your son will live.
It's decision day and Kurtzberg has come to a decision about Tommy, the youngest.
"We would be willing to go ahead and transplant him, ok," she says.
But a different decision has been reached about Hunter. "Hunter's testing is worse that Tommy's and I mean you know that his MRI shows a lot of damage," says Kurtzberg.
"I worried that the transplant isn't going to help him and that it will be very difficult for him to get thru. And I wouldn't recommend that we do a transplant for him."
The Bennetts came into that meeting really wanting Hunter to be part of the program. Hoping against hope. But Kurtzberg, in all good conscience, says she could not give them that hope.
It's a tough message to have to deliver to families who have come to her as the doctor of last resort.
"Yeah, that's a hard position to fill. And I think a lot of times families want me to have superhuman powers," says Kurtzberg. "And I wish I did but I have to be honest with them."
"It wouldn't be beneficial to him [Hunter] to put him through that," says Hunter's father, John. "We decided to just let him have the time he has left."
They are sure, however, about Tommy.
"We have no other choice," says Alicia, Tommy's mother. "I'm not going to lose all three of them."
"Tommy, in a year, will probably be as sick as Hunter is now," says Kurtzberg. "And we hope to prevent that by intervening now."
Ten days later, it's the day the Bennett family has been waiting for. Tommy gets the new cells.
"I've been calling it his re-birthday, because he's going to be born again today," says mother Alicia. "He gets a new life from today on."
The donor cells are given intravenously, and Tommy barely notices. The entire process takes less than 30 minutes. Now it's up to the cells to find a home in Tommy's body and grow. (grow cells grow sign).
Tommy is on chemotherapy so his immune system won't reject his new cells. While most kids get very sick from the drugs, Tommy defied the odds, escaping without serious side effects. He did lose his hair but not his spirit.
Several weeks later, Tommy has defied the odds again. According to Kurtzberg, in about one case out of a hundred, the donor cells with the needed protein do not take root and grow. It turns out that Tommy was that case.
"The first one didn't work," says mother Alicia. "He came back showing no donor cells, so now we're in Round Two."
Dr Kurtzberg and the Bennetts decided to try a second transplant. This time, the chemotherapy takes a toll on Tommy's health.
Copyright 2009 CBS. All rights reserved. The diseases are genetic disorders that go by strange names-- Krebbe disease, purine nucleoside phosphorylase deficiency, or something called Sanfilippo.
They're diseases that children are born with. A child is missing one vital gene or another in their blood. Often, they seem healthy at first, but as they grow older, they start a rapid descent, which has always been fatal, until now.
Dr. Joanne Kurtzberg, a pioneering doctor at Duke University in North Carolina, is saving many of these kids. Her approach has its critics, and some say she doesn't have the science to justify all the diseases she's trying to treat. And not even she can tell you exactly how the treatment works—science doesn't understand it.
But, this she knows: Many children who would surely be dead are now living nearly normal lives.
Dr. Kurtzberg is forever in motion, pushing through the halls of the clinic she runs at Duke University. Her clinic is overflowing with young patients who come from all over the world with strange sounding diseases and grim diagnosis.
"The families that come here all have children who've been told they have a fatal disease generally within a short period of time," says Kurtzberg. "We get a lot of families like that and many of these children can be helped."
They call her "Dr. K." And they adore her. For them, she is an angel in overalls
Many of her patients have been given up by other doctors as hopeless cases. But word of her willingness to try has spread. She receives about 200 emails a day, and 10-20 new calls for help each day.
"I've had email from children, teenagers who email and say, 'I have leukemia and they've told me I have no hope. Can you help me?' I get emails in languages I can't read," says Kurtzberg.
"There are a lot of rare diseases, particularly genetic diseases, that are very uncommon. But I usually can find somebody who knows more about it. And that's what I try to do."
One-year-old Jamison Dancey has something called purine nucleoside phosphorylase deficiency. He's been under treatment for months.
One-year-old Garret Humphrey has giant cell auto immune hepatitis.
While the diseases here have different names, most of them are caused by the same problem. The children are born with blood that lacks one vital gene or another. It might be a gene that (allows the body to break down sugars)for example or a gene that….( ) with out it the body breaks down over time.
The body's machinery for making blood is in the bone marrow. Kurtzberg uses chemotherapy to destroy the defective bone marrow in her patients. Then she infuses her patient with stem cells. Stem cells are the cells in every human embryo that have the miraculous ability to turn themselves into any kind of tissue. She gets her stem cells from donated umbilical cords.
Somehow, in Dr. K's patients, the stem cells recognize the lack of bone marrow, turn themselves into bone marrow cells and begin creating new blood with all the proper genes.
"The cells for reasons we don't understand home back to the bone marrow, to the center of the bones where they start forming new blood cells, and that process takes about a month," says Kurtzberg.
"They know where to go, but we don't know how they know where to go. But they go back to the bone. And if you look a few minutes after you've infused cells, you won't find them in the blood anymore."
The disease is stopped in its tracks. But there is one big limitation. The damage that's already been done over time cannot be reversed.
For Kurtzberg's patients, it's a race. Children who are four or six years old can be too old to be helped. Newborns, on the other hand, can be cured and live a normal life.
Kurtzberg transplanted stem cells into Jeremy Thoms when he was 29 days old. Jeremy was born with Krebbe Disease, a disease usually fatal by age two. He's number one on her list of success cases.
Jeremy is now two years old, the age when other doctors expected him to be dead. He appears to be normal in every way, and cured of Krebbe Disease.
Kurtzberg says she has treated 60 rare genetic diseases successfully. Still, transplants are risky and Kurtzberg says she can't guarantee they will work.
Many insurance companies, however, refuse to pay for the procedure, because they say Kurtzberg has not proven its effectiveness for every illness she treats. To do that she would need clinical trials that could take years for each of them.
"I say all transplantation medicine is experimental," says Kurtzberg. "But that's also the standard of care, and when you have rare diseases, it takes longer to prove that something's going to work. But if you wait, you're going to allow many children not to potentially benefit from a treatment that looks promising."
And she's not prepared to wait, since waiting can be fatal.
Nothing illustrates that more than the story of the Bennett family. John and Alicia Bennett's daughter, Sierra, is 7-years old. She was a healthy child until the age of three. Then she stopped talking.
"These doctors kept telling us, well she's got some hearing loss. When she gets a little older we'll get the hearing aids," says Sierra's father, John. "We'll correct it. Everything will be fine. Don't worry about it."
In the meantime, the Bennetts had two boys. Sierra continued to worsen and was finally diagnosed with Sanfilippo syndrome, a fatal genetic disease. After that, the Bennett's had their two apparently healthy boys tested.
"The test came back on February 11th of this year," says John. "And that was the worst day of our life."
Their sons, 4-year old hunter and 3-year old Tommy also inherited Sanfilippo.
"Unfortunately with this disease, it won't show itself in the first few years of a child's life so that you know young families having children every few years may not realize that they are even at risk until their oldest child, as in the case with the Bennett's, is diagnosed," says Kurtzberg.
Sanfilippo shows itself in progressive brain damage. Children who've learned to walk, talk and play lose those gifts and descend to paralysis and death.
By the time the Bennetts arrived at duke, Sierra was severely ill. But they have great hopes for the boys. Tommy, the youngest, is ______________________. Hunter, a year older ______________________.
(janet i'd like a little sketch of the two boys here, what do they like to do, what have they done. We'll care more when the decision is made if we fill in the portrait now)
"There's nothing you can do. There's a steady march that you can't stop," say John Bennett, who says that at her peak, Sierra could do anything.
"She was just a normal little girl," remembers John. "She was almost completely normal. I have a picture of her standing on a chair in the kitchen making cupcakes."
"I miss that little girl," says mother Alicia.
But Kurtzberg believes the stem cell transplant will work because it works in similar diseases.
"We have good scientific reason to think it will work."
Unfortunately, Sierra's disease has gone too far. The damage is permanent. But there may still be time to save her brothers. They're being tested to see how much brain damage there is already.
These are the most important tests the boys will ever take. If they pass they may live, if not, they will surely die.
Imagine answering questions that may well determine whether your son will live.
It's decision day and Kurtzberg has come to a decision about Tommy, the youngest.
"We would be willing to go ahead and transplant him, ok," she says.
But a different decision has been reached about Hunter. "Hunter's testing is worse that Tommy's and I mean you know that his MRI shows a lot of damage," says Kurtzberg.
"I worried that the transplant isn't going to help him and that it will be very difficult for him to get thru. And I wouldn't recommend that we do a transplant for him."
The Bennetts came into that meeting really wanting Hunter to be part of the program. Hoping against hope. But Kurtzberg, in all good conscience, says she could not give them that hope.
It's a tough message to have to deliver to families who have come to her as the doctor of last resort.
"Yeah, that's a hard position to fill. And I think a lot of times families want me to have superhuman powers," says Kurtzberg. "And I wish I did but I have to be honest with them."
"It wouldn't be beneficial to him [Hunter] to put him through that," says Hunter's father, John. "We decided to just let him have the time he has left."
They are sure, however, about Tommy.
"We have no other choice," says Alicia, Tommy's mother. "I'm not going to lose all three of them."
"Tommy, in a year, will probably be as sick as Hunter is now," says Kurtzberg. "And we hope to prevent that by intervening now."
Ten days later, it's the day the Bennett family has been waiting for. Tommy gets the new cells.
"I've been calling it his re-birthday, because he's going to be born again today," says mother Alicia. "He gets a new life from today on."
The donor cells are given intravenously, and Tommy barely notices. The entire process takes less than 30 minutes. Now it's up to the cells to find a home in Tommy's body and grow. (grow cells grow sign).
Tommy is on chemotherapy so his immune system won't reject his new cells. While most kids get very sick from the drugs, Tommy defied the odds, escaping without serious side effects. He did lose his hair but not his spirit.
Several weeks later, Tommy has defied the odds again. According to Kurtzberg, in about one case out of a hundred, the donor cells with the needed protein do not take root and grow. It turns out that Tommy was that case.
"The first one didn't work," says mother Alicia. "He came back showing no donor cells, so now we're in Round Two."
Dr Kurtzberg and the Bennetts decided to try a second transplant. This time, the chemotherapy takes a toll on Tommy's health.
