Bold and Beautiful’s SCID baby, part 3

10/18/07 episode 

Nick: Something unexpected’s happened.

Brooke: Nick, what is it?

Bridget: Mom, the–the baby needs a bone marrow transplant, and nick’s been ruled out. So w-we have to use the biological mother– the same donor that we used in in vitro.

Brooke: Well, let’s find her.

Nick: We have.

Brooke: That’s wonderful. (Scoffs) I-I still don’t understand. What does this have to do with me?

————————————————————————————————————————

Bridget: Do you remember, um– do you remember coming in for your fertility testing?

Brooke: Of course I do, honey, but why in the world are we even talking about this?

Bridget: Just bear with me, mom, please. Please, let me explain.

Brooke: (Sighs) explain what?

Bridget: (Sighs) the day you came in to have your eggs– your eggs tested, wh–when you realized that you weren’t going to be using your eggs, do you remember the little speech that I-I gave you that day, the one that I said I give all my– my clinic patients?

Brooke: About?

Bridget: The one about designating the eggs that were harvested to research.

Brooke: Yes. You said a lot of the women in your class– the resident women– were doing the same thing. But I-I-I still don’t understand why we’re talking about this right now.

Bridget: (Sighs) okay, mom, your– your name was in the computer as brooke marone.

Brooke: No, I-I told them to change that.

Bridget: The–the donor that nick and taylor chose– her eggs were also labeled “marone.” Dr. Caron wasn’t in the day of the fertilization. I was. And so was the tech that was there the day that I was doing testing on you. And when I asked them to bring me the donation labeled “marone,” I-I guess the–the– I guess the tech thought that I…

Brooke: I was the donor?

Bridget: No one ever intended this, mom.

Brooke: Taylor’s baby is mine? (Exhales deeply)

—————————————————————————————————————

Brooke: The baby– I’m the biological mother?

Nick: Yes.

Brooke: The child that taylor has been carrying all this time and the child that I-I so desperately wanted to give you– and–and I did?

Bridget: Wait a second. Why didn’t I think of this before? Oh–oh my god. What–what about my bone marrow? Who’s closer to mom genetically than me? I’m sure I have the same recessive S.C.I.D.S gene that–that–that you do, mom. And I’m younger, so I’d recover faster. I can do this.

Nick: The mother’s the closest match, bridget. I don’t want to waste any time with this. We gotta test her as soon as possible. Will you do this, please?

Brooke: Oh, yes, of course. You don’t even have to ask.

Nick: (Whispers) thank you. I have asthma and my asthma symptoms…

Nick: You know, I’ve–I’ve tried to wake her.

Nurse: Dr. Caron prescribed a sedative. She got a little agitated after you left.

Nick: Well, how long do you think she’ll be out? I need to talk with her.

Nurse: Depends on how much she needs the rest.

Nick: Well, if she wakes up while I’m gone, would you– would you tell her everything’s okay?

Nurse: Mm-hmm.

Nick: Our son’s gonna have what he needs. (Whispers) thanks.

Nurse: (Whispers) okay.

Brooke: Is what you’re doing safe for the baby?

Dr. Caron: Well, we’ll have to treat the marrow first.

Bridget: Mom, it’s– it’s, um, an infusion, not an actual surgery.

Dr. Caron: Correct. It’s like a blood transfusion. It’s very low-risk.

Brooke: Oh.

Nick: Everything okay?

Brooke: Uh, yeah, everything’s fine. I was just gonna ask dr. Caron if–

Dr. Caron: Excuse me, uh, mr. Marone, you can’t be in here.

Nick: Doctor, I’ll set up housekeeping in the hallway if I so choose, because my lawyers could have me owning this place by the end of next week, along with your little red mercedes. Now you ask your question, brooke.

Brooke: Uh, okay. I was just wondering if I could be there when the baby was given my bone marrow.

Dr. Caron: No, I’m sorry. That’s not possible. It’s–it just isn’t done.

Nick: Well, it’ll be done tonight.

————————————————————————————————————————

Nick: Hey, pal.

Nick: God, you’re so beautiful. (Sobs) (sobbing) oh, take me. God, take everything I have. Just… just don’t take him. Don’t take him.

Nick: Don’t take him. (Sobs)

———————————————————————————————————————

Nick: How long is she gonna be out? It’s been a couple of hours.

Dr. Caron: That’s completely normal.

Nick: You said that it went well, right?

Dr. Caron: Very. In fact, I think this is what we’ve been waiting for. Okay. All right, let’s start the infusion.

Taylor: (Sighs)

Bridget: Hey.

Taylor: Mm. Where is nick?

Bridget: I’m, uh– I’m sure he’ll be right back.

Taylor: How did the surgery go?

Bridget: That could not have gone better. The baby’s probably getting the infusion right now.

Taylor: And the donor was a pretty close to perfect match?

Bridget: Um, yeah.

Taylor: How is she doing?

Bridget: Oh, uh, she’s fine. She’s in recovery.

Taylor: I just wish I could talk to her and thank her, because… (sniffles) she’s just done so much for us, and I-I know there’s the confidentiality clause, but–

Bridget: Right, yeah.

Taylor: I mean, does that mean I’ll really never get to meet her and thank her?

Bridget: Taylor… (sighs) nick’s gonna be back in just a minute, okay?

Taylor: Bridget? (Cell phone rings) (rings) (rings)

Brooke: (Weakly) hi.

Nick: Hi. You’re awake.

Brooke: Yeah, uh, I thought that was ringing in my ears.

Nick: (Laughs)

Brooke: How’d I do?

Nick: Perfect. You did perfect.

Brooke: (Sighs) yeah? (Cell phone rings)

Nick: Oh.

Brooke: Oh, here, I-I can take that. (Rings)

Nick: You’re sure?

Brooke: Yeah.

Nick: There you go.

—————————————————————————————————————-

Nick: Yeah.

Brooke: Oh, nick.

Nick: Hey. Hey. Hey. You shouldn’t– you shouldn’t get up. It’s too soon yet.

Brooke: Well, can’t I see him?

Nick: Are you sure you want to?

Brooke: Yeah, I’m sure.

Nick: There he is.

Brooke: Oh.

Brooke: He’s so tiny.

Nick: Yeah, isn’t he?

Brooke: (Gasps) he’s beautiful.

Nick: I know. You see this? This is life flowing into him, life that you’ve given to him again.

Brooke: It’s our baby. It’s amazing.

Nick: Brooke, this whole–just–

Brooke: Nick, I am really happy that I could do this for you. But taylor carried him, and you’re his father. And you’re gonna have a wonderful life together, just like ridge and me. But for a few minutes, it doesn’t hurt to be proud parents, right? I mean, what’s the harm in that?

Nick: No harm at all.

Baby: (Cries)

Nick: You’ve blessed my life in so many ways.

Baby: (Crying)

Nick: Thank you for our son.

Taylor: Nick?

Brooke: (Gasps)

Taylor: Nick? Nick.

Nick: Hey.

Taylor: Hi.

Nick: What are you doing out of bed?

Taylor: Oh, there she is. That’s the donor? You wanted to me her, too, didn’t you? I-I just want to go thank her.

Nick: Are you sure?

Taylo well, that’s– that’s our angel of mercy. I mean, I-I just– I want to thank her. I mean, she just did something so selfless. I-I want to– I want to tell her that that means a lot to me, and I-I want to tell her how much it’ll mean to me to– to be able to raise this baby.

Bold and Beautiful’s SCID baby, part 2

10/17/07 episode 

Nick: Honey, the woman donated her eggs. If–if she’s that charitable so that a couple she doesn’t even know can have a child, I don’t know why she wouldn’t do this.

Taylor: (Scoffs) donating bone marrow is no picnic.

Nick: It may turn out we don’t even need her. Now they’re testing me. They’re running it right now. Chances are, I’ll be the donor. No problem. (Door opens)

Man: I don’t mean to interrupt.

Nick: You got word from the lab?

Man: That’s why I’m here.

Nick: Did I get a green light?

Man: Mr. Marone, uh, I’m afraid we can’t use your marrow.

Taylor: Why not?

Nick: I’m one of the parents. Shouldn’t I be some sort of a match, a half-match, whatever you want to call it?

Man: Unfortunately, your blood work reveals that you have C.M.V.– Cytomegalovirus. It’s something many people carry without even realizing it. It’s not active. It’s not dangerous to you, but to a newborn with no immune system… I’m so sorry to give you this news.

Taylor: So the– the egg donor is our only hope? (Sobbing) what if she doesn’t want to? I haven’t even gotten to hold the baby.

Nick: Sweetie–

Taylor: I want to go see the baby! He could die. He could die, nick.

Taylor: No, I don’t want to talk to you!

Nick: Hey. Hey. Hey. Sit down. Shh. Okay.

Taylor: I want to see to see dr. Caron. I don’t want him in here! I want to see dr. Caron! There’s something else they can do. There’s something else they can do.

Nick: Calm down.

————————————————————————————————————————-

Taylor: What if she doesn’t want to help us? What if she doesn’t care if our baby is sick?

Nick: Calm down.

Nurse: Just lie back, mrs. Marone, please. Shh.

Taylor: No, she’s already done her part.

Nick: Shh. Okay, calm down.

Taylor: What if she’s moved? What if we can’t find her?

Nick: I will get all of the answers we need, okay?

Woman: Are you mr. Marone?

Nick: Yes.

Woman: Dr. Caron sent me.

Nick: Did you get ahold of the donor?

Woman: Yes. She’s agreed to help.

Nick: Did you hear that?

Taylor: Thank god!

Nick: Is she local?

Woman: Dr. Caron’s on the phone with her now. She’s–

Nick: Okay, will you please fill my wife in on the details? Thank you. I’ll be back.

Taylor: You’re leaving?

Nick: I just to make sure everything runs smoothly. Will you look after her? Thank you.

Taylor: Nick. Nick…

Nick: The quickest way to the fertility lab?

———————————————————————————————————————–

Taylor: So the donor’s an intern? Here?

Dr. Caron: Yeah. She’s on her way to the lab now so they can verify that she can be a donor.

Taylor: Well, can I talk to her? I would really like to meet her. I-I just want to thank her.

Dr. Caron: That might not be possible, taylor. You all agreed to confidentiality. She might want to remain anonymous.

Taylor: (Sighs)

———————————————————————————————————————

Nick: I need an answer, bridget. Is your mother the donor, or not?

Bridget: I’m so sorry, nick. The egg came from my mother.

Bridget: The test I ran just confirmed it.

Nick: There’s no chance of a mistake? None?

Nick: How did this happen? What am I gonna tell taylor?

Bridget: Nick, please, listen to me. Taylor just had a baby. She’s in no condition to try to wrap her mind around this.

Nick: Yeah. (Sighs) well, now that we know the truth, we need to get your mother over here as soon as possible.

Bridget: My mother? Why now? No, nick.

Nick: My son has S.C.I.D.S, and he needs a bone marrow transplant immediately, or he could die.

Bridget: Oh, god.

Nick: I need your mother now.

———————————————————————————————————-

Nick: Bridget, wait, wait. Before you call your mother, you should know that caron got ahold of the woman that we thought donated the egg, and she agreed to help.

Bridget: Well, only it won’t help. She’s not the biological mother. He needs marrow harvested from one of his parents. I’ll track down dr. Caron, and I’ll call mom on the way.

Nick: Hurry, will ya?

——————————————————————————————————————–

Brooke: Okay. (Exhales deeply) hello?

Bridget: Oh, mom, I’m so glad that you’re there.

Brooke: Bridget, what’s going on?

Bridget: I’m–I’m at the hospital. I need you to come down here right away alone.

Brooke: Why? What’s this about?

Bridget: I’ll explain when you get here. Just meet on the fourth floor. And please, mom, I-I need you. It’s nothing to worry about, but I need you right away.

Brooke: Okay, yes, yes. I’m on my way. (Sighs) gotta get to the hospital. Something’s going on with bridget. She needs me.

Ridge: When thomas called, he said everything was fine.

Brooke: I don’t think it has anything to do with taylor or the baby. S-s-something else is going on. It sounded urgent.

Ridge: You want me to drive you?

Brooke: No, no, that’s okay. You stay here… (sighs) and don’t you dare leave. I’ll be back as soon as I can.

—————————————————————————————————————–

Taylor: Can I at least see the baby?

Nurse: He’s in isolation now being prepped for the transplant.

Taylor: Where is my husband? He’s been gone a long time. He should be back here by now. Or is there something going on I don’t know about?

Nurse: Mrs. Marone…

Taylor: Is there something you’re not telling me?

Nurse: You’re exhausted.

Taylor: No! Answer my question. I don’t need this.

Nurse: You know everything I know. That’s a promise.

Taylor: No.

Nurse: These procedures take time. We won’t have answers for hours yet. Everything that can be done for your child is being done.

Taylor: (Sighs)

Nurse: Why don’t I ask the doctor if there’s something she can give you to help you relax a bit?

Taylor: (Sighs)

—————————————————————————————————————

Brooke: Hi, excuse me, have you seen bridget?

Woman: Bridget forrester?

Brooke: You don’t– you don’t know where she is? Oh, just– hi.

Nick: Hi.

Brooke: Bridget called me.

Doctor: Coming through.

Brooke: She said it was important. It is your baby?

Nick: Over here. We’re meeting her over here. Come here.

Brooke: (Sighs) nick, please tell me, is it your child? I-I-I mean, I know there was a rough delivery, but has there been a complication?

Nick: Uh, yeah. Something’s happened. There’s something about my boy– something you need to know.

Bridget: Hey. I was able to stop things. They were still running some tests. But I apprised dr. Caron of the situation, and her team is standing by.

Brooke: (Scoffs) will one of you please tell me what’s going on here?

Bridget: Oh. (Sighs) nick’s baby was born with a genetic defect. It’s called S.C.I.D.S– severe combined immunodeficiency.

Brooke: Immunodeficiency?

Bridget: Um, yeah, it’s–it’s where the baby is born with virtually no immune system. And if he, um, gets a cold or a little bug, he could die.

Brooke: Oh, my god. I’m so sorry. (Sighs) is there anything that–that can be done? Is–is there a cure?

Bridget: We can treat it with a bone marrow transplant. It has to be from one of the biological parents.

Brooke: Well, that’s good news, right?

Nick: It’s very good news.

Brooke: Okay. (Laughs nervously) I’m kind of confused. Shouldn’t you be with the donor mother right now? What does this have to do with me?

Nick: It has everything to do with you, brooke, everything.

————————————————————————————————————————

Bold and Beautiful’s new baby has SCID

10/16/07 episode: 

Nick: S.C.I.D.?

Dr. Caron: Severe combined immunodeficiency.

Taylor: The “Boy in the bubble” syndrome?

Dr. Caron: That’s right. To put it simply, your son was born with almost no immune system.

Nick: So he–he can’t be around people, or…

Dr. Caron: Not now, no. Babies born with it are highly susceptible to infections. That’s usually how it’s diagnosed– after the baby’s already gravely ill with meningitis or pneumonia.

Baby: (Fussing)

Nick: Gravely ill?

Dr. Caron: It’s often fatal. I’m sorry.

Baby: (Crying)

Nick: Oh. Well, how did this happen?

Dr. Caron: It’s a genetic disorder. It–it–it sometimes happens when both parents have a certain recessive gene. Uh, but one of the lab techs noticed that the baby had an alarmingly low white blood cell count. So we did some follow-up tests to confirm the diagnosis. We’re lucky, in a way, because we’ve caught it before he’s had a chance to come down with anything. That’ll make it much easier to treat.

Nick: So it– it can be treated?

Dr. Caron: Yes, with a bone marrow transplant. Now the most effective treatment we have is what we call a half-match transplant from one of the parents. Using a half-match, we don’t have to worry about graft-host disease, and the baby doesn’t have to take as many medicines.

Taylor: (Voice breaking) I can’t be a donor because I’m not the biological mother.

Nick: You can use me. I’m the father.

Dr. Caron: We will. We’ll have to screen you, though– make sure there’s no viruses, no kind of infection. That could be fatal to the baby.

Taylor: (Normal voice) well, what– what is the success rate of that?

Dr. Caron: Well, an early half-match transplant within the first three months of life– almost 80%.

Nick: Well, I don’t want to wait. I don’t want to take any chances with this boy’s life. I want to do this transplant now, as soon as possible.

Taylor: No, we have to do everything we can to save him. Please, we don’t want to wait.

——————————————————————————————————-

Nick: So… (clears throat) what if my marrow’s no good?

Dr. Caron: Well, I’m gonna contact the egg donor, see if she’ll cooperate.

Taylor: Whatever it takes– anything, please.

Dr. Caron: Oh, but she was anonymous, so maybe legally, it–

Nick: No, there’s a provision in the contract. We can contact the donor if there’s any issue with the child’s health.

Dr. Caron: Oh, good. That’ll make it easier.

Nick: Listen, doc, um… (clears throat) make sure you make it clear… (voice breaking) how much we love this little boy and how much we need her help.

Dr. Caron: I’ll get right on it. But right now, I’m afraid this little guy has gotta stay in a sterile environment.

Taylor: I can’t. I can’t. (Sobbing) I can’t. Please, no, don’t make me. I don’t want to be away from him. Please, please, don’t make me.

Nick: Shh. Shh. Shh. Shh. Now listen, our little boy’s in trouble, so we gotta do what we gotta do.

Taylor: I don’t want him to go.

Nick: (Whispers) I know. (Normal voice) hey, it’s okay.

Baby: (Grunting)

Taylor: (Sobbing)

Baby: (Fusses)

Dr. Caron: Okay.

Taylor: (Sobbing) Oh, God!

Nick: (Whispers) it’s all right.

Taylor: (Sobbing)

——————————————————————————————————————

Dr. Caron: All right, we’ll test the father immediately. He’s very anxious to be the donor if everything works out.

Man: What about the egg donor?

Woman: I’ve got the file right here. Legal-verified– we have permission to make contact.

Dr. Caron: Ann Lloyd. She lives in riverside.

Woman: Is there a daytime number?

Dr. Caron: Yeah–her cell. Let’s do this. Let’s call her.

Man: I’ll arrange for Mr. Marone’s testing.

———————————————————————————————————————-

Taylor: (Sobbing) why? I just can’t believe this is happening. I don’t want to lose him.

Nick: Um, honey, I’m gonna get tested. I’m the kid’s father. It’s gonna be okay.

Taylor: Yeah, but what– what if–

Nick: Shh. Shh. Shh. Shh. Now listen. Listen. We’re gonna take this one step at a time, and right now we’re doing our best, okay?

Taylor: But–but what if the egg donor mother doesn’t want to– doesn’t want to help us? What if she won’t?

Nick: We are gonna do everything we can. We are gonna do our best for our son. Now you hold on to that. You hold on to that.

—————————————————————————————————————————

Doctor promotes blood tests for babies

Doctor promotes blood tests for babies
State Health Department screens for 45 diseases with a few drops at birth

By CATHLEEN F. CROWLEY, Staff writer
Click byline for more stories by writer.
First published: Thursday, April 26, 2007

ALBANY — A drop of blood can change the course of a newborn baby’s life.

Five dabs of blood drawn from a newborn’s heel allow the state Health Department to test babies for 45 different diseases. Babies are screened for HIV, sickle-cell disease, cystic fibrosis and the most recent addition to the battery, Krabbe disease.

Early identification is crucial, said Dr. Michele Caggana, director of the state’s newborn screening program. Without the blood test, many of the diseases are difficult to diagnose and can cause irreparable harm. Early detection can avert life-changing handicaps and even death, she said.

Tonight, Caggana will talk about the screening program as part of a lecture series sponsored by the Wadsworth Center, the state’s public health research laboratory. The series, called “Science at Your Service,” highlights the science performed at the state lab.

The state lab tested blood samples from 252,000 newborns in 2006, and 18,600 of the tests showed signs of a disease, according to statistics from the health department.

Every morning at Wadsworth’s Biggs Laboratory, state workers sift through Federal Express shipments from hospitals around the state. The mailbag delivers 500 to 2,500 blood samples from babies born over the previous few days.

Caggana predicted the samples will spike in November, nine months after the Valentine’s Day blizzard.

By 11 a.m., all the specimens are logged into the computer system and given a number. The index-size cards each have five drops of blood, called Guthrie spots, that spread into half-inch circles. From each card, a technician takes nine hole punches, a little smaller than the standard office tool. The “punches” are placed in trays and sent for testing overnight.

Diseases like congenital adrenal hyperplasia and galactosemia, both enzyme disorders, are urgent. Untreated, a baby can die within weeks. If a test returns with a positive result for one of those high-level diseases, the health department calls the baby’s pediatrician immediately, Caggana said.

The call can oftentimes be made 24 to 48 hours after the baby’s birth, she said.

“There’s staff that is dedicated every step of the way. They really, really work hard to make sure everything is correct,” Caggana said.

Newborn screening in New York began in 1965. At first, only phenylketonuria, a disease that causes brain damage, was tested. The program expanded to eight diseases in the late 1960s and did not change for two decades until new technology allowed the lab to perform more tests on a single hole punch.

In 2002, the health department added more than 20 diseases to its panel of tests, and the number eventually grew to 45.

Testing is regulated by state public health law. Health officials ask several questions before adding a disease to the screening program: Is the disease difficult to identify at birth? Is there a reliable test for the disease? Is it treatable? And is there a system in place to treat babies who have it?

“The whole premise behind newborn screening is that you pick up something that is not obvious at birth so you can find it and treat it before the baby suffers bad effects from the disease,” Caggana said.

The department is considering testing for several more diseases, including severe combined immunodeficiency disease (SCID), better known as bubble boy disease. Wisconsin is running a pilot program for SCID, which can be treated with a relatively simple bone marrow transplant if diagnosed within the first months of a child’s life.

“To me, it sounds like a good candidate,” Caggana said.

Cathleen F. Crowley can be reached at 518-454-5348 or by e-mail at ccrowley @timesunion.com.

linkback url: http://timesunion.com/AspStories/story.asp?storyID=584162&category=FRONTPG&BCCode=HOME&newsdate=4/26/2007&TextPage=1

Association of Public Health Laboratories Applauds Introduction of Newborn Screening Saves Lives Act

Association of Public Health Laboratories Applauds Introduction of Newborn Screening Saves Lives Act

WASHINGTON, Feb. 15 /PRNewswire-USNewswire/ — The Association of Public Health Laboratories (APHL) commends Senators Chris Dodd (D-CT) and Orrin Hatch (R-UT) for their introduction of legislation to provide increased parent and health care provider education, improve follow-up care and enable states to improve their newborn screening programs. The Newborn Screening Saves Lives Act of 2007 represents a significant commitment to improving the health of children by assuring that testing will continue to occur with the greatest level of accuracy and that those children with life threatening and debilitating disorders will receive prompt and effective treatment.

“The nation’s public health laboratories have been at the vanguard of newborn screening since its inception in 1965,” said Katherine Kelley, DrPH, director of Connecticut’s public health laboratory. “I’m thrilled that Senator Dodd has again introduced legislation that will allow public
health laboratories to continue to provide the highly-accurate testing results — results that enable health care providers to immediately begin treatments that save and improve the lives of children — as technological advances broaden the number of disorders that can be detected. I urge all members of the Senate to cosponsor Newborn Screening Saves Lives Act of 2007.”

Public health laboratories conduct newborn screening tests on 97 percent of the babies born in the US — tests that have long been recognized as an essential and effective preventive public health service that identifies thousands of babies each year who are born with a genetic or metabolic disorder. Laboratories and parents must be confident that tests results are accurate and that disorders are not missed.

“This important piece of legislation is needed to ensure that all babies born in the US have an equal chance for a healthy start to life,” said William Becker, DO, MPH, chair of the APHL Newborn Screening and Genetics in Public Health Committee. “It is especially significant that the new bill directs the Secretary of Health and Human Services to develop a national contingency plan for newborn screening so we can build upon the experiences learned after Hurricane Katrina and that it continues to provide critical monies for assuring the quality of all newborn screening laboratory testing.”

The funding provided in the bill for the Centers for Disease Control and Prevention (CDC) will enable CDC to utilize state-of-the-art science to address pressing newborn screening issues that are of public health concern and:

– Develop new screening methods for specific disorders, including asthma, autism, diabetes, severe combined immune deficiency (SCID) and metabolic storage diseases such as mucopolysaccharidoses and adrenoleukodystrophy

– Adapt innovative technologies for screening and quality assurance

– Transfer appropriate screening technologies to state public health laboratories

– Assist states in conducting pilot studies related to new screening tests for newborns that would identify babies with disorders that are not part of the current panel of tests

– Develop systems for new screening tests to monitor the quality of testing methods in all laboratories

– Upgrade online data-reporting site to accommodate expanding the number of newborn screening tests that state laboratories conduct

– Develop DNA methods and controls for genetic measurements that will be used in the future to detect disorders CDC’s Environmental Health Laboratory is the only comprehensive source
in the world for ensuring the accuracy of newborn screening tests, and the nation’s public health laboratories depend on it for the success of their newborn screening operations.

The Association of Public Health Laboratories works with members to strengthen laboratories serving the public’s health. By promoting effective programs and public policy, APHL strives to provide public health laboratories with the resources to protect the health of US residents and
to prevent and control disease globally.

Contact: Jody DeVoll, Director of Communications and Membership, 240.485.2753,
jody.devoll@aphl.org

SOURCE Association of Public Health Laboratories

linkback URL: http://www.prnewswire.com/cgi-bin/stories.pl?ACCT=104&STORY=
/www/story/02-15-2007/0004528995&EDATE=

New diagnostic centre for ‘bubble babies’

From the story below, it looks like India is making a big step toward recognizing SCID. I hope we hear more about this initiative.
New diagnostic centre for ‘bubble babies

PTI
Tuesday, January 30, 2007 17:33 IST

MUMBAI: The Institute of Immunohaematology (IIH), which comes under the Indian Council of Medical Research, will start a centre to detect congenital Severe Combined Immunodeficiency (SCID) in children.

Children afflicted with SCID are called “bubble babies”. Although the number of children suffering is found to be large in the country, there is no systematic investigation or proper registry of these bubble babies, which would enable systematic healthcare for them, Director of IIH, K Ghosh told.

In order to investigate the number of cases and establish a country-wide registry, a beginning will be made soon in setting up a diagnostic centre at IIH.

“We will work in collaboration with Wadia children’s hospital in Mumbai as they get at least 200 children affected with SCID,” Ghosh said.

Already, IIH has sent one of its scientists to the UK to get trained in diagnosis.

“Once we succeed in establishing the centre and the technique in Mumbai, we will go for a country-wide registry and expand centres in other parts,” he added.

linkbackk url: http://www.dnaindia.com/report.asp?NewsID=1076955

Some People Don’t Realize How Lucky They Have It

Some people don’t realize how lucky they have it when they have a baby that’s healthy. They just don’t have a sense of the reality of what the alternatives could be. They are too naive or isolated from the realities of childhood disorders, and the loss of a child to a disease which could’ve been corrected if identified at birth.

From the Columbustelegram.com
http://www.columbustelegram.com/articles/
2007/01/25/news/news5screening.txt
By Anna Jo Bratton/The Associated Press
To the Spierings, Nebraska’s requirement that newborn babies undergo blood screening within 48 hours of birth is an infringement on their religious beliefs and their right to decide what’s best for their four children.

The Spierings, who attend a fundamental Christian church and also follow some teachings of the Church of Scientology, wanted “that balance of our beliefs included into the births of our children,” Louise Spiering said.

The mandatory newborn screening test, in which a few drops of blood are drawn from a baby’s heel, screens for dozens of rare, congenital diseases, some of which can cause severe mental retardation or death if left undetected.

Nebraska is one of just four states - South Dakota, Michigan and Montana are the others - that doesn’t let parents reject the testing.

The Spierings, who are supporting legislation that would let parents decline the tests for religious reasons, wanted to observe a period of silence after their daughter Melynda’s pending birth. They wanted to avoid loud noises and reduce the pain she experienced in order to protect her mental health.

There’s even a 2nd family quoted with similar views:

The Spierings are not alone in opposing Nebraska’s law.

Mary Anaya and her husband, Josue, believe the Bible instructs against deliberately drawing blood.

And because, according to the book of Leviticus, “the life of the flesh is in the blood,” ignoring that directive may shorten a person’s life.

The children’s blood is “something precious in my sight and in the sight of God and not to be tampered with lightly,” Mary Anaya said.

“I’m not asking for anyone to not screen their child,” she said. “I’m asking for the right to decide not to screen mine.”

Obviously these families have never had to deal with a child who’s been permanently damaged by a metabolic disorder or life threatening infection, all because no one was able to recognize a genetic disease in a perfectly healthy looking baby. If these parents had lost a child to such a disease you can bet they wouldn’t be so cavalier about this. Do they really believe that they are immune to such complications? If even one child’s life can be saved by taking a few drops of blood from every infant, then it’s worth it. I just hope none of these families ever have to walk in our footsteps! Or perhaps they don’t want to know if their child has a life threatening disease. Perhaps they’d rather only have a perfect child. So what if that child does have a genetic disease or disorder, well then perhaps they feel that it would be better for the child to die than for them to go through the effort of raising a less than perfect child.

Tests May Help End ‘Bubble Boy’ Disease

Tests May Help End ‘Bubble Boy’ Disease
By LAURAN NEERGAARD, AP Medical Writer
11:23 AM PST, January 15, 2007

WASHINGTON — Doctors were stumped. Tests for meningitis, cancer, a list of other diseases all were negative — yet just days after a sudden high fever sent 8-week-old Anthony James Mingione to the hospital, he died. An autopsy uncovered the lethal secret: Anthony was born without a working immune system. A rare genetic disorder known as the “bubble boy disease” rendered him vulnerable to the most minor of germs.

Now Wisconsin is about to begin the nation’s first experiment at testing newborns for this killer, officially named SCID, in hopes of giving babies like Anthony a chance at lifesaving treatment — even as scientists ask how many infant deaths attributed to infections really might be due to the immune destroyer.

“These people look like the Gerber baby until they get sick,” says Dr. Rebecca Buckley, a SCID specialist at Duke University and longtime advocate for newborn screening.

“I am more concerned than ever that a lot of these babies never make it to the pediatrician, much less an immunologist.”

Between 40 and 100 U.S. babies are estimated to be diagnosed each year with SCID, or “severe combined immunodeficiency disease.” The best-known victim was Houston’s famous “bubble boy” who lived in a germ-proof enclosure until his death at age 12 in 1984.

But no one knows how often SCID is missed. In a few dozen more cases? Another 100?

“We think there’s a lot more out there and that the infants just die,” says Dr. Jack Routes, a pediatrician at Children’s Hospital of Wisconsin. He is heading the newborn-screening experiment, with funding from a parents’ advocacy group, the Jeffrey Modell Foundation, that may help answer that question.

Catching the disease before a baby gets sick means a far better chance that treatment is successful, explains Dr. Jennifer Puck of the University of California, San Francisco.

Puck developed the first screening test that promises early diagnosis. This winter, Wisconsin’s state laboratory begins the first phase of its pilot project, practicing with Puck’s test on anonymous newborn blood samples. If no problems crop up, later this year Routes and colleagues will begin a study that attempts to screen all Wisconsin newborns for SCID — to see how accurate it really is, and track what happens to those diagnosed.

“I know this will change the course of SCID,” says Anthony’s mother, Tara Mingione of Long Island, N.Y., who has pushed for screening since his death two years ago. “Anthony had absolutely no chance to live unless he was tested at birth.”

Today, all U.S. newborns are tested for a variety of rare but devastating genetic diseases — using a single spot of blood from the baby’s heel a day after birth — to catch the few thousand who need fast treatment to avoid serious problems.

Not yet on that list: SCID and other “primary immunodeficiency” diseases, meaning children are born with faulty immune-system genes. There are different SCID subtypes, but the end result is that babies can’t produce important disease-fighting cells called T cells.

Without treatment, they usually die before their first birthday. Bone marrow transplants can provide them with stem cells that take root and begin producing T cells after all, curing some children and greatly extending the lives of others.

But Duke’s Buckley calls age key: She reports 95 percent survival in SCID babies transplanted before they’re 3 months old — almost always those born to women who know SCID has struck a relative, and thus seek at-birth testing. After that age, survival plummets because the babies are so sick going into surgery.

Moreover, total costs for transplanting a baby shortly after birth are about $100,000, Buckley says, compared with bills that can reach $1 million after they get sick.

When doctors suspect a baby has SCID, they can check a vial of his or her blood to see if T cells are present. But routine screening — checking those dried blood spots — requires a whole different approach.

Puck had to create a kind of DNA test to detect bits of genetic material that signal T cells’ maturation, and thus should be visible only in healthy babies.

It’s not perfect, cautions Robert Vogt, a research chemist at the Centers for Disease Control and Prevention. But it seems accurate enough to study in thousands of babies, scientists concluded at a November meeting sponsored by CDC and Modell Foundation. Vogt says California, New York and Missouri are among a handful of other states considering pilot screening projects.

Also, CDC is funding California health officials to use the new test to check stored blood samples from nearly 2,000 babies who died before 18 months of age — probing whether SCID gets missed.

Mingione is convinced it does, because she almost turned down the autopsy that finally diagnosed Anthony. To avoid chancing another tragedy, last spring she adopted a healthy baby boy.

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EDITOR’S NOTE — Lauran Neergaard covers health and medical issues for The Associated Press in Washington.

backlink URL: http://www.latimes.com/news/nationworld/politics/wire/sns-ap-healthbeat-bubble-boy-disease,1,4087507.story?coll=sns-ap-politics-headlines