Date: 10/31/2008
By RACHEL JOHNSON
The Aiken Standard
AIKEN, S.C. (AP) _ One mother’s persistence saved her son’s life.
After watching medical personnel roll their eyes and express the “not you again” body language numerous times over the past year, Nicole and Stephen Householder finally found some answers to the mysterious rash that was written off as eczema, the abnormal bowel symptoms, the bruising, excessive diaper rash, cradle cap and other symptoms that manifested in her 13-month-old son, Landin.
“Are you a first-time mother?” nurses frequently asked Nicole, or they said, “He looks fine and acts fine so there isn’t anything wrong.”
Nicole knew in her heart something was wrong with her son, and she persisted until she found answers. “I knew something wasn’t right with him.”
Since Landin was born Sept. 21, 2007, he has been a familiar face at his pediatrician and the hospital. Nicole recalls they have been going to the doctor’s office at least seven or eight times a month. Initially, he was hospitalized for chronic constipation which later turned to chronic diarrhea — issues the Householder family has been dealing with since birth.
Just a few days before Landin’s first birthday, Nicole noticed red splotches on Landin’s back. “It looked like an allergic reaction,” she said. She was not alarmed as children frequently have reactions.
Observing the area over the weekend, Nicole noticed the redness spreading. Landin never seemed to notice; he never itched the area and continued crawling, playing and learning to walk.
Nicole took Landin to his pediatrician where Landin was diagnosed with eczema and given a topical cream for treatment. Over the next few days, not only did the rash become more severe, Landin’s skin began to turn black and blue. He still didn’t itch and the bruises didn’t appear to hurt.
The Householders returned to the doctor where Landin was tested for meningitis. He never ran a fever and appeared perfect.
“They kept telling me he’s acting fine, but as a momma I wanted answers,” said Nicole. “What was he supposed to look like or act like? I knew something was wrong and I felt like I wasn’t being taken serious.”
Landin was referred to a hematologist/oncologist as there was concern for leukemia. His platelet levels came back normal, his blood work was fine. Next he was referred to a dermatologist who agreed that if it were eczema, Landin would be scratching.
After three and a half weeks of watching her child turn blue and the rash worsen while doctors told her it was eczema and prescribed creams for it, Nicole and her family wanted answers.
Two biopsies were performed on the rash on Landin’s back and returned with results testing positive for Langerhans cell histiocytosis. The dermatologist referred the Householders to an oncologist to explain the disease to the family.
Nicole’s mother, Gwen Koon, spent the next 24 hours frantically researching Langerhans cell histiocytosis online, while Nicole and Stephen dealt with the devastating news.
They discovered that histiocytosis is a rare blood disease caused by an excess of white blood cells called histiocytes. The histiocytes cluster together and can attack the skin, bones, lung, liver, spleen, gums, ears, eyes and/or the central nervous system.
Information provided to the Householder family by a specialist states in big bold letters “There is no known cure,” there is only treatment. Landin’s treatments will either be chemotherapy for six months to a year, prednisone shots or surgery.
The cause of the disease is unknown, but it can be triggered by an unusual reaction of the immune system or by something commonly found in the environment. It is not hereditary or communicable.
“The doctor told me I saved my son’s life by being a paranoid mother,” said Nicole. “Don’t give up when you know something is wrong; you’re the parent. People really need to look at what’s going on when their child is not getting better. You know if something is wrong with your child.”
Copyright 2008 The Associated Press.
More parents ponder cancer gene tests for kids
Date: 9/21/2008 5:48 PM
By MARILYNN MARCHIONE
AP Medical Writer
CHICAGO (AP) _ Women are going for breast cancer gene testing in record numbers, forcing more parents to face a tough question: Should we test the kids?
About 100,000 tests for breast cancer gene mutations were done last year, double the number in 2005. The trend may grow even more because of widening insurance coverage and a new law banning genetic discrimination.
Medical experts advise against such testing before age 25, saying that little can be done to prevent or screen for breast or ovarian cancer until then, so the knowledge would only cause needless worry.
However, new studies and interviews by The Associated Press show that many people who have BRCA gene mutations — and even more of their offspring — disagree. Cornell University freshman Jenna Stoller is one.
“I’m the kind of person that, like my mom, am more comfortable knowing something about myself than not knowing,” said Stoller, who tested positive earlier this year, shortly after her 18th birthday. Her mother made her wait five years after revealing her own positive test result, even though Jenna wanted to be tested at age 13.
“I remember thinking on my 17th birthday that I had another year to wait till I could make the decision for myself,” she said.
Research also shows there can be benefits to at least talking about testing and inherited cancer risks with teens. It led some to quit smoking, one study found. Others, like Stoller, were advised to limit alcohol and avoid birth control pills, which can raise the risk of breast cancer though they also lower the risk of ovarian cancer.
A decade after BRCA testing began, researchers are just starting to discover the many effects that someone’s positive test can have on other family members. A big issue is whether it is ethical or good to test minors.
“I’ve seen a fair number of parents in clinic who have really struggled with this question,” said Dr. Angela Bradbury, a breast cancer specialist at Fox Chase Cancer Center in Philadelphia who has led several studies on the topic.
Myriad Genetics Inc., based in Salt Lake City, sells the only BRCA gene test, which costs up to $3,000.
Men can also carry a BRCA mutation, and if either parent does, a child has a 50-50 chance of inheriting it. The mutations are most common in people of eastern European Jewish descent.
Women with a faulty gene have a three to seven times greater risk of developing breast cancer and a higher risk of ovarian cancer. Men have more risk of prostate, pancreatic and other types of cancer.
To lower risk, women can consider anti-estrogen drugs or having their breasts or ovaries removed. But these drastic measures are not advised for very young women. Even mammograms are not advised till age 25, because cancer is rare before then.
So the American Society of Clinical Oncology and other groups say that when the risk of childhood cancer is low and nothing can be done to lower it, children should not be given gene tests.
“The rule is, do no harm — test only if you can offer something that will help,” said Mary-Claire King, the University of Washington scientist who in 1990 discovered the first breast cancer predisposition gene, BRCA-1.
“The life of a young girl is complicated enough already. There is nothing about it that needs to change” if she carries one of these genes, King said.
But some parents are testing girls before they even have breasts, let alone cancer risk. One woman had her 4-year-old daughter tested, said Sue Friedman, executive director of FORCE: Facing Our Risk of Cancer Empowered, a Tampa-based support group for people with BRCA genes.
Another woman tested two very young children several years ago at Baptist Health South Florida in Miami.
“We wanted to know — it’s as simple as that,” she said. “Kids are born with all kinds of defects that parents have to make decisions about. I just think this is one of those things,” said the woman, who spoke on condition of anonymity because of privacy concerns for her children.
Rae Wruble, a nurse and genetics adviser at Baptist Health, said this woman was the only one in more than 900 she has counseled who chose to test very young children. Wruble said she always tells patients that cancer groups recommend against testing minors and why. But she admitted: “If I had young children, I would have tested them because that’s just the kind of person I am — I would want to know.”
Most parents do not peek inside their child’s gene toolbox, Friedman said. “It does deny the actual patient informed consent.”
“I feel very strongly that people should not test their children, but children should make their own decision,” said Jill Stoller, a New Jersey pediatrician who is the mother of Jenna, the Cornell student.
Jenna had hours of counseling before doctors agreed that for her, testing was the right choice. However, Jennifer Scalia Wilbur, a counselor at Women and Infants Hospital in Providence, R.I., told of a 19-year-old who had testing without counseling and now wants to remove her breasts and not have children.
“It was extremely distressing” to talk with her now and try to correct her overly dire outlook, she said.
At a meeting of the oncology society in June, Bradbury reported on a survey she did of 163 adult BRCA gene carriers in the Chicago area. About half supported testing minors in some or all circumstances. A previous survey she led of 53 gene carriers and 22 of their offspring (ages 18 to 25) found about the same degree of support. Most sons and daughters favored testing minors.
Another of her studies, recently published in the American Journal of Medical Genetics, explored how sons and daughters ages 18 to 25 were affected by learning that a parent had tested positive.
Some effects were good — five of the seven smokers said they were motivated to quit.
Most said the knowledge had no big negative effect, but six of the 22 said they felt frightened or disturbed.
“I was shocked, scared. I wondered if I was going to get the gene and realized I could pass it to my (future) kids. I would feel like it was my fault if they got cancer,” one daughter said in the survey.
Two sons said the knowledge might change their plans to have children. Five daughters and two sons had already gone for gene testing, and nearly all of the rest said they planned to be tested.
Wanting to test minors can be a knee-jerk response that changes after counseling. Tammy LeVasseur of North Attleboro, Mass., at first thought she wanted all three of her daughters to be tested after she learned of her own positive result in July.
She later decided to encourage testing for her two oldest daughters, ages 26 and 28, who had already finished having children, but not for Jessica, who just turned 17.
“I want to wait until I’m in my 20s,” Jessica LeVasseur said. “They wouldn’t do anything about it. There’s no reason to worry now. I’d rather just be able to finish my teenage years without worrying about that.”
___
On the Net:
National Cancer Institute: http://www.cancer.gov/cancertopics/factsheet/risk/brca
FORCE support group: http://www.facingourrisk.org/index.php
Copyright 2008 The Associated Press.
By MARILYNN MARCHIONE
AP Medical Writer
CHICAGO (AP) _ Women are going for breast cancer gene testing in record numbers, forcing more parents to face a tough question: Should we test the kids?
About 100,000 tests for breast cancer gene mutations were done last year, double the number in 2005. The trend may grow even more because of widening insurance coverage and a new law banning genetic discrimination.
Medical experts advise against such testing before age 25, saying that little can be done to prevent or screen for breast or ovarian cancer until then, so the knowledge would only cause needless worry.
However, new studies and interviews by The Associated Press show that many people who have BRCA gene mutations — and even more of their offspring — disagree. Cornell University freshman Jenna Stoller is one.
“I’m the kind of person that, like my mom, am more comfortable knowing something about myself than not knowing,” said Stoller, who tested positive earlier this year, shortly after her 18th birthday. Her mother made her wait five years after revealing her own positive test result, even though Jenna wanted to be tested at age 13.
“I remember thinking on my 17th birthday that I had another year to wait till I could make the decision for myself,” she said.
Research also shows there can be benefits to at least talking about testing and inherited cancer risks with teens. It led some to quit smoking, one study found. Others, like Stoller, were advised to limit alcohol and avoid birth control pills, which can raise the risk of breast cancer though they also lower the risk of ovarian cancer.
A decade after BRCA testing began, researchers are just starting to discover the many effects that someone’s positive test can have on other family members. A big issue is whether it is ethical or good to test minors.
“I’ve seen a fair number of parents in clinic who have really struggled with this question,” said Dr. Angela Bradbury, a breast cancer specialist at Fox Chase Cancer Center in Philadelphia who has led several studies on the topic.
Myriad Genetics Inc., based in Salt Lake City, sells the only BRCA gene test, which costs up to $3,000.
Men can also carry a BRCA mutation, and if either parent does, a child has a 50-50 chance of inheriting it. The mutations are most common in people of eastern European Jewish descent.
Women with a faulty gene have a three to seven times greater risk of developing breast cancer and a higher risk of ovarian cancer. Men have more risk of prostate, pancreatic and other types of cancer.
To lower risk, women can consider anti-estrogen drugs or having their breasts or ovaries removed. But these drastic measures are not advised for very young women. Even mammograms are not advised till age 25, because cancer is rare before then.
So the American Society of Clinical Oncology and other groups say that when the risk of childhood cancer is low and nothing can be done to lower it, children should not be given gene tests.
“The rule is, do no harm — test only if you can offer something that will help,” said Mary-Claire King, the University of Washington scientist who in 1990 discovered the first breast cancer predisposition gene, BRCA-1.
“The life of a young girl is complicated enough already. There is nothing about it that needs to change” if she carries one of these genes, King said.
But some parents are testing girls before they even have breasts, let alone cancer risk. One woman had her 4-year-old daughter tested, said Sue Friedman, executive director of FORCE: Facing Our Risk of Cancer Empowered, a Tampa-based support group for people with BRCA genes.
Another woman tested two very young children several years ago at Baptist Health South Florida in Miami.
“We wanted to know — it’s as simple as that,” she said. “Kids are born with all kinds of defects that parents have to make decisions about. I just think this is one of those things,” said the woman, who spoke on condition of anonymity because of privacy concerns for her children.
Rae Wruble, a nurse and genetics adviser at Baptist Health, said this woman was the only one in more than 900 she has counseled who chose to test very young children. Wruble said she always tells patients that cancer groups recommend against testing minors and why. But she admitted: “If I had young children, I would have tested them because that’s just the kind of person I am — I would want to know.”
Most parents do not peek inside their child’s gene toolbox, Friedman said. “It does deny the actual patient informed consent.”
“I feel very strongly that people should not test their children, but children should make their own decision,” said Jill Stoller, a New Jersey pediatrician who is the mother of Jenna, the Cornell student.
Jenna had hours of counseling before doctors agreed that for her, testing was the right choice. However, Jennifer Scalia Wilbur, a counselor at Women and Infants Hospital in Providence, R.I., told of a 19-year-old who had testing without counseling and now wants to remove her breasts and not have children.
“It was extremely distressing” to talk with her now and try to correct her overly dire outlook, she said.
At a meeting of the oncology society in June, Bradbury reported on a survey she did of 163 adult BRCA gene carriers in the Chicago area. About half supported testing minors in some or all circumstances. A previous survey she led of 53 gene carriers and 22 of their offspring (ages 18 to 25) found about the same degree of support. Most sons and daughters favored testing minors.
Another of her studies, recently published in the American Journal of Medical Genetics, explored how sons and daughters ages 18 to 25 were affected by learning that a parent had tested positive.
Some effects were good — five of the seven smokers said they were motivated to quit.
Most said the knowledge had no big negative effect, but six of the 22 said they felt frightened or disturbed.
“I was shocked, scared. I wondered if I was going to get the gene and realized I could pass it to my (future) kids. I would feel like it was my fault if they got cancer,” one daughter said in the survey.
Two sons said the knowledge might change their plans to have children. Five daughters and two sons had already gone for gene testing, and nearly all of the rest said they planned to be tested.
Wanting to test minors can be a knee-jerk response that changes after counseling. Tammy LeVasseur of North Attleboro, Mass., at first thought she wanted all three of her daughters to be tested after she learned of her own positive result in July.
She later decided to encourage testing for her two oldest daughters, ages 26 and 28, who had already finished having children, but not for Jessica, who just turned 17.
“I want to wait until I’m in my 20s,” Jessica LeVasseur said. “They wouldn’t do anything about it. There’s no reason to worry now. I’d rather just be able to finish my teenage years without worrying about that.”
___
On the Net:
National Cancer Institute: http://www.cancer.gov/cancertopics/factsheet/risk/brca
FORCE support group: http://www.facingourrisk.org/index.php
Copyright 2008 The Associated Press.
