I'm live from Arlington, VA at the Alpha-1 Foundation's Critical Issues Workshop: The Promise and Challenge of GINA: Is it time for Newborn Screening for Alpha-1?
I was honored to have been invited to co-present the Parent's Perspective on Newborn Screening for Alpha-1 Antitrypsin Deficiency session. Most of you know that I love to write, and well I opted out of a formal presentation. Instead, I chose to narrate an essay I wrote, on the plane ride here, for my audience. I told the story of Grace's diagnosis surrounded with some of my opinion. On the overhead projector, I put a picture of Grace and Meghan up to make sure the doctors attending the workshop had real faces to go with the "theoretical" ideas of newborn screening they were discussing. I think the presentation went well. A few people thanked me for my thoughts, which was nice. I wasn't sure what kind of reaction I would get. Another one of the Alpha dads, Brad, presented too. He did a great job.
Anyway, I thought I'd share the essay I wrote...now that I'm re-reading it, I'd like it to be more concise, but it isn't bad for a first draft. haha
I grew up with a mother who worked as a clinical nurse specialist in obstetrics. Along the way, I listened to her discuss newborn screening tests that her team's would administer. So, I had an advantage of understanding some of the metabolic disorders such as PKU, fatty acid oxidation disorders, and cystic fibrosis when I went to the hospital to have my first baby. I remember being reassured that I would likely know if something genetic had "landed" on my child.
Unfortunately, I developed a serious complication of pregnancy called severe preeclampsia, and I became very ill with a baby failing to grow, stroke-worthy high blood pressure, as well as failing kidneys. Yet, here I am alive and standing before you thanks to magnesium sulfate.
My daughter, Grace, was delivered six weeks early weighing in at 3 pounds, 14.5 ounces. She was quickly assessed and sent to the NICU. There, she rapidly developed jaundice and received phototherapy. Her total bili was 30.
Jaundice is expected in premature babies, but after two weeks, Grace's natural color was returning. However, our neonatologist indicated that something might be wrong with her liver or bile ducts because her direct jaundice levels hadn't resolved. Close to that time, we received the results of Grace's newborn screening. I sighed a sigh of relief when it all came back normal.
This soothed some of my worries about Grace's jaundice, and I figured it was just an immature liver from being born too early. A few days later, a pediatric gastroenterologist from our local children's hospital found my husband and I in the NICU. We didn't know she was coming. Grace's team had grown concerned by her pale stools and the fact that she had lost 14 ounces since being born. The GI doctor immediately started asking us questions about a family history of liver or lung disease. We couldn't remember any and were quite confused by her questions.
Then, the GI said that she suspected that Gracie had Alpha-1 Antitrypsin Deficiency. "Alpha what?" My husband and I sat there stunned. I remember asking her to say it again because I had not heard of it. I searched my brain trying to recall if I'd ever heard my mom say those words. Nope. The GI doctor then explained that it was genetic and that my husband and I might carry genes for the condition.
Suddenly, I remembered Grace's newborn screening results, and I interrupted. "Um, but her newborn screening all came back normal. This can't be right." Well, I was wrong. Grace did have ZZ Alpha-1, and I was about to enter very uncharted territory. She became sicker and sicker, and we were introduced to the idea of a liver transplant as a possibility. I began absorbing any kind of information I could get on Alpha-1, which in 2002 wasn't much, and there was very little information on the liver. I somehow stumbled upon a message board for Alpha-1 and left Grace's story there. A few weeks later, a wonderful woman named Mary answered me. Her son had had a liver transplant, and she took me "under her wing." I learned more and more, and along that learning path, Grace's liver issues began to resolve around six months old. We were ecstatic, but then faced a different challenge. How the heck would we raise Gracie with the knowledge she had Alpha-1?
Obviously, when you learn you contributed genes for a life threatening condition to your child, there is a process you go through -- a big thing called grief, followed by guilt. It took some time to work through the stages of grief and arrive at acceptance, but we did it. And, we also gained some much needed insight from Alpha-1.
Life is not guaranteed. Grace was not guaranteed. We suddenly knew how to find joy in simple things. That may sound very cliche, but it is true. Alpha-1 is a blessing because it led me to my beautiful daughter, Grace, and another micro-preemie miracle, Meghan. Both of our daughters have ZZ Alpha-1.
Their journey with Alpha-1 led me to this community of brave women, men, and children appreciating their gift of life with Alpha-1 and sometimes with donated organs. There is just something so very special about Alphas - something bright of spirit and heart. I can't quite form the right words to describe them, but I do know this:
Identifying children with Alpha-1 at birth is needed. Proper treatment and protections can be put into place to ensure damage to the lungs and liver are minimized. We teach our girls to avoid exposure to cigarette smoke, excessive dust or fumes, and to tell us if they think a cold virus has affected their breathing. We stay inside on poor air quality days, and overall, encourage proper nutrition along with a healthy weight.
These are all common sense health habits, but they help Alphas. I've met far too many adult Alphas who wished they never smoked or just took general good care of themselves. I know that there is not a lot of research to say these measures we take will actually benefit my children, but here is a benefit I've found through experience:
My daughters have a healthy understanding of their Alpha-1 from an emotional and psychological viewpoint. Because they've grown up with Alpha-1, it is their normal. In fact, if they were here today, they would willingly introduce themselves as Alphas.
They attend support group meetings where they have other child peers, and they understand some kids get "new" livers. So, while I support newborn testing, I also understand that a follow-up support system must be in place after a diagnosis. We've been very lucky to have found other families who have diagnosed children living in our area. Before newborn screening can be valuable, we'll need a support system solidly in place for parents and children.
Thank you for letting me share my perspective. In my opinion, information is power. We need newborn screening, and here I am ready to help with that initiative. It was an honor to be here today, and I'll leave you with one last thought:
Long live the Alphas!
Showing posts with label Genetic Information Nondiscrimination ACT. Show all posts
Showing posts with label Genetic Information Nondiscrimination ACT. Show all posts
Thursday, September 18, 2008
Wednesday, May 21, 2008
Celebrate!
Alpha-1 Foundation, Association Celebrate GINA signing; Plans Under Way to Discuss Implications, Opportunities for Alpha-1 Detection
MIAMI – The Alpha-1 Foundation and Alpha-1 Association today applauded President Bush’s signing into law the Genetic Information Nondiscrimination Act (GINA), and began making plans to take action based on the new federal legal protections.
Under GINA, companies would no longer be able to use genetic information such as a person's predisposition for lung disease, breast cancer, sickle cell or diabetes to make insurance or job decisions.
“Our community has been involved for more than a decade in the effort to bring this essential legislation into law,” said John W. Walsh, President and CEO of the Alpha-1 Foundation and President of the COPD Foundation. “We’re all celebrating a giant achievement today.”
According to Jan Petersen, Chair of the Alpha-1 Association, “the Alpha-1 community has played a significant role in advocating for the passage of this legislation and now celebrates the progress we have made. I thank all of those in the Alpha-1 Community who helped us to get to this point."
“Great news on a hard-fought battle,” said Greg Hules, Board member and Immediate Past Chair of the Alpha-1 Foundation. “The efforts of the many people involved will make a huge difference in the quality of life of those affected with COPD. You know you’re alive when you have the ability to make a positive difference in this world.”
Dennis Pollock, an Alpha-1 Association Support Group Leader from Oklahoma, was at the White House to represent the Alpha-1 community as President Bush signed GINA into law.
The Foundation’s Ethical, Legal and Social Issues Working Group, with representation from its Medical and Scientific Advisory Committee, will be meeting in the next two months to discuss the implications and opportunities that this legislation may present for Alpha-1 Detection, said Marcia Ritchie, Foundation Vice President and Chief Operating Officer.
The working group will also discuss the development of a birth screening workshop to be held in the fall of 2008. This will be a follow-up to the Foundation’s Gordon L. Snider Critical Issues Workshop Series No. 8, “The Impact of Genetic Testing: Ethical, Legal, and Social Issues”, held in October, 2000.
Partners with the Foundation and Association on the initiative to have GINA become law included the Congressional COPD Caucus, co-chaired by Sens. Mike Crapo, Blanche Lincoln and Reps. Cliff Stearns and John Lewis; the American Association for Respiratory Care; and the Genetic Alliance.
The House voted 414-1 for the legislation a week after it passed the Senate on a 95-0 vote. The bill would bar health insurance companies from using genetic information to set premiums or determine enrollment eligibility. Similarly, employers could not use genetic information in hiring, firing or promotion decisions.
Each person probably has six or more genetic mutations that place them at risk for some disease, according to the National Human Genome Research Institute. That does not means that a disease will develop, researchers said, just that the person is more likely to get it than someone without the genetic mutation.
Congressional efforts to set federal standards to protect people from genetic discrimination go back more than a decade, to a time when there were only a small number of genetic tests.
But now, with the mapping of the human genome in 2003, people have access to far more information about their hereditary disposition to potentially life-threatening afflictions such as Alpha-1, cystic fibrosis, Huntington's disease or Lou Gehrig's disease.
# # #
About the Alpha-1 Foundation:
The mission of the Alpha-1 Foundation is to provide the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency. For more information, please visit: www.alphaone.org.
About the Alpha-1 Association:
The mission of the Alpha-1 Association is to identify those affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improve the quality of their lives through support, education, advocacy, and research. For more information, please visit: www.alpha1.org.
MIAMI – The Alpha-1 Foundation and Alpha-1 Association today applauded President Bush’s signing into law the Genetic Information Nondiscrimination Act (GINA), and began making plans to take action based on the new federal legal protections.
Under GINA, companies would no longer be able to use genetic information such as a person's predisposition for lung disease, breast cancer, sickle cell or diabetes to make insurance or job decisions.
“Our community has been involved for more than a decade in the effort to bring this essential legislation into law,” said John W. Walsh, President and CEO of the Alpha-1 Foundation and President of the COPD Foundation. “We’re all celebrating a giant achievement today.”
According to Jan Petersen, Chair of the Alpha-1 Association, “the Alpha-1 community has played a significant role in advocating for the passage of this legislation and now celebrates the progress we have made. I thank all of those in the Alpha-1 Community who helped us to get to this point."
“Great news on a hard-fought battle,” said Greg Hules, Board member and Immediate Past Chair of the Alpha-1 Foundation. “The efforts of the many people involved will make a huge difference in the quality of life of those affected with COPD. You know you’re alive when you have the ability to make a positive difference in this world.”
Dennis Pollock, an Alpha-1 Association Support Group Leader from Oklahoma, was at the White House to represent the Alpha-1 community as President Bush signed GINA into law.
The Foundation’s Ethical, Legal and Social Issues Working Group, with representation from its Medical and Scientific Advisory Committee, will be meeting in the next two months to discuss the implications and opportunities that this legislation may present for Alpha-1 Detection, said Marcia Ritchie, Foundation Vice President and Chief Operating Officer.
The working group will also discuss the development of a birth screening workshop to be held in the fall of 2008. This will be a follow-up to the Foundation’s Gordon L. Snider Critical Issues Workshop Series No. 8, “The Impact of Genetic Testing: Ethical, Legal, and Social Issues”, held in October, 2000.
Partners with the Foundation and Association on the initiative to have GINA become law included the Congressional COPD Caucus, co-chaired by Sens. Mike Crapo, Blanche Lincoln and Reps. Cliff Stearns and John Lewis; the American Association for Respiratory Care; and the Genetic Alliance.
The House voted 414-1 for the legislation a week after it passed the Senate on a 95-0 vote. The bill would bar health insurance companies from using genetic information to set premiums or determine enrollment eligibility. Similarly, employers could not use genetic information in hiring, firing or promotion decisions.
Each person probably has six or more genetic mutations that place them at risk for some disease, according to the National Human Genome Research Institute. That does not means that a disease will develop, researchers said, just that the person is more likely to get it than someone without the genetic mutation.
Congressional efforts to set federal standards to protect people from genetic discrimination go back more than a decade, to a time when there were only a small number of genetic tests.
But now, with the mapping of the human genome in 2003, people have access to far more information about their hereditary disposition to potentially life-threatening afflictions such as Alpha-1, cystic fibrosis, Huntington's disease or Lou Gehrig's disease.
# # #
About the Alpha-1 Foundation:
The mission of the Alpha-1 Foundation is to provide the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency. For more information, please visit: www.alphaone.org.
About the Alpha-1 Association:
The mission of the Alpha-1 Association is to identify those affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improve the quality of their lives through support, education, advocacy, and research. For more information, please visit: www.alpha1.org.
Tuesday, May 20, 2008
Genetic Information Nondiscrimination Act will become law tomorrow!
President Bush will sign the Genetic Information Nondiscrimination Act (GINA) into law tomorrow. One of my Alpha-1 pals, Dennis, who actively lobbied for this historic legislation will be in Washington D.C. to celebrate the day!
Woohoo!
Woohoo!
Tuesday, May 13, 2008
In the Home Stretch
The following article will appear in an upcoming issue of the Alpha-1 News. Please enjoy this advance copy. Alpha-1 Association copyrights apply.
On two recent beautiful spring days, the "Ayes" went up against the "Nays." On their home fields, fans all around the country waited to hear word. Some trolled the Internet for any bit of news. A few monitored C-SPAN to see it for themselves. Some witnessed the events in person. Others went about their day unaware of the goings on. This mother went about her normal work day, but remained distracted hoping for the future of all Alphas. Eventually word began to spread.
In Congressional Stadium, history unfolded as rookies and veterans alike took a swing at passing the Genetic Information Nondiscrimination Act, known simply as GINA. At home plate, each of them answered with an aye or nay. Gradually, nearly all hit a home run to enact this historic legislation. Cheers erupted from fans all around the U.S. The “Ayes” had won the pennant.
Thirteen years after its first introduction, GINA was passed by both the Senate on April 24th and the House on May 1st. We’re in the home stretch now. President Bush is expected hit a grand slam by signing GINA into law. The goal of GINA is to protect individuals against discrimination based on their genetic information when it comes to health insurance and employment. Alphas and those, who have yet to be diagnosed, will be able to enjoy new protections for health insurance and employment.
The hope of GINA is to protect all Americans by prohibiting insurers in both the group and individual health insurance market from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to determine eligibility or establish premiums. It further prohibits employers, including employment agencies and labor organizations, from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to make hiring or promotional decisions, or when determining eligibility for training programs.
My young Alphas, Gracie and Meghan, don't understand the significance of this historic legislation yet. What they know is they've spent their whole lives growing up with Alpha-1. They understand that support group meetings, blood tests, ultrasounds, examinations, and simple protections for their lung health are normal. They love their adult and child "Alpha friends" alike. They know no other reality. GINA is a beginning for them...a beginning free from a lifetime of possible genetic discrimination. GINA is a beginning for all Alphas…and all Americans. We still have work to do, but Alpha-1 Association members are united together. Go Team Alpha-1! We’re in the home stretch now.
On two recent beautiful spring days, the "Ayes" went up against the "Nays." On their home fields, fans all around the country waited to hear word. Some trolled the Internet for any bit of news. A few monitored C-SPAN to see it for themselves. Some witnessed the events in person. Others went about their day unaware of the goings on. This mother went about her normal work day, but remained distracted hoping for the future of all Alphas. Eventually word began to spread.
In Congressional Stadium, history unfolded as rookies and veterans alike took a swing at passing the Genetic Information Nondiscrimination Act, known simply as GINA. At home plate, each of them answered with an aye or nay. Gradually, nearly all hit a home run to enact this historic legislation. Cheers erupted from fans all around the U.S. The “Ayes” had won the pennant.
Thirteen years after its first introduction, GINA was passed by both the Senate on April 24th and the House on May 1st. We’re in the home stretch now. President Bush is expected hit a grand slam by signing GINA into law. The goal of GINA is to protect individuals against discrimination based on their genetic information when it comes to health insurance and employment. Alphas and those, who have yet to be diagnosed, will be able to enjoy new protections for health insurance and employment.
The hope of GINA is to protect all Americans by prohibiting insurers in both the group and individual health insurance market from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to determine eligibility or establish premiums. It further prohibits employers, including employment agencies and labor organizations, from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to make hiring or promotional decisions, or when determining eligibility for training programs.
My young Alphas, Gracie and Meghan, don't understand the significance of this historic legislation yet. What they know is they've spent their whole lives growing up with Alpha-1. They understand that support group meetings, blood tests, ultrasounds, examinations, and simple protections for their lung health are normal. They love their adult and child "Alpha friends" alike. They know no other reality. GINA is a beginning for them...a beginning free from a lifetime of possible genetic discrimination. GINA is a beginning for all Alphas…and all Americans. We still have work to do, but Alpha-1 Association members are united together. Go Team Alpha-1! We’re in the home stretch now.
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