This video is a public service announcement from the Alpha-1 Foundation. I know it is controversial but in my opinion, it is a fabulous advertisement. It grabs your attention, and that is exactly what we need to get the word out about the prevalence of Alpha-1. 1 in 2500/3000 births is NOT RARE. It may be considered a rare disorder, but it is NOT RARE.
Showing posts with label Testing Children for Alpha-1 Antitrypsin Deficiency. Show all posts
Showing posts with label Testing Children for Alpha-1 Antitrypsin Deficiency. Show all posts
Thursday, April 01, 2010
Wednesday, March 11, 2009
Alpha-1 Antitrypsin Deficiency Get Tested Video
It’s a familiar story for many Alphas. You’ve been short of breath. The cough you got from that chest cold two weeks ago won’t go away. Your doctor prescribes an inhaler for asthma, but it’s not helping much. You’re confused, tired and worried about what may be wrong.
The Alpha-1 Foundation's new video, “Short of Breath? Get Tested,” focuses on the symptoms of Alpha-1 and the problems Alphas face getting the right diagnosis. You can help spread awareness about getting tested for Alpha-1 by sharing this video with your friends.
The Alpha-1 Foundation's new video, “Short of Breath? Get Tested,” focuses on the symptoms of Alpha-1 and the problems Alphas face getting the right diagnosis. You can help spread awareness about getting tested for Alpha-1 by sharing this video with your friends.
Sunday, September 28, 2008
Why I Support Newborn Screening for Alpha-1
I'll never forget the moments when Grace's pediatric gastroenterologist sat Charlie and I down in some rocking chairs in the NICU and said some words I couldn't quite comprehend. She had diagnosed Grace with Alpha-1 Antitrypsin Deficiency.
According to the Alpha-1 Foundation, the occurrence of Alpha-1 is approximately 1 in every 2500 births. So, why is it that Alpha-1 is so under recognized? I admit that I had never heard of it before Grace was diagnosed.
"Alpha-1 what? How do you spell that? Can you say that again?" were some of the questions I uttered in my state of shock. So if you take that birth rate for Alpha-1 and apply that to the US population, that means there are about 100,000 people with Alpha-1 in the United States. Less than 10% of those Alphas are diagnosed.
So where did all the Alphas go? Well, a lot of those Alphas are living their lives without the knowledge that they may be slowly losing lung or experiencing liver decline. They don't know that they should be protecting themselves from cigarette smoke, maintaining a healthy body weight for good liver health, or paying attention to air quality.
Most Alphas don't know that they are Alphas.
Some of these Alphas have symptoms already. They chalk it up to being out of shape. They might be diagnosed with COPD, a catch-all term for pulmonary issues. They are accused of being smokers or alcoholics. They are alone without critical information to help them. They don't know that there is a treatment for Alpha-1. There are intravenously administered products which replace the Alpha-1 protein in the bloodstream. This medicine doesn't correct lung damage already sustained, but it can slow lung decline.
So where am I going with this rambling? My children are diagnosed, and I view that as a blessing. I am helping them to assimilate Alpha-1 into their lives. It will not come as a shock to them that they have Alpha-1. They already call themselves Alphas, and while they may not completely understand that, I can help them to understand as they grow. Therein lies my power in this situation. I do have some control. I can help them. I may not save their lives from Alpha-1, but I can remind them everyday that they have lives and to enjoy each moment like it is their last.
Each individual with Alpha-1 follows his/her own path on the journey of Alpha-1. There is no way to predict how or when Alpha-1 will run its course. As a proud "mama bear" to two beauties with Alpha-1, it is often difficult for me to acknowledge the true reality of what that means, but I strongly believe that information is power when it comes to being diagnosed early with Alpha-1. I realize that genetic discrimination is still possible, but because Alpha-1 is so influenced by environment as well as life choices, I’m still for newborn screening. The members of the Alpha-1 community are ready and standing by to support the families whose children are diagnosed at birth.
This is why I felt so incredibly honored when the Alpha-1 Foundation asked me to share my perspective on newborn screening at its 11th critical issues workshop titled “The Promise and Challenge of GINA: Is It Time for Newborn Screening for Alpha-1?” on September 18-19, 2008. Fellow Alpha dad, Brad Z., also eloquently shared his perspective on the pros and cons of newborn screening at the workshop.
The workshop’s objectives were to:
• Debate the challenges and possibilities of adding Alpha-1 Antitrypsin Deficiency to the panel of disorders tested for at birth.
• Produce a concrete set of recommendations to the Alpha-1 Foundation on how it should proceed in the field of newborn screening. A multi-disciplinary team of medical professionals, Alpha-1 community members, and representatives of Alpha-1 organizations gathered to contribute to the formation of recommendations for how the Alpha-1 Foundation should proceed with newborn screening. The two-day workshop included a history of newborn screening, the basics of Alpha-1, a Genetic Information Nondiscrimination Act (GINA) overview, testing methods, benefits of early detection, lessons from past newborn screening for Alpha-1 in Sweden and Oregon, and parent perspectives.
On the second day, participants broke into three groups to form recommendations based on policy, rationale, and feasibility of newborn screening for Alpha-1. Ideas were shared, and opinions were formed. The Alpha-1 Foundation will publish a report on the results of the workshop.
According to the Alpha-1 Foundation, the occurrence of Alpha-1 is approximately 1 in every 2500 births. So, why is it that Alpha-1 is so under recognized? I admit that I had never heard of it before Grace was diagnosed.
"Alpha-1 what? How do you spell that? Can you say that again?" were some of the questions I uttered in my state of shock. So if you take that birth rate for Alpha-1 and apply that to the US population, that means there are about 100,000 people with Alpha-1 in the United States. Less than 10% of those Alphas are diagnosed.
So where did all the Alphas go? Well, a lot of those Alphas are living their lives without the knowledge that they may be slowly losing lung or experiencing liver decline. They don't know that they should be protecting themselves from cigarette smoke, maintaining a healthy body weight for good liver health, or paying attention to air quality.
Most Alphas don't know that they are Alphas.
Some of these Alphas have symptoms already. They chalk it up to being out of shape. They might be diagnosed with COPD, a catch-all term for pulmonary issues. They are accused of being smokers or alcoholics. They are alone without critical information to help them. They don't know that there is a treatment for Alpha-1. There are intravenously administered products which replace the Alpha-1 protein in the bloodstream. This medicine doesn't correct lung damage already sustained, but it can slow lung decline.
So where am I going with this rambling? My children are diagnosed, and I view that as a blessing. I am helping them to assimilate Alpha-1 into their lives. It will not come as a shock to them that they have Alpha-1. They already call themselves Alphas, and while they may not completely understand that, I can help them to understand as they grow. Therein lies my power in this situation. I do have some control. I can help them. I may not save their lives from Alpha-1, but I can remind them everyday that they have lives and to enjoy each moment like it is their last.
Each individual with Alpha-1 follows his/her own path on the journey of Alpha-1. There is no way to predict how or when Alpha-1 will run its course. As a proud "mama bear" to two beauties with Alpha-1, it is often difficult for me to acknowledge the true reality of what that means, but I strongly believe that information is power when it comes to being diagnosed early with Alpha-1. I realize that genetic discrimination is still possible, but because Alpha-1 is so influenced by environment as well as life choices, I’m still for newborn screening. The members of the Alpha-1 community are ready and standing by to support the families whose children are diagnosed at birth.
This is why I felt so incredibly honored when the Alpha-1 Foundation asked me to share my perspective on newborn screening at its 11th critical issues workshop titled “The Promise and Challenge of GINA: Is It Time for Newborn Screening for Alpha-1?” on September 18-19, 2008. Fellow Alpha dad, Brad Z., also eloquently shared his perspective on the pros and cons of newborn screening at the workshop.
The workshop’s objectives were to:
• Debate the challenges and possibilities of adding Alpha-1 Antitrypsin Deficiency to the panel of disorders tested for at birth.
• Produce a concrete set of recommendations to the Alpha-1 Foundation on how it should proceed in the field of newborn screening. A multi-disciplinary team of medical professionals, Alpha-1 community members, and representatives of Alpha-1 organizations gathered to contribute to the formation of recommendations for how the Alpha-1 Foundation should proceed with newborn screening. The two-day workshop included a history of newborn screening, the basics of Alpha-1, a Genetic Information Nondiscrimination Act (GINA) overview, testing methods, benefits of early detection, lessons from past newborn screening for Alpha-1 in Sweden and Oregon, and parent perspectives.
On the second day, participants broke into three groups to form recommendations based on policy, rationale, and feasibility of newborn screening for Alpha-1. Ideas were shared, and opinions were formed. The Alpha-1 Foundation will publish a report on the results of the workshop.
Friday, September 19, 2008
Newborn Screening for Alpha-1 Antityrpsin Deficiency
The Newborn Screening Workshop is completed. I'm home now from Arlington, and well, I'm jumping for joy.
DRUM ROLL PLEASE!!!!! Okay, since I don't have a drum roll audio file, how about some fireworks then? ;)
The Alpha-1 Foundation will pursue a pilot study to assess the feasibility of screening newborns for Alpha-1 Antitrypsin Deficiency. WOOHOO! I'm just so excited to have been part of the process of coming to this multi-disciplinary decision in the workshop. It was an honor to present a parent's perspective, and a privilege to have contributed in the workshop overall.
I've got a great big smile on my face as I've wanted this since Grace was diagnosed in 2002. WOOHOO! It is a banner day.
The results of the workshop will be put together in an official publication and available sometime in October for those of you interested in the results. See the Alpha-1 Foundation website for further information.
DRUM ROLL PLEASE!!!!! Okay, since I don't have a drum roll audio file, how about some fireworks then? ;)
The Alpha-1 Foundation will pursue a pilot study to assess the feasibility of screening newborns for Alpha-1 Antitrypsin Deficiency. WOOHOO! I'm just so excited to have been part of the process of coming to this multi-disciplinary decision in the workshop. It was an honor to present a parent's perspective, and a privilege to have contributed in the workshop overall.
I've got a great big smile on my face as I've wanted this since Grace was diagnosed in 2002. WOOHOO! It is a banner day.
The results of the workshop will be put together in an official publication and available sometime in October for those of you interested in the results. See the Alpha-1 Foundation website for further information.
Thursday, September 18, 2008
Live from Arlington, VA
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!
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!
Saturday, August 23, 2008
Testing Newborns for Alpha-1 Antitrypsin Deficiency
I've been asked to provide a patient's perspective at an Alpha-1 Foundation Critical Issues Workshop in September regarding newborn screening for Alpha-1.
I'm a little nervous about this, but mostly because I feel so passionate about the subject. I know that this can be a sensitive subject, and as you may have guessed, I support newborn screening for Alpha-1. This is especially based on my own experience with having 2 children diagnosed, but I became quite passionate about it after Grace's newborn screening results. Alpha-1 was not included in Wisconsin's testing in 2002 when Grace was born, and it still is not included. Anyway, that was a pinacle moment for me as a parent. At that point, we were given an "all clear" based on her newborn screening panel. I hadn't yet heard of Alpha-1 or understood its complexities. I remember sighing a huge sigh of relief at the news of Grace's great results only to have Alpha-1 enter our lives about 1 week later.
Obviously, after the initial shock wore off, I've come to respect Alpha-1 in a lot of ways. No, I wouldn't purposefully ask to have a child with Alpha-1, but I honor its force in our lives. It has provided me with perspective and a healthy amount of remembering to live in the moment.
SO, what the heck is my point here? WELL, I'd like to ask that any parents of children with Alpha-1, share their opinions on newborn screening for Alpha-1. Are you for it? Against it? Please tell me why.
I know a lot of Alpha-1 parents lurk on my blog, and that is okay, but I'd love to hear your thoughts through commenting on this entry or by sending me an email to jenchar [AT] uwalumni [DOT] com.
I'd like to prepare myself for the kinds of questions I may encounter while at the workshop. It will be full of medical professionals who have influence and knowledge of Alpha-1. I hope to encourage them to allow parents to have information that is critical to the upbringing of their children.
Thanks in advance for your thoughts. I'm sorry if I rambled...can ya tell I'm nervous? haha
Jen
I'm a little nervous about this, but mostly because I feel so passionate about the subject. I know that this can be a sensitive subject, and as you may have guessed, I support newborn screening for Alpha-1. This is especially based on my own experience with having 2 children diagnosed, but I became quite passionate about it after Grace's newborn screening results. Alpha-1 was not included in Wisconsin's testing in 2002 when Grace was born, and it still is not included. Anyway, that was a pinacle moment for me as a parent. At that point, we were given an "all clear" based on her newborn screening panel. I hadn't yet heard of Alpha-1 or understood its complexities. I remember sighing a huge sigh of relief at the news of Grace's great results only to have Alpha-1 enter our lives about 1 week later.
Obviously, after the initial shock wore off, I've come to respect Alpha-1 in a lot of ways. No, I wouldn't purposefully ask to have a child with Alpha-1, but I honor its force in our lives. It has provided me with perspective and a healthy amount of remembering to live in the moment.
SO, what the heck is my point here? WELL, I'd like to ask that any parents of children with Alpha-1, share their opinions on newborn screening for Alpha-1. Are you for it? Against it? Please tell me why.
I know a lot of Alpha-1 parents lurk on my blog, and that is okay, but I'd love to hear your thoughts through commenting on this entry or by sending me an email to jenchar [AT] uwalumni [DOT] com.
I'd like to prepare myself for the kinds of questions I may encounter while at the workshop. It will be full of medical professionals who have influence and knowledge of Alpha-1. I hope to encourage them to allow parents to have information that is critical to the upbringing of their children.
Thanks in advance for your thoughts. I'm sorry if I rambled...can ya tell I'm nervous? haha
Jen
Saturday, June 28, 2008
Alright then...
When my daughter Grace was born six weeks early and underweight, she was quickly placed in our hospital's neonatal intensive care unit (NICU). At that time, I was quite ill with the effects of severe preeclampsia, and couldn't be with Grace in the NICU.
My husband, Charlie, spent much of his time being with me or Gracie in the NICU. Honestly, I have just a few memories of the first weeks of Grace's life. A medication called magnesium sulfate was dripping into my body through an IV placed in my hand. I was tired, hot, swollen, and dealing with the beginnings of post traumatic stress. At some points, Gracie was the furthest from my mind. I was trying desperately not to have seizure, and focused on forgetting that she was fighting for her life in the NICU. Whenever I became stressed, my blood pressure would spike to extreme highs in the 220/180 range and my whole body would experience shuttering and shaking. Uncontrollable actions would randomly happen to me because I had cerebral swelling and high blood pressure. I had to forget the guilt I had about my baby, and focus on me. Today as I sit here writing this, tears pool as I think about what I had to endure to survive for my precious baby girl.
As I said earlier, I don't have very many memories of that time frame, but there are two instances that stand out. These memories revolve around Grace's neonatologist, John who ended all of his conversations with: "Alright then, any questions?"
Tiny blood vessels had burst within my retinas from the high BP, and it appeared as though I had spilled black coffee across my entire field of vision. I was afraid my vision would never return to normal, and honestly, I was having trouble getting the medical professionals to acknowledge this very rare complication of severe preeclampsia. I had just finished describing my symptoms to the nurse who was caring for me post c-section.
Suddenly, a blurry dark figure of a man appeared at the foot of my bed in light blue scrubs. He wore a blue scrub cap as well, and bright red and gray wiry hairs escaped from underneath his hat. Large gold rimmed glasses adorned his face, which made his eyes appear even larger with the magnification.
"Hi, I'm Dr. G. I'm caring for your baby Grace." His voice was very distinct, and it seemed that he enunciated all of his syllables very carefully. I wondered if he was British at first, but couldn't place his accent to anywhere specific.
I responded meekly, "Oh. Hello."
"She is stable right now, but I have a bit of news that most mommies don't like to hear."
My heart skipped a beat and my head throbbed even harder than before. I frantically searched my thoughts for a reasonable excuse for an introduction like that. Charlie interrupted and said, "Is she okay?"
He quickly understood our fear, and said, "Oh. I'm sorry. Um, she is doing well, but I had to give her a hair cut so I could place her central line in her scalp. I put it on the right side of her head. She has very tiny veins, and I could only find a good one in her head. I have something for your memory book though."
He held up a tiny plastic bag which held a lock of Grace's hair. Charlie received the bag, and quickly gave it to me. I remember feeling relieved that it was nothing more than a hair cut, but wondered how she would look with a shaved "sidewall" on the right side of her head. I put the clear plastic bag close to my right eye and tried to study the hair color.
"Oh, she has dark brown hair. I never saw her hair color in the OR because she had a hat on when I got my glimpse." I searched my thoughts and suddenly thought of a baby picture I'd seen of Charlie as a newborn. He had a head of dark brown hair. Plus, my mom was a brunette too. My thoughts were almost clinical. I approached the idea of Grace in factual terms and emotions didn't come.
Dr. John responded, "She is a beautiful baby, and you should be very proud. You get yourself better, and then come visit her when you feel better. Alright then, any questions for me?"
My memory begins to fade at that point but what I do remember is his compassion and genuine concern for me and my baby. This may sound trite, but I think I remember a twinkle in his eye, too. His demeanor was happy and comfortable. His nonchalant approach actually helped me to relax and know that it was okay to get better so I could care for Gracie later.
A little over two weeks later, Dr. John greeted us by Grace's bedside in the NICU. I had been discharged from the hospital, and I was feeling a bit more like myself again. The 40 pounds of swelling was fading, and my blood pressure had begun dropping. I still felt unsteady about my experience and was quite nervous with Gracie. To me, she was incredibly tiny, and at the time, I hadn't quite bonded with her. There were so many wires, tubes, and barriers to her. I secretly wondered if I'd feel like I was her mommy. You know that kind of mommy love that leaps from within in your heart and seeps out of every pore of your existence. It just wasn't there yet, and I had an overwhelming need to feel that. I couldn't figure out what was wrong with me.
"Hello. I wanted to talk with you about Grace. She seems to have a bit of a problem with her gall bladder. Her jaundice isn't improving in the way we'd like it to improve by this age. I called a specialist to come in and figure out what is going on. She is from Children's Hospital and she'll be here tomorrow to examine Grace."
"What kind of doctor is she?" I asked.
"She is a pediatric gastroenterologist. She takes care of livers and digestive tracts."
Charlie responded, "Oh. Okay. I suppose we'll have to wait and see what happens."
I remember studying Dr. John's face through my poor excuse for sight, but rather it was the concern in his voice that caught my attention. Charlie seemed to respond to his news with concern too, and then suddenly, it was like my emotions had broken through a protective levee. My thoughts were suddenly frantic: What's wrong with her? Will she be okay? This can't be good. I can't loose my baby. It was so much work to get her here. I'm afraid. I was suddenly filled with mommy love for her. The reason we named her Grace in the delivery room was that we thought God had delivered his grace to us in the form of our daughter. My squelched love leaped out of my heart and could no longer be contained. Somehow I felt as if God was speaking to me through Dr. John, and I will forever be indebited to him for reminding me to let my love for Gracie come to the surface.
As I reflect on those brief, memorable interludes with Dr. John, I can now see yet another miracle of his careful watch of Grace in the NICU. As a result of the GI specialist coming to examine Grace, we were quickly informed she had a genetic disorder of the liver called Alpha-1 Antitrypsin Deficiency. While this was a devastating blow to us as parents, it really was a miracle for us to know this fact about Grace. The majority of children with Alpha-1 are undiagnosed. A subtle symptom of an elevated direct bilirubin past the age of two weeks is what tipped off Dr. John there might be an issue with Grace's liver.
With the knowledge we have about Grace's genetic disorder, we were then able to arm ourselves with information about Alpha-1. Because the alpha-1 antitrypsin protein is not very effective and can't often times make its way out of her liver, it is not circulating in her bloodstream. Alpha-1 has a primary purpose of being an anti-inflammatory agent within the body. Its largest job is to enter the lungs to provide a counterbalance to neutrophil elastase, which eats up bad things which we breathe in on a daily basis. Because Grace does not have enough Alpha-1, her lungs are constantly being damaged by things she breathes in such as bacteria, viruses, particulates, fumes, perfumes, and dust.
Dr. John's curiosity set something wonderful into motion. We now have knowledge and can protect Grace from some of those harmful effects of Alpha-1. We keep her away from all cigarette smoke, candles, cleaners, ozone on Ozone Action Days, and swimming pool chlorine. It helps to know that these everyday little things can save small amounts of lung tissue over time. I know that only God will control Grace's Alpha-1 outcome, but it helps to know that we won't be inadvertently making bad choices for Grace along the way. We have little to no control over how her liver functions, but we can help her breathe freely along the way. The average Alpha lives to the age of 56, but I hope and pray that she'll live a long happy life.
So I pay tribute to Grace's neonatologist. He may not know how he influenced our lives, but I will forever be in his debt. Thank goodness for wonderful physicians like you, Dr. John. Your ability to notice subtle clues is what helped me to know I could get better after preeclampsia, to know that I did have love for Grace, and to know that she has Alpha-1. I will have reverence tinged with awe in regard to you for the rest of my life.
Saturday, May 24, 2008
Our "Cover" Girls...haha
Soon to be featured on the cover of The Alpha-1 News...introducing the Alpha Girls...
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!
Wednesday, December 19, 2007
Cherished
I'm feeling sentimental as the year winds down to an end. I'm grateful for all of my blessings, and this letter I wrote to Meghan when she was 1 year old really and truly recaps how I'm feeling, which is incredibly blessed. Some of you may have seen this already, but it bears repeating. I hope Meghan cherishes it when she is older.
Dear Meghan,
When your sister was about 15 months old I was having so much fun being a mommy, I began to have what we, mommies, call baby lust. Your big sister, Gracie, was at a very fun age filled with exploration and inquisitiveness, but she had Alpha-1.
Your daddy and I eventually decided to add to our family, but that was not without reservations. We discussed having another baby from a risk benefit perspective. After all, I had a high risk pregnancy and birth experience with Gracie because preeclampsia reared its ugly head. My life and Gracie’s life had been threatened by my high blood pressure, seizure risk, and kidney dysfunction. In addition to preeclampsia, we also carried the Alpha-1 genes. It was a confusing and stressful time in our lives. We weren’t sure we wanted to inflict that possibility on another child by choice.
In looking at it in terms of benefits, we were normal adults who wanted to grow our family and cultivate the love we had for one another in our children. It wasn’t fair that preeclampsia happened to me. It wasn’t fair that we both carried the Alpha-1 Z gene. It wasn’t fair that we had no control over preeclampsia or our genes. I knew in my head that I didn’t ask for preeclampsia or Alpha-1, but somewhere deep down inside, I felt like I failed as a parent. I wallowed in the guilt, but somehow, somewhere I eventually found the strength to pull myself out of the darkness and be there for your daddy and Gracie. I’m so happy that God helped me because that led me to you, my baby girl, Meggie.
Unfortunately, I developed preeclampsia with you too, and this time at 25 weeks gestation. You were born a peanut weighing an unbelievable 1 pound, 9.5 ounces, and stretching out to be 13 inches long at 27 weeks. You were in the fight for your life. We weren’t certain that you’d be okay. Your lungs were quite immature, and your liver was not working as it should. I kept wondering what that meant if you were an Alpha like Gracie. What would it mean if you had Alpha-1 and you were born too early? What would that mean for your future lung and liver health?
After about 2 ½ months in NICU, you had finally stabilized enough to have your Alpha-1 tests. I remember getting a call from your daddy, who was visiting you in the NICU. He was there when they delivered the test results. You were an Alpha, too. My heart sank. I could hear the sadness in his voice. Tears streamed down my cheeks. It was a hard day, but I soon remembered how much of a miracle you truly were. You were not a guaranteed child. You were a gift from God.
So Meghan, I write this letter so you understand that your mommy and daddy didn’t want to take a chance with your life. We just knew deep down inside that we needed to be parents again. You were meant to be. We’re sorry that Alpha-1 is a part of your life, but we want you to know that it should not define you. You are our sweet, inquisitive, joyful daughter who also happens to have Alpha-1. Your mom and dad love you, and, yes, we will probably always struggle with guilt, but we get to experience the miracle of you. That overrides the guilt.
Love,
Mom
Submitted to Wrapped Emotions for the Gift of Every Moment:
Dear Meghan,
When your sister was about 15 months old I was having so much fun being a mommy, I began to have what we, mommies, call baby lust. Your big sister, Gracie, was at a very fun age filled with exploration and inquisitiveness, but she had Alpha-1.
Your daddy and I eventually decided to add to our family, but that was not without reservations. We discussed having another baby from a risk benefit perspective. After all, I had a high risk pregnancy and birth experience with Gracie because preeclampsia reared its ugly head. My life and Gracie’s life had been threatened by my high blood pressure, seizure risk, and kidney dysfunction. In addition to preeclampsia, we also carried the Alpha-1 genes. It was a confusing and stressful time in our lives. We weren’t sure we wanted to inflict that possibility on another child by choice.
In looking at it in terms of benefits, we were normal adults who wanted to grow our family and cultivate the love we had for one another in our children. It wasn’t fair that preeclampsia happened to me. It wasn’t fair that we both carried the Alpha-1 Z gene. It wasn’t fair that we had no control over preeclampsia or our genes. I knew in my head that I didn’t ask for preeclampsia or Alpha-1, but somewhere deep down inside, I felt like I failed as a parent. I wallowed in the guilt, but somehow, somewhere I eventually found the strength to pull myself out of the darkness and be there for your daddy and Gracie. I’m so happy that God helped me because that led me to you, my baby girl, Meggie.
Unfortunately, I developed preeclampsia with you too, and this time at 25 weeks gestation. You were born a peanut weighing an unbelievable 1 pound, 9.5 ounces, and stretching out to be 13 inches long at 27 weeks. You were in the fight for your life. We weren’t certain that you’d be okay. Your lungs were quite immature, and your liver was not working as it should. I kept wondering what that meant if you were an Alpha like Gracie. What would it mean if you had Alpha-1 and you were born too early? What would that mean for your future lung and liver health?
After about 2 ½ months in NICU, you had finally stabilized enough to have your Alpha-1 tests. I remember getting a call from your daddy, who was visiting you in the NICU. He was there when they delivered the test results. You were an Alpha, too. My heart sank. I could hear the sadness in his voice. Tears streamed down my cheeks. It was a hard day, but I soon remembered how much of a miracle you truly were. You were not a guaranteed child. You were a gift from God.
So Meghan, I write this letter so you understand that your mommy and daddy didn’t want to take a chance with your life. We just knew deep down inside that we needed to be parents again. You were meant to be. We’re sorry that Alpha-1 is a part of your life, but we want you to know that it should not define you. You are our sweet, inquisitive, joyful daughter who also happens to have Alpha-1. Your mom and dad love you, and, yes, we will probably always struggle with guilt, but we get to experience the miracle of you. That overrides the guilt.
Love,
Mom
Submitted to Wrapped Emotions for the Gift of Every Moment:
Tuesday, October 09, 2007
Research into the Impact of Testing Children for Alpha-1
I think I may investigate this opportunity to contribute to the Alpha-1 community.
Hey all you Alpha parents out there, please consider participating in this
important study within our community. To be clear, this is for the parents not
the kids. Or, if you were diagnosed as a child, this study is for you, too.
Alpha-1 Genetic Testing of at Risk Children
The objective of this study is to investigate the ethical, legal, and social
impact of testing at risk children for Alpha-1. The results will inform the
development of recommendations for health care professionals on what
constitutes disclosure of risks and benefits in informed consent or assent by
children who are considering testing for Alpha-1.
As a pre-study, we will conduct 2 focus groups: one in Denver, Colorado on
November 10, 2007 and one in Orlando, Florida on December 1, 2007. To
participate in a focus group, you must be a parent who has made a decision
to test or not to test your at risk child for Alpha-1 or an adult who was tested
for Alpha-1 as a child. To enroll in the focus group or for more information
please email marilyn.coors@uchsc.edu or call 1-303-315-0203. To participate
in the study survey, please enroll in the Alpha-1 Research Registry. The study
is funded by the Alpha-1 Foundation.
To enroll in the Alpha-1 Research Registry at the Medical University of South
Carolina, read the following information:
The Alpha-1 Research Registry is a confidential database of individuals
diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and persons identified
as Alpha-1 carriers. It serves as a resource for investigators seeking
individuals with Alpha-1 to participate in clinical trials, surveys, and other
scientific and medical data collection activities. The Registry’s Family Linkage
Program facilitates genetic research and other studies requiring family member
participation while protecting the privacy and autonomy of each family
member. The Registry is also a vital component to other Alpha-1 research
endeavors such as the Alpha-1 Coded Testing (ACT) Study and Genetic
Modifiers Study. The Registry is conducted under the direction of Charlie
Strange, M.D. at the Medical University of South Carolina. For more
information about the Registry Program, you may visit the website at
www.alphaoneregistry.org, email at alphaone@musc.edu or call toll free at 1-
877-886-2383.
Hey all you Alpha parents out there, please consider participating in this
important study within our community. To be clear, this is for the parents not
the kids. Or, if you were diagnosed as a child, this study is for you, too.
Alpha-1 Genetic Testing of at Risk Children
The objective of this study is to investigate the ethical, legal, and social
impact of testing at risk children for Alpha-1. The results will inform the
development of recommendations for health care professionals on what
constitutes disclosure of risks and benefits in informed consent or assent by
children who are considering testing for Alpha-1.
As a pre-study, we will conduct 2 focus groups: one in Denver, Colorado on
November 10, 2007 and one in Orlando, Florida on December 1, 2007. To
participate in a focus group, you must be a parent who has made a decision
to test or not to test your at risk child for Alpha-1 or an adult who was tested
for Alpha-1 as a child. To enroll in the focus group or for more information
please email marilyn.coors@uchsc.edu or call 1-303-315-0203. To participate
in the study survey, please enroll in the Alpha-1 Research Registry. The study
is funded by the Alpha-1 Foundation.
To enroll in the Alpha-1 Research Registry at the Medical University of South
Carolina, read the following information:
The Alpha-1 Research Registry is a confidential database of individuals
diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and persons identified
as Alpha-1 carriers. It serves as a resource for investigators seeking
individuals with Alpha-1 to participate in clinical trials, surveys, and other
scientific and medical data collection activities. The Registry’s Family Linkage
Program facilitates genetic research and other studies requiring family member
participation while protecting the privacy and autonomy of each family
member. The Registry is also a vital component to other Alpha-1 research
endeavors such as the Alpha-1 Coded Testing (ACT) Study and Genetic
Modifiers Study. The Registry is conducted under the direction of Charlie
Strange, M.D. at the Medical University of South Carolina. For more
information about the Registry Program, you may visit the website at
www.alphaoneregistry.org, email at alphaone@musc.edu or call toll free at 1-
877-886-2383.
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