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.

Perspective Again

One of my favorite writers is Christy Everett, who writes Following Elias The Boy That Could. Today, I was reading one of her posts about having perspective, and found these precious words of wisdom. I'm feeling inspired by her ability to articulate what I've always believed. Thanks Christy.

Children teach us who we are. Our limits, our strengths, our black holes, our hidden pearls.

All children do this.

But a deeper lesson rides on the wings of babies who enter the world on the brink of death.

They teach us not just about our own limitations but about the finite aspect of time.

Saturday, September 27, 2008

Tuesday, September 23, 2008

Fly with the Angels

There are not adequate words to say the Earth lost a precious little human being named Gavin. May you rest in peace, and may your family find solace.

Monday, September 22, 2008

Struggling

I know this post is unlike my usual entries, but today, I'm struggling. I'm tired and am having a hard time focusing on the things I need to do. My work load is piling up and deadlines are looming. Honestly, at this moment, it is hard to see my way out of it.

I know I will get myself through this round of projects, but gosh, I feel like running and hiding. It doesn't help that I'm fending off a nasty virus and sleep has been difficult to say the very least for me.

The girls are picking up on the stress level, and we've seen some unfavorable behaviors. I know this too shall pass, but I need a break. Sometimes being a professional, a mommy, a wife, a friend, and a volunteer doesn't leave much time for me. I'm depleted and exhausted.

I'm not looking for sympathy rather I'm venting all of this stress here so I can begin to feel better. There are much worse things I can think of that could be happening to me, but right now, I'm having a hard time with my load.

Sunday, September 21, 2008

Mama, Mama, Mom!

Mama, Mama, Mom!
I made this for you
It's simply beautiful
My, oh, my

A little piece of love
Wrapped in a roll of tape
Awkwardly folded
Unfolding layers of my heart
Imprinted love bolded

Mama, Mama, Mom!
Look at mine
Wow, you did a great job
My, oh, my

Blue sky eyes gleaming
Golden locks lit by laughter
Emblazoning memories
To last a lifetime
Bouncing away shimmery

Mama, Mama, Mom!
Never forget
How, they changed your life
My, oh, my

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.

Thursday, September 18, 2008

Fix You

I'm feeling a bit panicked about Gavin, and thought I'd send these lyrics to him since his Mom has this song on his blog. Please pray or send positive thoughts for him. He really needs them.

Fix You by Coldplay

When you try your best, but you don't succeed
When you get what you want, but not what you need
When you feel so tired, but you can't sleep
Stuck in reverse

And the tears come streaming down your face
When you lose something you can't replace
When you love someone, but it goes to waste
Could it be worse?

Lights will guide you home
And ignite your bones
And I will try to fix you

And high up above or down below
When you're too in love to let it go
But if you never try you'll never know
Just what you're worth

Lights will guide you home
And ignite your bones
And I will try to fix you

Tears stream down your face
When you lose something you cannot replace
Tears stream down your face
And I...

Tears stream down on your face
I promise you I will learn from my mistakes
Tears stream down your face
And I...

Lights will guide you home
And ignite your bones
And I will try to fix you

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!

Wednesday, September 17, 2008

Gavin in PICU

A few weeks ago, I mentioned that Gavin had been passed over with his gift of life. Well, it happened a 2nd and 3rd time. Now, he has been moved to the PICU, and honestly, it appears he needs many positive thoughts and prayers. So, please, if you can spare some, please send them to a sweet Gavin. He really needs them.

You can visit his blog here: http://giftforgavin.org/

Thanks!

Wednesday, September 10, 2008

Sunday, September 07, 2008

When You Were Little

"Mom, when you were little, did you want kids?"

"Well, I don't think I did Gracie. I was too busy having fun as a little girl to want to have babies. When I became an adult, I wanted to have babies."

"Good! I don't want to have babies. I might want some when I'm an adult, but I'd rather have kittens instead."

"Yes, kittens are nice. Aren't they?"

"Yes! I love kittens. They are so cute and cuddly. Plus, I don't ever want to change diapers. They are so stinky," she added as she plugged her nose.

Chefs' Imaginary Paradise

Young chefs' imaginary paradise
It's cookies and ballet for today
Lemon, chocolate chip, butterscotch
Hip, hop, skip, pliƩ

Ding, they are ready now!
Ut oh! They've burned
Throw them all out!
No! shrieks the younger

Those are my cookies
Momma scans the scene
My cookies are not burned!
They are not burned!

Arms folded, foot stomping
Fine then. They're melted though
Yay! Yummy melty lemon cookies
Tutus bouncing on their young frames

Dancing, imaginary cookie eatin' chefs
Momma's heart meltin'

The Things My Baby Says....

Meghan watched me pull on a Badger t-shirt yesterday, and said, "Mommy, it looks like you have a baby in your tummy."

I guess the fact that I have lost 15 pounds since mid-July hasn't done much for my stomach.

LOL

_______________________________________________

Here is another:

As I was helping put conditioner on Grace's hair while she was in shower, Meghan said, "Mommy, you used to be so sweet. Now, you are mean."

Her precious Daddy was away on a much-needed get away from the kids and wife weekend, and she was missing him terribly. A few stinging heart pains later, and I replied, "When I raise my voice Meghan, it is to get your attention. Why don't you try listening the first time and then maybe I won't sound so mean...even though I don't think I was being mean. You are lucky to have a mommy like me, who loves you and expects the best behavior from her daughters who I know are able to be well behaved."

Too bad I lost her attention at "When I..."

LOL

Tuesday, September 02, 2008

The Bloggess

WARNING: If you are even slightly offended in any way, please do not read any further. A post by The Bloggess has given me one of the largest cases of the giggles ever:

The Bloggess

So, please do not click on the link unless you aren't offended by crude language!

I know this is outside the scope of my typical blog posts, but I really, really, really needed to laugh until it hurts. I bow in reverence to The Bloggess and continue to wipe tears of laughter off my face. Lego better watch out!

An Alpha's First Day of School...and Grace Off to First Grade

Sigh. I have two children in school now. How did that happen? How did they grow up so incredibly "in the blink of an eye" fast? Both of the girls will now be learning entirely in German so they'll be fluent by fifth grade...which is amazing to me. I'm sure they'll have secret stories to tell each other in German along the way, and I'll have a puzzled look on my face, hoping that they aren't making fun of me. LOL ;)

Meghan had her first day of 4-year old kindergarten today, which was actually an open house to visit and learn the surroundings. She has the same teacher (Frau Savignac) that Gracie had, about which we were pleased. Overall, I think Megs did great. She was a bit nervous, and kept bouncing/jumping around though. I would call it nervous energy.

Gracie began first grade, and has her first male teacher, Herr Hasse. She was very nervous last night about it, but I quickly reminded her that she would not have to know something before Herr Hasse took the time to teach her about it first. This soothed her, and made me smile. On the way out the door this morning, I asked that the girls pose for pictures in front of our house. Unfortunately, I asked her to remove her hat and sunglasses so I would be able to see her face in the pictures. Well, this was not well received, and we had a "battle" of sorts. I had to threaten a time out before she "half-way" cooperated. You'll see anger in some of the pictures. She isn't a fan of change, and I think it came out in the form of her trying to control things a bit. :)

So, the school year is off to a start now. Homework for Gracie is just around the corner, and well, it is hot today. It is 93 right now. Tomorrow, fall will arrive...high of 72. haha