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 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!

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