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.

4 comments:

scientificmom said...

Jen:

I just found your blog by doing a Yahoo search for "alpha-1 ..." and "newborn screening." I am so happy to find you! My daughter was diagnosed at age 3.5 with alpha-1 (SZ) after developing an enlarged, fatty liver that was actually caught a year earlier (we just didn't know the cause for a year). Part of the delay in diagnosis is that she (and a brother) also have cystic fibrosis and the pulmonary docs assumed her liver issues were due to that. I took her to a gastroenterologist on a whim who made the additional diagnosis. Her liver is totally fine now after being on Ursodiol.

I have never been able to find another mom with an alpha child. Everyone keeps telling me it never shows up until adulthood, but obviously that's not true!

Can you tell me how they would screen for alpha in newborns? Would they just do a genetic test for the types (S, Z, etc)?

You can contact me at kimberly@guthco.com
Kim

caseyleigh said...

Wow, Jen! You have such a way with words! I couldn't agree with you more. After getting over the initial shock of Hank's diagnosis with Alpha 1 we considered ourselves blessed to be able to protect him as a child and help him make decisions about hobbies, career, etc that will help him down the road.

Childlife said...

Brilliant post, Jen -- It is just heartbreaking to think of all that those who are undiagnosed face during their lives, trying to understand what is happening with their health.

You are doing such a lovely job of teaching your girls about Alpha-1 and I just love reading your comments over here and seeing how you are helping other families. I've said it before, but I'll say it again, you're amazing! :)

~Denise~ said...

You are a remarkable woman Jen. A woman your daughters can grow up to emulate.