Tuesday, February 19, 2008

Pay It Forward

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 birth rate of Alpha-1 is approximately 1 in every 2500 births. This is actually similar to the birth rates for cystic fibrosis, and most readers of this blog likely recognize that condition. It is also passed in a similar genetic fashion to CF. A mother and a father much each pass the Alpha-1 gene to a child in order for a child to obtain Alpha-1 Antitrypsin Deficiency. CF is passed in the same way with a different gene. So, why is it that Alpha-1 is so underrecognized?

I admit that I had never heard of it before Grace was diagnosed. Although since then, I've heard it mentioned on the television shows ER and House. I'm sure as most people watched those shows they let the words Alpha-1 Antitrypsin Deficiency just skirt into their present and then quickly evaporate out of their memories. Rightfully so, I suppose. Alpha-1 Antitrypsin Deficiency doesn't exactly roll off the tongue with ease.

"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. I even wondered what the Alpha-1 protein looked like. Image courtesy of Wikipedia:

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 are slowly losing lung or liver function. They don't know that they should be protecting themselves from cigarette smoke, maintaining a healthy body weight for good liver health, and 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 maintain current lung function. This medicine is not approved in children though, so my girls can't have it yet. :(

So where am I going with this rambling? My children are diagnosed, and I view that as a blessing. I can help 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.

Not only can I help my girls, I can help others in the Alpha-1 community. From time-to-time, I meet parents of newly diagnosed children who have Alpha-1. Most of the time, I meet these parents online. There stories aren't the same as mine, but they are familiar. Their stories display a combination of fear, guilt, and anxiety for the future. Often, all that they hear/see is the worst possible outcome. I can help them see the shades of gray that make up Alpha-1.

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. Denial is my friend, and I'm sure I'm not the only one who uses it as a coping mechanism.

I only hope that by sharing my thoughts here in cyberspace that I can help others dealing with Alpha-1 in their lives...whether that is yourself, your loved ones, or your acquaintances. I know it helps me to have my blog as a release...a release of stress, of worry, and of fears.

It helps me to pay it forward.


~Denise~ said...

And thanks to you, I know what Alpha-1 is and can recognize it when it's mentioned on those shows.

Mama said...

knowledge is power!

Jen_miracles said...

You do a wonderful job, Jen, of paying it forward. By educating others and being an advocate for your girls, you've spread the word about Alpha-1, and that's a great thing.

Lora said...

Thanks for being an advocate for families affected by Alpha-1. I, like you, was terrifed by the diagnosis of my boys. I had heard of Alpha-1 about 3 years ago because I found out that my brother was a carrier. It was mentioned that my kids should be tested, but I thought nothing of it because they seemed fine. Also, I had never heard of Alpha-1(even as a nurse). I was very surprised when I learned from our doctors that it was as common as cystic fibrosis. Who knew? If only there were enough voices to speak up because that really is what drives research. Anyway - sorry for the long post. It is just encouraging to hear someone advocate for Alpha-1. Thank you!

Jen said...

Thanks for all of your good thoughts everyone. Sometimes, it is tough being a mommy to 2 children with a genetic disorder no one has heard of.


Childlife said...

Jen - You are an amazing advocate for the Alpha-1 community and I know you are impacting lives for the better. I'm proud to know you!

Anonymous said...

Hi Responding to your worry about your schools music program. We had a problem too. We worked on fundraisers and donations. We sold t-shirts and had holiday sales. Agood fund raiser was an ice creame social we invited the whole town. I have heard of strawberry and peach festivals. Also just donations form businesses might help good luck . We must fight for our kids in many ways health and social and school. The schools belong to all of us take care you are in my thoughts and prayers Dianne ps you are a good Mom