Ed Brailey In Tribute

When I met Ed in 2005, I was a newbie to the Alpha-1 community. He and I were elected to the board of the Association that year. Previously, I had read his story in the Foundation's Alpha 1-to-1 magazine.

I was touched by his amazing dedication to give back to the COPD, transplant, and Alpha-1 communities. As a mama to two beautiful little girls who have Alpha-1, I was always looking for inspiration. Ed was pure inspiration to me.

In fact, the day we met I will never forget. He sat down next to me and said, “Jen, tell me about yourself, and about those beautiful girls I’ve heard so much about.”

That conversation created a connection.

And that, to me, is the epitome of our precious Ed Brailey – connecting Alphas one-by-one using his subtle charm and unpretentiousness.

When Alpha-1 came into my life, I felt very alone. There were not many parents of Alpha-1 children that I could find at that time.

Ed helped reassure me as I doubted how much of an impact I could make or how much I could help.

I remember the smile that grew upon his face as he said, “Jen, keep up the great work. We need to bring the kids into our group. You being here will help draw out the other parents. We’ll do it together, Jen!”

I couldn’t help but smile in return.

Ed may not have realized how much he cemented my connection to our community, but I know one thing for certain.

I promise to continue the mission until every last Alpha gets the cure.

So thank you, Ed! Our world has an Ed Brailey-sized hole in it. Your dedication, perseverance, and amazing service will be missed.

Long live the Alphas!

God speed, Ed!

All the Right Words?

During our nightly prayers, I added a new name to the very lengthy list of angels and those battling illness for which we pray. Meghan peered up at me from her bed with love on her face along with the call of sleep in her eyes.

“Megsy, let’s add a new name to our list for prayers tonight. Mommy’s Alpha friend, Ed, needs some prayers.”

“What happened to him, Momma?”

“Well, he is an adult with Alpha-1, like you. I think it was about 7 years ago that he received a new lung. They took out one of his old, tired Alpha-1 lungs, and gave him a new one. He liked it very much that he could breathe easier again. But now, his liver is pretty sick from his Alpha-1. He needs some prayers so maybe God will help his liver get better,” I replied.

As she listened, I could see the questions rising up inside of her. Her facial expressions revealed her brain was inquiring, pondering, and pensively beginning to analyze how she was like Ed. I thought, “Aha. There it is. She is beginning to realize what Alpha-1 might mean to her.”

“Mommy, what is wrong with Mr. Ed’s liver? What happened to it? I hope he gets better soon,” she whispered with a bit of fear in her voice.

“Well honey. Ed has Alpha-1 like you and Gracie. Remember how I told you that you have a liver on the right side of your body underneath your ribs?”

“Uh huh.”

“Well, when you have Alpha-1 Antitrypsin Deficiency…”

“What? Is that the real name for it?” she interrupted.

“Yup. It is. That’s a mouth-full, isn’t it?” As she nodded her head, I added, “All people have a liver which makes something called bile to help digest your food, but your liver also makes really important things called proteins and enzymes which are used in other parts of your body.”

“Oh yeah. I ‘member that Alpha-1 is a protein. You told me that a different time.”

“Yes, I did. So when you have Alpha-1 deficiency, there is something that happens inside your liver that isn’t so good. Your liver is really great at making the Alpha-1 proteins, but then something goes wrong. The way your liver makes your Alpha-1 proteins is not quite right, and they get stuck inside your liver. It is like being stuck behind a locked door that you can’t open or go through. Sometimes, though some of that Alpha-1 sneaks through the cracks around and under the door.”

“It is sneaky,” she exclaimed.

“Well Momma wishes it were sneakier. Gracie and you don’t have very many Alpha-1 proteins floating around in your blood where they should be. That is why we have to take very good care of your lungs. Remember that your blood should bring Alpha-1 proteins made by your liver into your lungs where they are important. Alpha-1 proteins are really cool little helpers in the lungs.”

“How do they help, Mom?” she asked as she wrinkled her brow and scrunched up her nose.

“I know we’ve talked about how our bodies are really great at kicking out the bad stuff that makes us sick. That is called your immune system. Well, Alpha-1 proteins are helper parts of your immune system.”

“How do they help my immune system, Momma?” I could feel my heart starting to pound a little harder as my anxiety about the topic began to increase. I thought that I had better put more of a smile on my face so I would not bias her learning or pass on some of my fears from her and her sister having Alpha-1.

With my right hand, I made a sign language letter C. “Well Megsy, when you breathe something yucky into your lungs like a germ or dust, your lungs “ask” a different kind of helper called a neutrophil to kick out that bad stuff. Neutrophils are like hungry little fish.”

I took my “chomper” hand and pretended to munch down on bad things in the imaginary land of the lung. “Neutrophils work like this. They eat up the germs and dust and keep your lungs really nice and clean so you can breathe. There is a whole army of neutrophils that clean up your lungs. That is normally a really good thing, but when you have Alpha-1 deficiency, there is a problem.” I took my right “chomper” hand and pretended to chomp down on my left fist.

“Munch. Munch. Munch. Alpha-1 is kind of like having an army of really big fish, bigger than the neutrophils. Those Alpha-1 “fish” go into your lungs when the neutrophils are done cleaning up the bad germs and dust in your lungs. Then, something cool happens again. (I outstretched my arms and pretended to use them to chomp up imaginary neutrophils in the air.) Alpha-1 takes its really big chomper arms and catches all the neutrophils before they eat up the good parts of your lungs that aren’t germs or dust. Does that make sense, Megs?”

“So Alpha-1s grab all the neu, neu, neu…”

“Yes, neutrophils. And do you remember what those neutrophils eat up in your lungs?”

“Yeah. They eat up the germs and yucky stuff we breathe.”

“Woohoo! You are a smart girl and good listener, Megsy Rose. But here is some bad news, and I wish I could change it for you. I wish I could take away Alpha-1 from you and all of our Alpha friends.”

“What’s wrong Momma?” she inquired with concern on her face.

“Well honey, your liver doesn’t make Alpha-1 proteins the right way. They get stuck behind the “door” of your liver and can’t get out except through the cracks a tiny bit. So, your lungs might get slowly damaged over many years. We really don’t know what will happen so we do our best to take care of your lungs and hope your liver doesn’t get very sick again. Both you and Grace had sick livers when you were babies, but then your livers got a bit better.”

“Why doesn’t my liver make Alpha-1s the right way?” she seemed to ask in protest.
“Because you were born that way. God made you and when you were made, you were given a liver that doesn’t make Alpha-1 the right way. But you need to remember something really important. Every person born has something wrong with them.”

“In their genes, Mom?” she guessed.

“Absolutely right Meghan Rose! You are so smart to remember that our genes are like maps for what might happen to our bodies as we grow. Not everyone knows what genes they have. In fact, we only know that you have the gene for Alpha-1, but we don’t know all of your genes. So we will do our best to take care of your lungs and liver because we know about your Alpha-1 gene.”

“Like stay inside on oze actshun days?”

“Yes. When it is an ozone action day, you and Grace must stay inside in the air conditioning so you don’t breathe that yucky air. If you did, the neutrophils would come marching into your lungs to eat up the yucky stuff, but then those neutrophils would keep eating and eating up the good parts of your lungs because too little Alpha-1 is in your lungs and can’t munch up all those neutrophils. So we just try really hard to keep those bad things from getting into your lungs in the first place.”

“The Alpha-1s can’t get that door open in my liver, huh?”

“Right Sweetie! It sometimes sneaks through the cracks of the door, but most of the time, it just stays inside your liver causing it to be just a little bit sick. Whenever the Alpha-1 gets stuck inside the teeny-tiny parts of your liver called cells, that Alpha-1 gets all mad and angry. It “throws a fit” and messes up that cell by making it swell up like water that goes into a water balloon. For some reason though, your liver is lucky. It seems to be able to do something called regenerate. That is a big word for fix itself. It keeps rebuilding your cells.”
“My liver is fixing itself when the Alpha-1 throws a fit?”

I could feel myself becoming elated that she was actually following along on the convoluted path that I had formed off the top of my head trying to explain Alpha-1.“Yes. It is. Gosh Meghan. Does this really make sense to you?”

“Yes. I think I get it Mommy, but I can’t ‘member all the right words yet.”
“Megsy Rose, you don’t need to remember all the right words. You just need to know that we love you very much, and that we’ll do our best to take care of you and your Alpha-1.” I felt myself take a very long, deep breath as I seemed to be holding it during most of the conversation.

“Ok, Mommy. So is Mr. Ed’s Alpha-1 throwing a fit inside his liver?”

“Yes, it is. Let’s pray his liver can fix itself again. Sometimes that doesn’t happen. He might need to get a new liver from someone who goes up to heaven and doesn’t need it anymore.”

“God bless Mr. Ed,” she concluded. I couldn’t help but feel enormous pride in her realization, but also some sadness as she figured out her Alpha-1 can cause bad things. God bless Meghan and her sister, Grace.

Alpha-1 Antitrypsin Deficiency Video on Genetics

GENETICS from Alpha-1 Association on Vimeo.

Alpha-1 Antitrypsin Deficiency in Children Video

CHILDREN from Alpha-1 Association on Vimeo.

Breathe In, Breathe Out

Sitting on a vinyl covered bench in the lobby of the hotel, I found myself people watching. I was waiting for the bus to return from Epcot with my family on board. I was ready to go home. The suit cases were packed, and stowed with the bell hop.

As my thoughts drifted back to the education conference I had just attended, I reflected on new information I had learned. A pediatric pulmonologist, Dr. Blake Noyes, surprised many of us by saying that we should be taking our kids, six and older, for pulmonary function tests. He shared that it is very important to ensure that Alpha-1 kids do not have undetected asthma. Because asthma causes inflammation in the lungs, it would be important to treat undetected asthma to hopefully reduce the amount of damage occurring in the lungs. While I understood his logic, I heard myself sigh as I lamented yet another thing to add to our list of surveilling Alpha-1 in the girls' bodies.

As my thoughts brought me back to reality, Meghan's blond locks bounced up and down off her shoulders as she approached me. "Mommy!" she shrieked as she launched herself on my lap. "Mommy!"

"Hi Sweetie, did you have a good time?"

"Uh huh! It was good. Daddy and Grace went to look at the gift shop."

As she snuggled on my lap, a famous face in the world of Alpha-1 appeared in the lobby. John Walsh, one of the founders of the Alpha-1 Foundation, pulled his suitcase behind him and smiled at me. He was still dressed in his suit, but had removed his jacket. The heat was oppressive in Florida this time of year.

I motioned him over to us, and said, "Hi John. I thought you might like to meet my daughter, Meghan." He approached with a large smile and one that seemed rather grandfatherly in nature.

"Well hello there Meghan. It so wonderful to finally meet you. I've heard a lot about you and your sister." He bent down to Meghan's level and cupped her face with his hand. She slumped down in her place a bit in shyness, but my heart melted. His love was powerful. John is a ravenous advocate for anyone with Alpha-1 Antitrypsin Deficiency, and here he was taking a moment to meet my baby girl, Megsy Rose. He struggles for breath from Alpha-1 daily, but there he was making Meghan feel special.

For me, it was a memorable moment. Meghan had no idea what it meant to me. She just knew another one of Mommy's Alpha-1 friends was there to greet her. I found myself wishing that Grace could have met John too. I've been in the world of Alpha-1 since 2002, when Grace was diagnosed. Alpha-1 is so much a part of my life now, and I can't imagine not having met such wonderful people, such as John.

I'm so proud to be helping our Alpha-1 community in the ways I can help, yet still remain a hopeful parent.

Hopeful Alpha-1 doesn't make my girls life too difficult.

Hopeful that I'll be able to help my girls integrate a genetic disorder into their everyday lives as they grow up.

Hopeful for a cure for my girls and all the people who live their lives struggling to breathe or coping with liver disease from Alpha-1.

Hopeful.

Alpha-1 Sucks The Life Right Out of You

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.

Alpha-1 Foundation - Finding the Cure @ Yahoo! Video

Alpha-1 Antitrypsin Deficiency and the Flu

Grace has come down with the flu, just which virus it is...I don't know.

I'm betting that many parents of children with Alpha-1 have questions about how to treat their children when they have illnesses. Hey Alpha parents out there in cyberspace! Is this a concern of yours?

My oldest baby girl, Gracie, is sick, sick, and more sick right now. Recently, we decided to switch both Grace and Meghan to Dr. Jeffrey Teckman's care. He indicated to us that we should only be using Tylenol to treat run of the mill childhood infections. Upon hearing this, we began following his orders.

But now, Gracie is going on almost day 3 of high fevers. Has anyone else noticed that Tylenol doesn't last as long as ibuprofen?

Since Alpha-1 in children is a genetic disorder of the liver, I also want to be careful of how much Tylenol we give Gracie right now. It is fine line between using Tylenol at correct dosages to treat her fever, but also hard not to imagine accidentally inducing Tylenol toxicity in her liver if we give it to her too often. Perhaps I'm a bit more of a worrier than the next Alpha-1 mom or dad, but these are things I've been mulling over today.

Even though Grace currently has a flu virus, I still want to get her annual influenza vaccination. We were told Grace and Meghan should not have the flu mist because it is live virus. So that is bad news from my kids' perspective as they already detest shots, but the flu shot contains dead virus. When they are both healthy again, I'm taking them in for their shots. I hope to be able to get them the H1N1 vaccine, too.

Anyone else out there consider these issues? Let me know via a comment. Thanks.

Stay healthy!

Fireworks Moment

As I sorted through the mound of "paper nightmare" which had been stowed away in a drawer, I tossed various papers into the recycling bin. My finger stumbled upon a crumpled post-it note, upon which "Alpha-1 Antitrypsin" was written. Tears pooled, and I was transported back to the day when Grace's pediatric gastroenterologist first uttered those words and wrote the diagnosis down for me.


But wait; let me back up a bit…

About two weeks into Grace’s stay in the NICU, her neonatologist mentioned that something might be wrong with her gallbladder, and he wanted an ultrasound with some blood work. He was so casual about it that we didn’t think much of it since Gracie was being put through the gamut of NICU experiences anyway.

In NICU with Gracie, we passed some of the time by reading her chart from top to bottom. Most of the time, we didn’t know what we were looking at but did see abbreviations in the chart that had abnormal values. I can still picture that piece of paper in my mind. The letters AST, ALT, GGT, and Alk Phos had abnormal results. We both wondered what that meant.

We asked the doctor about the ultrasound results. He said they were normal. I also asked about her blood work. He said that premature babies often have abnormal blood work, but that he was calling in a specialist from our local Children’s Hospital to check her out just in case since her direct bilirubin was still elevated.

I can’t remember the exact day that the gastroenterologist found us in the NICU, but I do remember my husband and I were caught off guard and quite confused. The doctor kept asking us if any members of our families had ever had emphysema or liver issues. I didn’t know of any and neither did my husband. I finally asked her, “Why?” Then came the words that changed our lives forever…Alpha-1 Antitrypsin Deficiency. I thought, “What did she just say? Did she just say genetic disorder? Alpha what? Possible liver transplant? Huh? How do you spell that? We carry what gene? Can you write that down for me? I don’t know how to spell that.”

One silly little piece of paper brought it all back. One bit of paper, which I clutched inside my sweaty palm desperately hoping that the doctor was wrong. One paper, which to most people, would mean nothing. One look and I was back there all over again.

Now, it is a little over seven years later.

And guess what?

Grace still has Alpha-1. Grace is growing up with Alpha-1, and lives her life knowing she has Alpha-1. I help her to understand what that means to her. Grace even helps her younger sister, Meghan, to understand Alpha-1. I’m glad they have each other.

On the day I first heard the words Alpha-1 Antitrypsin Deficiency, I had no idea of the type of journey I’d begin. I remember that it felt as if fireworks were going off inside my brain. I really couldn’t hear much except for the huge boom of Alpha-1 Antitrypsin Deficiency that day.

Now, I can sit back and appreciate the beauty and amazing Technicolor that Alpha-1 brings to our lives. I can park myself in a lawn chair, and see them streak through the yard. I can close my eyes and hear them shriek with joy. Their cacophony hits me like the boom of fire works. I love every moment.

So on this 4th of July here in the United States, I’ve shared a "fireworks" kind of moment from my life.

How about you? Share an example of a fireworks moment from your life. I’d love to hear about them.

Happy 4th of July!

Alpha-1 Antitrypsin Education Conference

Here I am in San Francisco. My girls are at home with Daddy, and I’m here to attend an Alpha-1 education conference.

I’m here to learn more about Alpha-1. I’m here to meet up with my online family of fellow Alpha-1 parents and patients. I’m here to learn. I’m here to grieve those we have lost, especially a precious little boy named Gavin who fought such a brave fight but became an angel at age 11 months.

I’m also here to get a reality check. It is often times easy for me to forget that both of my children have Alpha-1. They both have liver disease. We are very fortunate that their liver disease is currently stable. Knock wood!

This conference always reminds me of reality. That nothing is certain in the lives of my daughters. That we may get a shocking blood test result or that we may notice yellowing skin or yellow tinting the whites of their eyes. As they grow up, they may need oxygen as emphysema develops in their lungs. My girls’ bodies may fail them over time. It is just a matter of when that happens. Each Alpha is different. It is often times hard to accept that uncertainty.

But even with all of that uncertainty, I do know this. I am not alone here in San Francisco. I am here among those who know how this feels. I am among some of the bravest, most determined human beings I’ve ever met. I’m grateful for this opportunity, and for what Alpha-1 has brought to my life…knowledge that I should never take things for granted. Life is short and uncertain. I hope to keep this perspective until next year’s conference reminds me again.

Long live the Alphas.

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.

My Worlds Collide

What do you get when you cross an Alpha-1 MZ gene carrier/hypertensive momma with a developing baby who has ZZ Alpha-1?

ANSWER: SEVERE PREECLAMPSIA

Some amazing research is going on at Yale by Dr. Irina Buhimschi. She has identified that misfolded Alpha-1 protein shows up in the urine of preeclampsia-bound expectant mothers.

I've found 2 articles so far:

Key To Pre-eclampsia May Be Found In Misfolded Proteins In Urine http://www.sciencedaily.com/releases/2009/01/090130182911.htm

Preeclampsia May Stem From Malformed Proteins
Yale researchers say discovery could lead to earlier diagnosis, treatment http://www.healthday.com/Article.asp?AID=623632

Television Show Featuring Alpha-1 Antitrypsin Deficiency

Healthy Body, Healthy Mind (HBHM) takes a look at Alpha-1 Antitrypsin Deficiency and helps viewers to understand Alpha-1. The show is currently running on the Public Television Network, so contact your local Public TV Station, the TV Guide or visit the Healthy Body, Healthy Mind website for listings.

The Alpha-1 Foundation web site is currently hosting the TV show here: http://www.alphaone.org/news/health-and-wellness-series-features-alpha-1

It is also available here: http://www.itvisus.com/programs/hbhm/episode_1111_Alpha-1_Deficiency.asp

Just When I Think She Understands

Just when I think Gracie understands about Alpha-1, she blind sides me with her youth and immaturity. All of her misunderstanding is completely age appropriate, but leaves me feeling a bit unsettled. Perhaps she stirs up my own denial? I have a hard time remembering that kids need order and not confusion in their lives. Grace's ability to create her own order is quite strong especially since she is innately a worrier. I wonder when or if she'll begin to worry about Alpha-1. Anyway...

Tonight, we attended our local Alpha-1 support group meeting. Grace has always been the kind of kid who asks me questions...questions about anything...and I do mean anything. Tonight was no exception.

"Maaaaahhhhhhmmmmmmm," Grace whispered with a drawn out exhale.

"What honey?"

As she pointed to a teenage boy sitting in a wheel chair at the back of the room, she said, "What is wrong with him?"

"Oh honey! That is just Michael. He is sitting in his mom's wheel chair. Michael pushes his mom in that chair."

"Which one is his mom?"

As I pointed to his mom, I said, "Over there in the yellow and green jacket..."

Grace responded, "What is wrong with her then?"

"She has Alpha-1 just like you, Gracie. Her lungs are pretty sick, and she gets very tired if she walks too far. Michael pushes his mom in her wheel chair so she can come to our Alpha Friends meetings. Isn't that nice he does that for his mom?"

As those words came out of my mouth, I was multitasking. Inside, I was thinking about all the little conversations I've had with her about Alpha-1. I know that each conversation doesn't add up to much unless you string them all together for a larger result. I guess I had misjudged her ability to understand what I had explained. This is the hard part of being a parent to a child with Alpha-1. There is no book of rules or carefully detailed explanations...just me and my mixed up assessments of what she can and can not handle. I know that there are no right or wrong answers. I know that I am probably one of the best people who can judge what she can and can not handle, but yes, I make mistakes or make errors in judgement.

"Uh huh Mommy. That's nice," she replied. Her expression said more than her words though. Worry washed over her.

"I don't have sick lungs," she replied flatly.

"We are going to take care of you Gracie even if you get sick lungs, but most people with Alpha-1 get sick lungs when they are adults. You have a long time before you are an adult, and hopefully the doctors will find something to fix sick lungs before then."

"I don't want sick lungs, Mom."

"I know Grace. I don't want you or Meghan to ever have sick lungs, but we don't know what will happen. Let's remember to be happy that you have good lungs and a good liver now. Okay?"

"I guess so, Mom."

Insert heart pains stabbing Mom Jen's mommy heart here.

Tomorrow, hope will return to me. I have moments of weakness and denial though. It is so hard to not be able to make Alpha-1 just pack its suit case and hit the road. I can't take a light saber and stab it out of existence. I can't banish it from our lives. I can't control it or how it will make Grace and Meghan's life different. All I can do is hope and pray and banish my fears. My fears do no good. My fears need to fly into the fray...where they can't hurt me or my girls.

I'm off to call on the angels to whisper their soothing, healing melodies while I sleep.

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.

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.

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.

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!

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!

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