5.01.2009

Alpha-1~

My regular Frugal Friday post will return next week but today I have something important to share...



I don't normally post personal things on this blog, but the month of May is Alpha-1 Awareness Month, and because this disease is very much a part of my family's life, I felt strongly that I want to share a very personal story with all of you.

This post is going to be wordy, but I hope that you will take the time to read it, and to learn a little bit about my family and about Alpha One Antitrypsin Deficiency.


Alpha-1 is a relatively common (but fairly unknown) genetic liver disease affecting an estimated 100,000 people in the United States although to date only about 10,000 people are officially diagnosed with Alpha-1. I will explain more about the details of the disease as I tell you my story.




Mr. Three at 6 months




All Pictures by the Hubby



Almost 3 years ago, the Hubby and I learned that we were expecting our 4th child - a boy. My pregnancy was normal and the delivery was fairly easy. Shortly after delivery, however, things changed.


Just before the hospital was going to release us to bring little Mr. Three home, the pediatrician-on-call came into our room. He informed us that Mr. Three had jaundice. Jaundice in and of itself isn't necessarily scary, so I wasn't particularly worried at the news. He then proceeded to explain to us that there are two kinds of bilirubin (the cause of jaundice). The first is indirect bilirubin. It is the common cause of infant jaundice and isn't usually something to be overly concerned about if kept in check. The second is called direct bilirubin. Whenever there is an elevation in direct bilirubin, it is an indication that something more is wrong. The cause of Mr. Three's jaundice was an elevation in his direct bilirubin, so our doctors were concerned.


And the testing began. Test after test for what seemed like an eternity. Poor Mr. Three didn't have anywhere on his little heels that didn't have a tiny scab from a heel prick for bilirubin level testing. He wasn't gaining weight even though he ate constantly, and we went to the pediatrician daily for weigh-ins.







One of my more painful memories of this time occurred one Sunday as I was changing his diaper in the Mother's room at our church. A little girl who was there with her mother stared at him for a long time, and said finally, "Your baby is REALLY skinny."



"I know" is all I could manage to say back.



Everyday I looked at him as if I were willing him to gain weight, and hoping that his eyes would look less yellow to me. And everyday he was just as skinny, and just as yellow.


And still the testing continued. What I considered to be the scariest of the tests was one they performed for a condition called Biliary Atresia which would have required almost immediate surgery. They strapped my poor, tiny, yellow baby to a huge table and gave him something (it's been two years and I'm fairly good at suppressing painful memories, so I don't remember what it was) through an IV, then put him in what I think was an MRI machine (suppression again) to watch and see if it passed from his liver into his intestines. After two hours, barely any of it had passed through. But "barely any" was enough. And one of our amazing GI Docs called as soon as he heard the news to relieve us. He was relieved too.









But, then the diagnosis came from a simple blood test and even though it didn't require immediate surgery, it wasn't any better. Alpha One Antitrypsin Deficiency. And not only that, but the most severe version of the disease - a type known as ZZ (referring to the genetic code on the DNA).


"WHAT? What's that?" We'd never heard of it, and I bet most of you haven't either.


Alpha-1 is a genetic liver disease that must be inherited from both parents. Alpha One Antitrypsin is a protein that is produced by the liver. It's function is to protect the lungs from the body's own enzymes. So the disease can actually effect both the liver and the lungs. If there is not enough Alpha-1, the body can't adequately protect the lungs and they suffer from increased problems with COPD, emphysema and other related illnesses. There are two reasons why Alpha-1 can be deficient in the body. Either the liver doesn't produce enough of the protein, or it produces a deformed version of the protein that gets trapped in the liver causing liver damage.



Many times, the disease isn't caught during childhood because the person doesn't have difficulties with their liver per se. The fact that we discovered this diagnosis in Mr. Three during infancy gives him an increased chance for cirrhosis and possible liver transplant because obviously his liver isn't working as well as it could.



As scary as this was, it got even scarier when our GI docs urged us to have our other three children tested. Prior to Mr. Three's diagnosis, my husband and I were not even aware that we carried the gene for Alpha-1. So at this point, we weren't sure what to expect. Of course, statistically speaking, the likelihood of our other children being anything but carriers of the disease was low since neither my husband nor I showed any signs of the disease, and we already had one child with a confirmed diagnosis.



But, then the results came back and we learned that our family is an anomally. BOTH of our other sons also have Alpha-1 - with a ZZ allele. We were devastated. We learned that my husband and I are each only carriers of the gene, however, because although there is no known gender link, our three boys all suffer from this disease while somehow our daughter escaped without even being a carrier of the gene.









Mr. One at 18 months






Mr. Two at 1 month



Right now, all three of my boys are fairly healthy. Our wonderful docs have told us to simply treat them like any other children. But, sometimes I worry. Okay, I worry a lot. I look at their beautiful angel faces and wonder what this disease will mean for their futures. I worry that their impending liver biopsies will indicate cirrhosis. I worry that although they are healthy today, liver transplants may loom in their futures. I worry that even if they make it to adulthood without much liver difficulty, they still have the possibility of lung problems. I just worry.


Right now, Alpha-1 has no cure, but research continues. Here is a link to the Alpha One website. Please take a minute to go to the site and learn what you can do to help.


Everyday I look at these little faces and pray for a cure. ~

64 comments:

Kara said...

I am so sorry, I had no idea. Your cute family will be in my prayers!

Funky Junk Interiors said...

Thanks for sharing your story. I gasped when I heard all 3 had it! I've just sent a prayer for your family.

Donna

p.s. I'd worry too. It's a mommy's job.

Jen - Balancing Beauty and Bedlam said...

Wendy - thank you so much for sharing your heart with us so we can be specifically lifting your family up in prayer. These are the things that are really important in blog land....

pat said...

Wendy,
Thanks for sharing information about this disease. To be honest with you I have never heard of it. I am glad that you did make me aware ofthis and I will defintely go to the website to find ut more and to make a donation on behalf of your children. I will remember your family in my prayers. You area remarkable woman and have amazing strength.
Pat {one of your customers}

Meredith said...

Thank you for sharing your story about your boys. My sister and I (Of Tuesdays with Molly) both have babies the same age, 1 now, and both have had complications of one degree or another, and both have struggled in the weight department and my sister's baby us currently undergoing testing. I can somewhat relate to how your heart aches. Your boys are beautiful - thank you for sharing and prayers are indeed coming your way.

Holly said...

Even though I lived the story along with you as you were going through it, it still makes me cry to read it all written out like this. I love your little ones. It is a wonderful thing you are doing sharing this personal story because it may be a clue to the answer that some people out there are looking for. Knowledge is power. Give the kiddos a love from me.

Amber said...

Thanks for sharing your story! My mom and I are all too familiar with endless tests as a child and chronic illness. I'm thankful your boys are healthy now and am praying with you that they do find a cure for their futures!

Linda said...

My prayers added for your family!
I know when I feel a bit whiny about the chronic illnesses I have I then often realize that others are facing worse things. And all others who are healthy should always thank God for being so.
God be with you all in this process!
Linda

Myra Belle said...

I have never visited your blog until today. So glad I did--your sweet family will be in my prayers tonight.

Love,

My.

Rose Charles said...

Thankyou for sharing this, it's not something I had heard of before, it must be hard for you all X

Both me and my daughter were born 7 weeks premature, and although they say it's not a genetic thing, we both suffer with pretty poor immune systems (I've got M.E. now).

It's always a worry not knowing if they will get sick in the future, but I guess all we can do is hope that everything is going to be ok and enjoy the healthy happy times X

Rose XXX

mindingmomma said...

I had no idea.

Adding my prayers for a cure.

Sandy Toes said...

Thank you for sharing this~ being so honest....
sandy toe

LuLu said...

thank you for sharing such a private family story. I have learned so much by this post and the website. Sending prayers for a cure and praying for the researchers who are working on finding a cure.
LuLu

Stacey @ The Blessed Nest said...

Thanks for sharing your story, and bringing this disease to awareness!! I just said a prayer for your sweet boys and for you too.
Stacey

Dawn said...

Oh, Wendy! I'm so sorry that your family has to go through all of this!

My thoughts are with you!

Doris the Great said...

As moms, nothing brings us to our knees quicker than an emergency with our children. I'm fortunate to have 4 healthy daughters. My last girl was a twin; her sister didn't survive and she was touch and go for a while. But she's an extremely healthy 16 yr old today.

Makes us feel so helpless, doesn't it. I'm so sorry for this for you, but we have to believe that this will never present itself as a future problem. God bless!

Shannon said...

Thank you for sharing your story and spreading awareness. I have never heard of Alpha-1. I will go read more about it and will be praying for your family.

Laura said...

Wendy-thank you for sharing your story. I have tears in my eyes as you described your fear for your children. May they remain healthy - my thoughts & good wishes are with all of you. I'm going to read more on this now.

Darlene said...

Wendy, I have never heard of this. I am going to go read more about it. I will be lifing your family up in prayer that a cure can be found and your boys will never even feel an effect from it.

Fun and Fancy Free said...

Thank you for sharing your story. I had no idea and knew nothing about this until today.

Take care!

Stacy said...

Here here sister. A cure will be found. We moms of children with life threatening/altering conditions must keep that determination alive!

My heart is with you and you know if there is ever anything you need, contact me.

Thanks for sharing your story.

~Stacy

blondiensc said...

thank you for sharing this, we all need to be aware of these sorts of issues, I wish your boys a healthy future, snuggle them tight always..my heart and thoughts are with you Wendy~

JulieP said...

{hugs} Thank you for sharing your story and enlightening us on the topic.

Tracy is ... Loving Pretty Things said...

I will keep your family in my prayers and will do some research about Alpha-1. Thank you for teaching me something today.

Have a special weekend with your boys.

big hugs...TGIF!

xo

Nice and Easy Antiques said...

Dear Wendy, thank you so much for teaching us about the disease, we hope that a cure will be found to help your precious boys and all of those in need!

Jill said...

Thanks so much for sharing...I will hold you and your family close in my prayers.

Many Blessings!

melissa said...

Wendy~thanks for sharing this with us~I had never heard of it. Your family is beautiful and I pray they will find a cure. Thanks for a great post, and can I tell you that your little party last Friday brought more people to my blog in one day than I have ever had before?? Thank you~you're a star! :)

Kasey said...

thank you for sharing your story, its such a double standard huh!?
Hoping he stays healthy and strong, and hoping to find a cure.
xo

Amanda @ Serenity Now said...

Thanks for writing about this today! I didn't know anything about this. It was great that you took the time to inform us!!! Your children are beautiful and I love the photos!

Kacey said...

Thanks for sharing such a personal story. My heart goes out to you and your family. I hope they find a cure so you can be at ease!

Jade Creative said...

Thank you for this informative post.
Wishing you and your family much strength.
Darlene

Elizabeth @ things with feathers said...

Thank you for sharing your story, Wendy. We all have our crosses to bear, so to speak, and I really think there's strength that comes from sharing them with each other. Thank you for letting us in on one of yours.... You are an inspiration in more ways than one, my dear.

Buzzings of a Queen Bee! said...

Wendy, I am sorry you have to carry around such worry about our boys, as any mom would. I can imagine you pray for a cure every day. Thank you for sharing your story with us and I will say a prayer for your kiddos today.
Carrie

Rebecca P said...

I love reading your blog, & today I learned more about you & your sweet family. I am so sorry you have such a burden in your life.
You & your family will be in my prayers. Please know we care.
Rebecca P

Montee said...

Thank you for sharing this so that others may be aware. My son Brett is a surviving twin because of Twin to Twin transfusion. His kidneys were affected and he has one useless kidney and one that is just good enough. He has been proded and poked most of his life but has lived a pretty normal life. He is now 17. He was told 2 years ago that he would have to take medication to prolong getting a kidney transplant. He is on the fence. He also had to go through a series of testosterone shots this past year. He was about to turn 17 but had the bones of a 13 year old. The testosterone jump started him into puberty. The transplant thing is always in the back of my mind so I feel for you there. Y'all just stay strong and pray and enjoy your precious children.

Girly Stuff said...

I am glad you shared...now I can pray for you.

Is Motherhood an English word meaning to worry or what?

M.L. @ The House of Whimsy said...

Thank you for sharing your story. I was so sad to read that all three of your boys had the Alpha-One, but heartened to hear all three are thriving and doing well.
Worry comes so naturally for mothers, but as I'm sure you know, trusting completely in the Lord is the only place to turn for peace and comfort.

SarahAnne said...

Yes, thank you for sharing your story. We hardly know the paths others walk, and it's nice to know sometimes so we can be supportive. Many prayers for you and your family. I pray their good health will continue always.

Wanda said...

Wendy, I've never heard of Alpha 1 before. Thank you for sharing your story. May our sovereign God continue to sustain and give you indescribeable peace!

Wanda
mellettemoments.blogspot.com

Angie said...

Thank you for having the courage to share your family's story and the information about this disease. I pray for your sons to have a long and healthy life!

Bridget said...

Wendy...I've never heard of Alpha 1 and will certainly say a prayer for your boys and for a cure.

Here's what I know...they have a good mom. That is obvious.♥

Jen r. said...

Oh Wendy, how hard that must be! Your beautiful family is in my prayers! I hope that the medical advancements come fast and everything stays status quo! Jen

Ms. Tee said...

Wendy, I've never heard of Alpha-1 before, but I will definitely be praying right along with you for your sweet boys (and their sweet mama). Thanks for sharing this with us~ hope you have a good weekend~

Essie the Accidental Mommy said...

It all must have been terrifying! My daughter had Failure to Thrive, did not grow or gain weight for almost 2 years. Thankfully she grew almost 11 inches in the year after we got her. Obviously it is different circumstances, but there is always hope!

Sharon said...

Thank you for sharing your story with us! We went through 3 years lifting up constant prayers for our eldest daughter who ended up having two brain and spinal chord surgeries in two months time. Nothing puts you on your knees quicker than a problem with your child! The Lord is so good! I will be lifting your family up in my prayers. Always remember...prayers really DOES change things!

Jen said...

An online friend shared your blog with me...I'm also a mom to two daughters who have Alpha-1. Know that you aren't alone, and if you'd like to chat, I here in cyberspace...(also known as Wisconsin...haha)

Jen, mom of Grace & Meghan, ZZ Alphas

RaisedInCotton said...

Hi Wendy,

In my other job I am a RN and have worked with two patients (well in their 70's) who have Alpha 1. They come in weekly for their dose of IV Prolastin to protect their lungs and have done so for years. They are both active and healthy.I know it is a struggle to deal with this diagnosis but my two patients are living a full life. As a matter of fact, one of them will be 80 soon:) Blessings to your sweet family.
Carol

Embellish-Vintage Embellishments said...

My Prayers are with you!

2 Little Irish Boys said...

Bless your sweet family. My friend found out the same way in a similar story that her daughter has Cystic Fibrois-her and her husband and the gene and didn't even know if. Their older daughter doesnt' carry the gene-thankfully.
Prayers for all of you!!

FOR THE SAKE OF TIME said...

I know it was difficult to share your story with us. I will say a prayer for your beautiful boys as well as for you and your husband. Take each day and enjoy it. God will take care of you.

Charla

Melanie said...

What a story. I'm not even sure what to say except that I'm so sorry. Being a mother, I can't even imagine how you must feel every day.

onegirliegirl said...

I will pray for your family, a cure and relief. Relief of the burden. Relief of the anxiety. Relief of the fear.

I am so sorry for your family and how difficult your situation is. I have a nephew (9)who still has no diagnosis for all his problems and needs to see specialists regularly...so I know what a toll this can be on a family.

xoxo ~Lisa

The Davidson Den said...

Oh, Wendy.
I've been reading your blog for a while now. I don't comment often, but I wanted you to know that your family will be in my prayers.

Elyse said...

oh gosh, wendy. all of that testing must have been awful.

thinking of you all.

xo

MamaBug said...

So much has happened since we last spoke! Thanks for sharing your story. *Big Hugs* and lots of prayers.

Shilo said...

Thank you for sharing your story, Wendy. I too pray a cure will be found and that God will give you peace and joy as you raise those dear boys of yours.

Kim@Simply Domestic said...

My precious father-in-law had Alpha-1. I've never heard anyone else who was had it. My husband is a carrier, and are waiting to see if my girls are. I hate that your boys have it, but I'm glad it was detected early. Thank you for sharing your story. You are in my prayers!

Michelle Vandepol said...

thanks for sharing. will be praying for your family. God bless

Carisa Knox said...

My jaw hit the floor when I saw your post because I have never heard of anyone outside of my family that has Alpha-1. I KNOW what you are going through. My mother and her 6 siblings have all been tested and all but two are carriers. My mother is a carrier but has developed non-alchoholic cyrosis of the liver. Her father died recently of liver cancer (he was 80) Her younger sister is on the donors list waiting for a double lung transplant and my uncle has infusions every week. We are pretty sure that a cousin died two weeks after birth because of Alpha-1 and many of the babies born into our family have had problem with severe jaundice- all requiring hospital stays. You carry a mountain on your shoulders BUT KNOW THIS: you caught this early so there is tremendous hope for a long and lovely life for your children. My aunt and uncle weren't diagnosed until 2000. Both are in their fifties now. My aunt was an alchoholic and smoked like a chimney causing her advanced decline. My uncle has always been healthy, living a clean lifestyle and has only recently started the infusions that will likely continue for another thirty years. Beyond that, nothing in his life has changed at all. My advice to you: Don't let this dictate the tone of your life or that of your children. Your doctor is right. Nothing has to change in how you raise them. Stress the importance of healthy eating, not to drink large amounts of alchohol and not to start smoking. Don't let anyone smoke around your children and if someone in your house does, they need to quit now. Beyond the basic warnings we give our kids everyday and instilling healthy habits in them, there isn't anything more that you can do at this point but live and live well. I'll be praying for your family.

Classy Clutter said...

I know this post is over a year old but I have been reading pretty much everything on your blog for the past 2 hours. For real. :) I am so sorry to have learned that your sweet boys have to deal with this and I will keep them and your family in my prayers.

So glad to be in blogland with you!

Mallory @ www.classyclutter.blogspot.com

Regina said...

My son was diagnosed with Alpha 1 when he was seven years old. He was jaundiced, too, as an infant and had to be re-hospitalized when he was about four days old. We didn't start having issues until he was about three years old. He was diagnosed with asthma and was constantly sick with lung infections. Any little bug that would come along would turn immediately to a lung infection. After a desperate time of hospitalizations and lots of school missed (not to mention the pediatrician that was stepping in for his normal doctor that told us that he was just going to keep getting the infections and pneumonia because of the asthma) we found an allergist/immunologist that tested my boy for everything under the sun. That's when we found the Alpha 1. It was so wonderful to have a name and reason for why he was constantly sick. We've learned how to keep my boy healthy, not to mention that we now homeschool him since he was missing tons of school. He only gets sick about once a year.

Catie said...

Wow! Hi Wendy I'm a new follower to your blog and the blogging world. I just came across your blog and was added a couple links to your link party, when I came across Alpha-1. My Grandpa had the lung type of Alpha-1 and I don't know if I ever knew about it be able to affect the liver too. I'm soo sorry to hear about your kids. I'm really happy they're doing well! I too am a carrier of the gene and do not have it. My husband was never tested and sometimes I worry we could have passed it to our daughter. I'm sure some day I'll get her tested just to be safe.

Anyway, just wanted to say hello and pass on my well wishes. Best to you and your beautiful family!!!

~ Catie

http://www.catiescorner2.blogspot.com

Holly @ abakershouse.com said...

Hi, I read your blog daily and thoroughly enjoy it. I never stopped to click on your "about me" page until today and was susprised to see the info about your family's condition of Alpha-1. My husband's family has a history of this genetic problem and I appreciated your link to the Alpha 1 website. I never have seen such a source of information on this topic. Thanks for sharing your story. You have a beautiful family!
Holly @ www.abakershouse.com

Pamela @ Seeds of Nutrition said...

I just found your blog today via Facebook and your Studio 5 DIY.
I am wondering how your boys are today. In a small way I can relate to the worries about liver transplant, etc... My husband just had his 9 month post transplant check up. He received a new healthy liver end of last June. He had an autoimmune liver disease that destroyed his liver over time. I spent 5 years caring for a very sick man. The Lord graciously brought the new liver right at the time his liver dropped off a cliff so to speak. He is doing very well today.
Love your blog!
Pamela