What started it all...{part 8} "Update on Gavin"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

Its been awhile since I directly addressed how Gavin is doing since we came home from the hospital. I've learned SOOOO much more about Alpha-1, and the more I learn, the less scared I am. The risks are still there, yes, but now I understand them a lot more.

He goes to see his Gastroentologist once a month, plus they do weight checks once a week, and they do blood tests to monitor his liver once a month. He had some fibrosis (liver scarring) in his liver biopsy, so that puts him a little closer to a liver transplant, but its not a definite at all at this point. There was no cirrhosis (liver failure), so that was a good thing! His blood work the last few months has been consistently elevated (not a good thing) and seems to be getting "worse".

The results of the blood work are not exactly straightforward though...they watch his liver proteins, cholesterol, coagulation, enzymes, and whole other bunch of things. (which I'm pretty good at reading now...I know all the abbreviations, how they affect him, etc) However, some people with liver damage/failure don't show changes, while others do. The numbers can spike one month, then go down the next. Being sick can change the numbers as well. And its not an exact science even when it is accurate.

Its more of a "see the forest through the trees" thing, where you have to look at months and months of blood work combined with everything else to really notice a trend. Month to month changes don't necessarily mean anything.

This is pretty frustrating for me (and probably for doctors, too) because there are no exact answers. They can't tell me "this means THIS and that means THAT". So its basically just playing "hurry up and wait" at this point, and will most likely stay this way for some months...just watching to see what develops.

We went to an education day for Alpha-1 last weekend and it was awesome! We learned SO much! Plus, it was just nice to talk to other people who "get it" and can talk about GTTs and PTTs like its the most normal topic in the world. We were the only people there with an Alpha-1 kid, so that was kind of a bummer. But it also got us a LOT of attention. They've never had anyone there with a liver affected baby. So most of the information and talks were directed at the older people with lung affected Alpha-1, but it was still interesting to listen to. Andre, my mom and I all got tested, too, so we'll have our results within the next month. I'm curious to see what they'll say.

The support group leader also mentioned that we might be able to get a scholarship to help pay for a trip to the National Convention this year which is in St Louis, Missouri. I *really* hope this works out because I would LOVE to meet some other parents with Alpha-1 kids. They said there are usually about 40 other families there, plus they have speakers *just* for the liver affected Alphas.

We are also signing Gavin up for a clinical study that will try to find out why Alpha-1 affects the liver in some children, but not at all in others. They will be studying 250 children around the US, and the nearest hospital to us is in Denver, Colorado. But since Andre's parents just moved outside of Denver, we'll be able to visit there at least once a year for him to be able to participate. (it runs once a year, for 5 years). They will draw his blood, take urine samples and vitals, record family history, etc. I'm very excited that this research is being done, and hopefully they will be able to find something new and useful.

So that is where we are at. I have so much information about Alpha-1 that I just want to shout from the rooftops, but I'll save that for another post. ;)

What started it all...{part 7} "Test Results"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

We found out on Tuesday that Gavin does have Alpha-1 Antitrypsin Deficiency, phenotype ZZ.

Normally, our livers produce a protein called Alpha-1 Antitrypsin, which protects the lungs from damage and helps repair them. With Alpha-1 Antitrypsin Deficiency, your body either isn't producing enough of the protein, the proteins are dysfunctional, or they aren't being transported correctly. In the latter case they get all backed up in the liver, which can cause cirrhosis of the liver (liver damage). There is still a chance that he'll eventually end up needing a liver transplant.

Things like dust, pollution, chemicals, cigarette smoke, any illnesses that affect the lungs like pneumonia and RSV...can damage his lungs very quickly, so we'll need to be very careful about his exposure to them. 50% of Alpha 1's also end up getting emphasema in their 30-40's, and could require a lung transplant.

It is a genetic disorder, so Andre and I both carry an abnormal gene and a normal one, and Gavin got both abnormal ones. So if we decide to have more children, they would each have a 25% chance of getting the disorder, a 50% chance of being a carrier, or a 25% of having both normal genes. It is actually the third leading genetic disorder...Downs Syndrome being #1 and Cystic Fibrosis being #2. A lot of people have never even heard of it and have no idea if they are a carrier for it (like us!). Our whole family will be getting genetic testing done to see which phenotype we are.

There isn't a whole lot they can really *do* for it...he is on a medication that helps his liver, and he will stay on the predigested formula. (so no more pumping! now onto weaning him off *ouch*) But other than that they will just be monitoring his liver enzymes through monthly blood work, and weight checks once a week (for now). At least it doesnt really affect his usual everyday life...he can still be "normal", we just need to be really careful.

We're kind of low-spirited this week because of it...its just scary and unpredictable and hard to not look too far into the future. Its bringing up a lot of new discussions like moving, adoption, etc. But I guess all we can do is be grateful for what we have in front of us right now, and take one day at a time!

We are glad to have an answer though. And we just found out there is going to be an Alpha-1 Education Day here in Mesa (its held in a different nationwide city every year) the first week of March, so that was really lucky...I think it will really help us to meet other parents dealing with this same thing and to see and hear positive stories about it.

Here are some Alpha 1 websites if you are interested in learning more about it:

Alpha1.org
AlphaNet.org
AlphaOne.org

{ read part 8 }

What started it all...{part 6} "Home again, Home again"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

We're home! We finally walked through the door around 5pm yesterday evening (Tuesday). Gavin and I had a nice long, snuggly nap in our own bed this morning and it was SO NICE. :D

The kids were so excited to see Gavin again...all through dinner they kept saying "I'm so happy Gavin is home!" "I'm so happy all of our family is here!" "Mommy, I'm so happy you''re home!"

Joenick had stayed home from school yesterday because he has a fever (wonderful, right?) so he hung out with Uncle Randy (Pa) next door. He told us later that during the day Joenick had been sleeping on the couch, then all of a sudden he was gone. Randy looked everywhere for him and finally walked over to our house and found Joenick sweeping the floor! He asked what he was doing and Joenick said "I'm getting the house ready for my Mommy and Gavin to come home!" He had washed all of Gavin's bottles out, too! I was seriously tearing up...he has such a tender heart, what a sweet little boy I have! :')

I still can't believe that whole ordeal was only one week...we really did go through hell and back (pardon my francais), because my own personal hell (and probably the same for most every mother) is to see my child in pain and not being able to do anything to stop it. Now I have more than just "sympathy" for parents who have children with ongoing illnesses. At this point in my life I can't imagine anything worse. (except maybe RSV...have you HEARD kids with that?! They sound like cats being skinned alive...there were 3 or 4 patients with that on every floor we stayed on ::shudders::)

I told Dre earlier this week that at least now we know we can get through anything together...house repossessed? lost job? locusts? Whatever, at least we're all alive! Nothing like a week in the hospital to remind you about the REAL important things in this life. I still haven't switched back to "normal life" mode...anytime I start worrying about anything "normal" I start feeling guilty, like "how can you worry about whether or not Evienne has a birthday party/if the house is clean/if the bills are paid/etcetcetc...when Gavin is home." I'm almost afraid to start letting those things take over my thoughts again, lest I forget everything I just learned this week.

I NEVER want to forget these feelings. I never want to be so consumed with the "niceties" that I don't leave time for the "necesseties". Because I have to be honest...when all this happened I had NOT been saying my prayers, reading/studying the scriptures, etc regularly.

Dre and I started out our marriage doing those things (when we still had that newlywed ambition)...we'd study the scriptures together for over an hour every single night, take turns praying before we went to bed, go to the Temple every month...and I pretty much thought we were the most awesomest couple out there...and then eventually life crept back in and we only did it when one of had a particularly good lesson in church or started to feel guilty or needed something, or whatever, but it only lasted a few days.

Well, let me tell you, it is pretty much terrifying when all you have left to rely on is your faith and its about as rusty as an old nail. Talk about feeling like a beggar at the door! I NEVER want to feel like that again. NEVER. If I have learned one thing through this, its that nothing is guaranteed in this life except the comfort and love from our Heavenly Father (no matter what happens) but when you're too busy feeling guilty its hard to let yourself be comforted.

Dre and I decided that we are going to go to the Temple together, once a month, if it absolutely kills us...even if its just for 5 inititories...but we must be there! So feel free to ask us how that is going whenever you want! :) (and does anyone want to trade babysitting??)

I'm still worried about Gavin's soon-to-be diagnosis...the preliminary biopsy results are still pointing to alpha 1 antitripsyn deficiency, and the more I read about it, the more worried I get. (I know, I know...back away from the google!)

But at the very least I will make sure I am spiritually ready to handle everything else that may be coming our way.

Oh, I forgot about something else that is guaranteed...help and love from our amazing family and friends!!! I feel so blessed to have so many people who truly care for us. Thank you so much for your service, phone calls, meals, and prayers. I am so thankful for all the relationships I've gained (and the ones I've strengthened) in the last year. I love you all!!!

{ read part 7 }

What started it all...{part 5} "Saturday"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

Gavin is doing well this morning. I stayed with him overnight so Andre could go home and get some sleep. They have him in the PICU (pediatric intensive care unit) but they are moving him back to the children's ward today. The rooms are a lot bigger and are decorated really cute, but the nurses come in way more frequently (like every 30 minutes at least) so it was hard to really sleep at all last night.

Plus, as a mom I guess you *never* really stop worrying, and I kept thinking "what if something happens and all of a sudden all the nurses come rushing in and I'm there all alone freaking out in the corner?!" Thankfully it was an uneventful night.

His nurse was about my age and she had a 4 month old son named Gavin, too. I thought that was kinda neat. We laughed about how "creative" we thought we were being in using the name Gavin, as it is quite apparent to both of us now that this name is going to be really popular!

Gavin is still really sleepy, but when he wakes up he is aware and has even smiled a few times. Mostly he's kinda cranky and keep sucking at his hands because he's hungry. He has to fast now for 2-3 days though! :X They have to wait until his bowels start functioning again b/c they go into shock during surgery and get "lazy". So if they tried feeding him now he would just throw up. As soon as he has a bowel movement they will start him on pedialyte, then move back to formula.

At least this time he can have pain meds though!!! They have him on a couple different pain meds and switch them off & on, but he will still cry out in pain every once in awhile. He was really puffy yesterday from retaining water...but it has gone done some today.

After the surgery the PICU physician was talking to us and said "It is a really, really, really, REALLY good thing that he doesn't have biliary atresia. Like...REALLY good." And later the specialist came in to talk to us and said "It is sooooooooo good that he doesn't have the biliary atresia." Its interesting how honestly they talk about the condition now, since Gavin for *sure* doesn't have it. It kind of made me freaked out inside though b/c he came so close to it, and now its completely obvious that it would have been VERY bad!!!

They are now leaning towards a genetic condition called "Alpha-1 Antitrypsin Deficiency" for his diagnosis, but the liver biopsy results will tell them for sure in a few days. They keep saying it would be a LOT better for him to have this, than the biliary atresia...but after reading up on it, it still seems like a scary thing to have. And a liver transplant is still a risk, although the probability goes down to 20-30% instead of 99% (a VERY good thing!).

I am mostly just concerned about him recovering from the surgery, and we'll deal with the rest when it gets here. We're still not out of the woods yet, but we're praying that his liver is still okay.

I called the kids last night to talk to them about how Gavin was doing, and I told Joenick about the surgery and that Gavin had a scar on his tummy now. Joenick said "Like Harry Potter??? COOL!!!" Hahaha. Good thing Gavin is a boy, and a big ole scar across his tummy will only impress the ladies, right?! :)

{ read part 6 }

What started it all...{part 4} "OUT!!!"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

Gavin is out of surgery and is doing fine.

We just got to go back and see him...he is groggy, but okay. He didn't have the Kasai procedure, meaning he had all his parts and nothing was missing!!! They didnt see any blockages either, but they did say his gallbladder had bile in it, so they got that out. He said his liver didn't look "too bad" (but they have also been telling us that they cant tell by looking...so we'll see).

They did the liver biopsy and we'll results in a few days. I guess we're still back at point 1 trying to figure out what is wrong, but we'll talk to the specialist later and see what he has to say.

Otherwise, I feel like Im about to faint...it took about 2 hours and although i *did not* cry (likje I promised myself I wouldnt) I was pretty close to the dge towards the end there.

Gavin slept really well all through the night...Andre and I left the hospital around 11pm and Andre's mom stayed with him through the night so we could sleep at home, and we came back at 5am this morning. He slept all the way up until the nurse took him back to the OR. We were SO GRATEFUL. It was what I had prayed for, it was such a blessing that he wasn't screaming during our last moments with him. (I think I wouldve cried then).

Anyway, I am typing this from the recovery room on their computer so I better get off...more info to floow. I just cant say thank you enough to everyone for fasting and praying for him.

{ read part 5 }

What started it all...{part 3} "Surgery still on schedule"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

They did the scans, and it still didn't show any bowel movement (indicating a blockage) so they will be doing surgery tomorrow (Friday) at 8am.

They still aren't sure what/where/how it is, and if he had been younger they might've just done a biopsy first and waited for the results. But that would take 3-4 days, and they don't want to waste any time.

We are really apprehensive and scared, but both the surgeon and the specialist talked with us today and reassured us. The surgeon said he has sent home every baby he has operated in the last 30 years, so that was comforting to hear.

Today has been extremely rough. Gavin had to fast this morning for his scan, so he couldnt eat from 7am-10:30am, and then they surgeon came in around noon and said he had to fast the rest of the day and night until the surgery tomorrow. So he has only eaten once today and will be fasting for straight 20 hours. They can't give him anything to get through the night...no medications to help him sleep, not even water. He jsut keeps crying and crying. :(

To make it worse, his IV wrappings came loose this afternoon and we didn't realize it for a good 15 minutes before I saw him bedning his arm and realized why he was crying (we just thought he was hungry). So the tubing came loose and all the saline pooled up under his skin and they had to take it out and redo it. They couldn't get it on his hand, so they had to take it out and try again in his ankle. Poor little guy is having a really rough day. :'( Its breaking my heart. I just don't want him to hurt anymore.

I'm about to leave and go home to sleep for a few hours b/c otherwise I will kill someone here. I feel like I'm going crazy.Hopefully some rest will revive me and tonight they are blessing Gavin...I really need to feel that Spirit right now.

Thank you to everyone who fasted today...and hey, if you are an overachiever, feel free to fast again tomorrow! We will definitely be praying all night and tomorrow morning, too. Thank you, thank you, thank you. We appreciate this so much.

{ read part 4 }

What started it all...{part 2} "Newest Info"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

Ok, yesterday things were still kind of vague for Andre and I, but today the resident pcp, the specialist and the pediatric surgeon have all come to talk with us this morning and explained everything in detail, so now I think we have a pretty good grasp on exactly what everything means.

Gavin's first HIDA scan showed indications of a blockage in his bile ducts, and his enzymes levels are elevated which also points to a blockage somewhere. So that would keep his liver from flushing out bile and such, which in turn damages the liver. Basically it is exactly the same thing alcoholics do to their liver by drinking too much...cirrhosis of the liver.

Without treatment this causes death fairly quickly. In 20-30% of Biliary Atresia cases caught before 12 weeks (ideally at 8 weeks) the liver can heal itself and no transplant would be necessary. However, after 12 weeks the success rate drops to 1%. So we are really really praying specifically that his liver is not damaged too much. We need to be that 1%!!!

The are giving him a medication called phenobarb (sp?) for the next two days which could help an internal blockage go away. So they will redo the HIDA scan on Thursday and if it shows no more blockage, they will only do a liver biopsy to see how much damage has been done to his liver, which is done with a needle under anethesia. But then they still won't know what is causing it...so we'll be more tests then I guess.

If there is still a blockage showing, Gavin will be going under surgery Friday morning at 8am. From there, there are a couple situations. Worst case scenario is Biliary Atresia, which affects about 1 in 50,000 people and usually means there are missing bile ducts & gallbladder. They have seen Gavin's gallbladder in ultrasounds, but it could be that he is just missing the parts of his bile ducts below the gallbladder, which is pretty rare as well.

In either case they will do a Kasai Procedure in which they will attach a part of his small intestine to the liver/available bile ducts, which is a 2-3 hour procedure. 90% of patients who have this Kasai Procedure will still need a liver transplant by age 5.

Best case scenario is that he has all his parts and ducts and that there is just an internal blockage that can be freed up. This would take about 45 minutes. Whatever they end up doing though, they will do a liver biopsy while they have him open, and then we'll go from there whether or not he needs a liver transplant. But for now we're just trying to focus on getting through this weekend.

Today we are just resting...no tests. They have upped his formula to a concentrated version so he can gain as much weight as possible before the surgery. He had a bubble bath this morning, which we both loved. :)

This afternoon he had a bit of a fever, which scared us so much. But it went back down a few hours later, thank goodness. There are a LOT of germs floating around in here...kids with RSV and pneumonia, etc, and the worst part is there is no "contagious" and "non-contagious" section...everyone is in the same space. So we are all more than a little paranoid.

For that reason we are trying to limit our visitors at this point (until after the surgery). We know that everyone wants to help and wish us well, but don't feel bad about not being here in person. We can both check our email and blog, and we both have our cell phones, so that is probably the best way to contact us right now. If you don't have our cell numbers, my Aunt Ann does, so feel free to get that from her. (that should cover pretty much everyone who may need it in our ward or my family).

After the surgery he'll be recouperating here for at least 2 weeks, so we'll be needing LOTS of help then. I think Dre has to go back to work fairly soon, probably next week. So for everyone who has offered to come sit with Gavin so I can go home to sleep/shower/etc, I will probably take you up on it then!Dre and I have been doing okay today...he went home to sleep for a few hours this morning b/c he stayed up with Gavin all last night so I could sleep.

We still have our moments where everything "catches up" to us and it gets scary, but mostly we're just trying to have fun with Gavin. We're trying to remember that this is in the Lord's hands and that whatever happens it is for a reason. (maybe if he had kept the fever it was b/c surgery should be delayed for another couple days, who knows). But its hard when we are basically racing against the clock at this point.

We are so thankful for all the help everyone has given us...I can't stop expressing that. Even the staff has commented that we have so much support. We are very lucky to have all our immediate and extended family, friends, and ward family...here and all throughout the country. And we're really grateful for all the prayers in Gavin's behalf. Thank you all so, so much for everything.

Our family and ward will be doing a ward fast tomorrow (Thursday) so if you can, please join in that. We ask that you please pray that they can find out what the problem is, and that Gavin's liver won't be damaged too much & will be able to heal itself, and that his body and spirit will be resilient, and that the surgeon will have clarity and be able to do the surgery successfully.

I know our ward (and family) have worked miracles before through fasting and prayer, so we have faith that it will happen again for Gavin. We just love him so much, he is such a blessing to our family...he has shown so much strength so far and we know he'll fight and pull through this.

{ read part 3 }

What started it all...{part 1} "Update"

{I copied and pasted these entries from our family blog way back when I originally posted them!}

Gavin had blood work done for his jaundice/weight issues (FINALLY! We had to INSIST!!!) last Friday, then we took him in Monday to have a 2nd opinion appt with a different pediatrician at the same office, and the new doc gave us the results. We werent expecting it at all...he just walked in and said "his results were abnormal, something is wrong with his liver" and from then it was pretty much a whirlwind.

He originally said he was just going to send us to a specialist this week, but about an hour after we got home he called us and said the specialist wanted us to admit Gavin to the hospital b/c of his age, so he would call us as soon as they found him a bed somewhere. A couple hours later he called back and told us they found a bed and to wait for the nurse to us. And by 4:30pm we were sitting in Admitting and getting checked in.

From there his nurse asked if we had been told any details, and we said "no" so she told us the specialist was thinking he has something called BiliaryAtresia which is a congential condition, a blockage in the liver that keeps you from excreting bile and absorbing fat (which may be why he was born so small and has had so much jaundice and trouble gaining weight). It is pretty scary...it was a rough night trying to come to terms with it.

They started doing ultrasounds and scans and bloodwork that night. It was pretty sad. :( Gavin had to fast for them and he was screaming crying for hours. We finally got to sleep around midnight, but we didn't sleep much.

This morning we did some more ultrasounds and x-rays then got to speak with the specialist in person. He said it was still inconclusive whether Gavin for sure has this condition...some things point to 'yes' and some things are inconsistent, such as Gavin has a gallbladder which you usually dont have with Biliary Atresia.

So he ordered more blood tests and urine samples to rule anything else out (genetic disease, thyroid issues, viral infections etc) and Gavin will be put on a medication for the next 48-72 hours that should help them get a clearer scan of a blockage if its there. They also started him on Pregestimil (the already digested formula that will be easier on his liver) and daily vitamin supplements.

So for the next 2 days I think we'll just be hanging out unless the doctor orders more tests or something is found.Once that last scan is done, probably Thursday, we will most likely be doing exploratory surgery and a liver biopsy to see if they would be able to do a procedure to fix the liver or if Gavin would need a liver transplant. He said that will be done before the end of the week, so Friday or Saturday. I'm not sure exactly when/if the next procedure would be done at that point, but I'm guessing fairly soon, as in next week.

This condition is usually caught by 8 weeks of age which has the highest level of success in fixing it. After week 12 the success goes down...and Gavin turned 12 weeks on Sunday. So we are lucky to have caught it at this point.

We are trying to be strong, but this is just so scary and happening so fast. :( It kind of feels like a war zone around here...we are in the Children's Ward and we can hear little kids crying/screaming all night/day. Last night one was calling for her "mommy" :'( And they are doing a lot of construction here right now, so there's just a ton of commotion.

We are doing a lot better today than yesterday though...its pretty amazing how quickly people can adapt to adverse conditions. I guess you just reach a point where there are no more tears to cry and you just have to start living normally again despite what is going on around you. And there is so much to talk about with the doctors and nurses...so its taking everything just to comprehend and retain that information and figure out what we're doing next.

Gavin is doing really well though...he's been smiling and coo-ing at everyone (except when he is getting things poked in him). We brought his bouncy chair and bathtub so hopefully in the morning I can give him a bubble bath (our favorite thing). Mostly we're all just exhausted. We haven't had any problems getting him to sleep today, thats for sure!

Our nurses and doctors here have been really great...very gentle with Gavin and understanding and kind to us, so we're really thankful for that. And my mom and my Aunt Ann have been here with us almost the entire time so far, so we haven't been dealing with it alone.

Thank you so much to everyone who has given us help, well wishes and prayers. We are really really REALLY thankful for our loving family and friends. Please pray and fast for Gavin if you can. I think they will be arranging a ward fast sometime this week, too.

{ read part 2 }

{ Gavin's Story }

Gavin was born into our family in the early morning hours of October 6th, 2007. We were all so excited for him to come...we had planned, prepared, hoped, and dreamed for this sweet little boy! His entrance was perfect...he was perfect! The older kids were so excited to have a little baby brother, and the first morning we brought him home we all snuggled in our bed together. We were so happy, you could’ve made a Hallmark commercial about it. We had no idea then that there was something wrong.

Looking back now, I guess our first sign that something was "off" was his birth weight. He was a mere 5lbs 5oz, born only 10 days early! He was smaller than his older sister who was born 3 weeks early at 6lbs 14oz, and even his older brother who was a preemie born 5 weeks early at 5lbs 14oz! Based on their birth weights and times, I expected Gavin to be around 8lbs. So we were all a bit surprised when he was a teensy little guy, but didn't think much of it at the time...he was just our perfect little baby boy.

He was a bit jaundiced when they did his labs at the hospital, but they sent us home after 2 days and we weren't very concerned about it, since so many babies start out a little jaundiced and it just goes away. At his newborn check-up his pediatrician didn't seem concerned at all and told us not to worry...so we didn't. We were too busy enjoying our new bundle of joy, our excitement and adrenaline were still going full blast, the sleepless nights barely even bothered us!

At Gavin's 1 month check-up he had only gained 1lb. Again, no one was very concerned...he did start out so small after all! He was also still jaundiced...but the pediatrician told us it was just "breastfeeding jaundice" and to supplement a little with formula to “kick start his liver into action”. So we started giving him a bottle here and there, even though I wasn't really excited about it since I was trying to soley breastfeed. Halloween came and went (Gavin was Superman!). Some of our relatives started commenting about Gavin’s size and coloring, which planted little seeds of worry in the back of our minds, but our pediatrician had told us not to worry, so we pushed them away. We didn’t fully understand, we saw Gavin every single day so it was hard to see him objectively…he was just our sweet little man in our eyes.

Life went on as usual, long sleepless nights...changing diapers...laundry, laundry, LAUNDRY! (the adrenaline began to wear off a bit…) But we still loved our little man to bits and pieces! At his 2 month check-up, Gavin had again only gained 1 lb and was still jaundiced, and getting even more yellow than he was before. Our pediatrician just said to “give him more formula and the jaundice will go away.” He also said that it must be my breastmilk that was at fault, and that it was not fatty enough. I started searching the internet for articles on breastfeeding, weight gain, jaundice, etc for hours…I called a lactation consultant, I spoke to a nurse through our insurance medical hotline…but couldn’t find any concrete explanations. A couple weeks later at our family Thanksgiving Dinner our relatives again brought up Gavin’s size and color, more concerned than ever.

We didn’t know what to do…we heard different opinions from every one! We tried all the tricks that people told us…taking herbal supplements and drinking herbal tea 3 times a day to increase breastmilk supply, giving Gavin acidophilus to help him digest his food, nursing on a schedule, nursing on demand, giving him even more formula, putting him in the sun, switching bottles/nipples/formula…but nothing was working.

A few weeks later and it was Christmas. Gavin’s eyes were dark yellow he was so jaundiced and he was so skinny. The comments from our family were relentless. Finally, while we were staying with my husband’s family for the holidays, I broke down and we started giving Gavin only formula in the hopes that it would “get those enzymes moving.” I pumped every 2 hours and stored my breastmilk in the freezer, while my husband helped feed Gavin. We were all exhausted and upset.

The day we got back home, a Friday, we took Gavin in to his doctor to demand that testing be done. His pediatrician noted his slight increase in weight gain, (a 1lb and a half!) and said he was pleased with his progress. Well, we weren’t. We again brought up his small size and his yellow skin...I said, “if for no other reason than to pacify my grandmother, you must do a blood test!” He replied “Ok, but I know his levels won’t be over the normal limit…and besides, if there were problems with his liver, we’d be seeing other things like ___ and ___ and white stools…” and my husband and I just gasped because Gavin HAD had white stools for a few days, but we just chalked it up to switching him to all formula. When we told the doctor this, he casually threw in “oh, well, we’ll go ahead and test his liver levels, too, while we’re at it.”

We walked out of that office in a rage. I swore we’d never go back, and we never did. I immediately scheduled an appointment with another pediatrician in the same practice (that had great reviews from some of my cousins) for the following Monday morning. When Monday rolled around my husband and I went through what we would say to the new doctor (try to be diplomatic, but honest enough to get our point across) but before we could say a word the new doctor walked in and said “Gavin’s test results came back…there is something wrong with his liver.” I remember my stomach just sinking…all this time…all the worry…all the searching...all the tricks…and all he needed was a simple blood test, and his old doctor did nothing about it that entire time.

The new pediatrician sent us home saying he would schedule us an appointment with a specialist within the next couple of days. My husband was so upset…but I reassured him “if it was really that serious, they would have sent us to the hospital.” An hour after we got home, Gavin’s new pediatrician called us back and said he had spoken to the specialist, but he said we needed to go to the hospital as soon as possible. We just looked at each other and started crying. There was no denying it now…there was something terribly wrong and there was nothing to do but pack our bags and go. That’s what started it all.

At first they thought he had Biliary Atresia, where you are born missing parts of your bile duct system. It pronounces itself exactly like Alpha-1 because they both pretty much do the same thing: cause liver disease. Since his first pediatrician caught his symptoms so late, Gavin had to undergo test after test in the hospital for four days, none of which were conclusive, which then led to surgery. Biliary Atresia success rates drop to 1% at 12 weeks...which is exactly how old he was. Usually doctors catch it at 8 weeks, or even earlier. There was no more time to wait for more test results, so they just had to open him up and see what was in there (or not in there!).

During those four long days before surgery, we agonized at the thought that we may lose our baby. Once they got him open, they found he wasn't missing any parts so they did a liver biopsy and closed him up. We felt like we had missed a speeding train! But then we were back at square 1: so what was causing his symptoms?

A few weeks later the biopsy results came back and they told us it was Alpha-1 Antitrypsin Deficiency, a genetic condition that can affect the liver in babies, or the lungs in adults. We had never even heard of it before! Its so strange that you can go your whole life not even knowing about certain conditions, until it SMACKS you in the face because one of your loved ones is diagnosed with it. And then this whole world is opened up to you, and you realize there are hundreds, thousands of people suffering...and nobody evens knows about it. Thats just not right!

We soon learned that our story was not an uncommon one in the world of liver disease...we have talked with many other families whose child was misdiagnosed and symptoms ignored, which led to emergency hospital stays, surgeries, etc. Most doctors just aren't educated on the subject or don't pay attention to the signs!

There are many, many conditions that cause liver disease in children and it is fatal unless its caught soon enough. There are also thousands of these precious little ones waiting for their "gift of life" through an organ transplant. Don't take your organs to heaven...heaven knows we need them here! We hope that Gavin's story will educate others about liver disease, Alpha-1, and organ donation...through adversity we can help save lives!

I have added excerpts from our personal family blog while we were in the hospital with Gavin that first time. You can read them by clicking below:

{ read part 1 }