First Anniversary and Update

Today marks the one year anniversary of Emmery's admittance to OHSU and ultimately her diagnosis of Alagilles. I think back to that day and I am sick with fear. The person I was and the family that we were was about to change into something we could have never imagined. 

I started that day completely unaware of the giant detour God was about to take us on. We literally went from sitting on the couch discussing what we wanted for dinner, to receiving a phone call from our doctor telling us to get to OHSU as fast as we could because our daughter may need surgery. I had taken her in earlier that day because she was still jaundiced. I remember writing down all of the words he was saying on an old magazine on our ottoman. I just kept thinking, "This isn't real, this really isn't happening, this is not for us, this is not ok, these things do  not happen to people like us." I was able to keep my composure on the phone with the doctor but as soon as that phone left my ear I burst into tears. I couldn't speak. I could barely inhale oxygen into my lungs. My husband just stared at me worryingly  "What? What did they say? What!?". I half yelled, half cried it out and ran down the hall in a daze. I stumbled through my room looking for anything to grab to bring with me. I threw a few things in a bag and grabbed some extra clothes for her. Our younger children were confused and asking what was going on. I tried to calm them and make it seem like no big deal. We hugged them and were able to leave them with my mother in law who happened to be visiting. We put Emmery in the car and headed off. I stared out the window, Emmery slept and Erik drove. We didn't hardly speak two words to each other. We knew better than to start googling those words the doctor had said to me on the phone. It would do nothing but give us more fear. And what do you say to each other? This was our worst fear. Both of ours. And we were living it. It was real and we were frightened to silence.

We made it to the hospital and admitted to a room. We had no idea what was going on or what to expect. Oh how I wish I could just go hug us at that moment and say "it's going to be ok.". You should have seen us. Standing there looking blankly at the nurse like, "We don't like you or this place. We don't want to be here." I think she picked up on the fact that we were confused and started giving us information about the hospital and that she was going to get the doctor.

 That first night they started testing her. One of the first things they wanted to do of course was take her blood and try and get an iv in case they needed to do surgery. The phlebotomist guy came in during the middle of the night. He let us know he was there to do the blood draw. My stomach sank, I felt naucsous knowing that it was all about to start. I wanted to just scream at the top of my lungs that they weren't going to touch her. That she was fine. That they had the wrong people. I pleaded with God to make it stop now.

He began to search for veins on her and I just couldn't take it. I ran out the door as fast as I could. Erik was left to deal with it. He eventually stepped out too because there was nothing he could do and it was too tough to watch. He found me at the end of a dark hall crying and pacing. All we could hear was our baby whaling and screaming. We knew what she was screaming for and there was nothing we could do. He gave me a hug and put his hands over my ears so I didn't have to listen to it. Finally they came out to get us. They couldn't get her IV but they were able to get some blood. We spent the next two days doing ultra sounds, echocardiagrams, x rays and more blood tests. 

By the last day, Emmery's GI specialist came in and started to explain what she believed was causing her to still be jaundiced. I still remember her writing it on the white board like it was in slow motion....... ALAGILLES.

To be honest, I was relieved for a moment. See, Alagilles didn't mean anything to me because I didn't know what it meant. I just was releaved that they weren't going to do surgery like we anticipated. After she finished her speech on Alagilles and left the room we were a bit in shock. A genetic disorder? But everything was fine. My pregnancy. My delivery. Everything. We have no Alagilles in our family. This was just too unbelievable. That pretty much describes the next three months following our admittance. We were in denial and disbelief. I believe the feelings are very similar to grief when a loved one passes. It's sort of the grieving process for the loss of the child we thought we had. All I could see when I looked at her was "disorder". We seemed to experience all of those emotions over the coming months, and we are still navigating through. 

As I looked at the calendar today and noticed the year mark, I was reluctant to think about it again. But, I think it is important that I do. It's good to see what we have made it through, what we have accomplished and most importantly what God has done for us. 

He has taken me, that "scared of everything Mom" and slowly led me across the raging waters. I am still at the begninning of all of this, but oh the progress! I have gone from running out the door completely unable to look at a needle, to holding my girl down speaking words of encouragment into her ears while she fights. I am being equipped to be strong for her. I am useless to her if I am weak and afraid. I will continue to learn how to be a place of encouragment to her and will pray that God gives me everything I need to be successful at that. 

So, here is to our first year of an Alagilles diagnosis. We have so much to do ahead. Yes, I am still afraid from time to time. But with this year under my belt I feel a little more confident. And by confident I mean God confident. I have confidence in Him.

Here's to our beautiful and hilarious baby girl.

     Photos by Valerie Hibler Photography





Update on her health:

We took our trip to Dornbecher this month for her GI follow up and to get an update on her labs. 

Emmery weighed in at 16lbs 10oz and 26.5 inches. She actually weighed in the 50th percentile! For height to weight she was in the 5th percentile. Although she's not on the charts for her height, which is to be expected since she will have a short stature. Her GI was pleasantly surprised that her color looks so good. She said that typically Alagille children have a very prominent darkened skin color still at this point. She was even more happy to see that she is growing so well. I am so thankful for this because I feel like this is what I fight for each day. I wake up ready to feed this girl! We also met with the dietician and will be starting Liquigen which is an MCT oil supplement. 

We discussed my biggest concern which is her never ending itch. She is currently on a medication called cholestiramine. It seems to not be as effective for her any longer. The next medication that she would take is called Rifampin. This is actually a heavy duty antibiotic used to treat turberculosis. They happened to discover that this drug gave another side effect and that was itch relief for those with liver conditions. The catch is that sometimes it only works for a short time AND she can't be on it for a long time. It's sort of the trump card for the itch (assuming it even works for her). The risk of starting to soon is that the itch may become even worse when she turns two and then we have played all of our cards so to speak. I decided to wait another week just to see how she does with her itch. I prayed that the Lord would be clear with me if I should start this or not for her.

 I am finding that one the most difficult parts about having a "rare" child is that the parents are left with the ultimate decision making for medical treatment. All the treatment, medications and supplements she takes have been from my nagging/persisting/asking/inquiring. I have to do the research and make the call. And well..WHOA THE PRESSURE. It's hard enough when you are a parent of a "normal" child to make those decisions... Do we play baseball? Do we home school? Does he need a tutor? What is that bump on his leg? For the love, the weight of these decisions could just crush me. Then we throw in something like this that is just so HUGE to decide. This is so tough for me...the most indecisive person ever. 

Well, I felt the Lord made it pretty clear for me. A couple days later she had learned to not only reach up with her hand to her head and ears to rub, but she had learned how to take that cute, tiny little finger and stick it right in her ears. This sounds cute and all but she figured out how to twist that little finger and cut up the inside of her ears, even with her nails trimmed. Her ears are now filled with dried blood patches. Also, the car riding situation has just become awful. She can't stand to be strapped down with that itch in her body. She just cries and cries while ripping at any available skin. This was enough for me to feel like it was worth starting this new medication. (Because if you have never had the pleasure of riding in a car with a screaming baby, you will have to trust me when I say it's like the worst thing on the planet and can turn any calm good driver into a maniac with road rage.) Lastly, when she has her diaper changed she turns into a ravenous itcher. As soon as that diaper leaves her bottom, it's a fire storm so to speak. She starts wailing and grabbing at her private areas to scratch and get relief. You can imagine that changing a completely poopy diaper with this kind of response is less than ideal. Her hands go straight for the poop. It's really lovely. 

Needless to say we decided we will be starting it and hoping to see some results. I just picked it up last night thanks to some friends who made it possible. One is a pharmacist in a nearby city and the other picked it up for me. This med is meant for adults so we had to make it into a suspension.. which most pharmacies are unable to do. We started it last night but it can take around two weeks before we may see the results. 

After her appointment that day, the poor girl had to get a blood draw to update her labs. 

They like to check her vitamin levels; A, D E and K, as well as her iron levels. They also check her direct biliribin, ALT, ALP and ALP. The Alkaline Phosphatase levels indicate damaged liver cells. The middle column shows what her levels should be at. The far right column shows her currently. They are pretty elevated. I believe this is why she is itching. All her other vitamin levels actually looked good so we are thankful for that.

ALK PHOS	85-270 U/L	764
AST(SGOT)	24-47 U/L	206
ALT (SGPT)	12-60 U/L	209

If you're the praying kind:

1. We are praying that this medicine works and keeps her itch at bay for a decent amount of time.

2. We are praying that she continues to grow well as she transitions to more table food. 

3. That we are prepared for our upcoming trip to Washington DC for the Alagille Symposium.

Thanks for your prayers,
Emmerys Mom

One

She is ONE

She crawls around the house like a mad women and now walking with a walker!
She says "Mama, Dada, Bubba, Uh-oh, Peek a Boo and lalalala"... and blows kisses!
She loves LOVES her big brothers.
She squeals with excitement over any animal.
She loves splashing and playing in the water.
She is a dancer.. and can hear music from all the way across the house.
Her favorite song is "Happy".
She is drinking from a cup and eating lots of different foods.
She has slept through 1 out of 365 nights.
She is a Mama's girl but is slowly becoming a Daddy's girl.
She has everyone wrapped around her little finger, and she knows it.

Proud isn't even a big enough word to describe how I feel about our Emmery. She is our little fighter. She is stronger and more capable then we ever thought she would be at this point. Her home nurse describes her as tenacious and I love it because it true. We are thankful for these blessings that God has granted her with.

I woke up the morning of Emmery's birthday with a bit of fear and anxiety. I wasn't sure why, but I just felt afraid. I started thinking of what could be making me anxious on such a special day. As I thought about it, I realized I am fearing the future. "We've made it this far... but what's next?", I thought. Its sort of feeling like we just ran a mile... but we have a 100 mile race to run. That first mile was the hardest thing we have ever had to do. What will mile two look like?

As Em was still sleeping near me I decided to get up and read my daily devotional (from Jesus Calling) to calm me down a bit. I turned to April 15th and it read:
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Trust Me, and don't be afraid. Many things feel out of control. Your routines are not running smoothly. You tend to feel more secure when your life is predictable. Let Me lead you to the rock that is higher than you and your circumstances. Take refuge in the shelter of My wings, where you are absolutely secure.

When you are shaken out of your comfortable routines, grip My hand tightly and look for growth opportunities. Instead of bemoaning the loss of your comfort, accept the challenge of something new. I lead you on from glory to glory, making you fit for My kingdom. Say yes to the ways I work in your life. Trust Me, and don't be afraid.

Surely God is my salvation; I will trust and not be afraid. The Lord, the Lord, is my strength and my song; he has become my salvation.-Isaiah 12:2

From the ends of the earth I call to you, I call as my heart grows faint; lead me to the rock that is higher than I. For you have been my refuge, a strong tower against the foe. I long to dwell in your tent forever and take refuge in the shelter of your wings. -Psalm 61 2-4

But we all, with unveiled face, beholding as in a mirror the glory of the Lord, are being transformed into the same image from glory to glory, just as by the Sprit of the Lord. - 2Corinthians 3:18
**************************

BOOM. God spoke and I listened. I am not going to fear year two. I will say YES to the ways He will work in her life.

We celebrated Emmery's birthday with friends and family at a local restaurant. She was spoiled and loved on and we are so thankful for everyone who loves our girl. She was our little Strawberry Shortcake.

 

Happy Birthday baby girl.. we love you!

 

Love, Your Mom

 

 

 

 

 

Victory & Defeat

I've said before that we don't try and think too far ahead when it comes to Emmery. I set goals instead. Since our last post my goal was to get Emmery gaining weight, drinking from something other than me, and becoming more mobile (crawling, stand ect). The last couple months I made those goals my priority. We have seen some amazing victories in the last few months.

Victories
Physically-
Her physical therapist felt she was slightly behind but had confidence she would start crawling any day. Well he was right.. she crawled three days later and has stopped moving since. She is even getting good at walking around the table while holding on to something. This is HUGE!! I have read and found that many children with Alagille's can be VERY underdeveloped due to their tiny bodies and lack of vitamins and strength.

Physical Therapy


Feeding-
The Occupational therapist gave me some great practice tips to help teach Emmery how to drink from a cup or sippy cup. Emmery has never been able to take a bottle or binky. I have been practicing with her every day and she is getting it down. She can drink from a sippy cup! BUT now the challenge is getting her to prefer that over breast feeding. I am currently still breast feeding her frequently and at night. She has also been doing better with eating real food without gagging and throwing it up.
 

Weight-
At her last GI appointment, her doctor was happy with her weight. She was 14lb 14.5oz and 25 inches long. She was at the 3 percentile mark. She would like her to be up a little more, but she said that was pretty good.

Appointments-
We met with her cardiologists as well and they said that the slight ballooning they did in her artery seemed to do a little bit to help. They are ok with waiting another six months before doing another echocardiogram.

In addition to meeting these goals, Emmery's personality has really started to blossom. She loves dancing, singing, waving and saying "uh oh!" She tries to keep up with her big brothers, which I think is the best therapy of all!


My next goal is trying to get her itch under control, get her sleeping and eating more solid foods. These have been our biggest struggles and defeats with her condition.

Defeats

Her itch-
Her itch seems to always be there, but some days are so bad that.. OH MY HEAVENS.. I want to scream to Jesus that we just want to give up already! Ok maybe, I do, for real, scream that sometimes...  People, this is so hard to even articulate so you are able to fully wrap your mind around what this is like in our world. Some days there is no end. There is no nap, there is no rest, there is no bedtime or break time, there is no night time. There is no shower or conversations or catching up.
It is just one giant day of her crying and fidgeting. Our family has learned to just try and power through it. We can't stop life. Our older boys make this happen because they need us too. There's school and meals and playing and laundry and sports and attention that all need to be taken care of... we can't stop. But sometimes the never ending itch takes over our day and unfortunately everything gets put on the back burner. The boys have done so well considering the drastic change there life has experienced over the last year.
Can I just take a second too to say that siblings of special/high needs children deserve a giant parade! They are just as effected by these needs as the actual child that has them. They take the back seat at times so that she can be cared for. All eyes and attention is on her a lot of the time and they just keep loving her more and more despite what it takes from them.
Back to the itch...
She is always pulling at her legs and belly and sometimes her face. If any skin is exposed she manages to scratch it and cause it to bleed.
We will think we have it figured out with her medication, but then it will turn on a dime and her itch will be out of control again. It's so hard to understand what factors make it worse and what make it better. It's exhausting to try and figure out.
Right now she takes Hydroxizine, Cholestestiramine, & Ursodiol. She also takes a multi vitamin, Vitamin D, and an Iron supplement.
My goal is to figure out the right combination of meds ect. that will help her control her itch better.

Sleep-
Sleep, at night, has actually been a bit of a victory as well but 80% of the time it defeats us. We usually don't have a bedtime. What does that mean? Usually my husband or I will have her in our arms or trying to keep her happy while the other gets the boys to bed and settled. We usually then take turns with her until he falls asleep. There isn't the "OH THANK GOODNESS, ALL OF THE KIDS ARE IN BED WE CAN RELAX NOW!" I  take on the majority of the night unless I feel like I'm going to loose my crap and I need a hand. My poor husband usually picks up this cue when he finds me crying in the fetal position in my rocking chair while Emmery is screaming her guts out. It's not a pretty moment, but it's the ugly truth.

Her scratches on her leg

So there you have it. She is drinking and crawling but itching and not sleeping. Pretty much sums it up... God has been with us every step of the way. Sometimes it's hard to understand or trust that this is what we have been dealt, but we hold strong to our faith. He will make something beautiful out of this mess.

Lastly, we have recently booked a trip to Washington DC  in June to attend the Alagille Symposium. This is a three day weekend of classes and conferences with Alagille specialists. We will be able to learn about all the different aspects of Alagilles. We will also be able to meet other Alagille families. We are so thankful that this is available to us since it is only held every three years. We are a little anxious for the trip and all that it entails to plan and prepare but we know it will be so beneficial to us.

If you're the praying kind:
Please pray:
- That we can get a handle on her itch.
- That she can keep getting better at sleeping
- That we can keep her weight on during the transition to more solid foods
 
 

-Emmery's Mom

December blessings and Heart Catheterization Recap

Blessings:
The last month has been filled with so many blessings, I just had to take note of them. I was trying not to be anxious during December in anticipation for Emmerys heart catheterization last week. I was surprised with myself that I didn't COMPLETELY freak out. Christmas was a really great distraction.

We were blessed this year with multiple anonymous gifts. I am struggling with accepting them without a face to say thank you to. So, if you were one of the very generous people that gifted our family this year I just want to give a BIG thank you. I was telling a friend of mine that these gifts were amazing to receive not because of the amount or what they are, but just for the fact that someone actually took the time to think of our family. It is just so overwhelming to think that someone we may not even know cares about us that much.

One of the gifts was quite exciting for the kids. We came home from a couple of nights at my Dad's house for Christmas to find a couple of Santa bags on our front porch. Inside were gifts for all of us! The kids were just ecstatic. Included was a beautiful letter telling us that they heard of our family and have been praying for us! The letter was the best gift. I have it posted in my kitchen to always remind me that we are not alone and that God provides.
The letter read:
"Your family and sweet Emmery Rae have touched our hearts. You don't know us, but we share an incredible bond as brothers and sisters in Christ.. and we just wanted to spread a little extra Christmas cheer your way!
We want you to know that we are praying daily for God's perfect peace to transcend on your entire family, for answers where they are needed, and for relief for sweet Emmery. A parents heart is truly a mirror into the heart of the Father and I know as a mama how it must break to see your precious one in pain. I find comfort in knowing that God feels that too. His arms are open and ready to envelop you holding you and comforting you as only a Father can do.
Know that on the days when you feel so weary you can't even form the words to pray, we are standing in the gap. That you are being lifted up, surrounded in love and heavens gates are being flooded with prayer of intercession on your behalf. For sweet Emmery. For your boys. And for the two of you.
Merry, Merry Christmas"
"The righteous are like a tree planted by streams of water, bearing fruit in all seasons"Psalms1:3

 

 

Needless to say, we were completely BLESSED this Christmas season. We received so much love and support from family, friends and anonymous people in our church family.
THANK YOU to all of you have sent well wishes, prayers and gifts to us. We are so overwhelmed there just aren't words to articulate just how much you have touched our family in a positive way. It gives us hope and encouragement and really does change our attitude. Your love for our family gives more than you would even know. It gives HOPE.

I have also been in touch with another mother of a child with Alagilles. I met her through facebook (ps thank goodness for facebook and what in the world did mothers with special needs children do before fb and google?)
She has helped me so much by giving me some tips and ideas to help Emmery. She gave me some direction that has really helped me. What's difficult about rare genetic disorders is that they are RARE so I don't have anybody to help navigate this with me. I get really overwhelmed with just how much I need to do just to keep this kid growing and healthy. I get "stuck" sometimes and just don't know which way to go. This fellow Alagilles mother has been so gracious to write me and even let me call her and drill her with questions. I am so thankful that she took the time to talk to me and share her daughters story.


Emmery's catheterization:
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Emmery's heart cath went way better than I could have ever expected. I thought I was going to be sick with anxiety the day prior and the day of, but surprisingly I was peaceful and calm.
Everything went well, her IV went in quick without much of a fuss, she did well on the longer car rides up and back, she handled not being able to be fed before anesthesia well and was even smiling at all the nurses.
She went into the cath lab around 1pm and we received updates every hour. The catheterization basically was going to give the cardiologists a map of her arteries around her heart. They knew her heart is working harder than it should but they weren't sure exactly why. It showed that all of her arteries are just generally underdeveloped or small which causes the heart to pump harder. There were also a narrowed spot that they were able to balloon and stretch a little. They didn't want to balloon too much due to how small she is. The catheterization and ballooning took four hours and then we were able to go back and see her. She woke up really well and was even able to breast feed within 30 minutes after waking. The only hard part was her itching was bothering her which was hard to comfort. If she wouldn't have had an itch it would have been much easier. Her throat was also rough and voice was scratchy due to the breathing tube she had while under anesthesia. We waited in recovery for six hours and then were admitted for the night over at Dornbecher's Childrens hospital. She recovered beautifully and we were able to leave the next day after a chest x ray. We now will continue to follow up monthly with a echo cardiogram and review by her cardiologist. They will be watching her heart to make sure it's not working too hard and causing thickening to her heart wall. They hope that she grows that her arteries will grow as well.

We are so very thankful that the procedure went well and we have an idea of what we are working with. Her heart will be something will forever be watching. Next month we follow up with her echo and we will also see her GI to check her growth and talk possible medication changes to help with her constant itch.

Thanks again to all of our family, friends and those we haven't even met...


Emmery's Mom