8 months- Heart Procedure Update

It has been difficult to try and update Miss Em's blog. Ever since she has begun itching our lives have been turned a little upside down.

Emmery is 8 months!! Here are the updates:

Her Heart:
Last month we learned that her pulmonary stenosis has progressed. Basically her arteries leaving her heart that pump blood to the lungs are narrowed. So this causes her heart to work extra hard to get the blood out. Over time this can cause her heart to get hard. It's not an immediate concern but they would like to take care of it now because they said they tend to do better if it is taken care of earlier than later. They will be doing a catheterization of these arteries. Basically they go up through a leg artery straight to her heart. They use a balloon or stint to open these up. We are scheduled to have this procedure done the first week of January. We will be up at Dornbechers for three days. I'm am trying not to be anxious about this and Christmas is a good distraction.

Emmery sedated and getting her Echo

Her Liver:
Last week we met with her GI to talk about her liver and get some labs done.
Her weight gain has slowed a bit. She is now at 13.3 lbs at almost 8 months so if she doesn't start gaining a little quicker then they may want to start a NG feeding tube. This goes up her nose down to her stomach to supplement her with more calories. We will know in February if this needs to be done. She has also become very very deficient in Vitamin D. We are starting an additional vitamin supplement to help with this.

Last week we also had a home nurse come to check Emmerys vitals, weight and watch her developmental milestones. She is provided through the county and helps connect us with all the resources available that we may need to care for her. It was so great to have someone here at the house to talk with us. She has over thirty years experience and has never seen an Alagille patient. She didn't know what it was and had to do her research, but she still was a great help.

How is Emmery doing?
Overall, Emmery seems to be doing ok considering what is going on inside her liver and heart.

The good things:

• She is rolling over and playing with her toys.
• She can sit up pretty well on her own which means being able to take a bath in the big kid bath!
• Her color seems to be getting better and I don't get as many "Um your baby is really jaundiced" comments.
• She smiles even when she is itching.
• She laughs and loves to play with her brothers.
• She says Mama!
• She has two teeth

The struggles:

• She still isery small for her age. She looks like she is filling out but she is very short.
• She doesn't stop moving. (I think this has to do with the fact that she is just always uncomfortable from this itch)
• She doesn't sleep for more than 30 minutes during the day without being held or bounced (Lot's of babies have a hard time napping so she could just be a more difficult sleeper on top of her other health issues.)
• Her vitamin D levels are extremely low that can cause other side effects.
• The itch. The itch. The stinkin itch. When we change her clothes she just lays there and rubs her little hand up and down her belly, grabbing, scratching and wiggling. She fusses and cries. It never stops. She is on a medication, Hydroxizine that is supposed to help relieve the itch and make her sleepy, but it only seems to take the edge off a little.

Video of the itch:

 

How are we doing?

We live day to day. I'm learning that we can't look too far ahead, but that is the most difficult part about this syndrome. Due to the fact that Alagille's seems to effect every person so differently, there is no way to know her future. This leads to a lot of wondering, thinking, worrying.... You get my drift. I try my best to research, learn and connect with others who know more about this. Sometimes it's just too much to try and understand, especially when it applies to your child. I have found that it is not good for me to do any research in the evening. This usually sends me into some sort of anxiety panic attack that my husband or a sweet friend has to talk me out of. It's the most conflicting feeling. I have a natural planner/controller gene in me that makes me try hard to understand as much as I can for her sake. But, this isn't some random patient. This is my one and only daughter. I read about horrible, horrible effects and outcomes of this syndrome and I am overcome with fear thinking about her having to endure this. Someone told me that I am a doctor for one... I'm trying to become an expert in her. It's too much for a mother to bear sometimes. How can you watch your child suffer and struggle their whole life? I have to work hard and pray hard to not let my mind go there.

 I tried to explain to a friend what it is like right now for our family...You know when one of your kids or yourself gets the flu and it kind of throws everything off in the family. It makes things tough and stressful and you just can't wait until they are well so you can get back to normal life?  You know that flu will eventually go away and that eventually they will stop puking and sleep but it just is crazy and stressful. It's just high anxiety type of situation where you are just looking for some kind of relief and normal. Well that's where we are at but the reality is that there is no end. This is our new normal. It's not just the itching but the preparing and understanding for what is to come down the road. This itch is just the beginning to the list of other things that can effect her little life. It takes a toll on the family.

But, there is HOPE.

The Lord is with us. He has been comforting and reminding us of our purpose in Him.
Our church just began a series called "Triumph in Trials". It has been a study that is speaking directly to our hearts. It's easy to get caught in the "Why do bad things happen to us?" attitude. We are being reminded trials are apart of our life. One big reason is to remember that this earth is not our final home. A funny thing happens when everything is out of your control and you have nothing left... All of a sudden God becomes real and alive in  your life.
Everything in our life has changed; our health, our finances, our relationships... We have to completely rely on God.

We have been overwhelmed and humbled by friends and family who are supporting us.
We have been supported in all different ways..We've received meals, clothes for Emmery, financial support, and encouraging words, cards and messages. We have friends and family who help with the boys during doctors appointments, which is a huge help! I have a dear friend who has a child that needs lots of  medical attention too that has lead me and encouraged me to be strong. I have THE best friends in the world that bring me starbucks or just listen to me blubber on about how hard this is. They pray for us and give us strength.

If you're the praying kind:
We are praying :
-She gains more weight so she doesn't need a feeding tube.
-Her Vitamin D levels increase.
- She has relief from her itch.
- Her heart procedure goes smooth and she recovers well.
- That we may have experience a peace during her appointments and surgery.
-That our family will stay united and that we will grow closer.
-That our boys won't be negatively effected and not worry.

Thanks everyone for your support and prayers,
Emmerys Mom

The Itch

This will be quick... The itch is here.

She is very uncomfortable these days. She is up every hour at night rubbing her feet together, rubbing her face frantically back and forth, and squirming her body. She is on an antihistamine Hydroxyzine that was supposed to make her sleepy but it doesn't. The worst is in the evening and at night. Her little legs have scratches on the bottom from her toe nails. 

I am tired. She is tired. 


I just feel so bad for her... There just isn't enough rocking or bouncing to help. I just use my nails to scratch/tickle her little back and body throughout the night. 


If you are the praying kind: 
If you could just take a moment to pray over her body. Pray we get the right medicine to help her. Pray for rest. 

A great mentor through our Women's ministry gave me great advice that when you are so tired and you don't know what to pray and you can't even open your bible, you just say :

"Jesus I believe in you and I trust you. Amen" 

Love,
Emmery's Mom

Genetic Test Results

Our GI specialist called us yesterday. We've been waiting for this phone call since we left the hospital at the end of May. We have been fairly certain that Emmery has Alagille Syndrome, but without the official results we weren't for sure. Well, we don't have to wonder any longer because the results do show that she has a mutation on her JAG1 gene and therefore has been diagnosed with Alagille's Syndrome.

What now?
Nothing much changes except we finally have a name for what is going on with her. We will also be referred to a genetic specialist. I have yet to find out what they will actually do for us, but it will be another specialist we will see.

The good news:
With this diagnosis is that we can rule out biliary atresia so she can avoid surgery for now. They also believe that the mutation that her lab results show are very unique and most likely was not inherited, but a new mutation. This means we may not have to worry if our boys carry this gene.  

This week I received a gift from my aunt for Emmery. She hand stitched and framed
 Psalm 139:13-14.

"You created my inmost being, you knit me together in my mothers womb.

 I praise you because I am fearfully and wonderfully made."

Thank you Aunt Lori for this beautiful gift.

 

I know this wasn't a coincidence. This is God working and reminding me that he has made her... and has made her wonderfully. The world may see her as having a disorder or mutation but He sees her as perfectly made.

If you are the praying kind:
-We are praying for her liver to continue to remove the bile.
-We are praying her heart murmur goes away.
-We are praying for continued peace over her diagnosis



Love,
Emmery's Mom

Her Heart & This Darn Reflux

Emmery is trucking along and is 4 months old! It's been a rough month with lots of sleep deprivation and a fussy baby. But first, a praise report:

-She is growing well and getting bigger!
-Her color has really improved!
-She is alert and active and is sitting her head up while on her belly!
-She is grabbing at things and pulls them to her mouth!

Her Heart:
Back when we first learned about this syndrome effecting her liver, we also learned that those with Alagille's syndrome can have issues with their heart as well. While in the hospital they did an Echo and said she did have a slight murmur but it could go away on it's own. They had us schedule a follow up appointment. We went to this appointment on Wednesday and had her complete another Echo and meet with the cardiologist. Due to the fact that this girl does not hold still they were unable to see really clearly, but they believe that her pulmonary stenosis is progressing. Meaning that the pulmonary artery may be bent or narrowed and need angioplasty.

Getting her Echo

Honestly, I thought we were in the clear with her heart so it came as quite a unpleasant surprise to learn this. I still haven't taken the time to learn more about what is possibly going on in her heart. I frankly am exhausted of reading medical terminology. Actually I sort of just blanked out once the doctors said "progressed". After that all I heard was "wah wah blah blah ... surgery.. wah wah blah"
They want to wait two more months and do another Echo to make sure it really is progressing. This time they want to sedate her so she holds still She has been pegged as a "difficult patient" since she likes to fuss and wiggle. So we will wait until October to find out if her heart really needs some help or not.

Little lady acting like a wild woman while getting her vitals.

 

Last fall at our church women's retreat I was provided a verse that I was to reflect on. At the time I was pregnant with Emmery and overwhelmed at the thought of just having three kids. I felt that maybe it was applying to my anxiety of another C-section or baby. I think it is clear that He was not preparing me for the birth but her life. Here was my verse:

My flesh and my heart may fail, but God is the strength of my heart and my portion forever

.-Psalm 73:26

For now, I will rest in this. He is the strength of her heart and there is nothing more I can do.


This Darn Reflux:
The last month has been rough due to Emmery's acid reflux or GERD. For some reason this issue is so frustrating because unless it effects her weight and growth, the doctors don't seem to be too concerned.  She has silent reflux so she isn't spitting up a lot but is VERY uncomfortable.
Her symptoms are choking while feeding, fussing and wiggling after feeding, wet burps, quick stop breathing episodes, congestion,  coughing, sneezing, overall fussiness, constant rubbing of her nose and waking often at night and at naps. This girl doesn't go more than two hours at night and sometimes nothing can calm her. She was put on Zantac back in May and it never seemed to help. Recently her reflux has got worse. One night last week, I believe I slept for about one hour.. the rest was spent feeding her or trying to get her comfortable.

I have been on a crazy research rampage looking for answers. So far I..

-Keep her upright after feedings
-Feed her frequently and smaller amounts
-Feed her sitting up
-Cut Dairy out of my diet-And more recently trying no Wheat, Dairy, Soy, Chocolate or Caffiene. (I was ok with all of this but the chocolate.. I'm dyin over here) PS The peanut buster parfait I had last weekend didn't count because well I was desperate for some dairy and chocolate.
-Give her and I probiotics
-Tried to thicken her feedings but she has since decided not to take a bottle any longer.

After all this.. still not much of a change. I ended up in tears at the doctors asking for anything else they can give her to help. They have now prescribed Prilosec to help with her reflux and heart burn. She has been on this for a few days and they said it may take a week to see the effects. In the meantime, I keep her happy walking, holding ect. I'm hoping she outgrows this around 6 months. I just feel so bad for her and want her comfortable.

If you're the praying kind:
-We are praying her murmur goes away!
-We are praying that she continues to grow and her jaundice keeps improving
-We are praying that she begins to take the bottle again so she can take her supplement formula
-We are praying she gets relief from this awful reflux
-We are praying for one good nights sleep :)

Love,
Emmery's Mom

Deficienct & People like us

We are still awaiting the genetic test to confirm her Alagille syndrome, but we are hoping to hear something by next week. All this will do is give us a definite diagnosis and completely rule out any other possibility, like a block.

Emmery seems to be doing well, but she is becoming vitamin deficient. With her condition it is difficult for her to absorb fat soluble vitamins A, D, E and K. She is now being prescribed Aquadek's which is a vitamin supplement specifically for those who have a hard time absorbing these. Hopefully that will help keep her vitamin levels up. If she becomes deficient in these vitamins it can effect her vision, her bone density, her growth, her reflexes, ect.  Our next appointment will be in September, so we will be able to see if this supplement is working for her. This is the main reason that she is smaller than the average 3 month old.

You don't really notice a difference in her until you put her next to a baby around her age. A friend of mine has a baby girl born 4 weeks after Emmery and she is bigger than our little babe. You can also notice her yellowish skin tone a lot more. Her strength is not the same and she just seems much younger than other babies her age.

Here is her and her buddy Emersyn. Emmery is 4 weeks older than her.

This picture gives you an idea of how much smaller she seems, unable to hold her head well.

 

Sometimes it's tough to take knowing she has such a rare disease when you can see how she could be if her liver ducts were functioning normally. It's still surreal sometimes. I mean, things like this don't happen to people like us. Or so we thought. I think we all think like that when something major, devastating, life changing, or damaging happens. How did this happen? And when you hear about it happening to someone else it's just hard to relate. You secretly are scared to know about it because well, you frankly don't want it to happen to you or your child and all it does is reminds you that things can go wrong. I think that is why it is so difficult for people to support those of us who have children that have special needs. It's difficult to relate to. I know I was like this. If I heard of a friend or a friend of a friends child in the hospital with some rare disease or cancer it reminded me that this could happen to my child. It scared me and I didn't want to try and get too close to knowing about it because it was just too awful to imagine. And here I am right in the thick of it, living it. It's a very lonely place sometimes because you know that others have a very difficult time understanding how this is effecting you. One aspect I wasn't prepared for is strangers. We are just learning how to deal with strangers and their reactions to her.
This is a typical conversation:
 "Aw how old is she?"
"About 3 months"
"Oh wow she's tiny? Was she early?"
"No she just has a little health issue going on."
"Oh well will she grow out of it?"
"Um we're not sure."

Or the best is:
"Oh did you know your baby is really jaundiced?"

It has really made me aware of how I talk to others who have major health issues or were born with special needs. I would rather someone ask me what her name is or comment on her adorable smile. I know they have good intentions and they have no idea how it effects me.
A great friend of mine that recently adopted a child internationally did an amazing job sharing with her friends and family about adoption etiquette. I was so thankful that she was so courageous and took the time to share with us what to say and not to say to adoptive parents and children. I felt like I could understand their position and little better. So this is my attempt at sharing with all of you. I am no expert and we are just at the start of all of this but if you know of or meet someone who is or has a medical issue or condition, be interested in them and not their condition. Ask them their name, what they like to do, how old they are. Comment on how cute they look, or what great shoes they have on. Really anything that you would say to someone that was what you would consider "normal".  Acting afraid of them or commenting how sad it is doesn't help. And if they would like to share with you what it is that you would consider "wrong with them", just sit and listen. Too many questions is sometimes overwhelming and sometimes there are no answers. An amazing friend of mine that has a son going through his own medical issues has been such a great support for me. She had a great idea to have them where stickers that say "Don't ask, Just Pray."

It's not that bad, others have it way worse than us. I am ok with how little she is and how yellow she is, but all it does is remind me that there is something wrong. Something looming down the road. I have to keep reminding myself not to think too far ahead because it could drive me crazy. How will other kids treat her? What if her liver doesn't do well and she needs a transplant? How will I handle her having surgery? It goes on and on.

But we are thankful for our baby girl. She is a cutie that loves smiling at her brothers. She loves to cuddle with Mommy and is learning to sleep in her bed! She focuses in on your face really well and loves to watch people.

I work hard at seeking peace over this. God can give me peace even when everything around me is full of chaos.
John 16:33 I have said these things to you, that in me you may have peace. In the world you will have tribulation. But take heart; I have overcome the world.”

Thank you to all who are thinking and praying for our Emmery. We are doing as well as possible. It has effected so much of our life and we are learning how to handle all of it. One day at a time.

Currently we are making big decisions for me to continue to stay home with her so she can keep eating well and growing. Little miss isn't too fond of the bottle these days so we can't take any chances on her not eating. This means a big financial change for our family, since I was planning on returning to work next month.
If you're the praying kind:
1. We are praying that these vitamins work and she will no longer be deficient.
2. We are praying that her bilirubin continues to leave her liver and she doesn't get that itch.
3. We are praying that we begin to have peace over this life that she will live.
4. We are praying that we will be able to financially make it through this year while she needs me the most.


Love,
Emmery's Mom

Lab results and appointment review

On Thursday Emmery had her 1 month follow up appointment after beginning her medicine Ursodiol. Her GI specialist is up at Dornbecher's in Portland, so I was thankful that a great friend of mine was able to watch the boys while I met Erik up there.

I had been so prepared the day before with my pink folder and all the medical information that I had studied over that last month. (P.S. researching the Internet about a rare disease that your daughter has is emotionally exhausting). Of course I left this lovely folder in my car with all of my questions, so I had to go from memory. But we basically wanted to know if any other treatments would be helpful for her and what her future may hold. As I mentioned before, it's not that simple. We will be just going month by month here. Maybe even week by week.

First she assured us that the Alagille patients that she has had, have done really well. They weighed her and measured her and were very pleasantly surprised that she is growing well.  (Yay! All those sleepless nights of feedings are worth it!) She is only in the 5th percentile on the "normal" scale but as long as she is growing, that is good.

She is now 9 lbs 7oz. and 21.3 inches.

We also asked her about worst case scenario... transplant. She reassured us that if she did have to go down that road that they have an excellent success rate with their liver transplant patients. They work with Stanford to complete their transplants. The only reason we would need to go there is if her quality of life began to be affected by either the sever itch (pruritus), if she stops growing, or if her liver starts shutting down causing other major side effects to her other organs.

She was confident that if she could make it to the age of 3 with out having to do any major procedure to her then she is more likely to live longer with her own liver.

Lastly, she had her blood taken and this by far is the worst part. Her poor little veins are so small and little missy is a fighter. Thankfully Daddy has the stomach to watch this while I hid around the corner, rocking myself and humming with my ears plugged. Here is a picture of her poor little bruise. You can also see they yellow in her skin.

 

Quick little medical lesson:
Your bilirubin count is a combined total of your direct bilirubin and your indirect bilirubin. This total is what they usually measure at the hospital when baby is born. So her levels were a little elevated when she was born, but unless they broke them down then they would assume that it is her indirect bilirubin that is high, which is the kind that can be cured with lights or sunshine. But direct bilirubin cannot be cured with lights, it is in the liver and indicates that there is a block, missing duct or malformed duct.

So her direct bilirubin count is 9.7. A "normal" count is 0.3. But the good news is that her previous reading a month ago was 9.2 so it has only moved up a little. Considering prior to that, her bilirubin level went from 7 to 9.7 in only two weeks. That means the medication may be working to slow down the build up. Prayer answered.

Her liver enzyme levels have gone up though. This measurement basically tells us have irritated the liver is getting with all the bilirubin in it. Her AST-Aspartate transaminase  is 428 and ALT-Alanine transaminase is 325. A normal ALT 12-60.
What this means:
"Elevated liver enzymes may indicate inflammation or damage to cells in the liver. Inflamed or injured liver cells leak higher than normal amounts of certain chemicals, including liver enzymes, into the bloodstream, which can result in elevated liver enzymes on blood tests."


Her doctor doesn't seemed too concerned that these have gone up. It's expected. As long as Emmery is doing well, eating and happy then that is all that matters.

We will continue to pray:
1. That she keeps growing.
2. That she DOESN'T get that horrible itch.
3. That the medication keeps her direct bilirubin level the same or lower.
4. That her liver doesn't get mad at her. :)
5. That her Mom chills out and stops stressing.... oh and maybe gets a nap.

Emmery thanks you for all of your thoughts and prayers.. I think that is what she is trying to say in this video.
 

Love, Emmerys' Mom

The news

We have recently discovered that our new baby girl Emmery is having some liver function problems.This is the reason we are beginning this blog. This will be an outlet for sharing information to family and friends who are praying and also a way to connect with others whose children may have some of the similar health problems.

The history:

Emmery was born on April 15th, 6lbs 6oz and 19 inches long, happy and healthy. Upon leaving the hospital they did notice that she was slightly jaundiced. They said she should be fine as long as she keeps eating well. Our pediatrician agreed at her first newborn appointment.

Fast forward 6 weeks. . .

Emmery was still slightly yellow and we became concerned. I took her to her doctor to check her bilirubin levels. By the time I arrived home from her appointment the doctor called and informed us that Emmery's labs indicated that her direct bilirubin level was sky high and we needed to head to OHSU to be admitted. They believed that she may have biliary atresia, which basically is a block in her liver duct, and they would have to perform surgery. I will spare you the emotional details for now (I'm sure I will provide a sappy emotional break down post soon), but you can imagine the response we had.
We headed up to the hospital and stayed for two nights while they performed blood tests, x rays, ultrasounds, ect. The GI doctor met with us to discuss what they were finding. Based on the ultrasound she believed that in fact she did not have biliary atresia but possibly a very rare syndrome called Alagille Syndrome. .
They believe this to be her diagnosis because she has a mutation to her vertebrae called "butterfly vertebrae". It doesn't cause any problems for her, but just a slight deformity that was caught on her x ray. Because of this they began to explain what Alagille's is.
Alagille's can effect the heart, liver and kidneys and cause many complications.
They believe that her liver bile ducts are malformed. Unfortunately with Alagille's there is not a surgery or "cure" for this condition. This syndrome is a genetic mutation that she would have been born with and can be hereditary. The next step was to have her heart and kidneys checked Thankfully she currently just has a slight heart murmur and her kidneys are great. This is a huge blessing.

So what did this mean for her?
Well if you google "Alagille Syndrome" you will see that there isn't much that can be done. This syndrome is so rare that our family doctor even had to look it up. Dornbecher's children hospital currently only cares for 5 patients with Alagille syndrome.

We basically have to watch and wait to see what her liver does. What is happening, in basic terms, is her liver ducts are unable to clear out the bilirubin properly, which causes a back up. The bilirubin just keeps being re-absorbed into the liver then into the blood causing her to look jaundiced. The liver becomes irritated with the bilirubin backing up and can cause liver failure. We don't know how long this will take or if it will happen. So we watch and wait. She can begin to have side effects such as severe itching and failure to grow. The itching is caused by the bilirubin being built up and can be very severe. If this gets really bad they can give her medication.. She also will be on the smaller side. Because bile helps absorb fatty acids, she can become vitamin deficient and unable to gain weight at a normal rate. So it is important she eats a lot. She will always be smaller than the average girl. We are still awaiting the official results from the genetic test to confirm Alagille. We should have the results by the end of the month.

What happens if her liver is going to fail?
Basically the only cure is a liver transplant. She would only need this if she begins to have serious side effects and her liver begins to enlarge and harden. Thankfully the liver is a magnificent organ and she could even use a live donor because the it can grow if removed from someone else.


So what are you doing now?
I feed her like a maniac. My goal is to keep this girl growing! We also supplement her with a formula called Progestamil. She also takes a multi vitamin to help with her vitamin deficiency. Lastly, she is taking a medication called Ursodiol to help break down the bile and keep the itching away.

For now we just deal with the fact that she is smaller than average and she looks like she had a bad spray tan.


We just had an appointment today and will have updated lab results tomorrow. This will tell us if her Ursodiol medication has helped break down the bile. For now she is actually doing really well and gaining weight! They were very impressed with her growth rate.
Next, we go back to Dornbecher's in two months to have her checked out again. We also will follow up with the cardiologist to make sure her heart is doing well.

If you are the praying kind..
We are praying that her bilirubin gets moving through her liver and that she does not have to suffer from that awful itching. We are also praying she continues to grow at a good rate. God has been so good to us through this whole ordeal. She has been blessed with amazing doctors and is doing the best she can do considering the circumstances. We know He is in control and has a great purpose for her life. He has created her and loves her even more than we do. He has great plans and we are trusting in Him.

Proverbs 3:5-6

Trust in the Lord with all your heart
    and lean not on your own understanding;
 in all your ways submit to him,
    and he will make your paths straight.

My favorite song right now is "Strangely Dim" by Francesca Battistelli. The chorus is:

"But when I fix my eyes on all that You are
Then every doubt I feel
Deep in my heart
Grows strangely dim
All my worries fade
And fall to the ground
Cause when I seek Your face
And don't look around
Any place I'm in
Grows strangely dim"

 

 

 

So that is a quick run down on what is going on with our baby girl. I will be posting updates and how we are managing through this.... it's a whole whirlwind of emotions people!

Thank you for your prayers,
Emmery's Mom