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.
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.
Here's to our beautiful and hilarious baby girl.
Photos by Valerie Hibler Photography
Update on her health:
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.
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
Thanks for your prayers,
Emmerys Mom
