Ella Grace: Fighting PFIC at Seven Months Old | Fairbanks, Alaska

This is Ella.  

  Ella.

Ella.

This is Ella's mama.  

  Kassandra.   

Kassandra.  

And this is Ella's family.  

  The whole crew.  

The whole crew.  

This is Ella moments after she was born.  (Yup, I was there.)  I think you can feel the ecstatic reverence of her family's gaze in this picture; she was an answer to their collective prayers, and they chose Grace ("God's favor") as her middle name to codify how thankful they are to have her.  Attending her birth was one of the more remarkable experiences I've ever had.  

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Ella Grace is seven months old as I write this.  A little shy of a month ago, everything changed.  Kassandra texted me over Labor Day weekend to let me know they were in Anchorage in the Providence PICU.  Ella was in liver failure.  

I can't convey how shocked I was to hear that.  Liver failure??  This of course pales to what Ella's family was experiencing.  (*This seems like a good time to note that this whole entry is a paraphrased summary of second-hand narrative - there are of course a lot more nuances to everything.  But this is the jist, as much I've been able to piece together.)  After months of mild but nagging concern, Kassandra and Mike again brought Ella into Urgent Care, never expecting that they would be aboard an air ambulance to the PICU mere hours later.  All told, they spent a week in Providence with little more than the clothes they had thrown on that Monday morning.   

Ella improved rapidly.  She was able to leave the PICU in favor of a regular children's ward room after a few days, and soon they no longer felt she was in liver failure, but referred to the episode as a liver injury.  But they still didn't know why.  There were a whole lot of tests and a lot about what it wasn't (and a lot of stuff on the "wasn't" list was GREAT stuff to have ruled out!), but by and large it was still a mystery.  The Ryan family was discharged and able to come home to Fairbanks (while still remaining in close contact with Ella's new specialists in Anchorage) still waiting on answers.

The day after they returned home, you could see how improved Ella was - barely a trace of jaundice even in the whites of her eyes.  There was so much relief in her improvement.  

  Why yes, I  am  a living Cabbage Patch Doll.  

Why yes, I am a living Cabbage Patch Doll.  

But it didn't last.  Slowly, her liver enzymes started to show deterioration again; she had to wear little baby socks over her hands to stop her from scratching the terrible itching; and jaundice begin to creep across her complexion again.  At this point, the Ryan family prepared for a trip to Seattle Children's Hospital for a camera-assisted liver biopsy and exploratory surgery.  

As it turns out, one of the dozens of tests they'd been waiting on came in with genetic results just before they left for Seattle.  The biopsy surgery went well (apart from being terrifying, of course), and the next day, they got the news that the biopsy confirmed the test results.  

In Kassandra's own words: Yesterday’s biopsy confirmed [Ella's] diagnosis of a very rare genetic disease called Progressive Familial Intrahepatic Cholestasis, or PFIC. she has a mutation for Type 1, and for Type 3. However, since she only has one mutation for Type 1, they aren’t diagnosing her as Type 1, because it typically takes two mutations for Type 1 to present as disease. So she is officially diagnosed with PFIC3. In most cases, Type 3 is “better” to have than Type 1, but not always. This disease presents differently in everyone, and it’s not common enough for them really to know what to expect for Ella. At some point, she may need a liver transplant. Or her liver could stabilize and potentially be ok.

There was talk of removing her gallbladder, but that won’t be happening at this time, and we are praying it becomes a non-issue entirely.

PFIC is characterized mainly by the intense itching that comes from bilirubin build up in the system. We have a starting medication to try to help keep it at bay that we will use as needed. And other options to try later if it doesn’t work.

The biopsy also looked to see how damaged her liver is. Untreated PFIC will often lead to cirrhosis, and they wanted to make sure Ella wasn’t heading in that direction already, and she’s not! There is some very light scarring at this point, but nothing that they are terribly concerned about, and that will continue to be monitored as well.

So now the plan is simply to monitor her. We will need to return to Seattle in about a month for a follow up, and we will repeat labs at that time. In the meantime, we will continue the medications she is on to help keep her bile thin, and to help supplement her vitamin levels. We will also keep doing weight checks at home.

... we were devastated by the news we were given. Today we have more hope for a full life for our girl. This isn’t the answer we were hoping for, but God is still GOOD. We still trust Him and the purpose he has for Ella. I know we will have hard days, especially given that we really have no concrete answers here. But God is faithful and he will walk through this with us! Thank you all so very much for your continued prayers, they have carried us through this very stressful and uncertain time. 💕

Kassandra's strength humbles me greatly.  I have so much admiration for her ability to be grounded yet hopeful, joyful, in the face such unexpected adversity.  

If, like me, you're aching for any way to extend a little love and support to the Ryan family during this time, you're in luck.  Friends set up a You Caring page to collect donations to help offset all the incidental costs of travel and out-of-pocket medical care.  In addition, donations of Alaska Airlines miles would be incredibly appreciated - if you'd like to donate miles to the family, please contact me directly for info.  More than anything, the Ryan family would appreciate your love, thoughts, and prayers for Ella and their family.  

Shortly after sharing the diagnosis, Kassandra wrote this on her Facebook page.  I just wanted to take a minute to say a huge THANK YOU. It does not feel like enough, a simple “thank you”. But I say it from the bottom of my heart. I am so blown away by the support we have received from everyone, even complete strangers to us have donated to help offset the costs of all that Ella is going through. It has been such a blessing for covering the cost of simple things that would have been stressful without this help. Such as meals when we are out and about, and when we were in the hospital, and supplements we got for Ella today. Little costs that really add up. And these funds will help us cover Ella’s main med that she is on (that thus far, insurance is refusing to cover) for the near future. Every single one of you who have donated have really helped to lighten the load in a big way, and we are just so grateful. I never expected to receive the amount that we have. So thank you for giving so generously, each and every one of you. It means so much!

Fairbanks, I love watching you rally around the people you love.  You rock, little city.  

Ella's YouCaring page is here.