Sick little Areli

We should be in the hospital recovering from Areli's liver biopsy right now, but Areli got very sick ths past week and we had to cancel and reschedule two weeks from now. I am SO upset about it  because it is prolonging getting a diagnosis, but all I can do is nurse my girl back to health so she can be ready for the next one.

This sickness feels like it is never ending! It has been 4 days of fever and a trip to the ER to check Areli's liver panel. Thankfully her liver function is holding up enough that we only spent the night in the ER and were able to go home early morning. So now it is just the exhausting task of monitoring her temp, preferrably without drugs because of the effects on the liver, monitoring her milk intake and diarrhea ( this is the most she's gone in her entire life!) and cleaning boogies and vomit. Sound fun? Leilani had this sickness the week before, just not as bad, so I am ready to kick this cold in the ass! I have been disinfecting like a mad woman!

I hate to see my babies sick.

But on the plus side with all my down time, I made hats out of old sweaters!

In ER 

Welcome to Holland

Saw this and loved it! Especially because my dad really was from Holland.

WELCOME TO HOLLAND

by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Mito

We saw Dr. M today... Just as I suspected all her blood work indicates mito (mitochondrial disease). Her liver enzymes are still elevated too, which is not a surprise. The only way to confirm this is another liver biopsy which we have scheduled right after the holidays. Poor punkin this will be her 3 rd time put to sleep in 4 months. The good news is her muscle strength seems normal so no muscle biopsy will be needed! Also that gives me hope this disease is contained to her liver. This appointment her liver wasn't enlarged but it was hard and Areli has been scratching herself which means her liver isn't working too well.

If the biopsy comes back positive, which we suspect, we will see Dr. V a mito specialist at Children's who already has been consulted to about Areli. It seems like all the doctors have been meeting about her because she is such a puzzle. You don't want to be that patient who gets VIP treatment, yet if you have something wrong its nice to have the VIP.

There are hundreds of mito diseases so it will be Dr. V's job to figure out exactly which one and then we will know if we will need to test Leilani, Areli's older sister. (Who has been healthy so far her whole life). Just to be safe.

SO BRING ON THE BIOPSY!! We're gonna get through this together!

Update

So, as you all know we were expecting some test results before Thanksgiving, well that didn't happen. I did get a call this past Wednesday from our nurse to let me know that two tests were back, but there was one more my doctor was waiting on before she calls me. The two tests came back abnormal, one of which was elevated lactic acid. This is the first time any test (besides the liver enzymes)  has come abnormal so I think we are on the path of figuring this out. We just have to wait for Dr. M to call in hopefully one more week. At the moment I feel anxious to get an official diagnosis and start to move forward with early intervention, but completely and utterly heartbroken that it might be a mitochondrial disease. I guess I'll hold it together until it is official right?....Anyways, here's some adorable pictures of my littles; they always make me smile.

And we're off to see the doctors, la la la la la

On November 7th, we went to see Dr. K for the results of all the blood work. Anyone surprised it yielded no more answers? We did however discover a new symptom. Areli lately only poops every 7-10 days at most and when she does, it's not much at all. Thankfully, she pooped while in the office and they took a sample that showed positive for micro amounts of blood in the stool. So, I am on an even stricter diet, what you ask? Well, I am gluten free, dairy free, soy free, egg free, peanut and tree nut free. Go look in your kitchen and see what contains one or more of those ingredients... I'll save you the time EVERYTHING does. Yaayyy, not. 

Dr. K at this point doesn't know what else to do for Areli, so he referred us to Dr. M a liver specialist at The Children's Hospital.

On November 15, we went to see Dr. M for an appointment that lasted 4 hours. We went over all of her history, Dr. M consulted with many other doctors and decided to test for a rare mitochondrial disease (one of the few she has not been tested for yet). Mitochondrial Hepatopathies, you can read about it here. The blood test measures the amount of lactic acid in the blood stream, so they could not use a tourniquet when drawing the blood. Let me tell you it is almost impossible to find a vein in a chubby infant without one. It took an hour and multiple pokes to get it. My poor baby girl was in so much pain, we both were in tears. When we were trying to get the blood, Baylor, were it is being sent, called asking about the status of it. I guess they were awaiting it and it was being sent express shipping that night. Talk about VIP treatment. We should have some results before Thanksgiving and for the first time since we were in the hospital, I am NERVOUS. If you read the link above she has all of the symptoms, aside from the lactic acid they are testing for. This is the first disease that sounds like it could be it and although I will be relieved to have a diagnosis and move forward with treatment, I don't really like this mitochondrial business :/ ..... we'll see...

All her owies and her swollen eyes from crying. 

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Important Info.

This is a list random but important things about Areli that are a need-to-know for someone who may have knowledge about this:

• Her poop is normal in color and texture
• Her urine is normal in color
• She is thriving; gaining weight and so far meeting milestones
• She is of Filipino, Indonesian, African American, and Canadian descent
• Her AST stays around 145-170, normal 20-60
• ALT stays around 55, normal 5-45
• GGT stays around 215, normal 6-19
• ALKP stays around 420, normal 145-320
• Her white and red blood cell counts are normal
• Tyrosine was 171, normal 22-103
• Ceruloplasmin low at 6.6
• PLT fluctuates between 705-680, normal 150-500
• Ferritin 469, normal 10-95
• She used to not make enough protein, but now she is in the lower end of normal
• Yellow-Orange fatty liver biopsy that presented unremarkable otherwise
• Inflamed bile ducts, otherwise normal in presentation (no blockages or masses)
• Random episodes of low blood sugar

*This is all I can think of for now, but will add to the list as we progress...

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Liver Transplant?

At this point, I was losing hope we will ever be diagnosed. So I ask Dr. K what his prognosis would be. He basically said, cross your fingers we figure this out or it just goes away because if her liver stays the way it is, she will need a transplant...

A TRANSPLANT- a word a parent never wants to hear.

So of course I was locked and loaded with questions about this.

When?: Unknown, just whenever her liver isn't functioning well enough anymore

How?: Better to use deceased liver; however live donors are accepted

Can I be a donor?: When the time comes, anyone can be tested as a possible donor 

Basically, if we don't figure out why her liver is the way it is and stop it, she will need a transplant. It could happen this year, it could happen in 5 years, it could happen in 20 years, no one knows. Like I said, fatty liver disease usually doesn't show symptoms for 20+ years; however Areli already is so she is 20 years ahead of the game so how much longer does she have? we don't know. 

I try to hold on to hope it will just go away on its own, but given the fact even when her jaundice is low, her liver enzymes STAY very consistently elevated doesn't really suggest it will. But the thought of watching her get sick enough until she is in end-stage liver failure, just so we can be put on a list for a transplant is unbearable. Something about waiting for her to deteriorate before we make her healthy seems like a sick joke.

So, before we give up hope, Dr. K suggested we do a specialized MRI of her liver. For this, Areli needed to be sedated and spend a day in the hospital so she could come off anesthesia.

 

Areli did great and we were allowed to go home a little earlier than expected!! We returned a few days later to Dr. K for the results and even with my hopes dwindling, I just KNEW that something would come from this test... My heart was once again broken when the results showed nothing we already knew (fat in the liver). 

Dr. K and the doctors at the Metabolic Clinic are constantly consulting with colleagues about Areli and each found more tests they wanted, so two weeks after her MRI we were back to the hospital for blood work. It was the worst blood draw experience we have ever had!! They needed so much blood they had to calculate exactly how much they could take because they were at the cusp of taking too much. She had to be poked in both arms because the first arm ran out of blood. All together they took TEN vials of blood. My poor baby was almost bone dry and she has never cried that hard out of any of her procedures. 

Not all of the results are back yet, but the ones that are, once again, show nothing more than what we already know, that she has liver disease... I am beginning to wonder if putting her through all of this is the right choice....   

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea