This..or..That

Mito has been on my mind every second, of every day since it was muttered to me in that doctors office one afternoon. I have consumed myself in complicated mito research, trying to understand the diseases and its many ugly faces. Learning, investing, and crying over little mito children and their story, their struggle, their victories, their journey. I couldn't relate to any one specific story though, because mito doesn't affect any two children the exact same way. Every one with mito is unique in their disease. So I spent my nights dreaming of how Areli would be affected. How will her disease progress? What ugly face of mito will I become accustom to? But every now and then I would make myself step back and remember, we aren't even diagnosed yet, it may not be mito. Breathe, and wait.

In the back of my mind I had hope the past 7 months would turn out to be a fluke of some sort and they would tell us her liver looked normal. That her enzymes went down and this would become just a weird unknown event and she would grow and live a normal little girls life... There is no way to describe the moment you are told your child has a disease. The moment the little bit of hope you had, dwindles away. A life time of obstacles, doctors, hospitals, unknowns flashes before your eyes.

Areli's biopsy results were in. Her liver is very fatty, which we knew, but most importantly her mitochondria is abnormal. They are doing more testing though, to get a definitive diagnosis. It is narrowed down to two possible diseases. Mitochondrial Disease ..or..Cholesteryl Ester Storage Disease This..or..That.

While Cholesteryl Ester Storage Disease (CESD) isn't mito, it isn't any more comforting. It is even more rare than mito, with even less research and knowledge. There isn't a cure for either. They both have unknown future/prognosis. Death is an all too common result of both diseases. They both scare the hell out of me. This..or..That.

I find friends and family asking me which we are 'rooting for', which is the less of two evils. Not that I can control or pick one (because frankly I wouldn't choose ANY) I have concluded at this point. I. Don't. Care. Either way my family's life has changed. Either way we have a battle to fight. Either way we have a BEAUTIFUL baby girl. Either way we will, SHE will survive. This..or..That.

This..or..That

This..or..That

This..or..That

It doesn't matter, THIS is what matters:

Love, Mama D

Liver Biopsy #2 & #3

Areli's biopsy was scheduled for 2:30pm at Children's Hospital on Wed. January 16. (Her 3rd time being put to sleep in 5 months). The day started out good, Areli was in a very good mood as I loaded her up with milk before she had to fast for 4 hours before the procedure. ( She usually eats every hour-two hours to keep her blood sugar up, so this is very long for her).

Happy silly face

We headed to the hospital at 10:30 am and her happy mood didn't last long, she cried the entire way there and she had officially started her fast so no boobie until after the procedure. She was NOT a happy camper! We checked in and she had her blood drawn right away, then we checked in with pre-op. She changed into her hospital gown and we waited and waited. Somehow I got her to take a quick nap and she woke up in a semi better mood, just as long as mama was holding her.

Before the surgery, we did an ultrasound to mark the spot Dr. M would go through the ribs to the liver, then finally they took my baby girl back. My mom, Hayley and I went to grab lunch and a coffee and before we knew it Areli was done! The past two times she has had anesthesia she would be screaming her head off by th time I was brought to recovery, however this time she was quiet and sound asleep. 

Dr. M took two samples of the liver, one to test now and one to freeze for later tests. Each were about two cm in width and an inch in length.

We were then moved to our room on the 8th floor with a view of the Rocky Mountains. 

With the combination of anesthesia and morphine she received, she was very tired and pretty much slept the rest of the day. She got lots of snuggles from Oma, Hayley and Mama.

She then had more blood drawn, once 4 hours after her procedure and then again 8 hours after her procedure to check for internal bleeding and she was healing just fine. 

A volunteer came by and brought Areli a present, a homemade blanket, a book, and a teething toy. 

We then settled in for the night.

Areli had a very restful sleep, while Mama on the other hand didn't sleep at all; however morning came quick and Areli was MUCH more awake and alert and happy then she was after her surgery. We were quickly discharged and now we have the uneasy game of waiting for results. 

Looking at the mountains with Auntie Hayley 

When we got home, Leilani ran to us both and said "Oh I'm so happy you two are home!" and gave Areli the biggest kiss and hug. She is the BEST BIG SISTER.

Love, Mama D

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