You deserve to know.

December 16, 2013 is the most defining day of our 2013 Journey thru hell. 

In the midst of 4am internet searches to find answers for my daughter, I stumbled over this one particular doctor. I didn’t actually understand any of his specialties, but a few acronyms that he’s associated with made sense to me.. his picture kept standing out.. I moved on. I kept searching.. for days and days I searched for answers for my daughter. Trying to find a diagnosis and explanation for what’s happening to her poor little body.
I'm touching base with our doctor daily. We text, speak over the phone and FaceTime when we need to really demonstrate concerns. For weeks.. months.. a year I have done this. But this time something is different. The pressure to find an answer has never been so prevalent. 

Ive written before about these crazy instincts and intuitions that I never believed I actually had until living thru this with Annabelle. My intuition has driven and continues to drive the majority of this baby’s care. It even blows my mind to say it - as mind-blowing as it has to be to read those words. (This is the moment that I just realized: NO WONDER doctors think I am nuts!) When something doesn’t feel right, my guard rises.. I start making phone calls. I begin taking pictures, videos, texts, and writing down notes more frequently than ever before. I watch the child like a hawk. 100% of the time I will find that there was yet another shift in her health and I was picking up on it far longer than I should have. Creeped out yet? yeah, me too.. 

I continue to search, read articles, study hospitals, specialty centers, children’s centers, special needs children clinics etc. While Dr. Young searched frantically outside the US for help, I exhausted my energy continuing to find answers within the states. This doctor appears again. I keep searching.. I Google his ‘specialties’.. I keep searching, days pass and then the doctor appears again. Finally I move. I snap a picture of this Doc from my computer screen and forward the image to Dr. Young “Hey, just check this guy out – I have nothing to go on, but do you think you could contact him and see what he has to say?” She agreed and sent him an email the next day. 

He called her within the hour. 

At 11pm that night you would find me standing at my dresser with a piece of paper, writing down their conversation as frantically as I could and a shaking hand. I have never been so lost for words, so clueless about a diagnosis, or terrified that he was so close and with all Annabelle's labs supporting his immediate-over-the-phone-diagnosis, I've never been so uncomfortable to hear her words as I was that night.. Dr. Young and I both shared quite a few Non-Christian words over the phone. . . . . we also shared many tears because of what this was telling us all about Annabelle and what has been happening. I couldn’t stand up long. My knees kept buckling. I had to eventually stop writing because my tears were ruining the paper below my cheeks. I sat down on my bed with the lowest dropped head and we just talked.. and talked, and talked. Neither of us were as educated that night as we are now. We’re both now practically experts around this disease. But that night was hard. It was defining for where we would move in the future. I am grateful for the hours we spoke because it was midnight. Our instructions from this miracle-doctor were to MOVE FAST – and we would, but we couldn’t at midnight. In that moment of a conversation we could only talk and discuss hypothetical explanations between one another re: Annabelle’s history. We carried our conversation back to my pregnancies, to Madelynne, to Genetics and back home to Annabelle’s current condition. And upstairs snoozing in her cozy bed, she wasn’t well. When our conversation was over, we both gave one another a pep-talk, a virtual hug and I flooded an ocean of gratitude her way. 

I hung up the phone in disbelief and looked up – I found my reflection in the mirror directly in front of me and have never seen that woman. That was the truest image of TERRIFIED I have ever seen on my own face. I was colorless and desperate, and felt as though my entire soul had been ripped out of my chest and stomach and I was left with only the emptiness of skin and bones still responsible for caring and loving these two beautiful little girls. How is that even possible after that conversation? 

Numb. 

Numb hasn’t left yet. Numb is the person that is typing this post. 

lethargy - abnormal drowsiness
anorexia - loss of appetite - failure to thrive
low muscle tone
hypothermia - low body temperature
seizures
neurologic posturing - abnormal body position due to brain toxicity
inconsolable crying / screaming
vomiting
growth & developmental failure
loss of consciousness
coma

Ornithine Transcarbamylase Deficiency (OTC), we believe this to be Annabelle’s working diagnosis.
OTC is part of a Urea Cycle Disorder, UCD. 

The name of your UCD tells you which enzyme isn't working, OTC is one of the 8 enzymes of the Urea Cycle that make the liver function. OTC is the specific enzyme we have pinpointed in Annabelle's system that is not functioning.  

I am going to try my best to break this down in the most simplistic terms. At the bottom I have attached a few sources to explain the process and some FAQ links. It’s an easy concept at 30,000 feet but it becomes incredibly detailed the more you must understand about the disease in correlation with the patient suffering. So I will do my best to KISS (great acronym from my college professor: Keep It Simple Stupid).

Taking you back to Biology 101:

We know the liver works as the body’s filtration system.
Your body needs protein in order to survive. Protein is used to build muscle, skin, blood cells and more.
Your body breaks down protein and turns it into amnio acids. What the body does not use is turned into ammonia and filtered by the liver out of the body (thru urine).

In a Urea Cycle Disorder, the ammonia produced by the body is not filtered out properly and the liver begins to fill with ammonia. Soon that ammonia needs to be filtered out and it is done so directly into the body's blood stream. If you just inhaled with a scrunched face, then yes, you get it. Except buckle up - because it only gets better .. and by better, that's my sarcasm, it gets a helluva lot worse.

The body's Neurological and Nervous Systems are both especially sensitive to these high levels of ammonia and causes mild to severe, irreversible damage. Everyone's systems respond differently to UCDs. Once the enzyme stops functioning, death can occur within days or in other cases, will continue to manifest slowing, causing damage to the brain and multiple systems until the body self-destructs to a catastrophic point that it can no longer function. 

Nutrition

• The more protein in your diet, the more ammonia your body produces.

At first we thought: "If protein is the cause of the problem and hurting her.. than feeding her zero protein is better, right? Wrong. 

• Without any protein, your body breaks down it's own muscle and tissue to survive - by doing this, it produces ammonia on it's own, but at a much higher rate. This process is called Catabolysis.  

Our first strategy after discovering the diagnosis was to figure out how to safely balance her diet, with the perfect amount of protein that isn't too much that it overly produces ammonia, and isn't too little that the body breaks down itself. Goldie Locks??? 

We are doing this under the strict guidance of a Genetic Metabolic Dietician.  Annabelle is taking exactly 40oz total of liquid formula every day. She takes continuous feeds during the night and never exceeds more than 2hours between feedings during the day. We will likely have to transition to continuous 24 hour feedings without any relief of being off a pump. 

Side Note / Salt in the wound: We received our letter two weeks ago that insurance will not participate or cover any enteral feedings for Annabelle. Elecare used to cost us $3,200/mo and that was easily accessible thru a medical supplier, her intake was also much lower than it is now. I cannot imagine what this is going to cost us. We are waiting for the followup bills now in order to make our next order.. I hold my breath every time I open the mailbox.

 Hyperammonemia

•  When ammonia levels rise to a crisis point, the person enters a critical phase called Hyperammonemia. This is the place an OTC / UCD patient never wants to be.. without effective, immediate treatment, this process can escalate to a catastrophic state extremely fast, it does damage to the systems and brain at a rapid rate and can often be unpredictable. 

Therefore Annabelle's diet is handled very carefully around the clock. 
She cannot lapse between feedings or the body enters a catabolic state and launches her into Hyperammonemia. We have seen this process take over specifically at least three times.

1. The first time happened before she was being tube fed and she wouldn't eat. After two days, she entered Hyperammonemia. During this time we were rushing to MCV repeatedly for seizures, loss of consciousness, temperature fluctuations etc. This went on for months.... each time we were sent back out the door, all the while Annabelle's systems were being destroyed... it makes me sick to my stomach just thinking about what was happening to her in front of our eyes and we didn't know. She would sleep for 20-22hr a day some days.... and it all could have been stopped so long ago :(

2. The second time was the week I stopped feeding her Elecare because we finally determined the ingredients were hurting Annabelle... we just didn't know why. We also didn't know how dangerous it was to her system to 'fast' and stop eating.  In retrospect this was the worst decision we could have made.

We couldn't get our hands on the new formula for 4 1/2 days. By the first afternoon we stopped her feeds, Annabelle's condition began to decline rapidly. During that week Annabelle experienced numerous seizures, temperature fluctuations, in and out of consciousness until she finally fell into a coma. 

She was not coherent or responsive after 12 hours once the feeds were stopped. 

3. The third specific instance this has happened was last Tuesday in the hospital ER. I warned the staff repeatedly that we needed to feed Annabelle ASAP and they did not cooperate. She crashed hard, unresponsive, unconscious, her glucose levels were thru the roof and we didn't get 'annabelle' back for over 4 hours. The time lapse between her last feed and the rate of which she entered hyperammonemia, was less than 6 hours. Her condition is worsening before our eyes. The window her little body allows before entering Hyperammonemia is growing smaller and smaller.

The ED Attending was shocked she avoided a coma based on her ammonia levels - we were all shocked actually. Relieved she was still 'with us', but scared to death because we know during that time the ammonia levels were the highest, damage was rapidly being done to her brain and full systems. We don't know how much more damage her little body can tolerate before the process of self-destruction takes place and we have no way of stopping it's manifestation. Time isn't exactly on Annabelle's side.

A diagnosis is extremely difficult to capture.. although we are working full speed ahead to do so. It's expensive, and when I say expensive, I mean mind-blowing. Without a diagnosis though, our treatment options are limited to "Enjoy your baby at home..." 

While impatient last week, Annabelle gained the attention of many extremely concerns doctors that pleaded to take her case. The wait list we have been working thru to make headway was pushed to the side based on her presentation in the hospital and her history. 

Treatment options for this diagnosis. 

• The most desired treatment is a complete diet change to eliminate all but the required amount of protein your body needs and add a medication to remove excessive ammonia from the blood if needed. This isn't an option for Annabelle as she already has established Neurological and Nervous System damage, and has repeatedly entered hyperammonemia. (the more frequently your body is exposed to those conditions, the more prone you are to entering them in the future.. with or without any warning or influence from excess protein/ammonia). 

• Second option is for continuous dialysis. At this point, Annabelle no longer qualifies for this either. The threshold of time her body allows before entering its crisis point is too small to assume dialysis will protect her. The liver is being damaged too heavily to assume its reliable to withstand constant dialysis and will be able to function without episodes of hyperammonemia. 

• The team we met last week determined within 24 hours of meeting her and our family; that Annabelle's survival will depend on a Liver Transplant.   

So that is where we are. 

Numb. 

We do not know the extent of damage that is already done to our little girls brain, heart, liver, gi, kidneys, immune system, nervous system etc. At this point, I have no interest in gaining that information either. It can change in a matter of seconds if her health shifts - and personally, I don't need another reason to emotionally collapse.

We do not know if she will survive another episode as she has in the past and we have no way of gauging when it may occur.

We do not know if she will be accepted and meet the qualifications needed for a transplant, nor that she will receive one soon. 

We do know this is a genetic condition. 

We do not know which of the two of us, AK or myself, passed this disease onto our daughter. At this point, we do not have any desire to learn that either.

Genetically speaking. We do not know that Madelynne is safe and also does not have this disorder. The OTC enzyme that is not functioning in Annabelle's system may be functioning fine in Madelynne's.. until the mutation process occurs. If that were to happen, based on Madelynne's diet vs where Annabelle's minimal diet has always been, Madelynne stands a much higher chance of this disease reacting dangerously and exponentially faster than it has to Annabelle. 

Today more labs came back and Dr. Young and I reviewed them for quite a while. Annabelle's OTC Levels have unfortunately taken a dramatic leap in the last three weeks. We learned the formula regimen we were praying would work, isn't working and ammonia is still circulating in her blood. Albeit not nearly as high as before, but still prevalent and unsafe. The report was sent to the Genetics Team in hopes this will secure our diagnosis without needing any further testing. Once we have a solid confirmed diagnosis, we will meet with the GI and Hematology Team to make all arrangements with the Transplant Program and begin that process. I will move forward with Annabelle and our next steps with GI and Hemat, while Dr. Young will then shift her focus from Annabelle to Madelynne and determine what arrangements and tests need to be made to also protect her. 

You all deserved an update. You deserve an explanation for my disappearance all around, lack of any updates or shared information. But each and every one of you have been admirably respectful to our family during this time and have never ended the prayer chains for our little girl. I apologize for the delay but thank you for the understanding our family's need for some alone, quiet time with our little girls. We will never, ever give up fighting and moving forward but our position has shifted in our parenting. Annabelle has always delivered the most incredible perspective to our home, but never as clearly as she has now. Our time is solely focused on her very best quality of life, full of giggles and smiles every chance we can. That is my responsiblity as her mommy and AKs as her daddy. I feel comfortable and confident with the team caring for Annabelle. Our home is BLESSED with the nurse caring for her full-time in our home that loves Annabelle unconditionally. Life has shifted and perspective is crystal clear. Things are falling together as quickly as they're falling apart, but as long as we keep standing back up, we will be ok.... I hope so at least.

Links that may be helpful if you're interested.

http://www.nucdf.org/ucd_symptoms.htm

http://emedicine.medscape.com/article/950672-overview 

http://rarediseasesnetwork.epi.usf.edu/ucdc/learnmore/faqs.htm