Hurry Up and Wait

We spent all day yesterday anticipating a call from our Geneticist. The conversation we could only pray would go in our favor and she tell us "The labs, tests and history we have collected so far is enough to secure the official diagnosis of an UCD / OTC Deficiency". The moment we have our official, documented diagnosis, we can move forward and make contact with GI, Hematology and the Transplant Team. Everything is riding on the moment we can secure this diagnosis. Dr. Young and I spoke several times yesterday and were both growing more and more impatient when we weren't hearing anything. She emailed our next point of contact, another Bio Chemical Geneticist that is not local, but has been giving us a lot of direction with treatment lately. Last night Dr. Young and I spoke again... I think it's safe to say that she is much more worried than I am.

If nothing else can predict what Annabelle will do, her history will. Every single time Annabelle is well and appears 'ok' on the outside, we hold our breath even tighter and brace ourselves for the fall. Because it's inevitable. It IS going to happen, it always does. Annabelle appears well right now, despite her g-tube site that we can't quite control. Although, her interest in food is becoming more and more demanding.. her energy level is also becoming more erratic. I said this the last time I watched Annabelle go thru this spell "It's a pleasure and warms my heart watching her smile, run and play - but at the same time, I know that isn't my little girl in her natural state." She's going back on a 'high'.. we didn't know what was causing this high the last time until we did her labs and found her ammonia level was extremely high. That explained her agitated behavior. We are slowly moving back to that place.. I am watching Annabelle play Ring Around The Rosie over and over and over and over until she falls, laughs, crawls around like a maniac and jumps up to do it again all the while yelling "HAPPY MOMMY! ME! ANNABELLE! HAPPY!". How is it that something so heartwarming to hear those words; everything that I've ever wanted for my daughter.. to actually TELL ME SHE'S HAPPY in life.. and when I do hear the words, my heart skips a beat because it means she is getting sicker and sicker in front of my eyes. Why can't it just be an honest, genuine feeling to my little girl. To genuinely feel happy and healthy both at the same time. Is that too much to ask out of this life? 

Dr. Young and I are both sitting on the edge of our seats, we're sweating bullets and consciously reminding ourselves to inhale and exhale. We are just waiting for the point in which Annabelle spirals away from us this time. The moment the gun shot sounds and our reaction time and reaction plan is once again tested to see how efficient we can move into action. I don't want to be tested. Dr. Young doesn't want to sit by her phone waiting for my updates as to the safety of Annabelle and which doctor/where wants to throw road blocks in our way when we're literally fighting to save a life. It's a period of time where everything moves faster than you can imagine, everyone holds their breath and everyone prays for the safety for Annabelle until this spell is once again over. We don't have time to do this again and again. We need the diagnosis that is already in black and white within all her tests, labwork etc. We need that piece of paper stamped with OTC-D handed over so we can run like crazy to treatment while we still have time.


As of this morning, we still did not have any news from Genetics. We did however hear from the out-of-town Bio Chemical Geneticist - He reviewed all Annabelle's history once again, reviewed her last labs and contacted Dr. Young. He agreed that she has every test indicating OTC, she has every lab indicating OTC and she has every sign/symptom/history to support the OTC diagnosis. But he also said that we will need one final test to secure everything to ensure we get the most expedited support with the Transplant Team.

OTC Background
Most everyone, including Annabelle was born with a healthy liver with all the necessary enzymes functioning and working properly. Annabelle's liver was working until one specific change took place: The OTC Gene that is part of her Urea Cycle in her liver, BECAME MUTATED. Once that mutation occurs, all the medical issues follow. The mutation of the gene is what defines an OTC Deficiency.

The test we are asked to perform will study Annabelle's gene's in an effort to find THAT ONE MUTATED OTC GENE. Once they find the OTC Gene and confirm it is mutated, we have our diagnosis.

Sounds easy enough, right? Wrong.

• It takes several days/weeks to receive all the supplies needed to perform the test locally. So we don't have to travel to perform the test.
• The collection is then strategically packaged and overnight-ed to the lab where it will take 4-6 weeks to receive any results back. That is only if the collection is still in usable condition once it arrives at the lab. 
• There is only an 80% chance this test will actually successfully find the mutated gene, even if the diagnosis is OTC Deficiency, the Mutation Gene Testing is not fully accurate nor reliable. But if we can support our diagnosis WITH the confirmation of the gene mutation, we will have much more luck moving forward.
• The testing is not covered by insurance, there fore it is all treated as a cash procedure. 
• We simply do not have that time.. we don't have the time to spend the next month and a half waiting for a test to come back, before we can make the efforts to move forward. 

My heart is pounding thru my chest. We're holding our breath and praying Annabelle remains stable until we decide our next moves. I have several options to weigh as to how we want to proceed right now. Were praying to hear from Annabelle's Geneticist for another opinion, hopefully that information will guide our decisions. 

Decisions, Decisions. Hurry Up and Wait. Prayers, Prayers. 

Pour Mommy Some Wine.