Mystery Diagnosis

Updates aren't always easy. It takes me so long to update following discouraging hospital visits. It's not that I want those that care to stay in the dark on our journey, I simply cannot rationalize the way some doctors think or make sense of the appointments myself to even try to share them with you! Unfortunately we had two of them last week and I am clueless what to share about either - because neither of the appointments made sense nor what we needed to help make any headway for Annabelle's care.. safety.

Monday we met with Gastroenterology. It's important to remain updated with our GI (although she's new for Annabelle, she's our 4th GI doctor in two years.) We did not see the GI for tummy reasons, we didn't see her for her Gtube site, feedings, weight/health, we didn't meet with our GI because of our Eosinophilic Esophaghitis diagnosis. We are staying in contact them solely to keep everyone up to date, weekly/daily/hourly re: any health changes in Annabelle and what that means when riding the cusp of a transplant. Annabelle's health changes often, and when it does it can decline rapidly to the point we could easily and quickly loose the potential as a candidate for a transplant. The specialists and our GI can gauge this better than I can, so for that reason we make visits simply for checkups so we can all be ready at the drop of a dime when the time comes to launch into whats next. 

I did learn more regarding the transplant at this last visit though. What I was interpreting as a 'Partial Living Transplant' is not partial at all for Annabelle. What would happen is that the living donor that is a match and donating their liver to Annabelle; 1/2 of their liver would be removed. Annabelle's ENTIRE liver will be removed and replaced with the donated portion of the new liver. The donated 1/2 liver will act as her ENTIRE liver. So while the donor is a partial living donor, Annabelle is still the recipient of a full liver transplant. This scares the bejezus out of me. Annabelle's immune system attacks absolutely everything. There is very little that we've found to be safe when it pertains to her Auto-Immune Disease, and simply the thought of not salvaging her own liver and trying to patch something together, the process of asking her little body to accept and not reject an entire new organ - God that is absolutely terrifying. I left with a nauseated stomach. The last thing I want to is to ever hand my child over to a surgeon for a transplant. However, for a while now I have been told by so many that this will save her life. I've accepted and embraced the transplant idea for the safety and best interest of my baby girl. And now, I've suddenly got cold feet at the thought of it's process. ICE COLD Feet. I want to pull the plug on it all, I want to cry and throw a tantrum, and SCREAM for all this to PLEASE STOP! JUST STOP! Just let me take my daughter home! She will be fine.. she will be OK if I love her enough. She will survive if I just do exactly as I am doing and read her bedtime stories. Maybe if I take her outside more and let her try to live more like a normal two year old? Yes, maybe that's it. Maybe if we just pretend this isn't all happening, she will be just fine! Just make it all stop.. make it all slow down and STOP! Please God, for this child, make it just stop :'(


Tuesday was another day and another round of hospital visits; Genetics, Metabolics, Dieticians, Labwork galore. Tuesday was also another flood of unexpected news that I wasn't prepared to hear.

This is the part where I still cannot wrap my head around the appointment and the conversations that took place in that room. There were a total of 6 experienced DOCTORS in our room at one point, all of which had a different set of questions and concerns for me. Names kept getting passed but who they were and which department they represented were hard to retain during the chaos. Some names I was putting with faces for the first time and were people I had been exchanging emails/phone conversations with for a period of time. Occasionally there was a resident who wanted to pry for information I was too tired of repeating nor did I have an interest in devoting my time to. It was chaos.. all the way to the moment we were leaving.

Basically, the thought process from the Geneticist and Metabolic Dietician we've been working with is that Belle does not have a Urea Cycle Disorder. This conclusion was based upon labs that did not ALL match perfectly for any of the UCDs to give us a perfect match. We have a flood of positive clues to a UCD but a perfect match to any of them in particular.

There is good and bad with this decision.
The Good: If it's not a UCD, then it's not OTC - which is great news for everything OTC means. If it's not OTC then there is no immediate reason we need to press for the transplant. And as you know, Im suddenly on board to cancel this whole transplant idea as quickly as I can after the Monday appointment!

The Bad: Whatever is wrong with Annabelle, presents itself with the exact same symptoms and also with the exact dangers of OTC. So while we don't have the OTC diagnosis, we still have all the potential dangers of the disease, but without an explanation. To me, this is 10x worse. My fear as a parent is that if I do not know what is wrong with Annabelle, then I don't know what is safe or dangerous in 'raising her!'. What if she accidentally eats something. What if a doctor puts her on a medication that contains a dangerous ingredient?

Perfect example: Soy can kill Annabelle. Did you know soy is in liquid anesthesia? Had we not known her allergies and their severity, Annabelle would have never woken up after her very first surgery last year! Did you know the flu vaccine has protein in it? What if I wanted to be cautious and give Belle the vaccine? That would have landed her in a coma within a matter of hours/days. These are the true hidden dangers that I KNOW about. Without a diagnosis, I have no idea of the hidden dangers that we DONT know about! I live in constant fear everyday that I will buy a shampoo or lotion that can hurt her, that running too far down the driveway and watching her fall down bc she is fully depleted of energy, that it can damage her even more. The fear is relentless and never-ending.

The Bad in not having a diagnosis is discouraging, heartbreaking and dangerous. I was NOT expecting to walk into the appointment last week and be told that doctors have concluded our best shot at a diagnosis, is now dismissed.

With that decision, we then evaluated Annabelle's diet. Because without the supporting diagnosis, the formula regimen she is on, can actually be more dangerous than helpful. However, we learned without this formula, her condition and health deteriorates faster than anything we've seen. So were stuck between a terrible rock and hard place re: what to do with Annabelle's nutrition. The formula isn't safe. The formula that should be used instead, is more dangerous to Annabelle than anything else. She cannot go more than 2hours without being fed. We chewed on a couple thoughts and suggestions as to what to do with her diet. I did ask to have a dietician come out to our home and help work with us to make safe 'meals' (ha! what a joke! a meal? we wish.) But until a dietician can come out, we need to meet with our allergist again to do a repeat of all our allergy tests to ensure we will be including only the safest foods in her 'diet' moving forward. They cannot use the tests we performed over the summer because they are now out of date and allergies could have shifted. (Albeit, we didn't have many foods we could offer at that point anyway.. 3-4 at the most. While the doctors are fearful those 3-4 foods are no longer safe, I am hopeful that maybe we will gain 5-6 this time instead of losing the little we have.) So back to Norfolk we will be traveling to touch base again soon with our Allergy team.

I broke down in the office Tuesday afternoon. It had been a long week and it was only Tuesday. The appointment took almost 4 hours and Annabelle was overly tired, her anxiety was overwhelming with so many doctors in a room. Our nurse was FANTASTIC with her and then my mom joined us and I asked if she could take Belle away to go play somewhere else for a much needed break for all of us. After Annabelle was out of the room, I broke down. I couldn't hold myself together. The Geneticist asked "What is wrong mom? What is bothering you so much?" I looked up thru mascara run tears, "Don't you get it? I want more than ANYTHING for an answer for that little girl! You don't live at home with her and in fear. That isn't motherhood! I shouldn't be scared of my own child and doubt every ounce of my parenting because I am scared of hurting her somehow. You cannot POSSIBLY imagine the sinking gut feeling I swallow over every single time I walk into her room at night/morning and literally hold my breath until I feel her WARM skin. Do you know what that reality is like? To anticipate your child to be dead laying in her bed as you move about your house. It's raw, it's real, it's nauseating and I HATE every bit of it! I have put that child thru HELL to gather as many pieces of this puzzle together for you and today I was told 'start trying to feed her food, we need to back away from the formula, we're discrediting the original believed diagnosis but we're not going to actively figure out what this is either, we'll see you again in 7 months'. I am on the same page with our plans for the immediate future, I hate them yes, but I am on board - what I have a problem with is the feeling I get that you're not going to help us find an answer for Annabelle and that little girl and our family NEEDS an answer. Where do I go? What am I supposed to do? I AM ONLY A MOMMY! I am NOT a doctor, specialist, nurse or wizard - I am JUST a mom and I've put all my trust into the health system to save my daughters life and you're all turning your cheek. What am I supposed to do???"

What she said next was less than reassuring but did offer a slight bit of comfort. She stepped forward and put her hand on my shoulder as I held my dropped head and watched the tears fall onto my lap. I couldn't look up. I only tried focusing on deep breaths so I could stop crying (I HATE CRYINGGG!!!!) "Mrs. Bishop, I have three patients and now Annabelle makes four; I do not have answers for these children. I cannot find a diagnosis or explanations for cases like these four, no matter how much I have tried. Medicine is never-ending and always changing and evolving. Annabelle may be one of the so very special, but unlucky ones, that is suffering an undiagnosed and not-yet-recognized medical disorder. I cannot name it on a piece of paper but that does not mean we don't want the best for her. We just cannot give you an answer or guidance and for that, as a doctor, I hate just as much as you do. We need to follow the direction you have always led, and that is keeping Annabelle happy as much as we can, and now as 'normal' as we can.

The room was quiet. It was silent until the whispers of the doctors finally wrapped their thoughts quickly and slowly, and excused themselves from our room to further discuss anything else in the hallway (probably how crazy I am). I couldn't lift my head. I didn't have any, and I mean ANY words. I do remember mumbling 'thank you for today..' and that's all I could give from my dropped head. Annabelle's nurse handed me more paper towels/tissues and said, "It's going to be ok Mrs. Ashley, we will do everything we can for Miss Annabelle, we won't let her starve or hurt any longer." I remained numb.

I met my mom outside to collect Annabelle and then made the walk in the bitter cold outside to another hospital office to have even more labs drawn. It took three sticks to get blood and I felt terrible for Belle.. I guess we can't always be lucky for one-and-done easy sticks like we've been having lately. She fought this time, she screamed and begged to stop. Annabelle has been handling needles wonderfully lately until this day. She was done, and in her defense, I know it hurt. She is pretty bruised still and it's been over a week since the labs were drawn. Finally it was time to leave. We headed to Valet to get our car and wait.. and wait and wait for our 'red cahhh (car)!', Independent Annabelle prefers to carry her tubey backpack vs. wearing it these days. I think it keeps weighing her down and knocking her over..

On the car ride home from the hospital, I got a call regarding the sale of our home. The buyers want to move the closing date from Feb. 28th to the following Friday. I accepted and just as I thought we were ahead of the moving game, the rug was pulled from under us. I had been home alone with both girls for almost a month and now we had literally a handful of days to move. With the anticipation of snow coming during the weekend, we had only two days to get it all done. We've done it and that's where we are now. Living with our in-laws with half our things in boxes in our bedroom and the other half of our home in storage. Both girls are tired of moving, AK and I are EXHAUSTED from moving and life still isn't giving us a break or slowing down.

 Annabelle has been struggling with retching (Dry-heaving / trying to vomit but she cannot because her stomach/esophagus is sewn together), and diarrhea - this has been going on daily for almost a full week. The biggest issue is the fine line of her needing tube feeds nearly continuously, but that isn't allowing for any tummy rest. She has times where she is happy and playing, and then she falls and has long periods where she is completely exhausted and pained. The roller coaster we're riding is absolutely unreal.
 
I tucked her in with a heavy heart the other night. When I went to check on her, I immediately recognized her whimpers and moans in her sleep. I swept her soft brown curls to the side and she rolled over, exposing a pillow filled with tears. She continued to cry in her sleep. Dear Lord, can my baby not even have happy dreams of sunshine, rainbows and lollipops? She needs to hurt and suffer in her sleep too?  I am helpless to this little girls needs! She wakes and cries hysterically "Medicine mommy! Please!!!!!" and I have nothing to give her.
On that note: Thank you more than ANYTHING in this world, to all the selfless, loving and amazingly heroic people for your donations of support to Annabelle, because of you, I didn't have to ask Annabelle to wait another week for another prescription that she desperately needs to stay comfortable and without pain (relentless gastritis that just boils in her tummy and leaks out of her gtube site/hole, to also eat around the fresh skin on her stomachs surface), insurance isn't willing to cover the medication until Friday and we ran out last week.. I didn't hesitate or ask the crying child to wait any longer and paid cash for the damn prescription so my child could have some relief. Without you, I would not have had the ability to comfort her for another 3 days. Thank you, Thank you from the bottom of my heart and from Annabelle also, thank you.

Right now we are winging it, one day hour at a time. Yesterday we did get all our lab results back from the the last two weeks lab work. My blood boils when I read the sheets of abnormal labs. All I see across the worksheet is 'Elevated.. Elevated.. Elevated.. Low.. Elevated.. *normal*.. Low.. Low.. Elevated'. It makes your stomach drop when you read a worksheet like that, and then realize "But they don't know what any of it means. It's there. Something is so terribly wrong. And we don't have a damn clue what it means....." so we buy another day on a prayer. Oh hey Bon Jovi!