Today is over, thank god.

My anxiety was justified - and the pain was just as bad as I prayed it wouldn't be. I hate today. Thank God today is over.

We chose to change the tube size of Annabelle's tubey. We went a grade smaller in diameter to make the actual hole smaller - but we went up a size for the length of the actual tube so that it isn't quite as tight to her skin as the original tube was.

The nurse made me change the tube myself, I didn't expect that. It wasn't difficult and I'm glad I did. This is something I will have to do myself at home, every 2-3 months from now so I'm glad I was able to do it all with my own hands instead of watching. I just wasn't prepared to have to do it. Easy enough though :)

After the tube change came the moment I have been dreading terribly. Annabelle held off longer than I thought she would, but at last the pain hit her and that was all she wrote. I expected it to only take a few seconds and we would be done.. that was furthest from the truth. Once the sweet nurse began burning the tissue, it began to break apart and burst.. my sweet baby's tummy was covered in blood, burning tissue and smoke. The tissue started dissolving, the bleeding got worse before it got better and the screaming finally landed her silent, practically in shock. As soon as it was over - we had to continue holding her down to clean the entire area, wrap it up and secure the placement. Annabelle alternated between returning to a scream for help, and retching (vomiting, but she's unable to fully vomit because of her stomach/esophagus surgery). Thank God it's over. That's all I can say for today.

Back in the swing of appointments galore

We have more game plans in place, finally. I have some backup plans on top of scheduled plans on the books. I was furious after our appt. Monday. By Tuesday, I was motivated and unstoppable to making headway and leaving everyone else in our dust. Belle is doing 'ok', I've begun removing food away from her again and she's showing improvement. We've been allowing a very few veggies and fruits that don't contain protein or citric acids.. I thought they were safe, and they should have been, but something wasn't right. I began removing them one by one to where she isn't taking much at all by mouth any longer. Within a few days, she began to look a lot less lethargic. Her energy is coming back, very very slowly. She still has a low threshold with how much she can do at a time. Running around the house for 2-3min and then climbing the stairs will kick her butt to where she's forced to rest for an hour or more. This is common with Annabelle when she isn't well though - were just giving her some space and time and following her lead without looking into it too deeply.

What's on our agenda: 
Friday - Today we are meeting with the surgeon. Annabelle's gtube site has begun to form Hypergranulation Tissue pouring out of the stoma (hole). We need to have it removed and treated. My stomach is absolutely in pieces knowing what they are going to do to her. Im nauseated at just the thought :( While we are there, we will also be changing her tube out for a new tube. I am so excited to replace this tube- it's so gross within the insides and it's components. Belle gets 2-3 baths x day but it just always seems filthy to me (OCD Mommy, I am). I am looking forward to the new tube.

Monday - Gastroenterology Consult
Tuesday - Genetics Consult


Hopefully we will gain movement after the next days appointments. If not, I have a couple more things up my sleeve. I'll keep you posted :)

Annabelle is healthy as a horse, didn't you know?

I'm almost too frustrated and heartbroken to post.. I'm too baffled by our appointment yesterday to type the words that I cannot believe were even spoken. But here goes.

The Short & Sweet.

Annabelle slept until the moment I woke her to dress and leave the house in our hurry. We dropped Mady off at school and after a quick stop at Wawa so I could make my coffee - myself, belle and our nurse were on the road. Annabelle didn't last long at all and fell right back asleep. She slept again until we arrived in the parking deck of the hospital. I could tell she wasn't doing well, as could our nurse. We packed the stroller with so much stuff it was embarrassing. I was prepared for a big meeting, I was prepared to have every single test / lab result etc he could possibly want. I wanted to make this appointment as easy and as efficient as possible.

When the doctor came in to see us, first impression: He seems very personable. Excellent with children, nice smile and recognized Annabelle right away via phone conversations he's been having with the rest of our team.

After the first impression was over, it went downhill.. and quickly.
He pointed to Annabelle who at this time was out of her stroller finally and sitting with her nurse playing with a toy while I devoted my full attention to him, he smiled at me and said 'Look at her, she's healthy, children with OTC are sick. She isn't sick.." and then he chuckled while fingering thru his small pile of paperwork. I was scratching my head. He looked back at me and lifted his hand to say "I don't mean that to sound harsh mom, but you do NOT want your child to have OTC or MSUD and she looks ok to me! This is a good thing". I exhaled and responded with a smile, "Oh no, I am not offended at all! If you tell me Annabelle does NOT have OTC or a UCD, than I am the happiest mommy on this planet. I just need you to explain to me how you drew that conclusion when we have everything else supporting that diagnosis. It was my impression that is why we are here, to see you today, after your discussions with Annabelle's doctor in Richmond."
He focused heavily on Annabelle's diet. Her diet is NOT nutritionally complete, it lacks Branch Chain Amnio Acids, it's extremely limited in protein and it's not adequate for her brain and overall development. We know this. Her diet is another part of the reason we need a diagnosis so we CAN give her a nutritionally complete diet soon.

He stuck on the diagnosis of Maple Syrup Urine Disease (MSUD) and kept mentioning that he doesn't believe she has that. I corrected him every time. MSUD has NEVER been a consideration, we also don't believe that is the problem, it just happens that the treatment for MSUD is also the treatment we are piecing together for Annabelle right now, and it's working.

It was then that I decided I needed to pull out the book o' lab records and hospitalizations.. and most importantly, a 4-page summarized letter written by Dr. Young that highlights Annabelle and why we were there. He stopped for a moment to reiterate again that he has no doubts Annabelle is well and does not have any of the diagnosis we are treating for. (that are working.. half way). As he explained this to me and I referenced the abnormal labs, he told me "Labs that report back abnormal can mean a variety of things. The draw could have been difficult. Belle could have been sick at the time. There could have been issues at the lab. A variety of errors happen with lab collections. So instead of focusing on abnormal results, what I like to see is a pattern of areas that continuously report back abnormal and go from there." I smiled. I nodded my head and smiled with my hands folded in my lap. I knew what he was going to see.... he was going to see a binder and mile high piled with lab records - all with the exact same pattern that isn't changing.. it's only becoming more present. After he scanned thru.. he then readjusted his reading glasses and began turning pages a bit more slowly, he closed the book and put his hands down. He then said this: "I think Annabelle has allergies."

Yes. That is what he said. I thought my nurses head would spin off her shoulders. I smiled. "Im sorry doctor, come again?" He repeated "I think Annabelle is just a child with really bad allergies and maybe when you changed her diet, we fixed everything?" I cannot tell you the list of reasons this explanation is 150% invalid, not to mention we have seen 3 allergies, 2 second opinions and 3 GI doctors that have all assured me this is NOT an allergy nor GI problem - this is deeper and bigger. We have the labs all supporting some type of Inborn Error of Metabolism, specifically now for OTC - and he is trying his hardest to convince me that his hospital has a better Allergy & Asthma department than the ones I've worked with prior and that should be our next move. I was speechless.

I challenged him.
I absolutely hate challenging doctors, and I've learned that speaking up and questioning their decision is a fine line and a sure-quick way to burn yourself, but I don't have time to play by rules and take everything people tell me for the truth any longer. I repeated these statements until he gave me something that told me he was 'listening'!
"While Annabelle was on Elecare ONLY for almost 6 months, she spiraled downhill. Annabelle was digging her own grave and moving at a steady decline. She continued to develop more and more issues, seizures, vomiting, pain, temperatures from 93 - 105, extremely lethargic, extreme agitation, loss of consciousness often, inability for walk for days, very little balance and control, extremely developmentally delayed, she had BMs every 10-14 days, her hair didn't grow, her nails didn't grow, she didn't speak and barely communicated, she had vaginal bleeding for 4 days. It wasn't until we changed her diet to this cocktail that removes branch chain amnio acids and protein that we saw a change. Beginning the transition, Annabelle went into shock only hours after ending a tube feed of Elecare. Within 24hrs she showed dramatic improvement while on this new formula. It was like a miracle. The miracle didn't last long though.. while she is 90% better in all the respects that Annabelle is now walking, growing, speaking for the first time, her hair and nails grow, she has a BM daily, I haven't seen any temperatures, bleeding or seizures - she appears so much better! But she is also like a roller coaster and riding waves of normal behavior and extreme abnormal behavior that leads us to the hospital for assistance bringing her blood/ammonia levels back within a normal range. I respect the opinion that Annabelle may not have the UCDs we have suspected, but I still need help getting answers for my little girl. If she doesn't have OTC / UCD, then what other type of diagnosis would explain her pattern that she demonstrated while on Elecare and then the abrupt positive change while on this new formula, and again, the constant pattern of waves that land her with high ammonia levels without any changes in her diet?"
I asked and repeated myself over and over. I wasn't trying to be a pain, I was simply asking him for another perspective that maybe we weren't considering. Every time we find ourselves down a dead end with a doctor, I always take a step back and try to determine if we've gotten tunnel vision on a single diagnosis and maybe we need to look a little broader at the big picture again.. but not this time. This time we have geared in to the most plausible explanation and we (unfortunately) have every lab test we can draw to support the diagnosis. It's in black and while on a piece of paper.. I begged him to look again and give me something to work with. Because I cannot go back home and tuck my daughter in bed thinking she just has allergies. That isn't what is going on here.. I promise. I explored that road for 5 months trying to make 'allergies' the culprit and I just can't. We need help from someone else, please let that be you.


He wants to repeat Annabelle's labs, in HIS setting and HIS hospital and HIS lab. He wants to document how the collection is conducted and see what her levels look like right now, in comparison to what they've been looking like at home. He has never met Annabelle before today and therefore he doesn't feel comfortable giving a diagnosis to a child he hasn't actually witnessed have any hyperammonia episodes. I'll be damned if I would allow anyone to initiate any episodes purely so someone else can witness them for themselves though! The last time Annabelle crashed, it took less than 5 hours - we're playing with fire at this point and under any circumstances can I let her life be put at risk to prove a point. If/when we hit that crisis circumstance again, we also will not have enough time to deliver Annabelle all the way to their hospital just so they can witness the situation. I absolutely hate the scenario we are in right now. HATE it.

So we did labs. We collected urine, which was a lot NOT like fun. And they drew blood. He repeated all the exact same labs we have already done in the past, and nothing additional.. I was so frustrated.

Annabelle did amazing for the blood draw though. She flinched when they stuck the needle but never once moved or tried to pull away. She just cried and watched me with the most pitiful teary eyes, but she never moved. She laid still and continued telling me "Mama, home, please. Bye Bye mommy, home" It didn't take long to finish everything we needed and we were finally back in the car and on our way home.


I called Dr. Young and our conversation was ...... well, we were both terribly frustrated. We're stuck between such a hard place of wanting and actively doing everything we can to keep Annabelle well, and doctors only seem to want to help if she looks like she is laying on deaths door. The sad part though, is we have been hospitalized while she is on deaths door and we weren't gaining enough while there either. I cannot put my daughter at risk to gain the attention from a doctor to get her help. I work my butt off on a daily basis to ensure she is being cared for, loved, happy and as normal as I can possibly keep her, every single day. I do not and will not take an ounce of happiness or remove a single smile from her face if I don't have to. I just need someone to care. I need someone to look at Annabelle for such a beautiful child that is so broken inside, and then look at the stacks upon stacks of records that ALL indicate something is not right, and I need someone to figure out the puzzle for me. I cannot do it on my own. As much as I can possibly try, and believe me, I devout every minute into trying to finding explanations for it - I can't. I'm just the crazy desperate mother exhausting herself doing all this work without a voice. I need help. I need someone to WANT to help this little girl. My God, she's SO amazing!! If you meet her, you will know without a doubt just how strong, wonderful, full of life and promise she is. But then if you pick her up and go for a short walk, you will see just how sick this child is. Spend 24 hours in my house, please, and you'll never sleep peacefully again after watching an innocent 2yo struggle just to survive another day. And then after 24hr, listen to someone tell you that she is fine, beautiful and probably just has allergies.

Our bags are packed, our prayers are strong but our faith in healthcare is diminished..

Annabelle did it! She made it thru the weekend safely (knock on wood), and were a 'go' for tomorrow's big appointment! After a week of little sleep / rest, lots of agitation, an appetite that moves from one spectrum to the other, BMs 10+ x day and then other days she has 0 BMs for several days.. the restlessness and most unfortunately, the INTENSE emotional roller coaster this whole ordeal keeps her on. Somewhere right in the middle of them all, there is a balance of what a normal 2yo looks like and how they behave. Those moments we grasp and embrace - all the others, we hold our breath and watch the calendar for January 27th. We need tomorrow more than anything, I have held my breath for nearly two weeks watching Annabelle finally collapse and she's made it.

Today though, it's coming. 
The downhill spiral fall is finally here and were riding it out. I think we have enough time to make it to our appointment tomorrow vs another hospitalization, and hopefully they will be able to gauge more by seeing her in a crisis state vs. healthy semi-normal 2yo on a great day.


Annabelle isn't running or moving much any more. She's finally hit her wall and she's starting to fall quite rapidly. She isn't sleeping much, and I hesitate to even say she's 'resting', but she is holding on and for that we are grateful. Only a few more hours baby girl, you can do it..

AK leaves us early-early in the morning to head out of town again, so I will be keeping him updated via Skype / Texting. I know it kills him more than anyone else to not be able to attend all our appointments. Our nurse will be at our house by 6am and we'll begin the day by dropping Mady off at school bright and early and hitting the road.

We have no clue what to expect quite yet. We have lots and lots and LOTS of wishes and answers to gain from tomorrow, but experience has ruined that hope for me. I hate this state that I am in right now. I want so badly to eagerly anticipate tomorrow's good news and promised hope; for a doctor that wants to help and cares, for an experienced physician to see Annabelle for the strong but broken little girl she is and desperately do what they need to help her. I've worn those hopes and prayers on my sleeve too many times (every single time) to believe tomorrow will actually go in our favor. The medical world has absolutely ruined all my faith in humanity and 'Health CARE' - ha, a darn joke it is. I used to believe doctors and medical staff went thru Med School to HELP other people, but I've come to learn that in order to succeed in the business, you must first drop your soul at the door and keep your nose in a black and white textbook to fit each patient into only a diagnosis written and one you're familiar with. We need a doctor that is willing to see Annabelle for a sick little girl, read and recognize every single lab, sign, symptom, medical experience that explains the Working Diagnosis we believe Annabelle to have. We have collected 99% of the information we need to secure this diagnosis, we just need a doctor to agree and sign on it so we can move onto treatment. I am traveling with more medical records, documented journal entries by an array of her care providers, hospital notes (the freaking jokes half of them are), every single result of blood work ever run, videos, written summaries by physicians, assessments by therapists summarizing her congnitive / developmental delays etc. There are 6 books total of Annabelle's records that never collect dust in our home. Everything is traveling with us tomorrow. We are out of time to play games and plea - it's time to see black and white and help this poor child.
This beautiful, amazingly incredible daughter of mine.

Transplant Considerations: 

With luck, Annabelle is likely still a candidate for a Partial, Living Donor Liver Transplant. We will remove and replace the portion of Annabelle's liver that is poisoning/killing her, cross our fingers and pray everything takes and watch this child LIVE! Of course this comes with the flood of prayers for a positive match for a generous donor that is willing to help save this little girl.

The longer Annabelle struggles with this disorder and her body continues to poison itself with ammonia, the more damage she will continue to do to her liver.. within time the damage can (slowly or quickly.. we have no way of gauging) ruin the entire liver and eliminate the opportunity for only a partial transplant. She will then move to a list and begin our wait for a full liver transplant from a donor. Obviously this option comes with an incredible wait list and much less hope.

*Silver Lining* If / when sweet Annabelle receives a new liver and if/when everything takes and she accepts and heals safely, Annabelle will be able to live a long, happy, normal life. The food restrictions (beside allergies), the 20hr tube feeds, the constant medical care, the dialysis (this is likely our next care plan), the array of nauseating medications, the face mask while in public places, the lethargy, the 'highs', the pointing / staring / curious strangers, the sleepless nights, the pain, ohhh the pain, all of it will be gone. Annabelle has the potential to live a wonderful, healthy, NORMAL life. We just need to get there. We need a treatment plan. We cannot move towards a treatment plan without the formal diagnosis authorized by a bio-chemical geneticist.

Tomorrow we are seeing the geneticist we pray will help us achieve that diagnosis. My prayers are unending but my heart aches at the anticipation of what tomorrow could look like for us.

God please, if you can hear me and everyone else calling your name this evening, please please Father, wrap Annabelle in your arms and deliver the knowledge and compassion to the medical team we meet tomorrow. Please, give them the understanding to see our plea for help. Restore our faith in this health system and for the wonderful doctors practicing medicine and doing your work out there, send them our way. Place Annabelle in front of their eyes and let them help us. We need help, we need our prayers answered and we are trusting in you for the guidance. Annabelle has such an amazing purpose in this life, I know she does, but I also know it will be delivered in this life as she grows into a beautiful young woman living the life we know she deserves. Heavenly Father, hear our prayers and grant Annabelle the comfort she deserves.. and if we have any wishes left, if you could grant me a little more trust and understanding thru in this nightmare, we could really use that too. Amen.

Always an adventure

Just how long can someone how their breath? I think we're figuring it out!

Annabelle is moving rapidly from giving us a heart attack, to acting as normal as an everyday toddler, daily. Without a doubt, something is very off but we are holding our breath to make it to next week without any 'excitement' (embrace the sarcasm).

Her blood pressure is beginning to balance, thank goodness. She has not regained the weight she's lost, but her appetite picked up in the beginning of the week. Tuesday she had 14 BMs in one day. I handled a series of medical documents to sign all day, faxed a few hospitals and was contacted by our next hospital for more information on Annabelle before our visit. The phone calls were exhausting but the staff seem sincere and eager to help - I hope that's the case. I am looking forward to our appointment for so many sad reasons. Annabelle just needs the right answers, written on paper so we can move forward. Im ready to react and move - I am tired of waiting and watching.

That evening I got home to two beautiful, energetic little girls that wouldn't let me have more than a foot radius of my own space. Dinner needed to be made so I gave them both a task in an effort to making ziti and utilized their desire to smoother me and put their little hands to good use! They did an excellent job. Mady and Belle both LOVE to cook. They made the biggest mess around my kitchen but they enjoyed themselves.

When I made everyone's plates however, it was a different story - Belle is now growing smarter and smarter and associated the casserole of ziti she just baked with her own little project and was NOT happy that she couldn't eat it for herself. Dinner is becoming a bigger issue around our house. Any meal is becoming difficult. Annabelle wants food, she loves food, she wants to be included in what the rest of the house is doing and her two-year-old attitude shows when she is excluded. It's more than heartbreaking. She threw a fit and cried her little eyes out at the dinner table Tuesday night. My heart crumbled. She refused to leave the dinner table. She had no interest in going upstairs for the distraction while Mady ate. She didn't want to watch mouse or play, she wanted to sit at the table and she wanted to eat ziti. SHE SHOULD BE ABLE TO SIT AT THE TABLE AND EAT ZITI!!! :( I hate this, I hate this, I hate this for her so much.

The method of distraction that finally worked: I caved and pulled out all the girls snow gear and decided to make a date with the moonlit yard and first snowfall of 2014. This was Annabelle's first real experience playing in the snow. She was too sick last year to go outside, we never even showed it to her. This year she had a wonderful time. While daddy participated in the fun via Skype, Mady and Belle both played for quite a while (until I couldn't take the cold any longer) and then we all came inside for a warm bath and cozy jammies.

Wednesday she will no longer eat. Today her appetite is minimal and she's beginning to appear lethargic. The energy high has left us and we are bracing for what is next.

Last night was the last of the energy high (medical term: agitation). She wouldn't sit still. She wouldn't rest or stop running and yelling. I put her to bed and she stayed awake in her room for hours. I brought her back downstairs and you could tell her little body was just so tired. After stories and extra snuggles back in bed from Auntie-Andi (who is staying with us while AK travels out of town for the next 3wks), she fell asleep. I laid in bed and watched the ceiling, I just knew something wasn't right. One of the worst things that comes along with this hell-ride we are on, is insomnia. I cannot sleep. Even when I have the time allowance to take a nap, I cannot rest. I cannot turn my brain off and stop thinking, fearing, wishing, contemplating, deciding, dreaming etc. Nor do I want to turn my brain off. It's my brain and heart that tells me first when something isn't right and I wouldn't want to miss it when that sign is there. Last night I laid in bed and knew something was off.. I waited and waited, finally a little after midnight Belle woke up crying - she was in so much pain, extremely irritable, agitated, shaking like a leaf and had tears POURING off her little face. I changed her diaper and tried tucking her back in and it wasn't going to happen. We laid down on the couch together until Andi joined us and we all agreed it was due time to watch some Special Agent Oso (cartoons) to carry us until 3am when she seemed to calm down and get comfortable enough to fall back asleep. Needless to say the night was loooong, it ended without gaining much if any rest / sleep and today were exhausted, but my adrenaline is pushing me forward. Something is still 'off'. I have texted the nurse repeatedly today asking for an update on Annabelle and she continues to confirm the same over and over "She's really tired, she's laying in your bed and napping.."

When I got home from work, Annabelle was acting normal but also very emotional and clingy. After I gave her another bath (bc her BMs are absolutely non-stop), she was upstairs playing in only a diaper. Madelynne ran downstairs in a panic that something was wrong with Belle's tubie, when I checked it out there was blood smeared all over her stomach and diaper. I changed her as quickly as I could and wiped everything clean but the blood is still slowly draining. I have no idea where this bleeding has come from. My best guess is that she may have hit her tummy on something upstairs while the button was unprotected. Poor little girl. I hope the bleeding will slow down, at this point it's a steady rate but not too heavy that I am terribly alarmed - I am changing her dressing about every 20-30m and it appears to be slowing a bit. Fingers crossed it does, because I truly do not have the energy to sit in a hospital this evening.. that is the LAST place we need to be!!

Calm before the storm

We are watching Annabelle closely right now. We are beyond thrilled to have an appointment scheduled for the immediate future, but so worried that 'immediate future' just isn't soon enough. We are praying and holding our breath as we watch her begin showing signs approaching another episode of hyperammonemia. Her ammonia levels are rising and we have no choice but to watch it happen.. .. and wait. We're waiting for the moment of crisis where we react, we're praying the damage again is minimal and her sweet little systems and brain are unharmed during the 'storm'. 

Annabelle has recently begun changing the presentation of her rising ammonia levels. Her body used to remain extremely lethargic, unable to walk, stand, or even stay awake for long periods of time. Her little body now demonstrates hyperammonia by 'agitation'. She appears to be on a high. It's terrifying to watch.. I would even say it's beginning to become more difficult to watch this reaction vs the lethargy. I don't know the little girl that is spastic, running in circles or figure eights around our home. The child that will willingly crawl in your lap to play and jump, but then melt down screaming in the floor within an instant for no reason. At first I embraced this change in behavior. It was the first time I really began to see my little girl smile, laugh and 'play'. But learning what is happening, recognizing why she acts the way she does during these times.. and realizing within seconds, hours or days she will slip into a coma or become unable to wake - there is no giggle or smile that is welcomed when it's followed by that behavior. A laugh and Ring-Around-The-Rosy game that ends with the potential of losing my daughter is no longer fun. The laughter become a noise worse than fingernails on a chalkboard. This illness is ruining every ounce of happiness in our home. Our little girl is fighting with everything she has and our family is searching for every cherished moment and memory but somehow, it always becomes fogged with the dark cloud that remains over our family. I hate this. I HATE THIS FOR OUR FAMILY! 

So right now we watch. We're waiting to react. We're praying we are able to scoop Annabelle and deliver her to hospital safety when the time comes. We wait. We hurry up and wait.

I absolutely hate waiting.

Some of our dearest friends live in Florida; we have dinner and 'skype party' with them and their two little girls often. All the girls love seeing one another between our yearly vacations together and all us adults enjoy sharing a meal and glass of wine via technology & 600 miles away.  

We love you Matt & Kristy! 

During this time... we don't sleep. How could we? How can you rest and count sheep when your little girl could be in the next room slipping away from you? 

9 Days ago Annabelle's decline began. It started with a rising heart rate & blood pressure. We keep an eye on her vitals daily and log everything. Each day its continued to climb. Her normal blood pressure should remain in the 90/60s and her's is hovering around 140-150/90s. I generally only see her blood pressure rise this high when she is in an extreme amount of pain. Her gtube site is still bothering her, but not nearly to the point I would consider it 'extreme pain', I would call it 'very sore/uncomfortable/sensitive'.   

She's lost over 3 pounds in the last week and is moving all her food quickly thru her GI system - she's having several BMs x day that contain whatever she's eaten in its whole form.  

Her energy is spiraling out of control, but reached a plateau by the weekend. 

Today, both AK and myself were off work and wanted to take the time to enjoy outdoors while it wasn't too chilly and before the snow arrives. We took the girls to the local park and Annabelle had a wonderful time. She out-climbed Mady on the jungle gym until she spyed the swings, her favorite! Both girls enjoyed playing, but within 10min of being at the park, Annabelle began heading downhill. She usually enjoys being pushed on the swings for ENTIRELY too long, but today she asked to get down. When I put her on the ground she stumbled. My heart skipped a beat and I cautiously smiled at my little girl. The other parents judging as I helped my daughter and her backpack, holding all her tube feeding supplies, walk the 6 steps to the next toy. She fell. My heart started to beat faster and my smiled disappeared. As I helped Belle onto the toy she wanted to ride, my eyes started scanning for AK and Mady on the other side of the playground. I panicked when I couldn't find him. Again, she was quickly uninterested and wanted to get off. She wanted to be held when I noticed her little arms were shaking.. I picked her up quickly to prepare for a seizure. The moment I got her into my arms she screamed to get down. She fell twice and couldn't stand. I scooped her up and started walking, AK was directly in front of me and knew something wasn't ok. I told him we needed to go. He collected Mady and we loaded the van in a casual manner without anyone ever able to grasp a hint that AK and I were both having full parenting panic attacks. I carried Annabelle with her head lifeless on my shoulder & AK raced Mady to the car while playing tag and I cheered Madelynne on. We were silent on the car ride home and both watching Belle like a hawk in the rear-mirror. . . . It's starting. 

Annabelle is home and resting, she will not sleep, though she will not run around either. She is quite monotone since this morning at the park. Her feeds are going well. Her appetite is the same, though not nutritionally important, she just enjoys eating foods. Her gtube site started to look much worse at the end of last week but by yesterday and today, I have hope we may be able to to avoid the surgeons office soon. I am praying my hardest to not have to pay them a visit.. I just know it will be ugly. 

For now, we hold our breath. AK leaves early tomorrow morning to go out of town so the girls are helping him pack. I'm taking advantage of being as lazy as I can while I still have the extra hands!

Stay tuned. 

Moving Geneticists & Infected Gtube Site

To make the longest, longest, most frustrating story short:

Lots of phone calls were made yesterday between doctors and genetics, we are moving Annabelle & her care to a Bio Chemical Geneticist that is not local but has been involved and is very familiar with the OTC-D Disease. I will be spending my next several days/week to collect all the information we need to travel. Our appt is scheduled for us to arrive at the hospital Monday, January 27 at 9:00am and go from there.

This is a huge step in Annabelle's care. Finding the right doctor.. SPECIALIST that studies, is knowledgeable and confident in her diagnosis and treatment plan is what our little girl demands and deserves at this point. I have no idea what tests or procedures will be performed at that time.

I also finally got hold of the surgeons office and forwarded several pics/video of Annabelle's G-tube site. Because of the duration, drainage and spreading ulcers/sores around her site and tummy; they concluded she likely has either Staph or Strep surrounding the stoma. We're moving to a different treatment plan and medications and hopefully it will be better soon. Annabelle doesn't seem bothered 'too' much by it. You can definitely tell it is tender and sore. She guards it often but not as bad as she was weeks ago. The only time she truly complains are when we need to hook her up for feedings (every hour and a half). We are giving her several baths showers a day and cleaning the site CONSTANTLY from all the drainage. It stays crusty and yucky all over her stomach and the dried drainage then bleeds like crazy if you wait too long to clean it off. Gross kid.

Here is a video of her site after a long bath and scrubbing. It looks very, VERY good in my opinion, it's clean and mostly dry. But you can still see the sores and redness.

& here is our sweet girl the night before last. Each evening I walk in the door and am greeted by this beautiful little fighter. Some days she is bouncing around and ecstatic to see me and other days she is laying on her back and struggles to even turn her head in my direction. The best thing in the world is being able to drop my things from the work day, kick off my shoes and just crawl in the floor to play or curl next to her to snuggle. Daddy arrives home shortly later, usually right before 6p and the night really begins with loudness, stories, laughter and the marathon to 7:30p bedtime!

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.

Grace

Since the moment I learned I was carrying another little baby, I knew if it were a girl, her name would be Annabelle. Our spontaneous sweetheart arrived 7 weeks early and we still didn't have a middle name! I thought I still had time to decide! 

Tonight while packing the first boxes for our move out of our home, I found the piece of paper I carried around for months, it was the list of middle names I was considering to accompany Annabelle. 

Annabelle:

-Clair

-Jayden

-Reese

-Skye

Day 2 of watching our fighter in the NICU I had one simple thought "this experience together will not define our journey we are beginning sweetheart, it will be the grace of how we move out of this hospital one day and one hour at a time that defines who you are. Grace... grace, yes, that's it. She smirked. And it stuck. 

http://youtu.be/If092sbMsAI

Our Annabelle Grace is absolutely mesmerizing how she moves around this unfair life, but with such grace. I'm glad she named herself, it happened for a reason. 

Last weeks appointment with the surgeon didn't go as well as we had hoped, but it was productive. 

Annabelle's gastritis in her tummy is so active and out of control that it's begun to move and ooze out of her stoma (the hole the gtube is in). There are ulcers that drain, bleed and are spreading around her tummy. I was told by the nurse that if we were to change her tube out then (as planned), the pain would be entirely too much for Belle to withstand and we needed to control the gastritis first. I agreed. I wasn't in a rush to replace the tube with a new one.. Not if it meant an ounce of pain to Annabelle. 

We're using a new medication to help her site heal. We clean it 24/7, it bleeds and drains constantly and requires maintenance around the clock. The medication just isn't working as soon as I hoped :( I've watched it all weekend and it's only getting worse. Everything inside me wants to avoid the surgeons office because I know what they will do, but I also know something isn't right at all with this outbreak. We've changed her acid blocker for her tummy, it's supossed to work better than the last but at this point I'm wondering if it's working at all. Fingers crossed it begins to get much better very very soon!! 

We are in contact with Genetics currently and working on a game plan towards moving further, I will learn more tomorrow and update and explain then. 

Overall, Annabelle is doing well right now. She's so very happy, playing, napping and talking up a storm :) she made me so frustrates the other morning that I had to laugh and looked at her "WHO ARE YOU?!", without missing a beat, she barked back "me! Annabelle! Bishop!" And she kept playing... Oh she's so mine.

she is beginning to look very very pale again and if she runs or moves too quickly, she begins to choke and cough until she is nearly sick (the nissen prevents her from vomiting thank goodness so she never fully vomits!). Her energy just takes a long time to come back after she's been down, although this time it still hasn't returned. She's sick if she moves too much and I don't expect it's going to get better .. Not anytime soon .. .. .. 

 She is starting to get an appetite back and we are offering a few foods that are safe and she is enjoying them again! I am so happy she has an interest in food! She still struggles often to chew/swallow but she is at least interested. 

I am praying it's an easy, slow week for our Annabelle this week. We anticipate a few test results coming in, so our nerves are shot.. The waiting game is the worst. As a family, we're packing things around the house slowing and enjoying more cuddle time and books, puzzles and coloring than ever. We like these slow times. We enjoy the quiet, warm cuddles on the couch way more often than we should. We cherish the ability to all be home as a family. It's "normal", and geez it feels so good to get a taste of normal every once in a while!