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.