We've made it.

We made it. I cannot believe it, but I can finally post those words. This month has been the hardest several weeks our family has ever struggled to survive. It's been so much harder than I can ever share over a cup of coffee, it's 55x harder than Facebook has witnessed. I can confidently say it's a million times harder than even our closest friends and family that have been next to us could believe. I guess when you run a marathon, the hardest, most exhausting time is the very end when you have to push thru with all your might even when everything feels like it is pleading for you to just stop. I've never run a marathon, but if it were anything like what we have just survived, I am not interested in ever doing it again! .. pass the Milano cookies and I will cheer you on from my couch every step of the way.

Annabelle is a survivor. I could write for hours and hours about how strong she is and how much she has amazed me over the last month, but I trust you believe and know that all by now. If you have ever met her, without a doubt you have witnessed her strength and amazing attitude (or just attitude.. not so amazing, but definitely opinionated and passionate about how she feels! ;)



Almost exactly 4 weeks ago, my doctor and I were working as hard and as fast as we could to find answers for Annabelle. We knew after the appointment at Johns Hopkins, that if we were ever to want to find another doctor, that we need more to stand on. We needed to find a specialist that will have concrete proof Annabelle IS their case to solve, everyone just wants to pass her away. We just didn't know where to start. We spent all weekend searching, I spent all weekend sulking and our pediatrician exhausted herself in every Genetics textbook that the bookstore would sell her. Monday morning, September 14th at 4:00am Annabelle received her very last feed of Elecare. My doctor called me and said with a shaking voice, "Ashley, I need you to answer me a series of questions, are you ready?" I did and she went silent over the phone.. I didn't know whether our conversation were a good thing or bad, I only knew that Dr. Young had stumbled upon something and she was struggling to speak the words. She couldn't believe what she found, nor could I.

Malonic Aciduria  
A condition that prevents the body from converting certain fats to energy. The full body's system is deprived of the energy cells need to survive. This manifests into nearly every system in the body slowly shutting down. 
Annabelle was being fed amnio acids & protein that her body cannot properly break down because of this disease. Elecare, that I have been feeding her since she was 5 weeks old, was essentially poisoning her. We had unknowingly, been poisoning Annabelle her entire life.

The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. 

• Weak muscle tone (hypotonia)
• Seizures
• Diarrhea
• Vomiting
• Low blood sugar (hypoglycemia)
• Cardiomyopathy, a heart condition which weakens and enlarges the heart muscle (This was diagnosed without explanation while we were in CHKD placing Annabelle's NG Tube)

 This condition is very rare; fewer than 20 cases have been reported, nearly all have been fatal.

She began talking very fast about what she's learned and what she believes is literally killing Annabelle. Dr. Young demanded I stop feeding her immediately and begin flushing her little system with Pedialyte while she found help in the medical world. Within hours, Annabelle went into shock. The first attempt at taking her temperature was under her arm, I didn't wait for the thermometer to beep before reading it and throwing her into the tub of luke warm water. Within an hour it spiked to nearly 105 and we spent days to bring it under control without luck. She broke all the blood vessels in her little face.

The next phase was extreme pain, with a dose of fatigue. It was excruciating to parent her while watching her continue to fight when everything in her body was failing her, rapidly. The day after she went into shock, we headed to the office for a series of labs that were requested by Genetics to confirm Dr. Young's hypothesis. We also ran labs to determine the level of damage that was being done from Elecare withdraws. After 5 sticks to get blood, we barely had enough to test and I took Annabelle home. She was depleted of every ounce of energy she had. I snuggled her back into her soft warm bed and laid beside her just watching.. watching her literally struggle to breathe, gasp, moan in her sleep. I laid beside her with a broken heart as I watched my daughter drop tears while she was in dreamland. I was crushed.. I was worried beyond belief and I was so, so scared. Of all the tests and procedures we have conquered with Annabelle, never was I as scared as this week. It was genuine fear and there was nothing myself or doctors could do to help us.

Day 3 Annabelle entered Pediatric Metabolic Acidosis - shock and multiple organ failure from withdraws of the amino acids. All her labs reported her systems were struggling and had begun shutting down. At this time we were working with a team of doctors around the country. Everyone was struggling to figure out what to feed Annabelle, however we couldn't find anything safe! Two hospitals were searching for a safe TPN option, every hospital and GI was searching for a safe eternal fed option, and no one was able to produce anything safe. We were between the worst imaginable Rock & A Hard Place.

1. We could begin feedings again of Elecare, which was essentially poison and may have detrimental affects from going thru withdraws and then re-administering the 'poison' ,OR 
2. We could continue to watch her starve and her little body shut down.

I had a standing Admittance Order to take Annabelle to the Peds ICU at MCV but I refused. I absolutely refused. Under any circumstances would I have put Annabelle in jeopardy from my own personal feelings about a hospital, but when I asked "What is MCVs plan? What can they do for Annabelle there that I cannot do here? Can they feed her something safe? Can they save her?" the answer, "Nothing. They will give her fluids just the same as you're doing and they'll monitor her. They don't have formula or anything to give Annabelle either.." If that was the consensus than I wasn't going. If I walked thru the doors of MCV with my daughter, I stood the highest chance in the world of getting arrested, and I would be damned if anyone separates my baby from me during this time - I would have EARNED those handcuffs! I promised Dr. Young and our team that the moment I felt that I couldn't handle Annabelle and home and I needed help, that I would bring her to the hospital, but until that time - she's staying home with me. In her own bed. No germs. No monitors. No nurses, strangers, anxiety, hospitals, IVs, nothing. Just mommy, daddy, sissy and Lambie. End of story - this is where she will stay.

Day 4 we found a formula. It's called BCAD1. The mission was trying to FIND this formula. It was quickly determined that we couldn't find it anywhere in the state of VA. As I watched Annabelle slip away, she drifted off to sleep and wouldn't wake up any longer. I kissed her repeatedly, over and over and over.. I couldn't stop telling her how much I loved her and how proud of her I was for fighting. I called Dr. Young when she finally fell asleep without waking up, she knew this call would be arriving soon. I couldn't really use words when I spoke to her.. I didn't know what to say, and she also didn't have much direction. Our instructions at this point were to wait for the formula to arrive.. waiting was excruciating. She asked that I bring Annabelle to her office for another round of labs to be drawn, we wanted another count to have a insight on how her organs were functioning... or not. Annabelle at this time hadn't had a BM in almost two weeks. She was being fed clear fluids at 150ml x hour via pump but hadn't had a wet diaper in over 36hours. Her kidney's were no longer working, her liver wasn't filtering anything any longer and her GI system finally moved from snail-speed-slow, to a complete halt. When I arrived at the office with a limp Annabelle, Dr. Young cleared her throat many many times when trying to explain to me what she's learned and where they were with all the other doctors (Children's Hospital of Phileldelphia, St. Jude's, Duke, etc.) she struggled to not cry and I struggled to maintain my composure. I looked like crap, I hadn't slept in days, I wore a baseball cap with no makeup and yoga pants and I refused to put down my warm baby girl that was sleeping peacefully in my arms. We attempted the first blood draw and her vein immediately blew. This process continued until the 3rd draw when Annabelle began waking up and mumbled, "Noo.... mamamama... hurt... noo......." She had no energy to fight and never pulled away, she didn't even have any tears any longer and could hardly open her eyes if she wanted. The nursing staff stuck her 5 times total and were never able to collect any blood. We all decided that Annabelle needed to go to the hospital, we were done at home and she needed help - if nothing else, to make her comfortable during this time. I pleaded for another option and Dr. Young contacted the carrier that was delivering the formula being expedited to my house.. miraculously, it was delivered 10m prior. She smiled and hung up the phone. Told me to go home, begin the feed and I have 6hrs to see improvement or some change, otherwise we all agreed Annabelle was going to MCV.

Our nightmare continued for a few more days, but very quickly she began to wake up, she began to walk, she began to start talking again and she began to LIVE! It was like a miracle in front of our eyes. By the next morning, Annabelle woke with a smile, A SMILE! She was still so very weak, she was terribly sore and uncomfortable but it wouldn't slow her down much. I could tell her pain was present from her strides when walking, her caution she used when trying to sit down or situp, she moved slow but pushed thru the fog faster and with more fury than I could have EVER produced if I were in her shoes! By day 3 on BCAD1, Annabelle was breaking her sisters crayons and giving everyone in the house hell.


It's now been a month. I cannot believe how far we have come in this month. Last week, we met a team of doctors. They were reluctant to see Annabelle at the moment of diagnosis because the history of diagnosed children with these diseases are most always fatal. They usually pass away during the shock phase of withdraws or they are unable to digest whatever treatment plan safely. After Annabelle not only survived, but is THRIVING from the treatment, they were more than happy to meet her for the first time. The doctor couldn't believe what she was seeing. Dr. Young the day prior cried, and cried and cried with no words, she just kept saying "Who IS she? Who is this child? I have NEVER EVER met this little Annabelle!! I am just speechless" The genetic team had the same thoughts.

The lab work that we ran was to secure our diagnosis of Malonic Aciduria. We began the treatment plan for Malonic Aciduria and she began thriving just as expected and hoped. We eliminated all things from her diet that were hurting Annabelle and her growth escalated even more. Guess what? She doesn't have Malonic Aciduria...... !!!.....?? ..... Yea, I know, I am equally baffled. At the moment the doctor told me, I was quite disappointed, I was really upset actually. I felt like this was the end of the road for us again. This wasn't the case.

The Geneticist explained to me her flood of puzzling questions she has:

• If this isn't Malonic Aciduria, how is it she has all the precise same symptoms. What other diseases mimick Malonic Aciduria that we should be considering?
• Why did the treatment plan work so PERFECTLY for Annabelle, literally immediately turned her around, but without an accurate diagnosis?
• Has anyone else ever used BCAD1 for treatment of any other diseases beside Malonic Aciduria and Maple Syrup Urine Disease (both things this formula is engineered for, both things Annabelle does not have). 
• Does Annabelle even HAVE Eosinophilic Esophaghitis? If she did, BCAD1 should be sending Annabelle into a relapse / flare, but instead she's thriving. 
• That being said, is this a Metabolic Disease that responds and acts exactly like EoE? 

There were so many questions we both had. The geneticist was so very disappointed that we weren't able to identify a diagnosis for Annabelle, I wasn't sad or mad about that at all. Once I realized that just because this doctor couldn't give me a diagnosis from a textbook right away, that doesn't mean she is dropping our case. This doctor wants an explanation so badly, she is fighting and working hard with many genetic teams to figure out: If what Annabelle is presenting, if it's ever been documented or treated elsewhere. The geneticist also explained to me just how rare this is that we are dealing with. Metabolic Diseases that affect your entire body's system is very rare but also extremely serious, and as we have learned, quickly fatal. The only way to protect Annabelle is to avoid any and all forms of the ingredient that is setting this disease off. Sounds easy enough, right? Well, we don't have a clue what that is!!! Without a doubt, two things we know we need to eliminate are any/all forms of Protein and also Amnio Acids. Your body needs both these things to survive, however, they are like poison to Annabelle - they must remain eliminated. We will continue doing bloodwork and watching her growth every 90 days to ensure her systems are functioning and working properly without protein/amnio acids.

I told our geneticist, "I understand and appreciate that you have such a passion for your work and this child that it hurts you to not give us an answer and a diagnosis today. Do I want a diagnosis? Oh, absolutely I do. I want to know what is safe for my baby, I want to know if she is going to survive this. I want to know if vaccinations, anesthesia, medications do not contain ingredients that are fatal to her. I understand you want all these answers too, for Annabelle. But please understand, I am just a mommy. I am Annabelle's mother that has wanted her since the moment I found out she would bless our lives. I have dreamed about her since I first felt her move and I started praying for her the moment she was born a bit too soon. Every moment since this little girl has been part of my life, all I have EVER wanted for her was to see her smile, laugh, live, play, learn and thrive. That's it. I do not need a label on her chart or an explanation for why she isn't a cookie cutter like other kids. She is just my Annabelle Grace and she didn't come with a user-manual; but that little girl over there is smiling at me. She gave me a genuine hug last night and said "Wuv you". Doctor, what you've done for me is give me my daughter, the little girl I have prayed for almost 3 years. I've never met that little girl over there, never, she is full of life and smiles and I am so madly in love with her that words cannot describe. I don't need a diagnosis, that will come with time.. even if we call it the Super Baby Belle Disease, but I needed a safe treatment plan that would bring my daughter back to me and allow that little girl to finally live the life she deserves. And that, we've gotten. For that, I am blessed and grateful. For that, my heart is humbled and satisfied."

I left the doctor speechless and she closed Annabelle's chart (that is about 3in thick at this point, not kidding), she dropped her head and looked back. "I owe you an apology. You, my dear, are a remarkable woman. I want to apologize on the behalf of the doctors, nurses, physicians and hospitals that you have trusted to help your daughter but have let you down. I want you to know that we, as Doctors see a huge variety of patients and at times it becomes very difficult to distinguish the critical cases, the honest parents and the severity of the situations. I understand that ability is what is expected of us, but it happens, patients like Annabelle become overlooked and I cannot apologize enough for the many times this has happened to the both of you. But, I want to thank you, I want you to truly understand how remarkable it is that you haven't stopped trying, and fighting, and pushing and praying for this little Annabelle. She owes her life to you, not me, not anyone else, but to you for not giving up on her and for not stopping when you were told you should have. You are the truest definition of a mother and her child's advocate. You did good mom, you did very good."

I never know what to say when someone compliments me, I hate compliments.. ones like this make me feel like what I have done was heroic or unexpected - it shouldn't be that way and I refuse to accept it. I simply told her, "Im a mom, I never considered to stop fighting for her.. that's just what you do, I would hope every parent would do the same for their child."


Where are we now in the medical world?

1. Working with a Genetic Dietician
2. Working with a GI Dietician
3. Bloodwork every 90 days, currently every 30 days until we see a constant report.
4. Consults with Genetics every 30, then 60 days.
5. Scheduling surgery to place a G-tube to replace Annabelle's NG-tube now that we know she truly needs this formula. She will not drink any orally, therefore it's all administered thru a tube. The NG-Tube isn't a long-term option so were placing the g-tube. 

Where is Annabelle, how is she doing?

• She's crazy.
• She's loud.
• She's opinionated.
• She's hungry with a helluva appetite for anything that's safe for her.
• She's full of energy
• She's loving
• She's sincere
• She's trying to potty train herself despite us ignoring 99% of her efforts bc we have no interest.
• She's grown over 3 inches in height.
• She's gain 4 pounds total.
• She's gotten a haircut and her hair has still DOUBLED in length and thickness.
• Her nails are growing faster than the dirty dishes and medical bills in my house from her.
• She has wet diapers constantly, she needs to be changed once, if not twice during the night just to stay dry.
• She has 1 if not 2 bowel movements a day.
• She is talking like you wouldn't believe. So much, our speech therapist has doubts we even need her any longer.
• She is asking questions!
• She is speaking in 2-3 word phrases! A month ago, she could hardly say 20 words if she repeated them back to you.

Where is our family?

We're trying to recover, we're trying to catch our breath and we're struggling to find a routine for the first time. Annabelle is a two-year old, she's testing boundaries and doing everything we would expect her to do, which means discipline is a pretty tough fine line. Some days it's hard to determine if she's testing boundaries and having a tantrum because she's two or if it's because she isn't feeling well. We will figure it all out with time. Madelynne is 4.5 and going on 13 with sassy-ness. I love her to the moon but this kid is going to give me grey hair! BOTH OF THEM! :) Madelynne too, has been thru more than she ever should and she's adjusted better than I could ever have imagined. She genuinely loves her sister. She adjusts to things that normal toddlers shouldn't. She helps with Annabelle's tubey changes, she let's me know when her pump is beeping and she consoles her sissy when she isn't feeling well. While I am on the phone with doctors and insurance companies, Madelynne will lay next to her sissy and rub her hair when Annabelle isn't doing well and needs to rest. They have a very very special bond that I could have never created on my own without this journey life has put us thru. I hope that lasts, I hope those two sisters always hold onto what they have right now. They truly adore one another.

 Our family is trying to recover. We are so very lost, we are getting to know one another again. It's such a strange shift in our life that I didn't recognize would take place. Suddenly we are trying to eat dinner as an entire family at the table. Suddenly Mady and Annabelle are taking a tubby together. Suddenly we have naptime to work on with two girls that share a room. Suddenly, AK and I have the house quiet and together at 7:30pm - we aren't preparing to conquer the endless night of screaming, vomiting Annabelle. We have mastered the Feeding Pump. I have mastered the storage and organization of all this medical supply in our home. Annabelle has mastered the process of replacing an NG -Tube, to the point that I can now place it solely on my own with no help of holding her down! Madelynne is more confident and independent as ever, she is wise far beyond her age. Our family has somehow shifted into a groove of taking care of yourself and being responsible of everyone at the same time. We've become an 'all-hands-on-deck' family. I look back and I am quite proud at how well we are sailing in this crazy world of ours. We have a long way to go until we find our normal again, then again, maybe this chaos IS our normal? We still have many road bumps ahead, but there is nothing that can slow us down any longer. We've ridden the scariest storm, we've survived together as a family and we're stronger than ever. None of us wanted this ride, none of us were prepared but all of us are stronger and more brave and prepared for life because of it. God works in such amazing, mysterious ways.