Since the moment we found out Annabelle would come into our family, we fell head over heels. A few weeks into the pregnancy, doctors began to take a closer look at her, we worried but remained optimistic. We decorated her nursery and named her Annabelle, although we didn't have a middle name picked out yet. 7 weeks before she was to arrive, Annabelle demanded her birthday sooner. She came into this world strong as ever and fighting with all her might. I watched her thru the incubator glass as I sat in my wheelchair of that NICU - the baby girl that we prayed so hard for was here ... but she scared the hell out of me. From her red/blonde hair at the time, down to her tiny square feet, the warm fuzzy feeling a mom should have, felt nothing like nurturing. Instead it felt purely like fear. I watched her all night and made her a promise, "you keep fighting baby girl and I will fight for you.. You're the blessing in our family and while I don't quite understand you yet or why God has chosen me as your mommy - I just know you will bring us Grace in this storm."
Grace. Annabelle Grace Bishop was named that night and our promise has remained strong since.
We have traveled from Richmond to Norfolk, Baltimore to Boston and now Cincinnati OH to figure out the uniqueness about our Annabelle Grace. She has fought the hardest battle for over three years and we have stood next to her every minute - advocating on her behalf - fighting insurance companies daily - sleepless nights researching the Internet - reading medical textbooks that I can hardly decipher - praying and encouraging others to pray for us.. Each night we laugh, we snuggle, we usually cry but we are together as a family. Grateful for the day God has given us and praying for better news tomorrow. For over three years we've prayed for better news and we never seem to find it.
Cincinnati Children's Hospital has been the biggest blessing and asset to Annabelle's story thus far. In only 1 week, we have made bigger strides towards figuring out what is happening to her frail body than all the years of testing and past surgeries combined.
SUNDAY / MONDAY - SURGERY PREP AND MEETING OUR DOCTOR
We met Dr. Putnam Monday morning in our hospital room as Annabelle was being prepped for surgery. He casually walked into our room and watched Belle closely before introducing himself.
"So what's been going on?"
"Well.. The story is long Dr. Putnam but ultimately were here for answers that we can't seem to find anywhere else."
He continued to watch closely.. "She has Eosinophilic Esophagitis, doesn't she?"
" yes, but.."
"Mrs. Bishop - this child does not only have Eosinophilic Esophagitis.. But my question to you specifically is this, and don't take it the wrong way.
What do YOU want from ME?"
Wow that's a question. I've never had a doctor ask me what I want before. It's probably the question I've always dreamed about being asked, but when those words fell from his mouth - I found myself speechless and looked at AK for help.
"Dr. Putnam. I want you to save my daughter. I want a realistic answer for what is wrong with her and I want to leave this hospital with a responsible game plan that gives us some direction as to how to safely care for her, what our future looks like and also ... I want to make her as comfortable and as happy as she deserves to be. That's what I want from you."
His scenario blew me away. Here was his response:
Let's look at it like this - Hypothetically, Annabelle has a cold. A cold.
She has a runny nose, congestion, sore throat, headache and fever.
I could send you to an ENT, Pulmonolgist, Neurologist and Encrocrinologist. Individually they will each help you address all the symptoms but in reality - she just has a cold. The fever doesn't give you a sore throat and the headache doesn't give you congestion. Treating them individually never helps rid your body of the cold virus. It's expensive and a narrow minded way to treat the actual problem.
Find a doctor that will pull their head out of the sand and recognize, it's just a cold!
Now on a much higher, severe and dangerous scale, we have Annabelle.
She has eosinophils in all the wrong places in her body. She has seizures, body temperature instability, headaches, menstrual cycles, she fails to grow properly, she is delayed in a multitude of areas, her liver is failing and her body overall is succumbing to something. She does NOT just have Eosinophilic Esophagitis. You cannot save this child by treating each and every symptom without determining the primary and global problem.
..... I was speechless and fighting tears. "That is everything we want Dr. Putnam. That is why we are here."
Dr. Putnam: "Then that's what we're going to do. I cannot promise we will get the perfect answer. I cannot promise we will get you an answer before she's in college. I have less than 20 patients just like Annabelle and they're all a mystery to me and the medical world. Not all answers are out there. But I DO promise to fight as hard as I can for you and give her the best care, responsibly, individualized for Annabelle just as she deserves. You will go home with a game plan and she will go home and wear a smile this summer. That I can promise."
He left the room to get paperwork for us to sign. I broke down. I haven't let tears fall like that in so long but I couldn't hold them back. In that moment I didn't care what what we came home with or what a diagnosis would be. I was just so grateful and relieved to finally here logic and genuine, educated, concern for the same person as I care about so much in this world. To know we have another doctor (our pediatrician being the only other one) on our side, is more of a blessing than I could ever ask. I feel safe, I trust him with my baby.. Trust is something we have struggled with for years - I don't trust anyone with Annabelle. But I trust Dr. Putnam. He understands her.
Thank you all for praying so hard for us and for God sending this doctor to our baby's room. Thank you Dr. Putnam for seeing what it is I have tried to explain to doctors for years. Thank you for believing in us and in Annabelle.
When Dr. Putnam came back into the room, he explained what is likely the explanation for Annabelle. He believes she has a form of either Mitochondrial Disease or some other form of Inborn Error of Metabolism / Metabolic Disorder. The testing is approximately $7,000 and often not covered by insurance. It will involve extremely painful, invasive tests, muscle biopsies from her hip, live fresh tissue samples and an incredible amount of blood work. With all the testing, time, pain and money - there is still a chance that Annabelle will still have this type of disease but due to the thousands of DNA, tissue, mitochondria and cells that have to be tested, we may never actually get an answer that has a name. It's a gamble. If we roll the dice, there is also a chance that we DO get a name to what she has.
With a name will come understanding.
- Floods of benefits like assistance from insurance. It's really hard to request supplies, tests and a wheelchair when you don't have a diagnosis beside your name.
- The ability to explain to people what is wrong with Belle, with a name and understanding of the disease is a blessing in itself. As a parent of an undiagnosed child, the judgements in the medical world and community are heartbreaking. Everyone questions what we're doing and why. Every doctor looks at me like I have three heads when I make certain decisions. Strangers read me a novel on suggestions for what worked for them and what pediatrician they love.
- While a name to her illness wouldn't solve everything, it would truly solve everything we want for her.
- To be able to explain to Annabelle when she asks questions about her body.
- To explain to Madelynne what is happening to her sister.
- As parents, to know what a future may look like.
- To justify to insurance companies why we need xyz and to be able to shut up strangers in the Kroger checkout line.
It's a gamble. Do we roll the dice and put Annabelle thru more hell for the CHANCE to get a name, or do we learn to live with what we have?
MONDAY AFTERNOON - SURGERY
Dr. Putnam met us in pre-op before surgery began. He told us the plan and how long surgery should take. He also said, "no pressure on you both. But while she is under, is it alright if we take blood to use for Mitochondrial Disease testing if that is something you both choose to pursue? We can get a good amount of blood now and some of the testing can be performed after its frozen.. Now or years from now. Would you like me to do that for you while you both decide what you want to do?"
We agreed. They took a great deal of blood from Annabelle while she was under anesthesia. Surgery continued to run smooth.
Before we were able to see Annabelle, I told you Dr. Putnam's nurse pulled us into a tiny consultation room. I panicked when she shut the door. I don't like small private rooms when my daughter is on an Operating Table. I want to be left alone until I see her again. End of story.
We sat quietly and motionless as she gathered her paperwork and words. She confirmed who we were speaking about... Annabelle Grace Bishop - Birthdate: 9/20/11 - Address: ..... Check check check.
Mr. and Mrs. Bishop, for starters, Annabelle is ok. She's still in the OR and they're just finishing up now. Dr. Putnam wanted to speak to you here before you go see her.
He joined our tiny room, the size of a closet.
"What is Annabelle's diet right now?"
I frowned because I knew he would be disappointed. Her diet is RECKLESS for a child with EoE. "She eats all fruits and veggies, she's also allowed chicken, coconut milk and rice. All foods are natural and organic. Always whole foods and mostly prepared at home with no cross contamination."
"Hmm... What medication is she taking currently?"
Again.. I knew where he was going. This was the first time he's ever performed a scope on Annabelle. Her GI system is always in terrible shape. She always has bleeding gastritis in her tummy, she's always had white plaques and furrows, esophageal rings closing her esophagus and scar tissue from all the prior damage. AK and I know this and expect it. We knew her scope would look awful, we planned for that news, there's no way it wouldn't look bad. She's only ever had ONE good endoscopy in her life, and that was bc she was flooded with drugs, hadn't eaten any food or drink in over 117 days and was tube fed. That was over two years ago and we've only been reckless in her EoE care ever since. Doctors in Richmond don't understand Annabelle's EoE enough to safely control it. That's why we're in Cincinnati.
He handed us printed pictures of her GI system that he took during the Endoscopy. I looked at all three pages... Then I looked at them again... "This isn't Annabelle, these aren't her slides"
"They are.
Mr. And Mrs. Bishop - Annabelle does not show any indication of Eosinophilic Esophagitis at all. She was clean. She did not have any signs of damage, she did not have irritation or bleeding of gastritis nor did I see signs of an inflamed lower GI."
"But how is that possible? How in the world is that possible?!"
In that small room, filled with his nurse stunned, the doctor in disbelief and AK and I completely in shock - we stood silent. Dr. Putnam told us that just because visually she looks well, does not mean the biopsy's will reflect the same. Nor does it mean she isn't suffering in other forms - but for now, we need to keep praying to whatever were praying and exhale.
We were escorted out of the room where we fell into the nearest chairs of the waiting room. We couldn't talk. We could hardly mumble..... I don't understand.. I don't ... Understand.. How is this possible?........ I don't understand...
I looked at AK. "The power of prayer AK, I'm leaving it to that. With as many prayers have flooded the heavens with Annabelle's name, he sure has delivered this time.
Power of prayer."
All that prayer and credit goes to you guys!
We joined Annabelle in recovery where she spent the rest of the day disoriented, in pain and exhausted. We were able to leave later that evening to check into a hotel where we could get a shower and much needed undisturbed rest.
Dr. Putnam asked how long we would be able to stay to get answers, we told him "as long as it takes, no questions asked." He wanted us to see Genetics to gain another opinion on any sort of Metabolic Disorder / Mitochondrial Disease. He didn't know if we would be able to see the doctor during the week and asked us to stay until we could see him. When Dr. Burrows heard of Annabelle's history - he asked to see us right away. We got an appointment Tuesday afternoon at 3:00pm.
TUESDAY - HUMAN GENETICS
Meeting Dr. Burrows and his team was exhausting, long and required digging into a history of our minds that seems like an eternity ago, when in reality was only within the last couple years. Each problem we've occurred, we needed to document the dates - which medication she was on, which diet she was undergoing, what the symptoms leading to the issues were etc. We met first with the geneticist intake coordinator and nurse, she asked our series of questions while we told our story. We mapped our family tree and finally it was time to see the doctor.
The conversation was long, but worth every minute of it. I was heartbroken but relieved to hear his expert opinion of Annabelle and how closely it compliments that of Dr. Putnam's. To have doctors in two very different fields, see the exact same rare issues with our daughter and not hesitate to communicate them, is nothing less than magical. (I know that sounds ridiculous, but those are words we've never heard before. Doctors never understand or agree on anything with Annabelle. It was like stars had aligned in Cincinnati Children's Hospital for us.)
He also believes Annabelle has either Mitochondrial Disease or an Inborn Error of Metabolism. He explained his position on this preliminary diagnosis for Annabelle and explained to us what seeking a diagnosis may involve. Dr. Burrows does not wish to pursue muscle biopsy testing. After we heard the second professional opinion of the same set of diseases in two days, AK and I decided we would pursue getting a diagnosis. Dr. Burrows requested additional labs, this time to be tested fresh and not frozen. We will work hard over the next several months to narrow in which cells and DNA need to be studied to hopefully determine where the defect is hiding.
He was very concerned with the amount of neurological damage Annabelle is demonstrating. He did not like to hear about her lack of pain management and requested that he sees us next time we are in Cincinnati - at that time we will also schedule to meet with the Neurology Team to evaluate potential damage. We're not sure yet what those tests will look like.
Before we left, I had a few final questions.
"We have another daughter at home.. what are the chances she also suffers from this. And, AK and I have always wished to have more children but are scared to death for something to be wrong with them too. We could never consciously subject whatever Annabelle has onto another life.. "
The doctor first time us both to exhale and breathe.
"This is a genetic disease, HOWEVER it likely did not come from either of you. There is a chance it could have, but most likely at the time of conception when both your DNA combined - during that time is when something went wrong for Annabelle. It likely did not begin with either of your DNA.. it likely happened while Annabelle was in the making. Did you have a hard pregnancy Ashley?"
I did. My body tried to miscarry for months. I was taking medication when I was pregnant and suffered from Hyperemesis Gravidarum the entire time. I now weigh approx. 140lb. I weighed 124lb the day I left the hospital after giving birth to Annabelle. I was terribly sick and she struggled the entire pregnancy. It was a miracle I carried her to 33wks, our doctors had very little hope she would make it that long.
We left the appointment feeling so refreshed. The flood of worry and guilt will never leave our minds, as a mother I will always feel guilty and live in fear that I have done something wrong to cause Annabelle this pain and suffering. My body failed her, my pregnancy didn't do her justice and didn't do what a woman's body is made to do. Every single day I live with guilt that I am not doing what I should for my suffering child. To hear a doctor tell us with clarity that there is a very very little chance that this is neither mine nor AKs 'fault' is a blessing to our mind and hearts. It's the biggest relief to know our other daughter may never succumb to what Annabelle is and it's comforting to place 'future children' back on our family wish list if we should choose to do so later down the road.
After the appointment we headed to the lab where more blood was drawn and Annabelle fought the most traumatic fight I've ever seen her fight. There is no need to go into detail what that afternoon involved, I don't even want to think about it a moment longer - it makes me nauseous to flash my memory back to that horrific room where my child was tortured and begged me for help as I held her down. Her veins are blown and are still swollen and bruised. Her hands and arm are still sensitive to the touch and its been almost a full week.
THURSDAY - BIOPSY RESULTS
We met Dr. Putnam in the GI Office to review results and finalize our week. After talking about her extensive history and what we had been thru during the week and also what we've decided with Dr. Burrow's - it was time to hear the biopsy results.
They were normal.
I repeat, THEY WERE NORMAL!
Do you understand the healing power of prayer that absolutely had to occur to make this possible? AK was the first to giggle, he laughed and chuckled and grabbed my hand - I teared up and began studdering with him. Oh what a blessing it was to hear those results.
Dr. Putnam explained that just because these results were within normal range, does not mean the disease is gone - it's simply dormant at this time. Since we've never really given Annabelle the opportunity to show us a baseline of this disease, he wants to change absolutely nothing with her care. He asked us not to add any more food, but do not remove any food. Most importantly, do not go back on any of those god-awful drugs at all. This way we will be able to see a true reflection of what the disease does when untouched or modified. (Disease being only Eosinophilic Esophaghitis, nothing else).
And because the EoE is the very least of our focus while in the hospital, Dr. Putnam moved our conversation forward.
"Children with Mitochondrial Disease and Inborn Errors of Metabolism are chronically ill Mr. and Mrs. Bishop. Do you understand what that means for Annabelle? They are in chronic pain, they live each and every day fatigued and facing dangers to their body we never have to acknowledge. Each time she becomes sick, too fatigued, has a seizure, doesn't maintain her body temperature etc, she is damaging the mitochondria in her cells. Mitochondria are the power house of the cells and can never be repaired. The more damage you do - the faster she looses the battle to this disease. Everything within her GI system is sensitive to the touch, whether that's an air bubble, food, water etc - it's excruciating to her. I am going to assume she doesn't sleep or rest well? (bingo!) We need to control Annabelle's pain first and foremost before we do anything further. With better pain management, she will gain rest that her body critically needs to safely protect and preserve the mitochondria. With better pain management, her GI system will hopefully begin to function better because she can relax. If her GI system cannot recover with pain management, we will have to begin invasive Botox injections throughout her small and large intestines to encourage things to begin moving. The nerve and cells may never work to their fullest potential again, but protecting them immediately, now, needs to be our top priority. You understand?"
Dr. Putnam went into great detail what our future will look like for Annabelle with these diseases. He explained again that we may never get a confirmed DNA diagnosis, but for now she will be treated and cared for as a child with the disease. Often times, these diagnoses will come from an educated doctor that assesses the child and their symptoms and will deliver the diagnosis without blood confirmation, simply because it's too hard to find.
Our hearts broke as we listened to what these children endure - we looked at Annabelle, completely broken inside and wanting to scream "NO! NOT HER! PLEASEE!!!!" but we couldn't. We came to Cincinnati for the truth and answers, we aren't allowed to be picky on what we hear. Answers and a doctor that stands behind her is what we wanted and what we got. But it wasn't pretty.
Dr. Putnam is placing Annabelle on a heavy pain killer that she will take daily. It's also a sedative that will force her to sleep and gain continuous rest. Because of the drug, he ordered her to have an EKG to approve her to take it. We still have not gotten the results of the EKG so we cannot begin the medication quite yet, hopefully everything will come back soon.
I will post pictures of the week in Cincinnati, Our homecoming, Answers for Annabelle, Videos etc very soon.
For now, please know how much you have made an impact on Annabelle and what we were able to achieve while in Ohio. Without your love, support, donations and prayers, we would have never been able to secure the team that will now 100% care for her from this day forward. All our care and doctors have been moved to Cincinnati Children's Hospital. We will work with our pediatrician at home for when we need immediate assistance, but when we need help, consultations, surgeries, test, etc- we will be traveling to Ohio. Our trips will likely be every 4 months for surgery and evaluations.
Your prayers have been answered for Annabelle. We all wish for better news from our trip, but we got the news we needed. Answers for Annabelle is what we came home with - that is our prayer answered in itself. Thank you all, from the bottom of our full hearts - thank you thank you thank you!
