Change of plans

"Mommy, I'm scared. I don't want to go on an airplane and I don't want to go to Cincinnati. I don't want to go to anymore hospitals or have a tubey and I don't want a wheely-chair. 

I want to be 5 and not sick anymore, please. Please mommy."

We have hit a point that she's clearly identified herself as different. She recognizes how unique her body is from others her age.. and now that school is on the horizon, she is searching for opportunities where she can be 'normal' and pretend she isn't as sick as she is. We negotiate with her as much as we possibly can, while still maintaining the necessary care she requires to keep her 'safe'. But it's hard. It's hard to negotiate a pizza slumber party at a friends house when she can't eat pizza OR spend the night away from us. It's hard to talk about the school bus and school activities when she can't ride the same bus as her sissy and friends and she won't be able to participate in recess and P.E. She wants, begs, pleads and cries for me to allow her to do these things.... all the while it's her own little body that fails her, but she blames us (me specifically).

As the time to travel back to Cincinnati for our 'quick trip' to pickup her wheelchair nears closer - I contacted a few doctors to try to make the most of our trip. That apparently, opened a can of worms. Here's what I have discovered... try to hold on.

A year ago, we saw Human Genetics and Dr. Burrows explained what we already suspected, Eosinophilic Esophaghitis is NOT Annabelle's leading diagnosis. There is a global issue with her body, likely genetic, and in order to treat/control the EoE, we need to first determine what the overlying issue is. The best way to find this answer, is to study her Genetic DNA to find the defect. However, looking for an issue in DNA is literally like looking for a needle in a haystack. So, what we do is try to narrow in which areas of her DNA we believe would hold the answer.

Think about DNA as a mile long strand. Each section controls and impacts different functions of the body. We know she has an auto-immune disease, so we retain that section of DNA, we know she does NOT have Downs Syndrome for example, so we eliminate that section. The more we can confirm and/or dismiss, the more specific and closer we can get to where we believe we can find the defect. In order to narrow in where we want to look .. we go 'shopping' with other doctors, seeking their opinion and perspective. And that's what we've done, for a year, we've shopped.

She has an issue sleeping: Visit the Sleep Clinic
She has very little endurance: Consult with Neuromuscular
Her behavior, attention and attitude is a concern: Meet with the Neuropsychological team

Our Geneticist coordinates who we will see, we visit that team, gain their perspective on Annabelle from their expertise, if they determine she has a supporting diagnosis from them or they see an issue that could help pinpoint our answer in her genetic DNA - than we collect that information and keep moving.

So for a year, that's what we've been doing. That was our homework in order for us to get an answer to save Annabelle.

Side note, if you weren't following last year: We had three options. 1) Take Annabelle home, enjoy our time with her and pray that she can have a wonderful quality of life for what we have left. At the time, Annabelle was gravely ill and as her parents, 'giving up' has never been an option. 2) Begin the testing immediately. It would take years and years and insurance will not cover any part of the research. The team studying her DNA wouldn't have the first place to start and there's a chance we would lose Annabelle before they ever even found an answer. Basically = lots of money that we don't have + little promise to finding an answer. 3) Put Annabelle thru a series of testing and assessments so we can have the best information available when we choose to go forward with the DNA testing. Thru the series of tests/assessments, we will also begin to work with teams of doctors that will be able to help Annabelle and recognize concerns that we otherwise may have never been able to support and help her (aka, ADD / Anxiety / Depression diagnosis, Encopresis diagnsois, Limb Movements in sleep which keep her from getting rest, wheelchair to help her gain more independence vs sitting on the sidelines because she can't keep up). We choose to go with option 3. It allowed us to continue moving forward to improving her quality of life AND we are still on the same path to one day gaining Annabelle's 'Global Diagnosis'. Once we discover that, we will be able to treat the global issue and in result, hopefully control everything else that is hurting and damaging her body. Our only hope in saving and helping Annabelle is by getting that diagnosis. Every minute in between then, is sheer prayer and Belle's fight and determination. .. .. .. .. also, I hate to even share this disclaimer, but there's also the chance that they STILL may not find the issue. Our entire team believes we will, but they do communicate to us, that it's still a needle in a haystack effort. We're giving it our best shot to finding it by doing the leg work, but at the end of the day, it's still an incredibly expensive, incredibly long process and zero GUARANTEE. We are okay with those odds. It's still the best option for our family.

Back to our trip.
I called and wanted to schedule with our Genetics Team just to make sure we were still on track with our 'homework' and determine if there are any additional tests/consults they want us to perform when we return for our next planned surgery in October.

That began a spiral of even more 'homework' aka labs, procedures, tests etc. Our Geneticist learned how badly Annabelle relapsed in April and he's determined to keep the ball moving as quickly as we can. We don't have an explanation for why she relapsed, which is scary bc if we didn't cause it than we can't make the change to get her back into remission. Based on the findings with Neuromuscular, the strength in her legs and hips are deteriorating which tells us that whatever is happening, is spreading.

He wants a muscle biopsy done ASAP. In order to do that, Annabelle needs an Echo-cardiogram and EKG, but they want that performed with their own Neuro team in the Multi-Disciplinary Clinic where we'll consult with Pulmonary, Cardiology and the Pediatric Surgeon. Before we do THAT however, we need to have a slew of labs drawn. Labs that have to be drawn after Annabelle has been fasting. We did a lot of labs the last time Belle had surgery (bc she has to fast prior to surgery of course), but they weren't the same as what this team is looking for. I believe they need a full Metabolic Panel, seratine, carnatine, acid, DNA extraction etc etc levels. (I can't speak labs. I can speak medical, but I do not speak labs lol).
Regardless, we have a problem. I haven't had Annabelle fast alone with me in years. The last time she did, we had serious problems and landed in the hospital where she could barely regain consciousness. Thus the reason why we have to be admitted every 3 months prior to surgery. In the hospital they monitor her better, she remains on IV fluids, glucose etc and exerts very little energy as we wait for surgery. They want me to begin having Annabelle fast tonight, get on a plane tomorrow, and then wait several more hours and we draw labs. Holy guacamole, PANIC! I'll be completely alone with Annabelle, 3,000 feet in the air and unable to feed her, give her medications, or care for her and just pray like a crazy person that she can make it to the hospital in Cincinnati before giving me a full on heart attack.

I agreed to do it.

I know, I'm crazy. So please, pray for Annabelle's safety tonight and tomorrow. Just pray that we can make it to Cincinnati Children's as quickly and smooth as we possible can. Once we are there, I will exhale until the labs are drawn and I can hook her up to feeds again.

Second scheduling nightmare that I've run into is a little preliminary.. looking ahead at surgery in October, we need to perform her routine upper and lower endoscopy, but our GI doctor wants the Motility team with us in the OR. Their team is interested in Annabelle on the Encopresis side of things.. they want to do an Esophageal and/or rectal Manometry and perhaps begin botox treatments if necessary, to encourage her lower GI to begin working on it's own again (we've been flooding her with so many drugs daily since April, that her lower GI hasn't worked on it's own for months). Since we will already be in the OR and under anesthesia for all these procedures, I am requesting that we wait for the muscle biopsy for this time. It's ideal for Annabelle (from an anesthesia standpoint only), it'll be very painful because of all the procedures they'll be performing, but it's also a scheduling nightmare because I have to coordinate so many surgeons at one time for her. This is something I will simply be continuing to work on.. but it's certainly in the pipeline and is causing daily phone conversations to take place already.


I know that was a huge update, I apologize for the confusion. But I did also want to share how the meeting at the school went.

We met yesterday with another large team, where they read to us all their findings during the numerous assessments they did with Annabelle. Every single one of them concluded the EXACT same findings as those in Cincinnati (I hate this for Annabelle.. to have to waste her time to go thru it all again). I wasn't surprised in the least but I guess we just have to go thru the motions. They did not honor her an IEP because they claimed her medical needs do not make an impact to her academically. I disagree whole-heartedly. For many reasons I disagree, but I am okay with it.. for now. Fortunately, they did agree to offer a 504 Plan. This is what I prayed we would get. The entire meeting though, was simply to share with me the findings and the plan = 504. We have to schedule yet another meeting to outline the 504 specifically. At that time is when we will discuss whether or not they'll allow Annabelle's nurse to accommodate her in school. I stated one final time at the table, that it isn't negotiable to not have our hired nurse with Annabelle. She explained that they'll have a representative from the county to be part of that conversation. I encourage it :)

So the meeting wasn't terrible. It wasn't bad, it was fair. I feel as though they got a great assessment of Annabelle thru their meetings with her (all our reports and explanation gave them the same information but they wanted to learn for themselves and I'm glad they were able to get it.) I look forward to our next meeting in a few weeks, and so does Annabelle, i'm sure.

Tonight, I will finish packing our families bags and Annabelle and I will head towards Washington DC. We are getting a hotel for the night so that we will be near Reagan Airport for our 6am flight tomorrow morning. Once we get to Cincinnati, I'll pickup a car from Enterprise and we'll head to the first hospital. There we will wait for the lab draw with the IV pit team. After that we have an appointment at the hospital down the road for the Wheelchair Clinic where she'll do her last fitting for her 'wheelychair' and then we take it home. From there, we will drive 30mi North to Mason, Ohio for the appointment with Dr. Burrows in Human Genetics. Afterwards, I am praying we will have a smidge of time to go to the aquarium before heading back to the airport. Our flight leaves at 8pm and will take us directly into Orlando, Florida where AK and Mady should have arrived via car and we will spend the next three days with some of our favorite friends. Sunday morning we will all drive back home to Virginia. Monday, back to the grind :) WHEW!!


Keep our family in your prayers if you would. Please. Pray for comfort and the safety of Annabelle as we begin to have her fast tonight, pray for a peaceful nights sleep in the hotel and safe flights tomorrow. Please, pray that her body is able to stay within safe ranges that she makes it to the hospital before we're in danger from fasting. Pray for comfort and clarity for my mind tomorrow as I travel hundreds of miles alone with my baby. Also, please, keep AK and Madelynne in your thoughts as they drive the 600 miles to Orlando where they'll meet us late tomorrow night. It will be a very long day for our family and we appreciate your love, prayers, well wishes and never-ending support for our little girl. Thank you, so very much friends.

xo