Some people call them blessings, but right now, they're scars from wounds we never could have imagined.
Annabelle was very nervous for surgery this time, I believe because she wasn't prepared. She asks a lot of questions about her upcoming surgeries and we always tell her the truth and to the level of detail she will understand. This surgery however, I had to explain they would be giving her a different type of tubey and when she wakes up, it will be sore. She knew her throat and tummy would hurt as it always does after an endoscopy but this procedure added another dimension.. one she couldn't understand and didn't particularly care for. This brought a lot of anxiety... and to be honest, to the both of us.
Surgery #29 was not nearly as smooth as our last several have been. We follow an extremely specific anesthesia plan that we've been using for years, but this time a few things were different: she didn't have an IV to deliver versed, so instead we gave her liquid versed via g-tube which gave a different effect. She was also quite nervous and full of anxiety, so once the drugs kicked in, she became panicked. That's the worst way to go under anesthesia :( it usually means recovery would be hard.. and it was.
While she was being moved from the OR, our doctor met with me in a consult room to discuss what he found during surgery. The Esophaghitis was still very active :( we were both absolutely shocked as we genuinely expected it to be healed by now. It had been 5 months since ending our pork trial and her body still was not healing. He also shared how the GJ-tube placement went and explained Annnabelle had excellent anatomy for the tube and we shouldn't experience many problems with the placement (thank goodness for some good news!)
Shortly after speaking with Dr. Putnam, I was allowed to join Annabelle in the PACU.
That walk is always hard.. I follow the bumble bee's on the floor that lead me to bed #14 and with each passing bumble bee, I could hear a disoriented cry - a mother knows her child's cry but after surgery, anesthesia and intubation, it sounds so different. I pray it isn't my daughter. My pace increases and the sound becomes more and more familiar as I turned the last corner.... it is Annabelle :( My heart dropped and I raced to her bedside.
If you haven't experienced being with your child as they're emerging from anesthesia, it is one of the most heart-wrenching things to watch. They are confused, disoriented, absolutely terrified and hurting - but they don't know who you are, they don't recognize your voice and you can't comfort them. You just pray the minutes tick by faster but then the seconds turn into hours. I sing our song that the girls get sung every morning:
It took Annabelle about 40 minutes from the time I got to her bedside until she began to recognize who I was and she calmed down. Fortunately, she did not seem to be in much pain other than being sore, though she was extremely weak. Our doctor released us directly from PACU to go back to the hotel and rest for the day. We checked into a hotel near the hospital and spent the evening watching American Ninja Warrior and napping.
We stayed in Cincinnati until biopsy results were back from Pathology on Thursday. In the meantime, we had a wheelchair appointment to have the chair adjusted and found a few things to do in the city - like visiting the Cincinnati Zoo :)
Thursday we packed our car to go home, but before hitting the road we made our last stop at the hospital to visit Dr. Putnam where we would hear what was happening, what our plans were and what the future holds. My stomach sank and daddy held his breath from Richmond and watched his phone until I gave him the update. The world froze for the next couple hours and as rocky as the ground was below our feet already, somehow an earthquake hit our family and de-railed us forever.
This is hard to write .. this is the sole reason I have been avoiding this update :'(
Secret Revealed: We agreed to move forward and pay for Genetic Testing weeks ago. Our decision to move forward was made when we committed to the Superhero Fund-raiser for July 15th. Our prayers are heavy that this event will help pay for the testing.. as a mommy and daddy, our conscious and hearts couldn't go another day without knowing what was happening to our daughter.
Genetic Testing is back and has found two conditions:
MCAD Metabolic Disorder
Mitochondrial Disease"Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body (except red blood cells).
Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support organ function. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole organ systems begin to fail.
The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected. Mitochondrial disease is difficult to diagnose, because it affects each individual differently. Symptoms can include seizures, strokes, developmental delays, inability to walk, talk, see, and digest food combined with a host of other complications. If three or more organ systems are involved, mitochondrial disease should be suspected."
AK and I have heard both of these disorders in conversation with doctors for years. Although our prayers have always been heavy that we wouldn't hear this news, our prayers have also been "Just give us answers, please God, just tell us what this is so we know how to help our daughter." Nothing though prepares you for when you hear those words.
We did also opt to find out another detailed level of information. When we met with the Geneticist, they asked if we would like to back-up any findings to the parents genetic DNA. Meaning, if they were to find something in Annabelle's Genetic DNA - we would cross reference those findings to both AK and I to ensure we have a clear diagnosis.
Just as hard and fast as the news was to absorb that my little girl was fighting two life-threatening diseases, I also learned that Annabelle had inherited both from her maternal side. Me. Her momma. The loving, life-giving person that has been by her side for twenty-nine surgeries, held her down for hundreds of needle sticks, prayed on my knees for years - I now hold the knowledge that all my daughters pain and suffering was inherited from me.
... I will pause to simply say, there are no words. There are no words that AK can generate, there are no words the doctor offered nor is there anything that I think I am ready to hear that will provide comfort in bearing this news...
Cincinnati Children's has a Human Genetic doctor that specializes in the specific variation of Mitochondrial Disease her Genetic Testing revealed. We will meet with that doctor August 23rd to discuss the disease and it's progression in more detail. At this time, we are aggressively trying to control and slow it's manifestation.
With the symptoms we know Annabelle is presenting already, she appears to be in Stage 2. The progression and her symptoms remained fairly consistent thru infancy but during the last year they have begun to shift and change. Here are the areas that are suffering now (using the chart above as an easy reference):
- Nervous System - Seizures. Movement disorders. Developmental Delays. Poor balance/coordination (Annabelle began having seizures around 2yrs old, they stopped for a few years and have now returned. Her Neuro-Psych doctor has diagnosed her since an infant with multiple developmental (both physical and cognitive) delays - she's spent a lot of time in therapy and has improved.)
- Skeletal Muscles - Muscle weakness, exercise intolerance, pain, fatigue, low muscle tone. (This was confirmed with our Neuro-Muscular doctor who we have been seeing for years as Annabelle's lower body has succumbed to the exercise intolerance / fatigue / weakness and pain. With a suspected diagnosis of Mitochondrial Disease and supporting muscle biopsy all her symptoms landed us with the wheelchair that we now use daily.)
- Liver - Liver failure. She has been in this category since 2 years old when we removed protein from her diet as much as possible in an effort to stop stressing her liver. Her liver does not filter the bi-product of protein (ammonia) out thru her urine like it should. Instead, Annabelle's liver filters it directly back into her blood stream. High amount of protein = high amounts of ammonia = ammonia in her blood stream. First stop: brain = Seizures.
- Kidneys & Endocrine - Beside the inability to balance her internal body temperature, these systems are not currently affected.
- Digestive Track - I don't even need to list the GI trouble she has, you know that story!
- Heart - Beginning January 17', her heart began to show signs of trouble. Each and every time her body or system is stressed, her blood pressure drops and takes days/weeks to improve. We have never seen cardiac problems with Annabelle until recently.
- Eyes - Drooping eyelids. At this time only her left eyelid droops. It has since she was a few years old. At first we thought it was the result of a seizure, but it's now better explained by Mito. She's also always had an excellent bill of health with the optometrist until her most recent check-up when she failed her vision tests. We are waiting now to have her assessed again.
- Ears - Currently no symptoms
I looked down at Annabelle who was playing on my phone (watching YouTube videos of Baby Alive, if I am being honest), and I just couldn't imagine her being hooked to a pump for the rest of her life. Perhaps one day we will be there, but as her mom, I needed to be her advocate right now. I asked if there was any room for negotiation and we agreed to 20hrs x day, absolutely no less. That would give Annabelle 4 hours every day to unhook from her pump and climb trees, play, run, ride her bike, swim in a pool etc. We agreed to split that time, 2 hours in the morning and 2 hours in the evening.
We also needed to allow her body to heal from the Esophaghitis that was still aggressive and active. The bulk of the damage was at the bottom of her esophagus which tells us reflux (despite her stomach being wrapped tightly around her esophagus to AVOID reflux) was still quite active. Her stomach itself was not working properly. It was dumping food heavy and quickly, not allowing her body to absorb nutrients and causing her to loose weight.
We knew the top portion of her GI was failing, and know the bottom portion is failing, but now we've lost her stomach too :( The decision was made to stop feeding Annabelle ANYTHING by mouth, put absolutely nothing into her stomach and only provide feeds thru her intestines from now on.
We got into our car in the parking lot and I kissed Annabelle over and over and told her how much I loved her and how proud I was of her. We buckled in and I ensured her carseat was harnessed super snug and safe for our trip home. Once we had our movie (Trolls) playing on the TV, I selected "Go Home" on our GPS and exited the parking garage. As soon as I was able to breathe and clear my thoughts, I made sure Annabelle was occupied by the TV with headphones and called AK. That was one of the hardest conversations we have ever shared, and I wish more than anything it didn't have to be over the phone.
Another hour we stopped for gas and potty. I grabbed a water from our cooler, got back on the highway and again considered turning the radio on but couldn't bring myself to decide what type of music I wanted to hear.. so I left it off. Even today, I avoid the radio. Classic Rock is my favorite, but every song has a memory "before we got our diagnosis". Pop music is too happy.. I don't want to be happy, I am furious. Country music will make me even more depressed and Contemporary Christian, which is what we typically listen to, simply felt like a salt in my wounds. I was and am still so broken and bitter, our faith is being tested and while I know and still trust God to care for my little girl - I am heartbroken. I still don't want to listen to the radio.
After driving for several hours, Annabelle was asleep. We passed Charleston WV, our half-way point, Belle was still snoozing so I kept driving. Before we knew it we were in Beckley, WV and I asked Annabelle if she was ready to stop and get a hotel for the night. She begged and pleaded to go home. I've never driven from Cincinnati, Ohio to Richmond, Va straight & on my own but that night.. in my numb state and a motivated Belle to see sissy - we did it. We arrived home shortly after 10:30pm and met daddy in the driveway. He immediately picked up his baby girl and loved her far too long as I was next in line waiting for that same embrace. Belle was excited to be able to see her sleeping sissy, so AK and I both fought back our tears together and joined Annabelle to wake sissy and tell her she was home.
We've never slept better to be back with our family. We've also never slept worse knowing what is happening to our family. I think that night was the most solid, non-restful sleep I have ever gotten. By 4am AK and I were both awake and crying.
We have not told either of the girls her diagnosis, for all they know "we still don't know what is wrong". If you've read this blog before, you know that our philosophy is that we never lie to our girls and we tell them the honest truth about every step. We are just at a loss for our own words right now.
We can't bring ourselves most times to tell family and friends what is happening, we don't know the right way to explain a lot of the unknown future.. when we find the right words, when we find the right timing and when we think the girls are prepared to hear - we will sit them down and explain. But in the meantime, the monumental changes in our home and family dynamic are enough to process. Not allowing our 5 year old to potentially never be allowed to eat food again, forcing our 8 year old to not mention or eat in front of her sister, hiding in closets or eating on the porch after bedtime is enough for us to try to get used to.
We are spending our days finding the blessings in everything. We push Annabelle to explore and see the light of life around her despite the confinement of being in the house most the day and tethered to pumps. We have gotten out of the house and cheered Madelynne for our first Swim Team meet of the season - Annabelle also got a chance to cheer her little friends that were swimming too (we had to pull her off the team weeks ago. This should have also been Annabelle's first swim meet, but instead we watched from the side of the pool together).