The unsugar-coated, harsh truth.

I try to update as things change, we cross off appointments or we get rest results. We’re moving along praying for answers and making progress, but I may have failed to truly let you in on what our goals are and what we’re looking for specifically – beside the obvious, a diagnosis. Typing the honest, hard truth is painful. I don’t even think I will be able to re-read this once I’m done. But if you’re brave enough to read thru – here is what is happening:

Our fear, as I have mentioned is that Annabelle Grace has 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 growth. When they fail, less and less energy is generated within the cell. Cell injury and cell death follow. As this process repeats itself throughout the body, whole systems begin to fail and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. 

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection. 

Because of hurdles for determining whether or not this is Mitochondrial, we have to first convince Dr. Teasley (MCV Neurologist with Mito interest) to see Annabelle. The wait list to see such a specialty doctor as her, is longer than you can imagine. My pediatrician has been working diligently at contacting her and Dr. Teasley has agreed to see us. First however, we need to cross off every other plausible explanation to explain what Annabelle is experiencing to ensure that Mito is going to fit the bill the best. Downfall to this, the longer we go without a diagnosis, the more damage will be made by Mito to her body, if this is indeed what she has.

Our efforts in finding other explanations for what is going on: 

• Brain MRI - Looking for a tumor or something to indicate there is an issue, physically in the brain. They found several cysts on her brain, but all were so small that they couldn't be justified as an explanation for seizures, growth stopping, inability to regulate body temperatures, etc.
• Neurologist - We met with a standard pediatric Neurologist that supported the Brain MRI but did not feel as though this would be our solution, she was right. She suggested seeing someone immediately to discuss Mitochondrial Disease, we are already on this path - just checking things off the list.
• Endocrinology - He has concerns over Annabelle's growth and height. He took much interest in the difference between Madelynne vs. Annabelle. He also discussed heavily on her developmental delays. The Endocrinologist ordered a Bone Age Study: it came back indicating Annabelle developing as an 18 month old, a little behind, but not terrible. Hormone Levels: They came back in the normal range, a bit high, but nothing to red flag. Chromosomes, specifically the X Chromosome: That hasn't come back yet, it will take another 2 weeks, minimum.
• EEG - Reading brain waves, studying specifically for indications of a seizure disorder or irregular brain waves. Where the Brain MRI was showing us something tangible on the brain, the EEG will show us how the brain is actually working and if everything is functioning normally. 

With every appointment, doctor and test that indicates everything is functioning 'normal', this is another sign that points us to Mitochondrial Disease. None of these tests can tell us if the CELLS are dead in these areas, only if there is something irregular.. we're praying with everything we have that we receive news from the EEG results that it indicates something irregular. The EEG is our last opportunity to find an explanation for what is happening to our little girl, before exploring Mito. How terrible is it to pray to find something? It's even more terrible to hear it's possibly Mitochondrial.


Why we're scared.
If this is Mitochondrial Disease, we will already have a pretty solid idea on what is happening to her body without an extensive amount of tests.

• Damage is already done to her Immune System. We learned this in January when she went into auto-immune. Anytime Annabelle gets sick, it takes her tired body 5x longer to recover than anyone else in our family. Fortunately, since March, we have managed to keep Annabelle moderately healthy and unexposed to any viruses or colds that could have triggered her Immune System to need to kick in. At this time, we don't know how weak it is, we only know it's very compromised.
• Her Gastrointestinal System is failing. Annabelle first started showing signs of GI concerns, at only several weeks old but they didn't escalate until shortly before her first birthday. Since then, her system has taken a terrible downhill slide into our diagnosis of Eosinophilic Esophagitis in March. If the mitochondria had begun to fail in her GI System, this damage of the cells would result in the form of: Eosinophilic Esophaghitis. Basically, EoE comes from Mito.
• The damage is taking over her Neurological System, specifically centralized around her Brain Stem: Delayed milestone achievements (sitting, crawling, standing, walking), Growth suddenly stopped, Inability to regulate body temperature, seizures, Speech and Communication delays, Loss of coordination / balance, spells of unconsciousness / consciousness, etc.

We're scared because we have every single sign and symptom pointing towards Mitochondrial Disease.
We are scared because every test we have performed has been negative, thus pointing us stronger towards Mitochondrial Disease.
We are terrified at how fast this has manifested over the last several weeks.
We are terrified that this disease has every potential to take our little girl away from us.
We are scared to death because more doctors than we can count keep repeating the same words, "Mitochondrial Disease".
We are furious that if this is diagnosed: we could have had the opportunity to save Annabelle, and preserve at least her Neurological system several weeks ago when all this began.. we could have explored this months ago when I cried my eyes out to a doctor telling them, "Something is very wrong with my baby, PLEASE help her!" and no one listened. 

I am absolutely broken hearted with every minute I get to spend with my baby girl, watching her smile and wondering if the next seizure is going to take her from me. I fear what the next sign and symptom will be, because another is promised, it always presents itself: will it be a loss of her memory? will she remember who we are or wake up lost? will she loose her eye sight and be scared because she cannot see? will she lose mobility and unable to walk or stand or support herself? what if she looses her hearing? what if the next sign is that she slips into a coma and I have to say goodbye without watching her eyes recognize the smile on my face? I don't want to lose an ounce of my baby girl, and something is taking her from me. Every single day she is slipping further and further from my me.

I prayed last week for God to send Angels to comfort my scared little girl during her EEG. I believe they were there. I believe each and every time Annabelle is having a seizure, or cannot wake up, or is sedated or anesthetized for a procedure, I know with all my heart she is being wrapped in God's arms of comfort. The painful thing though, is that she is beginning to spend more and more time in God's arms than either of my kids ever have before. He is holding her more than my comfort wants to allow, and with that thought - I am standing in the middle of an empty dark alley wondering which way do I go. I want to fight like hell for my little girl and smoother her in my arms, all to myself and never share.. and on the other hand, I want to be at peace knowing that if she is anywhere, being surrounded by Angels is exactly where I want her to be.

I had to surrender this weekend. Thursday was so hard watching my baby girl undergoing an EEG that she just fought with everything she has against. Friday - perspective hit like a brick wall, the only thing I have control of for my little girl is her quality of life. If the good Lord above is going to take her, it doesn't matter if I find the best doctor, specialist, hospital, insurance, how much research, networking, tests, procedures, or how hard I pray - he will take her if that is God's will. I do not get a choice. But I do have control of life now, with my little girls in my arms, I have control over their quality of life until their last breath, whether that's in six months or they outlive me! It's my responsibility to my girls to give and fight for that for them. I will continue to push my hardest towards help for Annabelle to determine what is taking over her little body, but I will also push my hardest to do everything I can to preserve that smile on her face. I spoke with Dr. Konikoff Thursday sitting in the hospital, holding my baby girl in my arms as she woke up, I begged him to allow us to continue our Patch Testing for this week. In the grand scheme of things, finding a food for Annabelle to eat is on the very bottom of the totem pole in comparison to learning what is causing her body to fail - but to Annabelle, the ability to enjoy a dinner like the rest of her family is the most important, and right now, I am on 'Team Baby Belle'. Him and I spoke for a long time and discussed many things, but we finished our conversation with him telling me to come down Tuesday the 16th and we will move forward with Patch Testing. If the worst case scenario presents itself, and a doctor places a time frame for my little girl.. darnit, she will be eating her birthday cake! I just want to make sure she isn't going to have a complete allergic reaction to it in the meantime.. thus my reasoning for wanting to continue with Patch Testing.

Friday was difficult to get thru. It was without a doubt the hardest day I have had to struggle to make it thru yet. The tears started at 7:00am and they wouldn't stop falling until I pulled myself together at lunch. Reality was here. I needed to pull my head out of the sand from what all the doctors were telling me and face what was happening in our lives. I needed to shake myself and see thru clear eyes and take control of this roller coaster - more so than I was before. I need to look past each and every test to indicate what this could be and it's not, and see down the road at where we are working towards = Mitochondrial Disease. I needed to place myself in a different pair of shoes from this point forward, it was time to take off the old pair and suit up for the next ride we are about to step on.. not knowing yet what that might be, but preparing myself and my entire family for what's in store.

Saturday, AK and I had to have several very difficult conversations. While I had the determination and focus, him and I had to sit down and discuss every angle of Worst Case Scenario. What will our plans be? Just how far will we go if we get a diagnosis here in VA? Which hospital would we prefer? How much will we put Annabelle thru? What are we going to do about work? Finances? What will be our safe balance of happy life for our family? How are we going to make sure Madelynne is emotionally cared for, and how are we going to be able to explain what is happening with our family and her sister, on a level she can understand, will answer her questions and allow her to cope? Life Insurance on our daughter, we needed to re-verify our policies. It was difficult and I cannot say it wasn't handled without a bottle of wine! I am grateful it's finished though, I have all the resources in place, if / when (we pray we never) need to pull them out to use them. At least it's finished and was handled while I still had a clear mind and was not forced to face it.

Sunday we went to church. I decided in the silence of our car ride all the way there that I would give everything I had to my God that morning. I hoped I would be able to keep myself pulled together but I was realistic enough to know better than to apply mascara before leaving the house. A happy song, singing and clapping started to pull tears in my eyes, I knew it was downhill from there. I took Annabelle to the nursery and returned in time to hear the pastor begin to preach, to what felt like, directly to me. Every single word he spoke rang straight to my heart and how I was feeling inside. I broke down. We prayed, I prayed, I listened to others around me pray and finally church was wrapping up. Before closing we all sang and if anyone needed extra time for prayers and support from others, to come to the front of the church under the cross. Our friends in our hands, we made our way to the front of the church where we all held onto one another. In a tight circle, with the most beautiful music surrounding me and a church full sitting behind me, I held onto a perfect strangers hand and listened to him pray for my daughter and my family. The words each and everyone one of our 'family' and our dearest friends spoke, etched deeper and deeper into my soul of love for each of them. I poured my heart to my God and inside begged and pleaded for him to help me understand, and give me the guidance in this life to help my baby girls. And above all, please help heal my Annabelle Grace, she has so much love, joy, energy and life to give to this world - she will do this world so much justice and good, please heal her and keep her here with us!

God gave me Madelynne and God gave me Annabelle. God chose me, of all people to be her mommy and God chose AK to be her daddy. God has made Annabelle exactly who she is on the inside and out, and she has touched more people's heart and soul's than I could ever imagine. I am beyond grateful to be blessed to live thru this life and journey beside my little girl watching her bring joy, do wonders and touch more people than I ever could. God has a plan he is creating thru my beautiful baby girl, I do not know what that plan is quite yet, but I trust that with each and every step, he is carrying her along the way. I have to keep reminding myself of this, it's a hard and conscious reminder, but it's getting easier.


Today we are waiting for EEG results. We are praying they come back abnormal and provide us with answers or lead us in a direction that will not continue us down the path to explore Mitochondrial Disease. I am grateful for the weekend my family and I were blessed with and I am eagerly waiting to see what today's test results and this week has in store for us.

With much love, many prayers and a heart filled with humbling love for each and every one of you, thank you for all you have done and your continued prayers.