On December 19th we were able to have another EEG. These tests are not easy as she has to be up for 12 hours before hand and they are scheduled at 1 in the afternoon. But we were able to finish that and see the ENT doctor who confirmed she still had fluid in her ears. Since we were concerned about this affecting her hearing we decided that if she was to have any procedures done under anesthesia we would put tubes in her ears. If not we didn't want to take the risk for her.
On the 20th she had a repeat MBSS. The test was modified by her OT so she didn't take anything dry like chicken or use a sippy cup which is too fast. This disappointed me because this is her "real" life. Anyways the result showed she had a lot of residue in her mouth and required 3 dry swallows after each bite of food. She could also only take small drinks at a time and only sips after she was fatigued. It was recommended she stick to purees in the evenings when she is more fatigued. As I predicted this did not go over well with my independent 2 year old. She protested us trying to pace her to the point of refusing to eat. She continued to take less and less food and liquid until on the 27th the decision to place a g-tube was made.
This decision was not an easy one to come to. My husband and I struggled with it for days. But finally after fighting for 10 days to get her to drink just enough that she wasn't dehydrated and every meal ending in tears on her part as well as mine, we realized we did not really have a choice after all. We planned to start scheduling her tests for her work up as an outpatient.
On January 2 she woke up so wobbly she could barely stand. She had minimal urine and she was requiring her oxygen frequently. We called the doctor and she was admitted for dehydration. Once we arrived at the hospital we realized just how sick she had been at home. She was hypoglycemic and spilling ketones in her urine. This is a sign of her body burning muscle and fat for energy. Her measurements showed failure to thrive with muscle wasting. After a couple days on IV fluids she was feeling and looking great. Aside from the constant IV pokes she was enjoying her hospital stay. This was probably the best she felt in awhile with her constant glucose infusion.
On January 6th she was scheduled for surgery. We anxiously awaited her time in her hospital room. Thankfully Child Life was there to help Audrey as well as us. Finally off to surgery we went. Since we knew anesthesia would be difficult we planned to do everything she could need. She was scheduled for her muscle biopsy to confirm her diagnosis of mitochondrial disease, tubes for her ears and her g-tube. The anesthesiologist told us all the precautions and things they would change due to her diagnosis. Surgery was quick, about an hour and 20 minutes. Both of the doctors came out to tells us things went great and the recovery room would come and get us as soon as she started to wake up. My husband and I sat in the little room waiting and watching other families come and go. We waited and waited...after an hour we were getting nervous. Finally after an hour and a half the bring us back. There is our sweet girl arching off the bed screaming with a hoarse voice. I quickly pick her up and she goes limp and starts desaturating. They have us hold cool mist oxygen in front of her. The doctor tells us she has had some trouble waking up. She required and oral airway for an hour and then her blood pressure was very low so they had to give her some extra volume. They will not give any pain medicine until she wakes up more. So we sit and hold her. The hours pass and my husband has to leave to pick up her brother from school. Finally 4 hours after surgery, shes not quite awake but they decide she can go back to her room. Once we get up there she wakes up and now we have to fight to get her pain under control. She getting very small doses as everyone is afraid of how sleepy she may get. Finally after 6 doses of morphine she is able to get some rest.
The remainder of her hospital stay went very smoothly. She was able to tolerate the feedings however due to her pre op testing showing very delayed gastric emptying the decision was made to keep her on continuous feedings for awhile. Finally all of our ducks were lined up and she came home on January 10th. Now she walks around with her little back pack providing continuous feedings. She is still able to eat by mouth, however, she rarely takes more than a few bites.
On January 11th we finally were able to meet with her geneticist. This was a much anticipated appointment as he has a 2 year waiting list. The doctor spent a lot of time with us going over our whole family and each symptom Audrey experienced. He also confirmed her diagnosis. Though we knew this to be the case, a small part of us still hoped he would say, "No way she has this awful disease. There has been a big mistake." He stated he thought she's having "mini stroke-like' episodes which are what is causing her arm to go limp and the right sided weakness. He said she has a more severe form of dysautonomia which is causing her desaturations. Her nerves just don't seem to know when she needs more oxygen and when she doesn't. Aside from that, he could only say we hope that her disease regresses or is at least stabilized since she is one treatment. She will probably continue to experience more and more GI problems. He also said she will pass this on to any children she might have. I couldn't even respond to this as it is so far away I can't spear any brain cells to consider what this could mean for her future.
And now finally we have a day off. We have a few days to get used to our new reality of a g-tube and continuous feeding and oxygen and all the meds. Our house is beginning to look like a hospital with oxygen tanks, pulse oximeter, IV pole, feeding pump, cases of formula, and boxes of supplies. If this keeps her home with us and allows her to continue to grow and develop then we can live with this. If this lets her be a "normal" happy two year old full of life then this is our reality. This is what we hope for and think of. We try not to think about how much has changed in the last 6 months. We try not to think about how much progression she has experienced in such a short time and all the symptoms that are constantly popping up. Maybe her doctor is right and now that she is being treated things will get better. This is the beginning of the new year and we can only hope that it will be better then how it started!
