Diagnosis Day, A Year Later
Emma had been diagnosed January of 2001 with Complex 1 mitochondrial myopathy. Almost a full year prior to the date I had received the fax. I sat in the car and cried. There was such release, but once again, there was no joy in the discovery. Mitochondrial diseases are fatal. The thrill of the hunt was rewarded with a death sentence for my daughter. I think in the midst of needing answers, I hadn’t stopped to think about what those answers could possibly mean for her. Hopelessness, once again, took over. I went home and called my husband, he didn’t understand half of what I was telling him. He told me to call Dr. DiMauro, which I did immediately. Dr. DiMauro asked that the remaining tissue be sent to him, for further testing. When I told him what lab had the tissue, he informed me that he had trained that pathologist, and that getting the tissue would be easier than he had expected. He would take care of it personally, I didn’t need to worry. I was relieved, as much as I could be, considering the brick that just flew into our lives.
In the meantime, Emma continued to not thrive, continued to be acidotic, and continued to have no muscle tone. I awaited the results of the second set of tests from Dr. DiMauro before I pursued anything further for her. We maintained the best that we could. We were frequent visitors at the children’s hospital, Emma had become quite the popular kid on the 6th floor. It made things easier for me to see how much everyone loved her. I was still numb.Dr. DiMauro called, to let me know that he had received the results of the tests. Emma also had Complex III, I was devastated. I experienced every emotion at the speed of light. I was angry, hurt, confused but most of all sad because of everything that my daughter was going to have to go thru. Mitochondrial Disease patients are not usually candidates for transplant, due to multi organ involvement. Emma would not have been transplanted had we known in advance that she had a mitochondrial disease. That haunted me. It was a blessing and a curse. I was so happy that my daughter was still here, but part of me wondered if it was cruel to have transplanted her, given what life would be like for her having this disease. I couldn’t second guess myself, all I could do was continue to be her advocate. It was time to search out doctors who could help, she at least deserved that.Over the next few months, we battled constant illness’. We did all we could to maintain a healthy balance for Emma. Between constant respiratory distress, weight loss, acidosis and muscle fatigue, life was not pleasant for her. We had no luck in finding a doctor to treat her, this disease was so rare that they were few and far between. Most of the treatment that we tried was found by me or her pediatrician, online. We started Emma on supplements. She began a daily regimen of CoQ10 and Carnitor along with her other transplant medications. She was on major doses of Bicitra to counter act the acidosis. She was receiving injections 3 times a week for anemia. She finally started to plateau, but she wasn’t improving. Standing still was not what I wanted for my daughter, so we pressed on, searching for a doctor to help us with Emmas care.
The Answer to Our Prayers
My husband and I had wanted to move back to our home town for quite sometime. An opportunity arose for us to make the move. I researched the local childrens hospital and walked away very impressed. This could be the place where we found the perfect doctor to treat this disease. We promptly made the arrangements to move to there in the fall of 2003.Upon our arrival to our new home city, Emma became sick. She was hospitalized for over a week due to respiratory distress and acidosis. During this time, we underwent a battery of tests and met so many doctors. Finally one of the cardiologists informed us that they had a geneticist who treated patients with Mitochondrial diseases. My heart stopped. I asked to have him consulted immediately. That evening we met with Dr. P, and knew right away that this was the answer to our prayers.
2 Years went by, and Emma finally showed the improvement we were all hoping and praying for. She was very developmentally delayed, but she was a fighter, and boy could she dance!
Starting Over, Again
TJanuary of 2006 proved to be a very trying time for our family. Emma was admitted to ICU New Years Eve, and diagnosed to be in heart failure again. Every test and biopsied proved that she was not in “normal” rejection and the doctors were stumped. After her 3rd heart biopsy, it was decided that she had coronary artery disease. She spent 4 straight weeks (only leaving once, and had to be life flighted back within 2 days after turning blue in church) in ICU.
The doctors informed us that there is no strong treatment for Transplant Related Coronary Artery disease. That the typical surgery (placing a stint in her arteries) would not work. Re-Transplantation was our best chance at a future for our daughter. Emma was worked up for the Transplant list, and is ready to go on it as soon as the time comes. Our hope is to get as much time out of her current heart as possible before putting her thru another surgery. We are aware of the odds, and have come to peace with them, as much as a parent can.
Emma was also diagnosed with Autism this year and is going to a special school that can meet her needs.
I know that one day, the Lord will call my daughter home, and I have come to terms with the fact that her time with us is limited, but I have also become able to enjoy the precious little girl that we have been blessed with. I cannot describe the roller coaster that our family has been thru, and continues to go thru. I can however describe the unfailing love of our Savior, and the unconditional support of our family. Despite our heartache and hardships, we have been blessed beyond our wildest dreams. There are still days that I am angry, hurt and wave my fists at God. But I also have come to realize that none of us are promised a tomorrow, and today is way to precious to waste on frivilous emotions. I look at my daughter, and I see the epidemy of Gods Love, and that gets me thru each day.
And I am still standing.