The Beginning, Again
When Emma was transplanted, we sent her old heart tissue off to be biopsied. We still had no idea what had caused our daughters heart failure, nor did we know why she wasn’t thriving. Those test results came back, our daughter had Histiocytoid Cardiomyopathy. I spent the next few months researching this disease, but there wasn’t much info on it. There were only 60 documented causes that I could find, and most were diagnosed upon autopsy. Almost all included fatal forms of hydrops, and many were the result of Mitochondrial Myopathy. That was a term I had never heard before, so I dove in head first trying to find out exactly what it was. In the meantime, Emma was still not growing; she was eating like a champ, but not gaining any weight. She was instead, losing what little weight she did have. We, along with her doctors decided it was time for her to have G-tube placed. This was a huge step back for me, and took many weeks for me to come to grips with. After seeing her completely tubeless for months, I couldn’t cope with having to hook her up to yet another machine. I knew it was what was best for her, but I felt like it was such a defeat, a huge step backwards.
Emma started out eating regular formula. She was not gaining, so we slowly started increasing her Calories. By the time she was 10 months old, she was on 34 calorie formula. This was the highest caloric formula available, and she was still not gaining. She was receiving Physical Therapy 2 times a week and still could not sit up. Things just seemed to be stuck, and I didn’t know how to fix them. She started showing signs of acidosis. She would breathe rapidly (120-140 breaths a minute) and would become very lethargic. I had remembered in reading about Mitchondrial diseases that acidosis was symptom. I brought this up with her cardiologist but was told that this was not a concern, and I needed to stop reading the internet. I left his office feeling very defeated and helpless. I wanted so badly for someone to help me with my daughter, but I felt no one was listening, meanwhile, Emma was wasting away.
I began my search again online, searching symptoms that matched what we were going thru with Emma. I stumbled across The United Mitochondrial Disease Foundation, and read for hours. I was dumbfounded at how similar the symptoms were to my daughters. I contacted a mom who lived near me, and we talked for hours. It was so nice to finally have someone who listened to me, someone who understood. She informed me of some doctors that I needed to contact, one of which was Dr. DiMauro in New York. He could not treat her, but because he was a pathologist who had been one of the founding fathers of the mitochondrial disease, he could point us in the right direction. This would be one of the many contacts that would save Emmas life.I proceeded to do some research on Dr. DiMauro, and discovered that he was to be in Orlando for a Rare Diseases conference the next day. I promptly made arrangements to be at this conference and to listen to him speak on Mitochondrial diseases. I contacted Emma’s Pediatrician, who had been extremely supportive and cooperative regarding my search. She took the time that afternoon to go thru Emma’s charts and pull the pertinent information relating to her lack of progress, and all the tests that had been done up to that point. I went and picked them up later that day, and prepared myself for a face to face encounter with Dr. DiMauro. I didn’t sleep at all that night.The next morning, my mother and I drove to Orlando, with Emma. We sat thru the seminar, not really understanding most of what was being said. I did have some sort of understanding of the basics of the disease, due to my research prior to going to the seminar, so I wasn’t completely lost. Emma sat in the sling for the entire thing.When it was over, I promptly handed her over to my mom, and took all of her medical records to the front of the room. I approached Dr. DiMauro and explained our situation, handed him her records, and begged for his help. He was very nice, and very interested in her case. He told me that he was flying out of the country the next morning, but would review her records while he was gone and contact me when he returned. Upon his return, he called and informed me that the he was very intrigued with Emmas case and wanted to pursue it further with his colleagues. He also wanted to take it on for free. He asked me if there was any heart tissue remaining, I told him I would have to check. He told me that if there was tissue remaining, he would like for me to send it to him for studies. We agreed to stay in contact weekly for the time being.I contacted ACH to request the remaining tissue from pathology. I gave them information needed, and breathed a large sigh of relief. We were, yet again, at the beginning. But at least this time someone was listening. I waited patiently by the phone for Dr. DiMauro to contact me to inform me that he had received the tissue.
Emotions and Anger
The following week, Dr. DiMauro called. He had never received her tissue. I promptly called the pathology department at ACH. This time I asked to speak to the pathologist. We spoke briefly, he remembered Emmas case because it was so unique. I asked him if he could please make sure the tissue got sent out as soon as possible, he told me that a mitochondrial study had already been done on her old heart. I was shocked. I asked him if he was certain, and he told me that he was positive, because he ordered it over a year ago. I asked him if he could fax me the results, deep inside I knew he couldn’t. I would have to go thru Emmas doctors in order to get the results.Those of you who know me, know that I am not the most patient person in the world. I am very determined to get the results that I feel are owed. I did not feel that we should have to wait to get the results from her doctors, it had been almost 2 years at this point, and we had waited long enough. I researched until I found the lab in which the study was done. (The pathologist had told me that he had to order the test at an outside hospital, because it was specialized test). Once I found out the research hospital, I called the head pathologist. Buffalo Children’s Hospital in New York. I spoke with the pathologist, explained our situation, she also remembered Emma’s case. She informed me that not only did she have the results, but she also had remaining tissue left over, if further studies were needed. She told me that she usually would not give out such information, but if I would fax a medical release form to her from Emmas pediatricians office, she would immediately fax the results of the test. She was astounded that we had never been notified of results. Of course I was at the Pediatricians office immediately. The fax finally came thru.
Continued in next post