Thread: Our Story...

Peace

It was during the next few days that we planned her funeral, picked out her little white casket, and notified family members. Saturday we were scheduled to pick out her name plate. I woke up that morning with a peace that I can’t describe. I told My husband that I did not believe that Emma was going to die. He, being the wonderful husband that he is, lovingly supported me, knowing that denial is one of the many stages of grief. I looked him square in the eyes and said “No, she isn’t going to die”. We both agreed that getting a second opinion wouldn’t be a bad idea. From that point on, death was not mentioned in my presence.We scheduled an appointment with another Doctor in Orlando Florida. I am not sure of the exact date we met with him, but I remember the appointment like it was yesterday. He told us that Emma did not have Pompes, which her heart did not present as a pompe’s case, but he did not know what she had. He said that he couldn’t promise us a different outcome, but he did want to put me on Digoxin because it was thought to pass thru the placenta. He scheduled an amnio to rule out pompes (I remember thinking to myself, “Why wasn’t this done before?”). The amnio did rule out Pompe’s Disease, but left us with many unanswered questions.The odds for her being born alive were very low, but of course, as a mom, I held to that little glimmer of hope like nothing else. He told us that we had to get her to 34 weeks before we could effectively treat her outside the womb. He said she would need ECMO (heart lung bypass) if she did survive the birth, but his opinion was that she would pass before we got to that point. I asked him what we were looking at if she did beat the odds, I remember his exact words “Mrs. *****, your daughter will be severely brain damaged due to hydrops (fluid build up), for her, dying before she is born is not necessarily a bad thing, as much as it will hurt you”. I asked him if transplant was an option, he said no. I never asked why. He told me not to be heroic in her birthing plan, that it was unnecessary for me to undergo a c-section, and that we should sign DNR papers prior to her birth. We obviously disagreed.
My mother in law graciously offered to move to our state from her home to help with the other two kids during this uncertain time. She had just buried her sister, who died of cancer shortly before we found out about Emma. I am still, to this day, amazed at her willingness to help given those circumstances.
We decided that Emma should be born in Orlando, because that was where this Doctor was. We packed up our family and moved into our dear friend’s vacation home. We patiently awaited Emma impending birth. More so with fear, than excitement.My doctors visits became more frequent. We were at the children’s hospital weekly for a battery of tests. At this point Emma was receiving Echo Cardiograms 2 times a week in utero, to monitor any changes in her heart condition. I was admitted to Arnold Palmer Hospital for Women and Children at 27 weeks for permanent bed rest. By this time, Emma was almost 6 pounds, with over a pound of fluid on her body due to the continued heart failure, my amniotic fluid was abundant, and I was completely miserable at 240 pounds. The fluid build up in my uterus and on Emma was extremely alarming. By the 32nd week, the fluid was beginning to take a toll on my body. My ureters were blocked, my kidneys were backed up, and kidney failure was brought to my attention. I was urged to deliver immediately, but we had not yet reached 34 weeks, so my answer was no. I can deal with the pain, I had an obligation to my daughter, and it was a promise I was going to keep. We pressed on; marking the days off the calendar until my 34 weeks was over.

The Birth

The 34 week point came. The feelings I had were indescribable. Anticipation without excitement. Longing without Joy. Fear. I was scheduled for another Echo Cardiogram that day, along with a scan of my kidneys. Honestly, I was expecting to leave that appointment and carry Emma for a few more days, if not weeks. My kidneys disagreed. I was scheduled for an emergency C-Section. The rest is a blur, mainly due to drugs and blocking it out. I remember Mark coming from work, I was already on the table, and the drape was put up. I remember the nurse asking us if we wanted to sign DNR papers, and again we declined. It was awkward because you could tell the staff didn’t know how to act, some were acting like it was a normal delivery, while others couldn’t help but check on me and rub my arms every time they walked by. I just wanted it over, I wanted to face what was coming, and move on with life. This had taken away apart of me that I don’t think I will ever get back. Innocence was lost.The surgeon informed us that the incision had been made; he walked us thru everything he did. We had been told she wouldn’t cry when she was born, and we had prepared for our first meeting with her to be heart wrenching. We hadn’t really prepared for what actually happened.Emma proceeded to cry loudly. I honestly didn’t believe it was her that was crying. The surgeon said “Congratulations!” and handed her off to the NICU team. I remember the room getting really quiet as she stopped breathing. I remember them working on her for what seemed like forever, but was really only about 10 minutes. They ran her by me, but I don’t remember seeing her. I remember crying with Mark, and feeling hope for the first time in a long time. She was finally here. I laid there for what seemed like hours, all I could do was ask how she was. I kept asking the nurse “She was breathing, right?”. I probably asked her that 40 times. She gently smiled and answered “yes” every time. I am not sure how long it was before Mark was able to see her; they had to work on her for quite sometime. When he did see her and came back to me, he had a picture of her. I can’t describe it, seeing her for the first time. The fluid buildup was so much more than I had prepared myself for, and the tubes and cords covered every inch of her body, but I was mesmerized, this was my beautiful little girl . She had proven them all wrong.Over the next 2 weeks, many things happened. We went thru a rollercoaster of emotions. I spent hours by her bedside, stroking her little feet, holding her tiny hands. Singing to her, memorizing her. I didn’t know how to let her go. Daily something went wrong, and we prepared ourselves for the worse. I can’t describe how hard it was constantly watching your emotions go around and around. This was just the beginning of a very long and emotional journey. But we had made it to the beginning, and that was all I needed.



Continued in next post

The Transplant

When Emma was 2 weeks old, the doctor approached us and informed us that there wasn’t anything else they could do for her. I started crying, trying to come to grips with what I thought he was saying. He proceeded to tell us that he wanted to transfer Emma to a Transplant facility, because they could care for her on an extended basis. My world stood still, and I asked him to repeat himself. He told us that he had been in contact with a transplant facility, and they had agreed to take her, they just needed our approval so that transport could come and get her. There was finally light at the end of this tunnel. And an entire new set of emotions set in. I battled with not getting my hopes up, but I wanted so much to believe that this all soon would be over and she was going to be fine. The ambulance came later that night, and we were on our way.We arrived at ACH at about 2 am. We met with many doctors and nurses within the next 24 hours. Emma was placed in Level 3 Nicu, on life support. She started out on an oscillating ventilator, and weaned herself down to the regular vent. She never required ECMO, which to this day is amazing to all her doctors.We asked the transplant cardiologist, how long it would take to get her a heart. He said the average wait is 2 weeks for her blood type. That was music to our ears. We spent most days by her bedside, and the other times glued to the pager and cell phone. Emma waited almost 5 months on life support for her heart, in ICU. I spent every day with her, holding her, bathing her, singing to her. I, to this day, believe that the majority of the reason she is here, is because she knew she was loved, and had something and someone to fight for. I spent most days just gazing at her in tears. She taught me so much in those 5 months, things that I had no idea I was capable of learning.
We received 4 calls on possible donors for Emma, all of which ended up falling thru. The hardest thing out of all of this is bringing your emotions down after hearing that a donor has been found, and dismissed. On October 1, 2001 we received the call we had been waiting for. The transplant coordinator called us at around 1 am and informed us that there was a perfect match, and that Emma was going to be prepped for transplant surgery within the next 4 hours. That she had already been started on the immunosuppressant medication, and the heart had been accepted. We were at the hospital in record time that night.
We arrived in the NICU, and the nurses had dressed her up for us. We took so many pictures, and in the back of my mind I prepared myself, once again, for this to be the last time I saw my daughter. As I held her, the donor’s family became very heavy on my heart. While I sat there rocking my precious daughter, they were mourning the loss of their child. I held Emma and prayed for them, and cried. They were feeling the emotions that I feared. Because of their child’s death, my daughter would get a second chance. Somehow it didn’t seem fair, and I felt guilty for being excited for my daughter. I closed my eyes and fell asleep in the rocking chair holding her, I felt complete peace regarding what was about to happen. My daughter was going to be fine.The surgical team came down to meet with us. The surgeon and I had formed a great friendship during our 4 months at ACH. The staff there all new about Emma, and were anxiously awaiting “her day”. We talked about the possibility that she may not make it out of the OR, that they could remove her heart, and put the new heart in and it not work. We talked about what she would look like when she came out of the OR, and the protocol for visiting her in ICU. I kissed her head, and she was taken from my arms. We watched as they wheeled her down the hall. I spent the next hour clearing her space in the NICU, praying that I would have a space in ICU to put it all. More than anything, I wanted everything to be okay.

October 2nd-Emma’s Re-Birthday.

The surgery lasted about 4 hours. Everything went beautifully. Emma looked horrible when I saw her in ICU. She was so puffy and swollen, and her chest was bruised up from breaking her ribs and opening her chest. She, once again was covered in tubes and cords. The same emotions I had the first time I saw her after her birth flooded me again. We, once again, were at the beginning.We had never seen Emmas complete face, due to the tape and tubing that was sustaining her life. For 4 months, it was a part of her. I did not know her without a breathing tube. It took her 3 days to wean herself from the vent after her transplant. That was the most emotional day for me, I think. My daughter was living on her own, breathing on her own, sustaining her own life. We had a long road ahead of us, but at least now I knew she was capable of breathing. As odd as it sounds, it was my biggest fear thru all of this; she wouldn’t be able to live off the vent. Emma came home 14 days after her transplant. Life went semi back to normal for us, but something never was completely right with her. She was so frail, and fragile. We, for the first 3 months, blamed it on the transplant and the effects of 4 months in the hospital, but when she couldn’t sit up, or hold her head up on her own, we knew something was wrong. We had no idea that, once again, our world was about to turn upside down. We would soon be starting at the beginning yet again.



Continued in next post

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

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.

Wow thats some story. You are a strong woman. I know too well what it's like wanting to know whats wrong with your child. Alexis is 10 yrs old and we still don't have all the answers. They know she has pulmonary stenosis and reactive airway disease. They have no idea why she's so tiny she's 35 pounds and 39 1/2 inchs tall. She hasn't grown in 5 years. She's had a gtube since hse was 3.

Your story has touched my heart. I am sitting here with my son clenched to my chest asleep and I'm crying. You have one strong little Emma there and you are one strong family. Thank you soooo much for sharing your story. Looking forward to getting to know you.

wow that is really all I can say. you have been through so much. I am fighting back tears as we speak because so much of what you have gone through is so similar to what we have been through. Hunter has so many diagonosis's that is isn't funny. He also is not typical of what affects his diseases should have (does that make sense?) Hunter has small lungs, and a large heart, he has cardiomyopathy, and is in congestive heart failure. He needs a heart transplant but like you mentioned before since he has other organs that are affected he is not a candidate for one. In November of 2005 the doctors told us that he would not make it, his heart was in very bad shape, an ejection fraction of 17% dispite all medical things they could do. amazingly enough to all of his doctors he is still here and doing better than ever over a year later. We go back to the cardiologist on feb 14 and I am hoping for good news. last visit his ejection fraction was still in the 30's he is on 7 different meds for his heart the doctors say that his heart condition is life limiting and I am also in the same boat as you, hoping and praying that what they say isn't true and that my fighter will beat the odds. I have talked to another lady down is south florida that mentioned to me as I talked to her that she thought that hunter might have a mitocondrial disease based on what I told her about him but I have yet to take him back to a geneticist. He has had 2 chromosome studies that came back normal. Thank you for sharing your story it is beautiful and full of emotions and makes the reader really feel where you have been and where you are. I am going to add a link to hunters story in my siggy.

Angela,
I can relate to everything you just wrote. Emma's EF was in the 20s last January, but amazingly she is now in the 40s. She is on Carvedilol, Digoxin, Captopril, Lasix, and so many more. Luckily, we have beat the odds, but sooner or later we are aware that we will be faced with the second transplant.

Please feel free to ask me anything about mito and heart issues. Mito has played a HUGE role in our lives, and I know so many people who might be able to help you out. Our geneticist is amazing and I encourage you to contact him (PM if you want his name and number). I have referred many many kid to him, and he has never turned one down.

I am going to read your story in the morning- Emma is a bit off kilter right now. But please know that there are other moms out there who share your sorrow and struggle. We also share the beautiful stories of children whom have blessed our lives tremendously.

Be Blessed,
Heather

Heather, Thanks so much for sharing your sweet Emma's story.
I am wiping back tears as I type this. You and her are so strong. Her and your entire family will be in my prayers.

Wow! that is an amazing story! thank you for sharing, your family must be very strong at what has happen the past few years!

I'm sitting here at work with tears streaming down my face. I can't imagine what you are going through. Your daughter is such a fighter, I pray that God gives you an answer and a heart that will help your daughter continue her fight.
My heart aches for you and your family. I know that God won't give us a mountain we can't climb and your daughter is a climber.

I'm going to go home and hold my daughter, life is too precious. Thank you for sharing your story with us.

Wow....your story is amazing. I had tears streaming down my face as I read Emma's story. I too am praying that God will bless you and your family. Thank you so much for sharing your story....

Hunter is also on Carvedilol, Captopril, Lasix, Digoxin, Aldactone, Hydrochlorothiazide, for his heart, he is also on a calcium supplement. I would be interested in the doctors name and info. It wouldn't be the first time that we reached outside of florida for help. We had to go to Johns Hopkins in baltimore for Hunter neurosurgical issues.

Actually, he is in Jax

PMing you now..

Wow I was stuck on the screen and couldn't stop reading! Hoe heart renching. She is so beautiful too and you wouldn't know all that she went through by looking at her

dang I'm bawling here, thanx for sharing her story! Your family is definately in my thoughts!

Thank you. Jacksonville is even better!!! and I see that he takes my insurance yippee.

I am humbled by your story. Your daughter is just as blessed to have you as a mother as you are to have her. My God continue to watch over you beautiful little girl, and help you through the things you know you will soon have to endure.

Thank you for sharing your story. Your daughter is beautiful. For all our struggles with Andrew, I've never had to worry about his health. I read what some of you have gone through (and continue to go through) and I just cry. My heart breaks at the thought of living every day not knowing if your child is going to wake up the next morning. I know that none of us have any guarantees. I cannot fathom the strength it takes to endure the rollercoaster you're on.

I know you haven't been on for quite some time and I pray that things are still ok with Emma, but I just wanted to let you know that Hunter has an appt with your geneticist on Friday. Hoping and praying for some answers.

Wow, I just came across this-- I bawled...

I noticed she hasn't been on since Febuary so I clicked the blog in her profile
http://www.especiallyheather.com/category/brain-stuff/
Poor woman, I hope all is well with her!