Our family first learned about MSUD when our daughter, Louisa, was 6 days old. The day before, she had been admitted to Hershey Medical Center because she refused to nurse or to respond to us in any way, except for episodes of shrill crying and arching her back. We were so puzzled. What was wrong with our baby who had appeared so perfect and beautiful at birth? (As I had held her on my chest just minutes after birth, she had mesmerized us all by lifting her head and focusing on our faces and smiling at her Daddy's voice.) The doctors did not recognize the symptoms and were doing all kinds of tests to find the problem. Then the PA Newborn Screening program contacted the hospital with a preliminary diagnosis of MSUD. We were so thankful for the Newborn Screening that finally pinpointed the problem.
The hospital transferred Louisa that same day to Lancaster General Hospital to be under the care of Dr. Holmes Morton and Dr. Kevin Strauss, of the Clinic for Special Children. We soon received a crash course on MSUD and hope for a bright future for our daughter. We listened to stories of the first children who were diagnosed with MSUD – children who were brain-damaged and handicapped or who had died during childhood illnesses. We were amazed at the difference Dr. Morton's work had made in the lives of the MSUD children under his care. The technicalities of managing MSUD intrigued us. When we learned that our daughter's outcome depended on the kind of care she would receive, we determined to do our very best. We felt privileged to live close to the most experienced doctors in the world for managing MSUD. Louisa responded very well to treatment, and in five days we took home a baby who appeared perfectly normal again. True, she needed regular blood work and special formula, but she was bright-eyed and smiling, and that was what really mattered.
I remember distinctly that, during one of our lengthy MSUD discussions in Louisa's hospital room, Dr. Morton remarked casually that there is now a cure for MSUD. "There is?! What is it?!" If there was a cure, we certainly would want to do it. Our hopes fell when he replied that the cure is liver transplantation and that he did not really recommend it for us. At that time (summer of 2004), elective liver transplant for MSUD was relatively new. The doctors knew it cured MSUD, but was it a viable and realistic option for those with access to good care for MSUD? We dismissed the thought. It was interesting to know how it worked, but it was too frightening, too huge, too unknown for us to consider.
During her first year, Louisa flourished under the care of the Clinic for Special Children. She was the happiest baby our friends and family had ever seen. She grew and developed in all the normal ways. Her speech and fine motor skills were advanced for her age. We marveled at her every day. "She has a serious genetic disorder, and just look at her!"
The second year she continued to do well, but we began to realize just how difficult it is to control MSUD. She seemed to be very sensitive to even mildly elevated leucine levels and would become ataxic at 5-7 mg/dl. As she became older, she hallucinated very easily. The home DNPH tests were not at all reliable for her. Sometimes they would be clear even though her leucine level was 9 mg/dl. Many were the trips we made to Clinic to check her amino acid levels. They were always available for us any time of the day, night, or weekend to run a complete amino acid test in their lab, and have results within 30 minutes. At 18 months old, she was hospitalized, for the first time since birth, with Rotavirus. Her leucine level was 10 mg/dl, and she was very dehydrated from vomiting and diarrhea. She recovered very quickly and was discharged in four days, completely back to normal. We were so grateful to Dr. Strauss who managed her hospital stay with the expertise necessary to give our normal child back to us. We wondered why anyone would put their child through a liver transplant. Wouldn't it be much easier to move close to the Clinic for Special Children?
At not quite 2 years old, Louisa was hospitalized again with a leucine level of 17 mg/dl. We thought she was recovering from a stomach virus, when her leucine level spiraled out of control. The whole experience was scary for us and left us shaken in spite of the fact that she needed to be hospitalized only a little over 48 hours and seemed to be her perfectly normal self after a good night of sleep in her own bed. We realized just how serious common childhood illnesses can be. Several months later, we were still discussing that hospital experience with the clinic doctors. I asked Dr. Strauss what we can learn and what I had done wrong that she needed to be hospitalized with just a common virus. I did not want ever to repeat that horrible experience. I kept reliving the desperate attempts to get formula into a child who was vomiting and our conclusion that her leucine level must not be that high because she wasn't ataxic or hallucinating. I wished we had gone to the hospital sooner… Dr. Strauss said, however, that her hospitalization was not because of a mistake I had made, but because of the nature of MSUD. "MSUD is unpredictable and uncontrollable. We are humbled by the disease." That was not what I wanted to hear! I wanted steps 1, 2, and 3 for the next time. I wanted to be able to control her MSUD.
Wesley and I were both trying so-o-o hard to give Louisa the best! I lived with the constant fear that, in spite of our very best efforts, she could die or be brain-damaged. Dr. Strauss suggested that liver transplantation may be something we should consider, to eliminate the risks and stresses of MSUD. He explained that the fluctuating leucine levels affect the availability of other amino acids which the brain uses to produce neurotransmitters. (We well understood the constant fluctuation of the BCAA levels in spite of our best efforts. We checked her amino acid levels nearly every week, adjusting her diet and formula accordingly.) These imbalances have both immediate and cumulative results, including hyperactivity, irritability, difficulty concentrating, and childhood depression. Dr. Strauss invited us to a Liver Transplant Symposium in Strasburg, to hear from the Pittsburg Transplant Team as well as the Clinic for Special Children.
We were already beginning to understand why other families were choosing liver transplantation. Was it something we should consider? We decided we wanted to learn all we could. Louisa was not quite 3 years old when we attended the symposium. We came away thinking about Louisa's future. She was doing well today, but would she be the same tomorrow? We had seen enough during her last hospital stay to realize just how dangerous elevated leucine levels can be. She had obviously had some brain swelling, which could have been devastating. Wesley and I both agreed that if something serious ever happened to her during an MSUD crisis, we would tend to feel it was our fault. We would feel we should have gotten more formula into her, checked her levels sooner, taken her to the hospital sooner… We would wish we had done liver transplant instead of assuming that she would continue to do well with MSUD. While we realized that something could also go wrong during liver transplant, we decided that we would still feel we had done the very best we could for her. As we weighed the pros and cons, we were gradually convinced that liver transplant really would give her the best future. We thought about school and the difficulty we knew she would have with concentration on days that her BCAA levels were imbalanced. It was inevitable no matter how carefully we tried to control her MSUD. Even though Louisa was not inclined to hyperactivity and had a well developed attention span, school still seemed like a huge thing with MSUD. Our minds could hardly stretch far enough to imagine teenage and adult life with MSUD. We understood that the diet becomes more restrictive after the body is no longer growing and does not need as much protein. A diet consisting largely of artificial low-protein foods could not supply all the necessary micro-nutrients and phytochemicals available from real foods, even if it included the best of formula. If no other options had been available, we would have had hope that she could live with MSUD, accepting it and taking responsibility for her own care in the future. However, since transplant was an option we needed to consider it and make a decision.
Even after we realized that a liver transplant seemed to be the best option for Louisa's future, we still had many questions. What really was life like after transplant? Would we just be trading one set of problems for another? We talked with other families who had done it. We wondered about the anti-rejection medications and their side affects. Medications scare me, so this was a difficult one for me to work through. I needed to evaluate the daily stresses of living with MSUD and weigh them against what I could learn about life after transplant. I did finally conclude that life-long medication is easier than formula, fluctuating amino acid levels, and the "brain" risks during illnesses. And most MSUD patients do need to take medications sometime. Wesley found it easy to look at the facts and make the decision quickly. I was stalled with doubts and fears… To choose liver transplant was choosing trauma. I had to be sure it would be worth it to put my child through something like that. We really appreciated Dr. Strauss's advice. I quote his exact words, "Whatever you decide, be certain that you are unified and committed in your decision. Either path, continued dietary therapy or liver transplant, is likely to present trying times ahead. During such times you will naturally question your decision, and will need each other's support to endure."
Another big question in our minds was the cost of transplant. Since we, for religious reasons, do not carry insurance, where would the money come from? We are part of a strong church brotherhood who believes in helping each other in times of crisis. Would it be right for us to choose to transplant and depend on others to pay the bills? Wesley gave several talks about the decision we were facing to get input and advice from our family and church. We heard only support for going ahead. And really, an MSUD crisis could cost just as much. And what would we have gained?
Even though Louisa was only 3 at the time of our decision, we did feel it important to explain transplant to her. We explained the two options: keeping on with MSUD – drinking formula, eating special foods, not feeling well when levels were imbalanced; or liver transplant – the doctors would cut her belly and take her liver out while she was sleeping, she would need to take medicine for her liver but wouldn't have MSUD anymore. She immediately said she wants a liver transplant. Soon she was giving her teddy bear a liver transplant, because he had been in the hospital with MSUD so many times before.
While we were trying to make our decision, a friend had said that when, and if, the time is right to go ahead, the doors will open. They were. The time seemed to be right. Now, before she faced any more serious illnesses. Now, before she was battling with school. Now, while her brain was still young and developing.
As if to clinch our decision, Louisa needed to be hospitalized again. She was vomiting so badly that she gagged if anything touched her tongue. A trip to the clinic showed her leucine at 9 mg/dl. Since there did not seem to be any hope of getting it down with formula we went straight to the hospital. She was on IV for about 6 hours when her temperature suddenly spiked, and she complained of pain in her right side. The nurse called Dr. Morton, and he came to the hospital immediately. Within an hour, she was in surgery for appendicitis. She recovered rapidly and was discharged in less than 48 hours. We were so grateful to Dr. Morton who realized the urgency of immediate appendectomy, which prevented a ruptured appendix and a dangerous infection. We called Pittsburg that very week to start the process for a transplant evaluation. Louisa later had another hospital stay for strep throat, making 5 MSUD hospital experiences before she was five years old. She also had several other stressful illnesses that we managed at home.
At the liver transplant evaluation, we learned details of the actual transplant procedure. This was a major step in putting my fears to rest. The mind views unknowns as huge. I had seen the huge belly scars of other transplantees. All I could picture was the knife. It seemed like such a horrible thing to choose for my child! Yet as the steps of the actual surgery were explained, and we were shown exactly how and where the liver is attached, it did not look so huge. It really sounded so simple, especially from a team who calls it an everyday procedure. We were shown pictures of how transplant patients looked right after surgery, and again it looked like an overwhelming tangle of tubes and wires. Yet when everything was explained, the unknown was removed and we felt prepared and reassured.
We waited 8 months after being listed with UNOS. Louisa was very excited about the prospect of getting a new liver and went smiling into the OR on May 29, 2009. Even though she had a very difficult recovery, spending 7 of the first 9 weeks in the hospital, we in no way regret our decision.
During that difficult time, we clung to the hope that someday we would look back and say it was worth it all. And we do. Louisa has done very well ever since we came home 2 months after transplant. She is so happy to have a new liver. She was able to donate her liver to a boy who had liver cancer, and our families will be connected for life. She has a hearty appetite for all her new foods. She loves the freedom from formula. For myself, I cannot describe the feeling of no worries about amino acid levels! Her care truly is easier than we have ever known. The stress has finally lifted. Even though she may face rejection or other issues, we know it will not compare with MSUD illnesses. We are grateful to the wonderful transplant team at Children's Hospital of Pittsburgh. Most of all, we are grateful to God who has guided and blessed our lives so richly through all our experiences with Louisa, working out all for good.
I could write so much more, especially about our actual experiences. Please feel free to contact us. We will gladly answer anyone's questions. You can call or fax us at (717) 866-6921.
Wesley and Sheryl Leinbach and family Rachel (8), Louisa (5), Ruby (2)
Making the Decision to Transplant: Our Family's Perspective