Marian van Schaik
First I'd like to introduce myself. I am Marian van Schaik. I'm married to Marcel, and our daughter, Kyra, has MSUD. At this moment we are expecting our second child and we already know that this baby does not have MSUD, which is a big relief. We are Dutch and lived in the Netherlands until May 1999. We moved to Auburn Hills, Michigan, last summer. I would like to share our story about Kyra with all the people who read the MSUD Newsletter.
On Sunday, October 26, 1996, after an absolutely perfect pregnancy, Kyra was born. She was a beautiful baby, and we were in seventh heaven. The only thing that wasn't going so well was feeding. Kyra just refused to drink and would keep her mouth tightly closed when we tried to feed her. But when we'd offer her a finger, it did show that her sucking reflex was functioning normally.
After three days, we noticed that Kyra would stretch her body - her spine in a hollow position and her head backwards - when changing diapers and dressing her. She was also moaning and crying with a strange, high-pitched voice. She would still drink only a few minutes at a time, and on Thursday (the 4th day) she wouldn't drink at all. Together with our midwife, we decided to call our family doctor on Friday morning.After examining her, he said he didn't know what was wrong with her and decided to call the pediatrician at the local hospital. The pediatrician said we could come in right away, and that he'd probably hospitalize Kyra.
After the pediatrician had examined Kyra, he said, "I don't know what is wrong with this baby, but it's not good at all." It turned our world upside down. In the meantime, due to being undressed for a while, (although under a red lamp), Kyra's body temperature had dropped to 95 degrees. So the doctor decided to put her in an incubator. It had to be kept quite warm (107 degrees) to keep Kyra's temperature from dropping again. She also had an IV because she was dehydrated, and she was being fed by a tube in her nose.
Because the pediatrician didn't know what was wrong with her, he collected some blood and urine samples from Kyra, and sent them to the university hospital in Amsterdam.By Tuesday evening, they could tell us the name of the disease our daughter was suffering from - MSUD. The only thing the pediatrician could tell us at that moment was that this is a metabolic disease, and that it affected the breakdown of protein in the body. Kyra was now nine days old.
The next day, Kyra, who was still in an incubator, was taken to the university hospital in Amsterdam by ambulance. I was allowed to ride with her, and, although I knew exactly how to drive to this hospital, I didn't recognize the route at all. At the hospital everything was prepared to put Kyra on a restricted protein diet. MSUD Diet Powder was ordered, and we were informed by a nutritional advisor as to what and how to feed her. From that moment, her meals were the MSUD formula mixed with water and just a little bit of baby milk powder equivalent to 2 mg of protein per day.
Ten days later Kyra's leucine levels were still very high, so the doctor decided to give her hemodialysis. She had to stay on the machine for two days, which finally brought her leucine value down to an acceptable level. In a few days Kyra's appetite was improving and she even started to cry if we didn't feed her in time. The feeding tube was removed, and we started feeding her by bottle. Finally we dared to hope everything would be ok with our little girl.
On December 2, 1996, Kyra came home from the hospital. She was fine for about two weeks. Then another problem arose; Kyra was anemic. When we woke up in the morning, I would touch her first to see if she was still alive, because she looked very pale. We went to see the doctor, and he decided Kyra needed a blood transfusion. This happened every other week. Between times, Kyra would do well for a few days then start vomiting after or during feeding
We'd wait for about a day or two to see if things would get better, and just when we decided this couldn't go on, Kyra would be back to "normal" for a few days.She also was developing a diaper rash that didn't go away. Whatever I tried, it seemed to get worse.
On January 14, 1997, Kyra was hospitalized again. She refused to drink her formula, and her rash was really bad now. It looked as if she had been sitting in boiling water, and she was in a lot of pain. Even her face, arms and legs were turning red, and the inside of her mouth was swollen.The pediatrician at first thought it was a virus, but the dermatologist could tell us right away that this was being caused by isoleucine levels that were too low. That meant we had to add isoleucine to her formula and go back to tube feeding her again. Although still on a feeding tube after two weeks of hospitalization, we could take Kyra home again. We all thought that, being at home, Kyra's condition would improve quickly. That was a big mistake.
Sometimes it took Kyra 1, hours to finish half of her bottle, which contained only 85 cc! Of course she still had the feeding tube, but we tried to use it as little as possible, because we thought it would be best if she'd drink as much as possible by herself. Things got worse and worse, and, finally, on February 6, 1997, we decided to have Kyra hospitalized again to find out why she refused to drink. She also was still anemic and needed transfusions.
This time Kyra was in the hospital for six weeks, and nobody could tell us why she was vomiting and still needed to be tube fed. All kinds of medications were being given to her, but nothing really helped. They even told us at one period of time that it was a psychological thing; the fact that Kyra never had a pleasant feeling when eating caused her to refuse food.
I won't bother you with all the little and big things that went wrong during that period of time, but I can tell you that our faith in, and respect for, the doctors in that hospital faded more and more every day. Finally my husband, Marcel, decided to contact the MSUD Family Support Group while on a business trip in the U.S. This was in the first week of March 1997. He talked to Joyce Brubacher, and he later told me how wonderful it was to talk to someone without any medical background, who completely understood what we were going through.
Joyce gave him the number of the Clinic For Special Children, and, much to his surprise, he could talk to Dr. Holmes Morton right away. From the little information Marcel could give Dr. Morton, he could tell Marcel that Kyra was suffering from malnutrition. This meant we needed to increase her leucine intake drastically.
Marcel called me right away to tell me about what he'd learned, and wanted me to tell the pediatricians in Amsterdam about this (we thought) wonderful news. To my big surprise, the pediatrician I talked to reacted very skeptical, but he was willing to give it a try. In less than a week her leucine/protein intake was increased more than 10 times, and we could clearly see an improvement. One week later we left the hospital. We felt that what was being done there for Kyra, we could do at home too.
After talking to Dr. Morton several times, we had so much confidence in him, we wanted to meet him personally. This soon became possible. Marcel had to go on another business trip to the U.S. by the end of March 1997. At first, Marcel planned to go alone, but Dr. Morton suggested he take Kyra and myself along. Fortunately, we were able (with assistance from our local doctor in Amsterdam) to convince our insurance company that this trip would be very important. So Kyra and I joined him.After his work was done in Detroit, (where we were kindly invited to stay with friends), we flew to Philadelphia and then visited the Clinic.
Dr. Morton had planned to hospitalize Kyra for three days in Lancaster for an MRI and to regulate her leucine intake. What struck me most was that, when we arrived on Wednesday, Dr. Morton said, "Tomorrow I'm going to take out that feeding tube!" And that's exactly what he did. By Thursday afternoon Kyra was drinking her formula by herself!
By that time, she was 5 months old and had been hospitalized a total of 13 weeks. Her MRI, taken immediately after we arrived on Wednesday, showed the brain development of a six week old baby, caused by not getting enough protein.
Although it took some time, everything went well. We decided, after talking with Dr. Morton and our doctor in the Netherlands, that Dr. Morton would be our consultant. The university hospital in Amsterdam would determine the amino acid levels, and fax the results to the Clinic. Then we would call Dr. Morton for advice on how to change Kyra's diet.
Kyra started to develop at a very rapid rate, and by the time she had her first birthday, she had almost reached normal development for her age. This was confirmed by Dr. Morton in his Clinic, on a visit in October linked to our vacation on the west coast. Kyra hasn't been hospitalized since, and is doing wonderful now. She is three years old and looks and acts just like any other ordinary child her age.
The decision to move to the U.S. last year, was greatly influenced by the fact that Kyra has MSUD, and that there is more knowledge about treatment here. To put that into perspective, the doctor who treated Kyra in the Netherlands had his last case almost 30 years ago. When Kyra was born, she was one out of three children with MSUD in the Netherlands.
I am convinced that if it wasn't for the MSUD Support Group at first, and, of course, Dr. Morton, who helped us through these years and still does, Kyra wouldn't have made it to her first birthday.