Edited by Joyce Brubacher
We, John and Verna Burkholder from Fleetwood , Pennsylvania, are the parents of 12 children, 6 with MSUD and 6 without. Their names are Erla (23) with MSUD, Wilmer (22), Michael (20), Lowell (18) with MSUD, Lavon (17) with MSUD, Norma (16), Duane (14), Aaron (12), Jerome (9), Luann (8) with MSUD, Joseph (5) with MSUD, Gracetta (2) with MSUD. So, as you know, dealing with the disease and diet have become part of our lives. I have read many MSUD stories and my story is similar to the others.
The disease was new for this area, for us, and for the doctors, when our first child Erla, was born. She arrived on a Wednesday, January 23, 1985 at 7 a.m. and weighed 7 lb. 8 oz. It was a normal birth, and she was a very contented baby. She even gave us a few smiles before things started to reverse.
On Saturday, I decided she was not a contented baby after all. Sunday she started taking less nourishment and was fussy. Sunday night was a night not to be forgotten. Erla had a seizure about 8 o’clock which really scared us. At the time we did not know it was a seizure. Then she seemed alright but slept poorly that night.
Erla seemed very listless in the morning, and we had the midwife come to the house - she is also our nurse. She said if Erla didn’t eat all night, she should be screaming from hunger. Erla just lay on the table hardly noticing the nurse. When she clapped her hands by Erla’s ear, she did not react to the sound. So she made arrangements to take her to the hospital in Reading. On the way down, Erla continued to have seizures. All day long we answered questions, and they took tests. It was very taxing to see our baby being jabbed again and again, especially since I had hardly any sleep the night before. We also started feeding her Similac with a bottle because it seemed to go better than nursing her. She took the bottle throughout the day and continued to have seizures once in a while. In the evening, they started tube feeding her. We left for home with still no answers.
I am writing this from memory, so I am not sure whether it was that evening or the next that a nurse at the hospital attended a seminar in the evening where they mentioned MSUD. This started them thinking Erla might have MSUD. The Reading hospital couldn’t handle this disease, so she was transferred to Hershey Medical Center. Unknown to us, they couldn’t handle it there either. So she spent a day in Hershey where they ran more tests, and, yes, she was jabbed some more. We got a glimpse of her in her incubator which still stands out in my memory. Erla had no clothes on and had wires and tubes everywhere! We left for home then as there was nothing more we could do. I don’t remember exactly when or at which hospital the final diagnosis was made.
That same evening we got a call from the Children’s Hospital of Philadelphia (CHOP) asking for permission to transfer Erla by ambulance because Hershey did not have the equipment to treat MSUD. So Erla was sent to the third hospital for that day. I am not sure when she went into a coma, but by the time she was in Philadelphia, she was in a poor condition. She was put on a ventilator and given medicine to control her seizures.
Erla had a long road to recovery and the doctor warned us about the possibility of brain damage. If I remember correctly, her highest leucine level was 78 mg/dl [5945 µmol/l]. She looked so sickly, both our parents came with us on the next trip to the hospital to help us make decisions as to what was best for her. By the time we got to the hospital, Erla had made the decision for us. She had made a turn for the better, and it looked more promising. I don’t remember to what extent she had improved, but our hopes and spirits were lifted. They used dialysis to reduce the leucine levels. She was in the hospital a total of 3 weeks, and was released when she was 4 weeks old.
All in all, Erla is a hardy girl who rarely has the flu and has had no hospitalizations since that first one. She did have bad baby teeth that were fixed as an outpatient at the age of 2. She sat at 6 months and walked at 13 months. Her speech was delayed, and we sent her to Head Start for 2 years when she was 4 and 5 years old. She was in Special Ed. in our local Mennonite school until she finished the 8th grade at the age of 15. Reading was her easiest subject, and she got to a 6th grade level in that. Her math was at a 4th grade level when she finished school. She is our helper at home and loves to wait on customers in our greenhouses and roadside roadside market business. She uses the cash register and adding machine. She is also our cook and baker. Erla mixes all the formulas for herself and her 5 siblings with MSUD and sees that the younger ones drink it on time. I really miss her when she is not here for the day. In the winter months she sews comforters for Christian Aid Ministries to distribute to the poor.
Our second child is Wilmer, a healthy son born 11 months after Erla. At the age of 13, Wilmer started limping slightly and held his foot at an odd angle when biking or pushing something. To make a long story short, he had hip surgery at the age of 14 due to slipped hip joints. They put pins in, and he was out of school for a few months. He is now 22 and married.
Two years later Michael was born. He is employed by a local farmer. Twenty months later, Lowell was born and his brother, Lavon, was born 13 months after Lowell. They both have MSUD. They were tested at birth and did not need to be hospitalized. They had a good start and liked their formula. (We have not had any problems with our children accepting the MSUD formula.) With early treatment, they grew up much like normal boys. Lowell had a harder time with school lessons than Lavon. They both went to school until they were 15.1 Lowell’s leucine levels in his younger years had the tendency to be on the low side and Lavon’s on the higher side. We began going to the Clinic For Special Children in Strasburg when Lowell and Lavon were 10 and 11 years old, about 10 years ago. We are very thankful and feel fortunate to have the Clinic doctors, Drs. Morton and Strauss, from whom we have learned a lot over the years.
Lavon is a real farmer. Lowell, on the other hand, is an indoor person but also helps with the farm work. Lavon and Lowell both tolerate heavy farm work like any other farm boy. Lowell likes to work in our greenhouses and watch plants grow. His specialty is growing a variety of hot pepper plants. He sells the plants and peppers at our roadside market. You might also find Lowell in the kitchen cooking, especially his famous low protein donuts and chicken-like nuggets. He is left-handed and surprised his older brother Michael the other day when they decided to arm wrestle using their left hands. Lowell won.
So far, Lowell had 2 hospitalizations and Lavon 3. All of these were for the stomach virus except one of Lowell’s that was due to a fungus infection in his mouth. He had to be tube fed about a week until it healed. We tube fed him at home the last 3 days.
Next in the row is Norma who does not have MSUD. How we rejoiced when we saw this baby with a head full of jet black hair. But she also had something in store for us. At the age of one week, we noticed her head was growing uneven. We had the midwife take a look at her. She was alarmed and advised us to take her to a pediatrician. X-rays showed a closed suture. Norma was diagnosed with craniosynostosis. They waited until she was 6 months, and her skull was harder and easier to work with to have surgery. The surgery was done at CHOP where our three older children with MSUD were cared for at that time. They shaved her whole head, and she had an incision from ear to ear. Her head was swollen to nearly twice its size. She was in the hospital 3 days. It didn’t seem to bother her and healed up fast with no after affects.
After Norma, we had 3 boys who did not have MSUD, Duane, Aaron and Jerome. Our last 3 children have MSUD, Luann, Joseph and Gracetta. We had Dr. Morton for our doctor for these last three children. I used breast milk for their source of protein. It worked well, but I had 2 big problems - finding time and privacy! I pumped for 4 months, 2 times a day, and that supply lasted for around 8 months by freezing the extra milk. Mother’s milk is lower in leucine than regular milk or Similac. I found it interesting that when the baby was in a growth spurt, it needed about half milk and half formula.
Luann (8) was a chubby 9 lb. 2 oz. baby, but she had 4 hospital stays in her first year of life. All were due to the flu. When she was 4 months old, she was very sick and had a seizure. She was hospitalized one week. Thankfully, she no longer picks up viruses easily and has had no hospitalizations since nor shown any damage from those early sicknesses. She is now 8 years old and in the 2nd grade. Luann is a little heavy for her age and always hungry.
Joseph (5) had one 24 hour hospital stay due to RSV. Gracetta (2) seems to take after Erla with no major sicknesses yet. One thing we learned was to add large amounts of isoleucine and valine to their formula as soon as they get sick. This helps tremendously to keep the leucine more stable.
Last Christmas we went to Ohio for two days. As you can imagine, it took a lot of careful planning and packing because we took all 6 children with MSUD along. My husband John’s niece is Mabel Martin. She and her husband Elvin live in Ohio and have a child with MSUD also, so they supplied some of the low protein food which helped a lot. John also has 5 brothers and one sister in Ohio, and they know pretty well what the children can eat. So they had a feast of low protein foods every day. Joseph caught a virus while on the trip, so we did have to straighten out his levels when we got home.
Yesterday, our Luann was looking at a bottle of corn syrup. "Mom," she said, "this corn syrup has zero grams of protein and it is corn! Corn is her favorite food, and it is too bad she can have so little of it. Like I mentioned earlier, we have a roadside market business, and sometimes we wonder if we shouldn’t be running a potato chip factory or a low protein noodle factory the way those disappear around here! But we are thankful there is a much greater variety of low protein foods available now than there was years ago. Our thanks to all the parents who come up with new recipes. Cooking never was my number one interest, so you can imagine that cooking two separate meals for every meal was very challenging for me.
It is time for routine blood check-ups with a finger-stick again. It is easy to push off when they are all doing well. So our normal life continues, thankfully, with many more good days than bad. We could complain that the roses have thorns, or we can rejoice that the thorn bushes have roses. Now you all take care and have a good summer.
1 Pennsylvania law states that children on a farm who attend a parochial school may quit school at 15 years of age. John’s family belongs to the Old Order Mennonite church group who prefer their children do not seek education beyond the 8th grade. They teach and train their children at home. Special educational arrangements are provided for those who are through the 8th grade and are not yet 15.
The Burkholder Family Story
- Written by Verna Burkholder