Noah is the son of George and Naomi Weber. Naomi has shared the story of their growing family in the Newsletter through the years. Daughter Lydia wrote a candid account of living with MSUD as a teenager for the fall/winter 1997-8 issue. Lydia (18) bakes low protein items for Noah (8), brother Benjamin (21), and herself - the three who have MSUD in their family of 10 children. (An older brother, with MSUD, died in 1982 at the age of 4.) The family is Orthodox Mennonite; they use a horse and buggy for transportation, hence Naomi's references to hiring drivers to take them a distance. Naomi refers to her husband George as Dad throughout this article.
In the early morning on November 16, 1993, our eleventh baby, Noah, was born. He was a chubby little boy who seemed very quiet and relaxed as he lay at my side. The first and second days slipped by. We kept a close eye on him as we didn't send a blood sample to be tested as we usually don't get results very soon anyway.
At fifty hours, I started to wonder as I noticed the baby looked upward and also bit me when he fell asleep while nursing. The next several hours, he still seemed quiet, and we still hoped. . . .
Then at bedtime that evening, Noah got his first high-pitched cry, arched his back, and we couldn't quiet him right away. I then mixed a high calorie drink and gastrolyte solution. He took a few ounces every few hours during the night and had no more crying spells. As we didn't have valine and isoleucine on hand, and no BCAA were mixed with his medical food, his valine and isoleucine went flat, and the leucine was sky high. He soon developed a bad rash around his mouth. We thought we could possibly send a blood sample on the bus going into Toronto.
So early the next morning (11/18), we took the sample and packaged it with some ice in a cup-size thermos. Dad drove the ten miles to catch that bus. At 4 p.m. the same day, we got the report. Noah's levels were up to 975 µmol/l already. By day six Noah was too drowsy to take all the formula. The blood test done that morning was 1480 µmol/l. I asked for valine and isoleucine, but it would take 24 hours to get it. We needed the supplements sooner. I realized we were losing out now. It was late evening, so we would wait till early morning to leave for the hospital in Toronto. We asked my brother Emanuel to put in an NG tube for the night. (He learned to insert an NG tube in his daughter with MSUD.) He and his wife Lovina fed Noah gastrolyte solution every two hours all night.
We arrived at the Toronto hospital at 7:30 a.m. the next morning. Noah had slept since 3 p.m. the day before, and he had a level of 1116 µmol/l. Valine and isoleucine were added to the gastrolyte solution in the NG pump. After 24 hours, the levels dropped to 875 µmol/l. The formula was no problem then, and Noah was our contented baby again.
Noah had only a few sick days, but nothing really serious until in August 1998 when he had his second hospital stay. He had fever, vomited, then got so tense and restless; he cried and held his breath - a slight seizure. He was on IV for 24 hours and then was himself again. He actually thought it was fun in the hospital with nice toys, books that talk, and a bed with buttons to press to go up and down. We felt quite lucky that the IV treatment helped so well and that it was not a long stay.
In the winter of 1999-2000, we experienced a very hard flu in the community - people were in bed for a week or so. And then Noah got it. On January 23, 2000, Noah had a croupy cough with fever. The second day, the DNPH was still clear; he took mostly fluids and ate low protein Jello. Then in the evening, he started to vomit. The suppositories we used didn't settle him for long, and he vomited again.
On the 26th at noon, Noah lay more quietly and stared; he didn't seem to respond well when we talked to him. He refused his drinks. Again, the decision had to be made: go to the emergency room in Wingham hospital. The nurse put in an IV, but not as fast as needed, and not enough calories. We waited five long hours to finally see a doctor. A doctor who didn't realize he had a serious case. He contacted Toronto and got the recipe for the high calorie solution. Then we were admitted and put into a small room on the second floor for the night. Noah showed no more ketones, but he didn't sleep too relaxed. Neither did we - an old lady who talked all night was a roommate!
The next day, Noah seemed to be the same until 7:30 when he had a seizure. That really concerned me - and his fever was up. The doctor called Toronto; the doctors there still felt his fever could be causing the seizures. Noah slept fairly well, but woke early. He was frightened of falling and was seeing eyes everywhere. I called our neighbor to bring Dad and the DNPH solution. The test showed Noah's levels were very high. All along Noah had complained of abdominal pain, which was also a concern.
Arrangements were made to transfer Noah to Toronto. His dad went along, and I went home to get some rest. In the evening, our son called to find that Noah was still having seizures and his levels were 1300 µmol/l . Besides regular IVs, he was given lipids and TPN. The next morning, Noah had improved only a little.
Friday, I went down to the hospital. Noah looked happier again, but still complained of pains in his tummy. He often asked to have it rubbed. Saturday, he was out of bed and started eating and drinking. The nights were wearisome with Noah jumping and crying as though frightened by a bad dream. I slept in bed with him to hold him down.
Sunday, Noah woke up sick again with high fever. More x-rays of his abdomen. His appendix was enlarged and dislocated. By evening, the doctors had made plans to remove the appendix Monday morning. Seemed our cloud wasn't past yet. The poor suffering boy, why the surgery? And Dad cannot come as he is down with the flu.
On Monday morning, Noah was much better and his levels were down to 600 µmol/l - and I thought we could go home! As Noah ran down the hall for his bath, I thought he must go to surgery in an hour. But Noah wasn't hesitant. He wanted the doctors to do something about his pain.
Noah bravely went with the OR nurse. My sister-in-law and I were taken to another room to wait for the doctor's report until we could see Noah in recovery. My brother came in Dad's place to be with Noah the next day. I had to leave Noah, weak, helpless, and sore.
In the following days, Noah improved steadily and was ready to go home on Friday. When the surgeon discharged Noah, he said he might never see us anymore, and I wished we wouldn't have to see him either! But as the year rolled around and March came, we found ourselves back in the same room and bed, and had taken the same route as last year.
Noah entered Wingham hospital with severe tummy pains and vomiting. After 48 hours of IVs and many calls to Toronto, we headed down to the Toronto hospital again.
Noah was vomiting green and black stuff; tubes were pushed into his stomach to draw the mess out. By Saturday evening, Noah started to seizure, then finally he was taken to surgery. They found scar tissue grown around the bowel obstructing ten inches which had to be removed. Noah's levels were up to 1100 µmol/l, so to be on the cautious side, he was put on the hemodialysis machine.
Early Sunday morning, our kind neighbor drove my brother and sister-in-law and me down to Toronto to see how Noah was and to stay with him for a few days. We found him in the Critical Care Unit, hooked up to all kinds of machines and IVs. He was taking three different antibiotics. The dialysis needed was fixed in his chest. He was drowsy yet from the anesthesia; when he was awake, his mind was in confusion from the morphine he was getting. He thought he was so hungry and thirsty. Of course, his stomach felt miserably empty with the suction tube in. I dampened his lips with ice water on a little sponge which he would almost eat. We tried to keep all food and drink out of his sight. (By Sunday evening, Noah's levels had come down, so he was moved back up to the genetic ward.)
Tuesday evening, I went home. Then Dad stayed with Noah until Friday when I came to be with him again. By Friday, Noah was taking small walks. We hoped he could start taking formula, but it made him sick to his stomach, which showed he wasn't ready for food.
On Saturday, the dialysis tube, through which Noah was getting lipids and TPN, fell to the floor when we were walking. The nurses got quite excited, grabbed him up and put him back to bed. The doctor was called. The bleeding soon stopped, but Noah's feedings were off. He was taken to surgery to put in a different line - one that would take thicker solutions. The doctor felt he wouldn't need to anesthetize Noah if I would keep him quiet in the operating room. The doctor said it wouldn't take long, but Noah was very worried and upset. He needed some coaxing and stories to finally relax as he was strapped to the table and covered up. And I was dressed like a surgeon myself! Without being drugged, it sure didn't take long to put in a central line. The needle was now in his arm instead of the chest.
Noah seemed to improve after the second weekend. I felt I should stay to give him his feedings and meals. The hospital cook was not trained to prepare the special low protein foods, although they did mix Noah's formula. As it was, by the time Noah could eat, his levels were down so much, he could go right on his regular diet - Rice Krispies, potatoes, carrots, etc. How Noah enjoyed eating again after one and a half weeks with no food!
Wednesday, two weeks after being admitted to the Toronto hospital, we had high hopes of getting to go home. The surgeon was pleased with Noah's progress and discharged him. But the central line was still in Noah's vein. We waited to have it pulled out.
Our neighbor had brought Dad and our three school-age children down to the hospital to take us all home. We packed up all our belongings, Noah's teddies, and even a quilt. But to our great disappointment, when five o'clock finally came, the surgeon refused to pull the line out as Noah had been on solids only two days - he wanted to be sure.
Now what shall we do? I was so tired and listless from sitting around, I couldn't even cry. It was decided that Dad and I would stay with Noah. The children bravely went back home with our driver [their neighbor]. They were met by the rest of the family long waiting for us all !
Such is hospital life with so many doctors involved, but we were deeply thankful Noah was this far recovered, and we could easily praise God even in our disappointment. The next day at the hospital went better, and we went home on the evening bus.
We continued with weekly blood tests for a few months as Noah's leucine levels didn't go above 100 µmol/l even with 14 grams of protein a day. Noah's body was using a lot more protein to repair the wounds and build up the muscles which he lost lying in bed almost two weeks. Noah's hair got really thin, and he was afraid of becoming a baldy! Just three months after surgery, his levels were finally where the doctor recommended.
Noah enjoyed going to school after his long leave. He was promoted to grade two in June . I think his teacher sometimes finds it difficult as Noah gets distracted easily and can be so restless - he is in a class with four other little boys. We can only be thankful that Noah is able to run and has the energy after all he went through the past two years. What is ahead we do not need to know, if only we can in patience teach him and love him for the Lord...
The treatment described in this article is not necessarily standard treatment. Personal choices and hospital protocol do vary.