NEWS & NOTES
Behavioral Studies
When parents of children with MSUD notice puzzling, abnormal behavior, it raises many questions. Is the behavior related to their metabolic condition? Do other parents notice the same behaviors? Do all children with MSUD manifest the same behavioral patterns or do the genetic mutation, the amount of damage before diagnosis, degree of metabolic control, protein deficiencies or other factors make a difference?
Hopefully, a proposed behavioral study will provide some insight on MSUD behavioral issues. Dr. Dean Danner from Emory University in Atlanta, Georgia and Wendy Packman, J.D., Ph.D. from San Francisco, California plan to do the study with the cooperation of the MSUD Family Support Group. The Support Group has given some initial financial support to begin the study. The doctors will soon send questionnaires to validate the results of an earlier study begun in 1996. No one is obligated to participate, but a quick and thorough response would be very helpful. Dr. Danner will report on the progress of the study at Symposium 2002 in July.
The study will use standardized child assessment evaluation forms filled out by parents and/or the affected individuals along with a companion form filled out by the child’s teacher to evaluate behavior patterns. The completed forms will be scored and evaluated independently by a Certified School Psychologist and a Clinical Psychologist.
The results of this study will provide the first evaluation of behavior patterns in these individuals. Their molecular genetic abnormality has already been defined by completed laboratory studies and the results of the behavior study will be aligned with their specific gene defect. The benefit will be felt most readily by new individuals identified with this genetic disorder. In addition, caregivers will be able to anticipate and therefore better manage the psychological needs of these individuals.
Notice of Changes
Notice some changes in the list of contact persons on the cover of this issue of the Newsletter. Sandy Bulcher is now listed as a contact person. She is very knowledgeable about newborn screening issues as well as a resource for any MSUD-related information for families and professionals. Her husband, Dave is our treasurer. They are accessible by phone, e-mail or regular mail.
Dawn Hahn is still available as a contact person, especially for families in Pennsylvania for family information packets. Her address will be changing in the near future.
The area code for Goshen, Indiana has changed. Be sure to change this on all contact information for Wayne and Joyce Brubacher. The area code is now 574. (However, the old 219 can be used until June.)
Art Award For Melissa
Melissa Berman, Peabody, Massachusetts, daughter of Bob Berman was recognized for her art talent in the Sixth Congressional District Art Awards. A student at Peabody Veterans Memorial High School, she was named “best of school winner.” Melissa, 20, has classic MSUD. She sold a painting of hers in December for the first time, and she received $60 for it. Melissa intends to pursue a career in art. We extend a hearty congratulations to her for her accomplishments.
Jessica Featured in Reaching Out
Jessica Berman, 17, is Melissa’s younger sister and also has MSUD. Bonnie Brien is Jessica’s “Big Sister.” Bonnie has been including Melissa in their adventures and even accompanied them to Symposium ’98 in Lancaster, Pennsylvania. The girls’ father Bob is thrilled that Bonnie is a “Big Sister” to Jessica and is pleased Melissa is included in many of their outings. (Melissa and Jessica’s mother died soon after Jessica was born.) Jessica is on the left in the photo above and Melissa on the right. Bonnie is in the middle—a good friend to both girls.
Jessica was named Student of the Month at her school in October 2001. Our sincere congratulations to Jessica. Keep up the good work.
SHARING
When the student becomes the teacher
As we all are well aware, having children such as ours requires a lifetime of attention-to-detail and a never-ending commitment to learn. For most of us, our children’s lives begin with us in shock and in a perpetual state of “what if I do it wrong”? We look to our doctors and the support group to answer all of the thousands of questions that arise from having a child with special needs. As time passes, and our children age, we develop a greater understanding of the care they require after experiencing illness, growth spurts, and the simply unexplainable fluctuations of leucine levels. In short, we the parents become the knowledge brokers to help facilitate the doctors and nutritionists ability to heal our children.
Like any parent, I am involved in all aspects of my son Jakob’s life, and I am always searching for new information on MSUD, genetics or anything applicable to his disease. I have developed a close working partnership with his nutritionist, Kathy Camp, at Walter Reed Army Medical Center in Washington DC. In light of our relationship, Kathy asked if I would be interested in presenting Jakob’s case, “a snapshot in the day of,” sort of thing, to a group of Dietetic Specialists at the American Dietetic Association Convention in St. Louis, Missouri, October 20, 2001. Since my husband and I are originally from St. Louis, and it was a chance to educate others as well, I put aside my fear of speaking in front of large groups and agreed. The specific class that I would be speaking to was titled “Applying Genetic Principles to Dietetic Practice.”
My portion of the class was twenty minutes—focusing on my perspective of MSUD and how dietitians can, and have been, helpful to my family and me. With this as my guideline, I chose to concentrate on the importance of the Nutritionist in helping to manage Jakob’s disease. (Have I said before that I am not comfortable speaking in front of groups of people?) I was very nervous in the days prior to the conference and rehearsed ahead of time what I wanted to say. My husband kept telling me that I could talk for hours on end, in intricate detail, about Jakob and MSUD. He said the most difficult part would be getting my point across in only twenty minutes. Still, nothing like being prepared. I practiced and practiced, I brought along pictures and I discussed the “tools of the trade:” formula, mixing equipment and scales. I also came armed with a handful of Newsletters and brochures courtesy of Joyce Brubacher!
Beginning to speak, it was hard to fight back the tears as I outlined the diagnosing process we went through with Jake. I realized that after two years I am still healing from that experience, and I have not fully worked through all of those issues. Next I spoke of the daily stress that we as parents live under and how much trust we place in the “professionals” that treat our children. More than anything, I wanted to convey to the attending nutritionists and dietitians the need to listen to the parents and for them to treat the patient, not just the disease. I wanted them to know that each child with MSUD is different and has their own specific needs from treatment. We as parents watch our children grow and observe the slightest change in behavior or even the onset of an illness better than anyone else. We are the advocates for our children and we must be included in their treatment.
It is daunting to show a group of educated, medical professionals that “thinking outside of the box,” by including parents with little or no formal medical training, is really in the best interest of the children. I know that I was successful due to the number of conference participants who approached me when the lecture was over. To a person, they thanked me for speaking, they asked more in-depth questions, and some of them were as misty-eyed as I had been when I first began to speak. Knowing that I was able to reach people and help them understand a complex problem, and knowing that they in turn will use that knowledge to the benefit of others with MSUD, helps me in my own healing process.
Jakob will be two years old on the 27th of January and my husband and I have learned much in that time. Like many of you reading this, we feel frustrated at times with family and friends who “just don’t seem to get it” when it comes to MSUD. Combine that with the misinformation that often gets reported in the news,* and we realize that we all need to be advocates. Each doctor, nutritionist or dietitian we make smarter is one less child that will be at risk because of MSUD. I may not get the opportunity again to speak in front of such a large audience about Jakob or MSUD. However, I will continue to learn what I can and I will share that knowledge with whoever should seek it.
—Susan Jasin
*An article in the St. Louis Post Dispatch, (1/6/02) reported on Dr. Hillman’s metabolic clinic in Columbia, Missouri and the simple “cheek swab” DNA testing done in his laboratory to detect the Mennonite mutation of MSUD. Some information in the article was inaccurate and misleading. It did a great disservice to the Clinic at the University of Missouri.
—Editor
An issue discussed in the MSUD eGroup was immunization for influenza (flu) each fall for children with MSUD. Kay Larsen shares information that has helped her as the mother of Maritsa, 24, who has classic MSUD. Maritsa is adopted and has neurological damage due to her early history. Maritsa has thrived under Kay’s vigilant care.
I always make sure that my daughter gets an influenza shot before winter—usually in October or November. It takes three to four weeks to build up antibodies after the shot is given. The shot should be given well before flu season actually starts.
I appreciated an article in a newsletter from the metabolism department at Children’s Hospital of Philadelphia, Pennsylvania.
It was written by Alice Mazur, RN, MS, CRNP, who was working in the department of metabolism at that time (1996). The article reads:
“Flu season is also coming. We urge you to have your child receive this year’s flu shot. Each year predictions about which flu virus will be most prevalent are made by experts at the Center for Disease Control. They provide that information to the pharmaceutical companies, who then produce and distribute them. We believe that your child should be protected from the flu, so that severe metabolic decompensation does not occur. Each year, some children become ill from the flu and require hospitalization. We would like to prevent your child from becoming ill and the flu vaccine is a good way of preventing illness. Contact your local pediatrician, family doctor or local health department about scheduling the flu vaccine. Most health insurance carriers cover the cost of the shot. Some children do not respond well to the flu vaccine. If your child has gotten slightly ill after the flu vaccine has been given in the past, there are some steps you should take.
Decrease the protein in the diet on the day of the flu vaccine. One-half of the total protein is usually sufficient.
Give actetaminophin for fever and/or discomfort. This may be given before the shot and then given every four hours after the vaccination during that day.
Give your child extra fluids and calories on the day of the vaccination. It is usually best to use the special metabolic product (formula). If your child is not receiving a metabolic product, use high calorie, low protein drinks and foods.
Call the metabolism division if you have any questions or concerns.”
I have used this advice for my daughter every year and she has not had any problems at all when receiving the shot. In addition, her regular doctor started out by dividing the vaccine into two doses instead of one—with a week or two between doses, just in case she should have a bad reaction. This requires two injections and two trips to the doctor, but is well worth it if you are nervous about giving the vaccine as I was initially.
The bad reactions that Alice talked about are usually (but not always) mild ones, consisting of soreness and redness at the injection site and mild fever.
Fortunately, either because of the vaccine or by God's grace or both, my daughter has never had the flu. And she has never had any bad reaction to the vaccine, probably because I follow these recommendations carefully.
Hope this information is helpful in some way. I would definitely urge you to show these recommendations to your child's doctor before you try them.
—Kay Larsen
FEATURED FAMILIES
Darren
Hildyard and Susan Carter with their son Joshua (Josh), The day Joshua was born was a very happy one, June 23, 2001. He was a healthy little boy and took to the breast straight away. All went well with feeding and everything seemed perfect. After about one week, Joshua fussed at the breast and seemed to have forgotten how to feed. We were becoming concerned about his feeding, and our baby Josh was losing weight. He still hadn’t regained his birth weight. Josh was put on the bottle as breast feeding didn’t seem to be satisfying him—at least we could see what he was actually getting. Josh started to scream all the time. He would sleep for about 10 minutes to about half an hour and then wake up. His body would go stiff when he cried, and his arms moved as if he were climbing a rope. We thought he had really bad colic. The midwife was becoming concerned and helped us as much as she could. We even took him to our doctor, and he seemed to think Josh was fine.
At two weeks of age, we received a phone call from a doctor from Elizabeth Hospital where I gave birth to Josh. He asked me to come to see him straight away. Once there, I was informed that Joshua’s Guthrie test had shown he had MSUD. Thankfully, South Australia has offered tandem mass spec acylcaruitine and amino acid profile newborn screening for the last two years.
This news was devastating: this beautiful little boy had a disease for the rest of his life. Why Josh? We were then referred to the Women’s and Children’s Hospital where we met Doctors Janice Fletcher and Michael Metz from the metabolic unit. Treatment started straight away and slowly, but surely, Josh changed from a screaming, irritable baby to a very contented baby.
The Metabolic team is fantastic; just seeing their faces when Josh is sick makes us feel so much better. We still have a lot to learn about MSUD, and some of the things we have already learned are pretty scary, but Josh has handled his first virus and immunization very well.
At first we didn’t like taking blood from Josh, but now it doesn’t bother him and is part of our regular Sunday night routine. Now we just remind ourselves that this is a necessary part of Joshua’s life. As Josh is only one of two people in South Australia with MSUD, there is little experience and only limited information on MSUD here. So we surfed the Internet searching for more. Thankfully we found the MSUD Family Support Group site. After reading all the newsletter articles on the site, we now have a better understanding of MSUD and what to expect in the future. Although not all the news was good, we know that it’s not all bad either, and we are better prepared for the days ahead.
We were very happy to meet Kym and his family recently. Kym is 15 and the only other MSUD case in South Australia. It was reassuring to see such a healthy, energetic young man with the same problem as our Josh, and to see he is doing so well.
Josh is now 10 weeks old and doing very well. He loves his bottle and is putting on weight every day and responding to us with big, beaming smiles. His progress is that of a normal, healthy, little boy with no apparent damage from the early effects of MSUD.
We are very thankful that Josh has such a wonderful group of doctors looking after him—not only that, but they look after us, too.
—Susan Carter and Darren Hildyard
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 [2001]. 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. . . .
—Naomi Weber
The treatment described in this article is not necessarily standard treatment. Personal choices and hospital protocol do vary.
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