We are Carl and Sandy Kiel. We are parents of four children: Adam-9, Sara-7, Jenna-3, and Jesse-1. Our two youngest children have MSUD, so dealing with the disease and diet have become part of our lives. For those of you not familiar with MSUD - it is a metabolic disease in which the child cannot tolerate the branched-chain amino acids: leucine, isoleucine, and valine. MSUD differs from PKU in that it is so critical to detect in the newborn period to prevent brain damage and death. A child will get very sick very fast if not detected. MSUD gets its name because the urine smells like pancake syrup when levels are high. For someone who did not pay much attention in Chemistry and Biology, I have learned a lot!
Jenna is now three. She was born in 1991, the first baby to be detected by Newborn Screening in Michigan. Because our other children did not have the disease, we were surprised when informed that Newborn Screening showed our baby had MSUD. We truly believe it to be a miracle, because Adam and Sara were born before Newborn Screening began in 1987 and would not have had the advantage of early detection. In fact, Dr. Allen had told us that the state considered discontinuing MSUD screening, because they had not found any babies with MSUD previous to Jenna being born!
Dr. Allen confirmed Jenna's diagnosis and we started her on formula at 5 days of age. However, the newborn period is so critical and she was already showing serious signs; a high-pitched cry, fussy and irritable, loss of sucking reflex, and then, by 10 days, she was lethargic and nearly dead. We spent a week at the University of Michigan on TPN and she did great!
Jesse is now just one. I had an amniocentesis to determine if he also had MSUD. Carl and I, together with Dr. Allen decided to have the test to provide the best care for Jesse right from the start. He never had high levels his first year until his recent illness in March '94. We brought the formula along to the hospital. Doctors, staff, and nurses were all alerted and very careful. Many nurses would ask about MSUD and were very curious because they were familiar with the newborn screening and never heard the results of it.
Jesse has broken all the records - he weighed 10 pounds at birth and has now nearly tripled his weight! He is not just thriving - he is the picture of good health!
DIET: Jenna and Jesse are both on formula (MSUD Diet Powder) that they must drink each day. Both are very limited in their protein intake, about 4-5 grams per day currently. This has fluctuated with their health. Jenna has to be coaxed to eat and drink, Jesse eats and drinks everything! I write down every day what they eat and at night compensate with milk to reach the desired level for protein.
HOME MONITORING: Like many other families, once a month we do a home monitoring blood test on the blood card and send in 3-day diet sheets to have Dr. Allen check their levels. I also have them weighed at our family doctor and record this monthly.
URINE TEST: We also have a urine test, DNPH. Equal parts of urine and chemical are combined. If their keto acids are elevated, their urine gets cloudy. The degree of cloudiness correlates to the level of keto acids. I do this when I am suspicious of their actions, or if they are ill. With MSUD the urine has the sweet smell of syrup. In Jenna and Jesse, they are usually showing other signs and quite sick before I notice the syrup smell.
When Anna Marie, [the Keil's nutritionist], asked me to talk today about illnesses I just laughed, because I would panic and call her when the kids would get sick! But we are getting a little better at it - I don't panic quite as quickly, but I do still call her!
When an MSUD child has a common illness, it is often accompanied by high levels and serious signs of MSUD. Not counting Jenna's newborn hospitalization, we have had four major bouts with illness - three for Jenna and one hospitalization for Jesse. It happens about once a year. We are very careful of flu and ear infections. At the first sign of any symptoms I go to the local doctor to have it checked and treated. Jenna had recurring ear infections the last two years. The doctor keeps a close eye on her and has her on a maintenance antibiotic. The flu has been the most serious illness resulting in hospitalization.
When our children are sick (flu or infection), I watch carefully for these signs - they are in progressive order:
- Tired eyes - Jenna gets dark circles under her eyes and just looks exhausted at the first sign of any illness.
- Change in their behavior-reduced activity or grouchy and crying.
- DNPH test - I do this at the first sign of illness. The degree of cloudiness will increase as levels rise. The smell of syrup usually comes later for our children.
- Ataxia (loss of balance) - this can be slight, like not being able to sit up with the support of a hand or tripping a lot. Or it can be as serious as suddenly unable to sit or stand at all!
- Lethargic - very tired with little or no activity.
- Blood levels - these are taken during an illness and will show a dramatic increase in leucine levels. Often the child is well and looking fine and leucine levels are still elevated but drop dramatically.
These steps can progress very fast - this could all happen in the matter of a day or less!
Our family doctor checks for common illness and stays in contact with Dr. Allen. We hospitalize based on the child's behavior or need to go on an IV due to dehydration. This decision is made by our family doctor together with Dr. Allen.
When we hospitalize locally, there are a few things we have learned. The first is what Jenna needs and doesn't need. We try to eliminate unnecessary tests and procedures. They are listening to us!
The second thing is to have the doctors keep in contact with Dr. Allen. Our local hospital has worked well with him for the most part. We often are educating the resident doctor as to what MSUD involves, and we tell him what to do and what is needed. They ask many questions. We feel like we tell them what to do - we just don't have those Dr. initials!
The last thing is we learned is to speak up when we don't agree with what the doctors want to do. We know our child and the disease better than they do. We have learned you really are your child's best and sometimes only advocate!
During Jesse's recent hospital stay, I explained the home monitoring blood test to the doctor. He said, "So then you're are a nurse?" I said, "No, I'm just a parent who's been well educated."
I keep a journal for both Jenna and Jesse. I record each month's weight, blood test results, and food intake. When they are ill, I keep a detailed account of what they were like each day, what we did, and the blood levels and DNPH results. Looking back at the journals really helps me and I see similarities in their illnesses.
In some ways, dealing with MSUD has made a monumental change in our lives, and in some ways it's now just a way of life we take for granted. When Jenna or Jesse get ill, we are reminded of just how fragile their lives are. Adam and Sara have become experts in MSUD. They've explained it to all their friends and educated the neighborhood kids. At meal and snack times, we always try to give Jenna something similar to what we are eating, if she can't eat what we have. We try to make it no big deal and fit it into our lives.
I want to share one cute story. Vern Ehlers was the state senator from the Grand Rapids area. He introduced the legislation for MSUD newborn screening and helped to get it passed. When Jenna was born, we sent him a letter and thanked him for his work. This fall, when he ran for US congressman, his office called us and asked to use Jenna's picture and story in their campaign brochure. We agreed, and Jenna was so proud of her picture she would show everyone and point it out! We thought it was a really neat opportunity to share our story.
In closing, like many other families we feel we owe so much to Dr. Allen, Anna Marie, and all the staff. They have really educated us so that we know what we are dealing with, and that we are comfortable with it. They are always there and always supportive. They treat families with great respect and they are so dedicated to our children. Thank You!