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THE
EFFECTS OF METABOLISM IN INFANTS Written
by Len Stauffenger, Esq. Tracy Lawson* was born a health baby girl. Mother and child were discharged from the hospital “doing fine”. There were no complications with the birth. There were no problems with the pregnancy, labor or delivery. Mom and Dad went home with a healthy baby. Tracy is now 6 years old, a cute little girl, but she is mentally retarded. Tracy has brain damage that occurred in the first few weeks of life and it’s permanent. Tracy will never be able to take care of herself or hold down a real job or have a family. Tracy’s brain damage could have been avoided if she had been given a simple, inexpensive test. How could this happen to a “healthy” baby? Tracy was born with a metabolic disorder. Specifically, an inborn error of metabolism. When Tracy got sick (at the age of just three days old), her parents took her to the emergency room where she was admitted to the hospital. However, her doctors failed to diagnose the metabolic disorder for several days. As a result Tracy nearly died and her brain was permanently injured. The real tragedy here is that Tracy’s brain damage was avoidable; it did not have to happen. Her metabolic disorder is treatable. With a prompt diagnosis and proper treatment, she would today be a “normal” child. The treatment is simple: a low protein diet and a pill or two a day.
Although each individual inborn error of metabolism is rare,
some estimates claim that inborn errors account for as much as 20%
of disease among full term neonates.
It has further been estimated that inborn errors of
metabolism may occur in 1 out of every 5,000 live births.
Pediatrics in Review, Volume 11, #7, January, 1990 by
Jewell C. Ward, M.D., Ph.D. WHAT ARE INBORN ERRORS OF METABOLISM?
We all ”metabolize” food and drink. In layman’s terms, we “break it down” into good “stuff” and bad “stuff”. The good stuff we all know about, vitamins, minerals, etc. The bad stuff is just waste products and our bodies eliminate those waste products. When a child has an inborn error of metabolism, that part of their system that eliminates the waste is not operating properly. Doctors sometime refer to the metabolic pathway as being blocked. In many of these children their specific problem is the inability to get rid of the waste product ammonia. All of us have ammonia in our blood at certain levels but beyond this “normal” level ammonia can become toxic. It circulates in the blood and slowly poisons the brain. This process initially causes the child to become lethargic. If the condition is not diagnosed and treated, the child’s condition deteriorates from lethargy to coma to death.
WHAT ARE THE SYMPTOMS?
In Tracy’s case her birth history was unremarkable, in other words, her mother had no problems with her pregnancy, labor or delivery. Tracy’s APGAR’s were excellent (APGAR is the medical community’s way of evaluating the health of a newborn). Tracy was released from the hospital with her mother, doing well on her second day of life. That evening at home she became lethargic. Her mother was breast-feeding her when she spit up and after that did not want to eat. These are classic symptoms of an inborn error of metabolism. Of course, these symptoms could also be the result of other problems such as trauma, dehydration or infection. Since these symptoms can be caused by many disorders, how does a doctor know what treatment to give a child?
Doctors are trained to do a differential diagnosis. This is nothing more than a process of elimination. In other words, a process of listing Tracy’s symptoms and then doing tests to rule out those conditions which are most likely or most potentially harmful. In other words, Tracy’s symptoms could have been caused by infection. Most doctors would agree that infection is the most likely cause of Tracy’s problems but certainly not the only cause. Therefore, many doctors would immediately begin a broad spectrum of antibiotics and also attempt to “rule out” infection by doing a complete blood culture (a series of lab tests also known as a CBC). This so called CBC tests for many different types of infection.
While in the hospital Tracy continued to develop additional symptoms such as, a declining neurological condition, seizures or abnormal body movements, a rapid heart rate, apnea – which means a momentary pause in breathing. All of these are additional strong indicators that Tracy was suffering from an inborn error of metabolism. However, her doctors continued to treat her with antibiotics, even though the blood cultures came back negative.
HOW WOULD A DOCTOR KNOW?
Often, in medicine, the final diagnosis comes down to a lab test. A lab test more often than not, is a blood test. In Tracy’s case the lab kept looking for different types of infection in her blood rather than for signs that she had an inborn error of metabolism. Of course, the lab was only doing was it was ordered to do by the doctors in charge. What made Tracy’s case particularly tragic was that she was having blood taken virtually every day. The blood needed to diagnose an inborn error of metabolism is approximately a teaspoon full of blood. The test is inexpensive and at most major hospitals can be done in an hour or so. But the doctors involved must at least suspect an inborn error so that they can order the appropriate tests. In Tracy’s case, that test was simply an order to obtain her serum ammonia level.
Eventually, one of Tracy’s doctors ordered a serum ammonia test. The level of ammonia from the test results came back “high”. From that point forward the doctors knew that Tracy had a metabolic problem and they were able to initiate treatment even though they did not know specifically which metabolic disorder she had. At the same time they initiated additional tests so they could specifically identify her specific metabolic error.
Unfortunately for Tracy the delay in diagnosis caused her brain to be subject to high levels of ammonia for an extended period of time which caused mental retardation. Studies have shown that the longer a child is subjected to high levels of ammonia, the greater the brain damage they will have.
Some physicians have stated that ammonia levels should be obtained in all infants with altered consciousness and/or persistent vomiting which usually appear after 1-2 days of normal feeding and behavior. Inborn Errors of Metabolism of Acute Onset in Infancy by Jewell C. Ward, M.D., Ph.D.
Other physicians have stated that “a full term infant who becomes ill in the first few weeks of life is almost as likely to have a treatable inborn error of metabolism as he is to have a treatable infection”. Inborn Errors of Metabolism: Not Rare Not Hopeless by Arn, et al. 1988, Contemporary Pediatrics, page 52
Almost all states require that some metabolic test be performed on newborns before they are released from the hospital. Unfortunately only a small percentage of the known metabolic conditions are tested for. Fortunately, because of the efforts of many parents of injured children there are now movements in many states to increase the number of metabolic problems which are automatically tested for in newborns. Additionally, there are national organizations which are primarily driven by parents but also affiliated with physicians which promote the awareness of these disorders as well as legislation requiring testing which can save children from brain injuries.
Len Stauffenger is an attorney with the law firm of Amer Cunningham Co., L.P.A. located in Akron, Ohio. He is a certified specialist in civil trial practice by the National Board of Trial Advocacy. He has represented many brain injured children and their families. He can be reached by calling 330/762-2411, e-mail – stauffenger@amer-law.com, or visit his web site at http://www.amer-law-specialties.com/stauffenger/.
*The names in this article are not those of the actual person, they have been changed to protect the individual(s) privacy.
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