We all want our babies to be healthy, to grow and develop to their full potential as children and adults. But sometimes a baby is not healthy.
Some children are born with genetic defects that affect one or more of the body's systems, such as muscular dystrophy (the progressive wasting away of muscles), certain mental disorders, and color blindness. Down syndrome is a genetic birth defect that often involves many of the body's systems, leading to physical problems and mental retardation.
Other children are born with genetic body chemistry disorders, such as phenylketonuria (PKU), which affects metabolism; cystic fibrosis, which affects the mucus-producing glands in the body; and Tay-Sachs disease, which leads to progressive neurologic deterioration and death at an early age. Some genetic disorders, such as sickle cell anemia, hemophilia, and thalassemia, affect the ability of the blood cells to perform their natural functions.
Sometimes an event within the cells when the fetus was forming altered the way the baby developed in the womb. A child may have genetic defects that affect the size or shape of the body or of various organs, such as dwarfism, spina bifida (in which part of the spinal cord and its coverings are exposed through a gap in the backbone), hydrocephalus (enlargement of the head as a result of the abnormal accumulation of cerebrospinal fluid), clubfoot, cleft lip or palate, and some congenital heart defects.
In other cases, the baby's genes may be perfectly normal but something caused damage while the fetus was developing in the womb. Perhaps the mother contracted rubella (German measles), which affected the baby's hearing or vision. Some babies are born too soon, before their bodies are completely developed. Sometimes an event in the womb or at birth causes brain damage leading to mental retardation or cerebral palsy (which affects movement and posture). Cerebral palsy, however, does not always involve mental retardation.
Some children contract a serious illness, such as meningitis (an infection or inflammation of the membranes covering the brain and spinal cord), within their first few years of life that causes hearing loss or brain damage leading to disabilities. Many defects show up immediately or shortly after birth or following an illness, but some problems may not be obvious until the child is several months or even several years old.
Severe disabling conditions, when not treated, may result in stunted emotional and mental development as well as physical problems.
What to Do If You Suspect a Problem
If this is your first baby, you may not wish to seem overanxious about your baby's development. Yet you may have some concerns based on what you've read about normal development or what you've seen other babies of your child's age accomplishing.
You spend many hours with your child, while your doctor spends only a few minutes at each visit. If you express your concern about your child as a general worry, your doctor may be apt to simply reassure you that the range of normal development is quite broad and that different babies develop at different rates.
When parents suspect a problem, they should write down their concerns. Try to think of as many examples as possible that illustrate a potential problem. It may help to keep a diary for a few weeks, in which you record the day and time when your baby is doing (or not doing) the things you are most concerned about. Also record what your baby is eating during this time. This may help you and your doctor detect important patterns.
Today, many people use digital cameras and video recorders to capture a visual image of the abnormal behavior. Your doctor can review this list, diary, or visual record and begin thinking about specific causes for the behavior you observe. Your doctor may first recommend that you wait and see if any changes take place. If your doctor suspects a genetic or disease-related problem, he or she may recommend that you see a specialist at the nearest children's hospital.
If your baby's overall development seems to be delayed, your doctor may recommend that he undergo an examination by a developmental pediatrician who specializes in infant development. If your doctor suspects that your child may have a neurologic disorder (a problem with the functioning of the nervous system), he or she may refer you to a pediatric neurologist.
If your doctor suspects seizure disorders, he or she may order an electroencephalogram (EEG), which records the brain-wave pattern for analysis. If hearing loss is suspected, an audiologist (a specialist in the field of hearing) may perform a brain-stem response study.
An ophthalmologist (a doctor who specializes in the diagnosis and treatment of eye diseases) may examine your child's eyes for visual function and for abnormalities. A physical therapist may evaluate such features as muscle strength and control, flexibility, balance, and agility. A psychologist may assess your child's personality and intellectual functioning, while a speech pathologist may look at how your child communicates to identify factors responsible for communication disorders.
If you have a question before or during the course of any testing or special evaluations your child is undergoing, be sure to ask for clarification. If you do not understand something that a specialist tells you, ask the specialist for clarification. If you still don't understand the answer, write it down and discuss it with your child's doctor. Do not be afraid to ask doctors to explain, and never sign a consent form without feeling sure that you understand what is to be done to your child and why it is necessary.
It can be a terrifying time when your baby is being evaluated for a long-term condition. Your doctor should understand that you might be feeling frightened, angry, or guilty or have other negative feelings. Don't be afraid to tell your doctor that you are feeling this way, so that your doctor may be attentive to providing you with information in a way that you can understand and accept. You may find that seeing a therapist or counselor -- either alone or with your partner or family -- can help you during this difficult time.
If your doctor has diagnosed your child with a handicap it can be a harsh reality to accept. In the next section, we will offer you some tips to help you reconnect with your child and adjust to your feelings.
This information is solely for informational purposes. IT IS NOT INTENDED TO PROVIDE MEDICAL ADVICE. Neither the Editors of Consumer Guide (R), Publications International, Ltd., the author nor publisher take responsibility for any possible consequences from any treatment, procedure, exercise, dietary modification, action or application of medication which results from reading or following the information contained in this information. The publication of this information does not constitute the practice of medicine, and this information does not replace the advice of your physician or other health care provider. Before undertaking any course of treatment, the reader must seek the advice of their physician or other health care provider.