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Fast Fact
Trisomy 13 (also called Patau Syndrome) occurs in up to 1 out of 5,000 newborns (Smith's Recognizable Patterns of Human Malformation, Saunders 1988).
The 13th chromosome contains blueprints that direct a baby's development in the early weeks following conception. When a child has an extra 13th chromosome (three copies, instead of two), as is the case in trisomy 13, the genetic messages are confused and contradictory. This results in multiple significant defects in major organ systems.
The brain is often the most severely affected. Most children with trisomy 13 also have some kind of heart defect. It's not unusual for these children to be born blind, deaf, and with no sense of smell. Children with trisomy 13 may also have abnormalities in the shape of their lips, eyes, ears, fingers, toes, and bones.
Trisomy 13 was first described in 1657, but four hundred fifty years of medical knowledge have not improved the outlook for children born with this syndrome.
Most babies who are conceived with trisomy 13 die early in gestation. Of the babies who live to be born, about 44 % die within the first month and 69% die by six months. Only 18 percent reach their first birthdays -- and these children tend to have severe mental defects and seizures (Smith's Recognizable Patterns of Human Malformation, Saunders 1988).
A blood test, called the AFP (alphafetoprotein) or triple screen, may help a pregnant woman find out her baby’s risk of several diseases, including Trisomy 21 (Down Syndrome) and Trisomy 13, though it can not give a definite answer.
Trisomy 13 is often detectable on ultrasound as early as 10 weeks. Chorionic villous sampling can detect trisomy 13 by 12 weeks. Amniocentesis, usually performed after 16 weeks gestation, can give a definite answer if any question still remains.
A trisomy 13 translocation is not associated with mom's age, but is a hereditary chromosome problem. The risk of recurrence in some types of (balanced) translocations can be quite high.
My son has had ear infection after ear infection. It's very hard for me to miss work to take him to the doctor. Is there any way I can determine myself that he has an ear infection? Should I buy a home otoscope and examine my son's ears myself? If I do buy a home otoscope, how can I learn to distinguish between a normal ear and an infected ear?
San Mateo, California
Clearly, I am in favor of parents having as much information as possible about their children's health (or else I wouldn't be providing this service!). Still, home otoscopes are a mixed blessing. With training, a bright red, bulging eardrum is difficult to miss, but many significant ear infections are much less clear-cut -- even with top-of-the-line instruments. You can obtain a home otoscope from a drug store or medical supply store for only about thirty dollars, but home otoscopes are of dramatically lower quality than the instruments your doctor uses.
It will still be important for your child's physician to have an ongoing view of your child's eardrums. The home otoscope may buy you some leeway on timing (allowing you to arrange your son's office visits around your work schedule if necessary). This decision would be excellent to discuss with your physician, to see how it fits with his or her management strategy for your child.
I'm the kind of person who would probably buy one if I were a parent (a non-doctor parent, I mean). Still, although some parents I know love their home otoscopes, most feel that they would have done just as well without.
Most home otoscopes come with a few pictures that can give you a general idea of what to look for. The best idea, though, is to learn to use your otoscope in conjunction with regular doctor visits. Look in your child's ears just before the doctor does and describe what you see. Then ask the doctor to describe your child's eardrums to you. Look again, and try to cement the appearance in your memory. You will learn a little more each time, whether there is an infection present or not.
You will be at a disadvantage compared to your physician, since the optics and the lighting of physician otoscopes are far superior (they are also far more expensive!). Also, the home otoscope features no way to assess eardrum mobility, often a critical part of an ear exam. Even with much practice, some kinds of ear infections will be impossible to see, including many of those that might lead to PE tube surgery. Still, you can expect to eventually become fairly proficient at recognizing your child's eardrums in a few different situations.
Frequent visits to your pediatrician can be quite inconvenient. Unfortunately children with frequent ear infections need to be seen by a skilled professional before a treatment plan can be established. Right now that may put a real burden on your family, but fortunately most children (and hopefully your son is one of them) don't require this kind of attention for very long.
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