Our story about Stephen
Parenting the Child with Down Syndrome

How frequently does Down Syndrome occur?
Why does Down Syndrome occur?
Why us?
What potential medical problems might a Down Syndrome baby have?
How smart are Down Syndrome babies?

As Martha gave her final push and I eased the precious head out of the birth canal, out popped a pudgy little hand with a curved little finger. In a flash, I realized that we were parents of a baby with Down Syndrome. The baby we expected was not the baby we got.

As we parent Stephen, we are realizing that a child with special needs exacts from us a special kind of parenting. For special-needs children the principle of mutual giving really shines. As Stephen develops special skills, we develop special skills. He is bringing out the best in us.

Down Syndrome (formerly called mongolism), named after Dr. Langdon Down, who described these children in 1866, occurs in one out of seven hundred births. The chance of having a Down Syndrome baby increases with the age of the mother.

• Women under age 23—1 in 2,000 births
• Women at age 30—1 in 1,300 births
• Women at age 35—1 in 400 births
• Women at age 40—1 in 90 births
• Women at age 45—1 in 32 births
• Women at age 50—1 in 8 births

Depending on how they are presented, these figures can be scary. If a doctor says to a mother, "At age thirty-five you have five times the chance of having a Down Syndrome baby than you did at age twenty," that would scare many senior mothers from conceiving. Here's how I present the risk factors to my patients who ask. At age twenty you had a 99.95 percent chance of not delivering a baby with Down syndrome; at age thirty-five your chances of not delivering a baby with Down Syndrome are 99.75 percent. Doesn't that figure sound more reassuring? This is why, in my opinion, the "thirty-five-year-old scare" is too young, forty-five perhaps? Even at age forty-five you have a 97 percent chance of delivering a baby without Down Syndrome. So, for mothers of later childbearing age, these figures are looking up.

Because of these risk factors, we believe that it is unwarranted to scare a thirty-five-year-old mother into prenatal diagnostic tests (either amniocentesis or chorionic villi sampling). Weigh these facts: At age thirty-five your statistical chance of delivering a Down Syndrome baby is 0.25 percent. However, the risk of damage to a normal preborn baby during these tests may be around 1 percent. At present, the AFP (alpha fetal protein) test is inaccurate for the prenatal diagnosis of Down Syndrome and is a source of much needless worry to pregnant parents. Whether or not you have a prenatal diagnostic testing is an individual judgment call between you and your doctor. But remember, your doctor is legally obligated to offer these tests to any mother thirty-five years of age or older.

Normally, a sperm and an egg each contain twenty-three chromosomes. At fertilization they combine to form a cell with forty-six chromosomes. Sperm and egg cells undergo normal divisions, called meiosis, producing exact copies of the original cell. Sometimes, by chance, during meiosis the division is unequal. One cell gets one less chromosome and dies. The other cell gets one extra chromosome and lives. If this cell (95 percent of the time it's the egg) joins with the sperm (or egg), the resulting fertilized egg contains forty-seven chromosomes. In the case of Down Syndrome the extra chromosome is number 21, so the genetic name for this syndrome is trisomy 21, that is, the cells have three number-21 chromosomes. There are other trisomies that usually end in miscarriage or early infant death. Why an extra chromosome causes the features of Down Syndrome is unknown. This unequal division of cells is called nondisjunction. It occurs by chance and accounts for 95 percent of the chromosome abnormalities in Down Syndrome. A rare genetic form of this syndrome (occurring in around 2 to 3 percent of these babies) happens by the mechanism of translocation. In this situation, one of the number-21 chromosomes parts company with its mate and attaches to another chromosome, giving the appearance of the cell having only forty-five chromosomes. However, the person is normal because he or she has all the genetic material of forty-six chromosomes. When a sperm or an egg from this normal person containing the translocated number-21 chromosome joins with another sperm or egg, the resulting fertilized egg appears to have forty-six chromosomes, but actually has three number-21 chromosomes. To confirm which type of chromosome abnormality your baby has, a geneticist analyzes your baby's chromosomes in a blood sample. The type of chromosomal abnormality, either nondisjunction or translocation, can be ascertained by looking at the chromosome alignment in your baby's blood cells. While most translocation abnormalities occur by chance, occasionally one parent is a carrier of cells that may contain a translocated number-21 chromosome and therefore has an increased risk of having more Down Syndrome babies. If analysis of baby's blood reveals a translocation type of abnormality, analysis of the parents' blood will reveal whether this happened by chance or whether a parent is a carrier and therefore has a risk of future babies inheriting this abnormality.Another type of Down Syndrome is called mosaicism, meaning some of the baby's cells contain the normal number of chromosomes, and others have an extra number 21. This is why many cells of your baby's blood are analyzed. Sometimes, but not always, a baby with mosaic Down Syndrome is less affected.

Chromosomal abnormalities happen by chance. You did not cause this by anything you did or did not do during pregnancy. A woman is born with a certain number of eggs and does not produce new ones during her life. The longer an egg lives, like any tissue, the more likely something will go wrong. Why this happens in sperm is more of a mystery. New sperm cells are continuously being made. There is no such thing as an "old sperm." For some unknown reason the risk of nondisjunction occurring in sperm increases in men over fifty.

Down Syndrome babies are prone to a number of potential medical difficulties.

• Heart defects: Around 40 percent of Down Syndrome babies are born with an abnormally developed heart. Most of these conditions are now surgically correctable.
• Intestinal defects: Around 4 percent of these babies are born with a blockage in the upper intestine, called duodenal atresia. This must be surgically corrected to allow food to pass.
• Hypothyroidism: This occurs in around 10 percent of children with Down Syndrome. Because the chance of this condition increases with age and may not be apparent on examination, it is wise to check your baby's thyroid function at least every two years.
• Vision problems: Many children with Down Syndrome develop a variety of eye problems, such as crossed eyes, nearsightedness, farsightedness, and cataracts.
• Hearing problems: Around 50 percent of these children have varying degrees of hearing problems. Their increased susceptibility to middle ear infections contributes to this.
• Instability of the vertebrae's: In 10-20 percent of these babies, the first two vertebrae, where the spinal column joins the neck, are unstable (called atlanto-occipital instability ). Babies with this condition are prone to spinal cord injuries from a jolt during contact sports. All Down Syndrome children should have X rays of the upper spine before entering school (between four and five years of age) and before being allowed to participate in contact sports.
• More colds: Down Syndrome babies have reduced immunity, which together with small nasal passages makes them more prone to sinus and ear infections.

Down Syndrome children have less-than-average intellectual functioning; some are more impaired than others. With early intervention and special education many of these children are able to join mainstream classes in school. Language lags are the most noticeable of the impairments. Because they do not go through motor milestones as quickly, it's like watching the remarkable unfolding of development in slow motion. Because parents cannot take milestones for granted, infant development takes on an added element of anticipation and excitement.What they may lack academically, these babies make up socially. Like all children, Down Syndrome babies have good and bad days. But, in general, these babies are affectionate and just plain happy. Many share constant hugs and kisses and radiate a generally carefree attitude. Their giving and caring attitudes are so contagious that those around these babies wonder who is really normal. There is indeed an up side to Down babies.

Practice attachment parenting. With these babies, the attachment style of parenting really shines. It gives you the ability to read the special needs of your baby, almost like having a sixth sense. You will need a deeper sense of intuition and observation because your baby's cues may initially not be so easy to read. Weighing how your baby looks and acts in relation to other babies will tear you apart. As I was coming to terms with parenting a special-needs baby, every time I examined a baby in my office I would think, "Our baby doesn't look or feel like that." In reality, I was filling my mind with the gut-wrenching feelings that our baby was less valuable than other babies. The real breakthrough came when I was able to focus on the special qualities of our baby rather than on what he was missing compared with other babies. Find out what resources, such as early intervention programs, are available within your community. Consider joining a Down Syndrome support group if there is one in your area. You will be amazed at the practical suggestions and insights from parents who have gone through situations similar to yours and have coped and thrived. One mother of a Down child wrote to us: "Stephen will bring flashes of color to your life that you never knew existed." Some parents plunge right into as many support groups and community resources as they can and feel comfortable immersing themselves in learning as much as possible about parenting their child with special needs. Other parents feel more comfortable choosing only a few support resources, deciding it is better for their family situation if they do not focus their entire lives on Down Syndrome but, rather, incorporate their special-needs baby into the mainstream of family life. They feel this approach emphasizes more of the individuality of their special baby. For example, when Stephen rubs his palm across my cheek, the caress of his soft touchy hand is unlike any touch I have ever felt. Special-needs babies can bring special gifts to the family. In my experience, parents who practice attachment parenting get in harmony with their special needs baby and develop an incredible sensitivity toward him. This sensitivity carries over into their social, marital, and professional lives. Set up sibling sensitivity. This sensitivity is also contagious to siblings. Parenting special babies is a family affair. I have noticed that when siblings pitch in and care for their special needs brother or sister, it mellows out their usual egocentric and selfish natures, enabling them to become giving, nurturing, and sensitive children. In general, a special-needs baby can elevate the sensitivity level of the whole family. Be a happy couple. On the other hand, parenting a handicapped baby can cause marital stress. It is necessary to keep some balance in your babycare. Some mothers focus totally on the special needs of the baby and withdraw from the needs of other members of the family. It is natural for a mother of a special-needs baby to feel, "My baby needs me so much; my husband is a big boy and can take care of himself." Each spouse needs to care for the other so that they can better care for their baby. Friends, be sensitive. A word of advice for friends and relatives: The worst thing you can do is shower sympathy on the parents of a Down Syndrome baby. Statements like "I'm sorry for you…" Devalue the baby—and the parents. After all, mother delivered a baby, perhaps not "normal" by our standards, but a unique person who will make his or her own contribution to that family and to society. After the birth of our baby, when the parade of friends began, the most uplifting statement I remember is from an experienced grandmother who offered, "My wish is for you to become excited about your special baby."