When your infant arrives with a problem, don’t despair.
It’s the worst fear of new parents: your infant isn’t healthy. If your baby is diagnosed with a birth defect, your first step should be to get opinions from at least one other doctor. Keep up with well-baby visits as well as the trips to specialists, since treatment for any complications will go best if they’re caught early.
Heart. Congenital heart defects may be so mild that they have no visible symptoms. During an exam, a doctor can usually detect a murmur and order further tests. More serious heart defects will make themselves apparent in a rapid heartbeat; breathing or feeding difficulties; swelling in the legs, abdomen, or about the eyes; or pale gray or bluish skin. Very often the problem can be corrected through surgery, drugs, or a pacemaker. As the caregiver, you’ll need to do all the normal hard work of parenting an infant, plus watching for symptoms. Ask your doctors to be specific about what you need to monitor and be careful to get all the support you need so you can take joy in your child — without fearing the worst every minute.
Feet. Some babies, more often boys, are born with an ankle or foot deformity — the old-fashioned term was a “clubfoot” — on one or both feet. Mild cases don’t bother the babies until they’re walking, and can be treated by gently forcing the foot into the correct position and helping your child do prescribed exercises. In a more serious case, your child may need to wear a plaster cast, a bandage with a splint, and special shoes, or have surgery. The treatment usually doesn’t take more than six months.
Mouth. A cleft lip or palate appears when the roof of the mouth or the tissue at the back or the upper lip, which are split in a fetus, never close completely. Watch out for middle-ear infections in these babies. A baby with a cleft palate may need to be fed sitting up with a special bottle, and the problem may prevent feeding from the breast (a mother can express her milk and bottlefeed the baby until the cleft is repaired). Your baby’s doctor should arrange for surgery for a cleft lip about three months after your baby is born; wait until six or 12 months to repair a cleft palate. Your child should ultimately look like other children.
Spine. Spina bifida, a malformation of the neural tube, a structure in the embryo that should grow into the spine and brain, occurs when the backbone never completely closes. If the problem is detected during pregnancy, you will probably deliver by Cesarean section with specialists at hand during and after the birth. There may be almost no symptoms, or your baby may require surgery within 48 hours of birth. Parents will be taught how to exercise the baby's legs and feet. Children born with spina bifida may walk with leg braces and crutches, or use a wheelchair, working with specialists in orthopedics.
Limbs. Some children are born with missing or undeveloped limbs and will be fitted with an artificial version, a prosthesis, as quickly as possible and get help from a physical therapist.
Chromosomes. If your child is born with Down syndrome or Fragile X syndrome, you may well have heard the news before birth. More than half of Down syndrome children have visual or hearing impairments, and they may suffer from ear infections, heart problems, and intestinal problems. They are intellectually disabled, but can walk, talk, and be potty-trained, though generally at older ages. Children with Fragile X syndrome may look normal at birth, with signs appearing after 18 months or two years, when caregivers notice that they aren’t talking or are falling behind other children in other ways. Early intervention can have big effects.
Other congenital diseases. A blood test may reveal that your baby has sickle-cell disease, a blood disorder that can be fatal. Infants and young children with this problem are especially vulnerable to bacterial infections, and may be recommended daily penicillin treatments and pneumonia and flu shots as well as the usual vaccines. Blood tests also check for PKU (phenylketonuria), a condition in which the baby lacks an enzyme needed to break down the protein phenylalanine. Left untreated, your baby could become intellectually disabled. If the problem is discovered, your doctors should give you a special formula to feed the baby, since breast and cow’s milk contain phenylalanine. As the baby gets older, she may be able to eat vegetables, fruits, and grains but usually not cheese, meat, fish, or eggs. You’ll have her blood regularly tested.
Remember that research for new treatments is underway, and be hopeful for your child, while helping to overcome any problems.
Many organizations have sprung up to help caregivers of children with the more difficult problems.
- My Child Without Limits.org has online networks for parents of children with a variety of disabilities.
- The ARCH National Respite Network will help you take a break from caregiving to any disabled person.
- The Arc provides a wide range of services to the intellectually disabled and their families.
- Easter Seals also offers respite programs.
- The National Down Syndrome Society offers local support groups and a toll-free and email helpline.
- The National Down Syndrome Congress provides information and advocacy.
- The International Down Syndrome Coalition provides information, resources, and support groups for families.
- Band Of Angels provides support for Down syndrome people and their families.
- The Spina Bifida Association offers information and state chapters and local support groups.
- The SB-list is an online discussion group that offers information and support.
- The Christopher and Dana Reeve Foundation has many resources for people who are paralyzed.
- The Spina Bifida Resource Center has links to local support groups and clinics.
- The Cleft Palate Foundation offers information and lists of specialists.
Janet O’Dell, RN