FEEDING DIFFICULTIES 

Babies with trisomy 18 or 13 generally have some feeding problems related to difficulty in coordination of breathing, sucking and swallowing.  Many have a weak suck and uncoordinated swallow resulting in choking and sometimes vomiting.  Reflux (the upward movement of small amounts of stomach contents to the esophagus or  throat), aspiration (inhalation or trickle of fluids into the lungs) and oral facial clefts further contribute to feeding difficulties and health issues.  If needed, your baby may be referred to a dysphagia clinic or feeding specialist to help with feeding problems.

When feeding orally (by mouth)

• Ask the nursery staff to show you how to position your baby's head up, in good body alignment.  Hyperextension of the head, a usual position of babies with trisomy 18 or 13 who have not yet developed head control, elongates throat muscles and makes swallowing more difficult.
• Try feeding with pre-softened preemie nipples and give only small amounts, offered frequently.  If you decide to breast feed, which can be more difficult for a newborn than bottle feeding, you may need the help of a lactation consultant.  
• Ask the nursery staff to show you how to burp your baby during and after feeds.
• To help prevent reflux keep your baby's head elevated about 30 degrees or more during feeding and for one to two hours after a feeding.  
• It is now recommended that healthy infants sleep on their backs because of an increased risk of SIDS with a stomach position. But, if your baby has or might have reflux, your physician may recommend a different sleep position so ask what sleep position is recommended.
• Babies with oral facial clefts usually require special nipples and instruction from the nursery staff on how to feed orally.  The Haberman feeder is mentioned as helpful in Trisomy 13, A Guidebook for Families, an educational book available through SOFT. For information about this feeder call 1-800-435-8316.

Tube feedings: Because of the feeding difficulties mentioned above, many babies with trisomy 18 or 13 are fed by a tube inserted through the nose or mouth, down through the esophagus into the stomach.  Some babies eventually learn to suck and swallow, progressing to bottle or breast feeding. Others eventually have a gastrostomy or G-tube placed abdominally to prevent the trauma of tube insertion.  Some children are fed both orally and by tube.   

If appropriate, x-rays and other tests can be done to determine structural or functional gastrointestinal (GI) problems.  Reflux, a frequently found GI problem in children with trisomy 18 or 13, may respond to medication prescribed by a doctor.  Referral to a gastroenterologist may be needed if reflux persists or is significant.  Some children with reflux or other GI problems may need consideration of surgical correction.  The most frequent surgery done for babies and children with trisomy 18 or 13 is placement of a gastrostomy tube for feeding.  Fundoplication, a surgery to prevent reflux and vomiting, has also been done on many of these children.  Parents report that cleft lip and palate surgical repairs have been done, sometimes in stages, requiring more than one surgery.  Prior to a surgery, the surgeon will consult with your baby's cardiologist. 

SLOW POST NATAL GROWTH

Children with feeding difficulties and cardiac problems grow slower and in general are smaller than other children.  Children with trisomy 18 are usually more delayed in growth than children with  trisomy 13.  Ask your doctor about high calorie formulas or supplements to help your baby gain weight.  A referral to a nutritionist may be helpful.  It is important to work with your doctor, as some children cannot tolerate high calorie feedings or certain formulas. Growth charts for children with trisomy 18 or 13 are printed in  Care of the Infant and Child with Trisomy 18 or 13, an educational book available through SOFT.

IRRITABILITY AND CONSTIPATION

A stressful concern for parents of babies with trisomy 18 or 13 is the problem of dealing with fretful babies who are uncomfortable with gas in the bowel or constipation (firm stool) or difficulty in emptying the bowel, no matter what the consistency of the stool. Ask your doctor about anti-gas medication and give it enough time to work by using it consistently as directed.  Ask for a formula that helps form soft stool. Stool softener medication, laxatives and/or suppositories may also be needed.  Many parents mention an over-the-counter liquid glycerin suppository called Babylax as being more effective than the hard glycerin suppositories.  If suppositories are needed, ask your doctor about using Babylax.  Weak or low toned muscles contribute to bowel problems.  As your baby becomes more active, with leg movements and rolling, abdominal muscle tone may improve which might help a baby bear down more effectively for a bowel movement.  However, constipation is often a life-long issue for babies/children of any age with trisomy 18 or 13.

A baby who has difficulty taking in enough nourishment for comfort and growth will sleep poorly because of hunger.  Complicating this is the difficulty of emptying the bowel and this results in discomfort and fretfulness.  A baby can swallow air with crying, fretting and feeding problems. A baby experiencing bowel discomfort may be less willing to eat.   If appropriate, GI studies may be needed to help find the cause of bowel problems.

Enemas: Do not give your baby an enema.  Enemas can deplete a baby of electrolytes and alter body fluids in children.  Enemas should only be used with caution under the guidance of a physician.

LOW MUSCLE TONE & NEUROLOGICAL  PROBLEMS

Problems of muscle tone and nervous system abnormalities affect the development of motor skills.  Related to this, babies and children with trisomy 18 or 13 develop chronic health problems such as scoliosis (curvature of the spine),  esotropia (crossed eyes),  and constipation.  Your pediatrician might refer your baby to a specialist for help with these medical problems. If surgical intervention is considered, a cardiac evaluation will be needed to determine the safety of doing the procedure.   Further, your doctor might refer your baby to a physical, occupational, or vision therapist and a speech pathologist.  Profound developmental delays affect children with trisomy 18 or 13.  They learn slowly, but with time and therapy do attain some developmental milestones. Early intervention through special education and therapy programs for infants with special needs is available in most locations.  Ask your doctor to help you find an appropriate early intervention program in your area.

COMMON CHRONIC ILLNESSES AND PROBLEMS

Congenital heart disease, the eventual development of pulmonary hypertension, elevated blood pressure, apnea episodes, pneumonias, sinus infections, seizures, urinary tract infections, ear infections and eye infections can be frequent illnesses of babies and children with trisomy 18 or 13 and should be evaluated and treated by a physician.    Varying degrees of vision and hearing deficits are common problems for these babies and evaluations should be done. Refer to Recommended Medical Care at the end of this paper.   Hearing aids, glasses and sometimes surgeries may be of help with vision or hearing problems.  Prior to any surgical correction, a cardiac evaluation will be needed to assess the risk verses the benefit. Most of these children are hypersensitive to sunlight and sunglasses may be of help when outside.

CONGENITAL ANOMALIES

Trisomy 18 also known as Edwards syndrome and trisomy 13 also known as Patau syndrome are multiple congenital anomaly patterns.  Multiple anomalies found prenataly by ultrasound or present at birth will alert the doctor to the possibility of a syndrome.   Further testing prior to birth or a test of a small amount of the infant's blood after birth is done to confirm chromosomal abnormality. There are many types of congenital anomalies reported in trisomy 18 or 13.  Each syndrome has its own specific set of anomalies but also some common anomalies such as the presence of cardiac defects which occur with high frequency in both trisomy 18 and 13.  Some abnormalities do not affect the infant's health, making treatment unnecessary or optional.  However, some abnormalities may risk the viability of the infant or affect development and, if appropriate, may need consideration of medical or surgical intervention (e.g. club foot, facial clefts, Spina Bifida, hydrocephalus). SOFT has a list of surgeries done, as reported by parents, which may be helpful information for your child's doctor or surgeon.

USUAL REPORTED CAUSES OF DEATH

Approximately 700 live births of trisomy 18 and 400 live births of trisomy 13 occur each year in the USA.  Survival studies done since the 1980's show a similarity in the life expectancy of infants born with trisomy 18 or 13 in that less than 10% will survive past their first birthday.   Parents sometimes don't know  why  their baby died but the usual reported causes are cardiac failure, apnea (irregular breathing, stops temporarily) and pneumonia.

LONG TERM SURVIVOR  

Perhaps in the case of trisomy 18 or 13 the long-term survivor is any child who has lived past his/her first birthday.  SOFT records list many older living children. As the child with trisomy 18 or trisomy 13 ages, many of the early problems become more manageable as doctors and parents work together to find solutions.  Periodic health check-ups, often with different specialists, will monitor your child's health and help prevent or treat new problems.  Somewhere along the way, parents shift from waiting for the baby to die to focusing on the many challenges of caring for a handicapped child and finding ways to help them develop their potential.   However, when a medical crisis occurs, parents again face decisions and emotions related to the possibility of their child dying.

FOR THE PROFESSIONAL

Supporting Parents: Prenatal screening can detect the possibility of a woman at risk of having a baby with trisomy

18 or 13.   Further testing and genetic counseling may be appropriate. Trisomy 18 or 13 needs to be presented accurately to parents and include the fact that some babies survive beyond one year.  Parents need to know that these babies respond to comforting, and that with time, their baby will come to know his/her primary caregiver(s) and will begin to enjoy attention. The specific problems of their infant should be discussed with the parents and, if appropriate, referrals made to specialists as needed.  It is crucial for parents to be a part of deciding what is in the best interest of their child and to have their views respected.  Some parents use intervention with the hope of alleviating problems.  Others choose a more watchful care consisting of love, comfort and waiting.  SOFT also has members who decided to terminate their pregnancy.  The supportive professional can make a significant difference in the lives of these babies and their parents, and families do treasure those professionals who attempt to be their support.

Help parents find a support group such as SOFT. Suggest parents contact social services about qualifications for Medicaid and also to ask about the Medicaid waiver programs for those who do not ordinarily qualify for regular Medicaid.  Encourage parents to find and use respite services and inform them about Hospice as a source of help. Some parents are reluctant to become involved with social services or to ask for help but care of these children requires large amounts of time and energy.  A reliable source of regular help will make a parent's life easier. 

 RECOMMENDED MEDICAL CARE

 John Carey, M.D., annual SOFT conference information.

• Children with trisomy 18 or 13 should receive the same care that all babies/children receive. Treat their problems according to the degree of involvement and what is in the best interest of the child.
• Cardiac evaluation is indicated for the infant with trisomy 18 or 13.  It will guide other professionals in caring for your child.   Give antibiotics prior to dental procedures for those with cardiac problems.
• Immunizations: The American Academy of Pediatrics has firm recommendations for children with neurological problems.  Your child's doctor should refer to the AAP recommendations for immunizations.     
• In children with trisomy 18, abdominal ultrasound including kidney and liver are indicated after ten months of age with a recheck every six months in accordance with your doctor.  The ultrasound should be performed in a laboratory familiar with the development of Wilms tumor (kidney cancer) and hepatoblastoma (liver cancer).
• Hearing evaluations should be done by six to eight months of age in babies with trisomy 18 or 13.
• Vision evaluations are indicated at a few weeks of age in infants with trisomy 13 and for the infant with trisomy 18 are indicated when appropriate.
• Follow older children for the development of scoliosis (curvature of the spine) and refer for dental care.
• If appropriate, refer to early intervention, therapies and social services as needed.