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Trisomy 18/
Edwards’ Syndrome

Trisomy 18/Edwards’ Syndrome Poster Child
Dylan Suhadolnik

Introduction

Trisomy 18 syndrome (also known as Edwards’ syndrome, after Dr. John Edwards) is a rare chromosomal disorder in which there are three copies of chromosome 18 (trisomy) rather than the usual two. It is characterized by specific dysmorphic features and organ malformations. While the majority of Trisomy 18 cases are "full" trisomy (where there are three copies of chromosome 18 in all cells), approximately 5% of the cases are mosaic, meaning the abnormality occurs in only some of the cells. Trisomy 18 affects girls more often than boys and the age of the parents tends to be above average. The syndrome occurs in approximately one out of every 3,000 to 5,000 births.

 

Features and Characteristic

Symptoms and findings may be extremely variable from case to case. However, in many affected infants, the following may be found:

 

Diagnosis

Intrauterine diagnosis is possible with an amniocentesis and chromosome studies. Chromosome studies may be indicated when the mother’s uterus appears unusually large during pregnancy, there is feeble fetal activity, there is an excess of fluid in the fetal sac, a small placenta is noted, and there is a single umbilical artery.

For those cases who are not diagnosed prenatally, the first sign of Trisomy 18 may be seen at birth when the baby appears thin and frail, he or she fails to thrive, has a weak cry, and is small for his or her gestational age. Various other features (as mentioned above) may be indicative of the syndrome as well. Chromosome studies, however, are performed to verify the diagnosis.

 

Treatment

There is no cure for Trisomy 18, therefore, treatment is based on managing symptoms. For example, many babies with Trisomy 18 have feeding problems that involve breathing, sucking, and swallowing difficulties. Others may have clefts, reflux, or problems with aspiration. For these children, a dysphagia clinic or feeding specialist (i.e., an occupational therapist) may be able to help improve feeding skills. In other cases, a G-tube may be necessary.

Some children with heart problems have difficulty gaining weight. For babies with this problem, parents may work with a nutritionist to devise ways to increase the baby’s caloric intake.

Many children with Trisomy 18 suffer from irritability due to constipation. To help with this, special formula may be needed to form a softer stool or a stool softener medication may be needed. Parents should always seek the advice of their child’s doctor before trying any medication to treat constipation or other health concerns.

Problems with muscle tone and other nervous system abnormalities are common in children with Trisomy 18. Motor skills are often affected and can lead to other problems, such as scoliosis. Physical and occupational therapy should be provided to improve fine and gross motor skills.

Some children have hearing and vision impairments. Hearing aides and glasses should be considered for such children.

 

What to Expect

There is a shortened life expectancy for children with Trisomy 18. However, though most children pass on within the first year of life, it is encouraging to know that there are several reported cases of children older than 10 years of age. For parents whose children survive past infancy, it is important to understand that children with Trisomy 18 can reach many wonderful milestones, including developing a loving relationship with their family.

 

Personal Stories

Dylan was born on 2/6/96, weighing 3 lbs. and 13 ounces and 17 inches long. We had no idea what Trisomy 18 was until he was two weeks old. They were doing so many tests on him, that we wondered what they were looking for. Then came the day they called us into the conference room off the NICU and told us that our son had something called Trisomy 18, a.k.a. Edwards’ syndrome. They said it was not compatible with life and he probably would not leave the hospital. They also said that if he did make it out of the hospital, we should take him home and make him comfortable. We were devastated, to say the least! We spoke with a geneticist, who basically told us the same things the doctors had. He gave us a photocopy of a book that discussed Trisomy 18 and had input from parents of children that had been diagnosed with this syndrome. Our whole family read that book, and we all tried to prepare for what they told us would happen. The hopes and dreams we had for our son were shattered! At 3 weeks of age, with the photocopy of the book, and an 800 number to a support group for families with children diagnosed with Trisomy 18 and related disorders (SOFT), we left the hospital.

The first time we thought we would lose Dylan, he was 10 months old. Our regular pediatrician was out of town, and the doctor that we saw said it was a virus and there was nothing to do but let it take its course. Two days later, he was worse and we went back to see our regular pediatrician who sent us to the ER of a local children’s hospital. Dylan was intubated in the ER, as he was in severe respiratory distress. He remained intubated for almost a week. He slowly got better, and after a 3 week stay, he came home. The first 3 years, we dealt with numerous hospital trips for RSV, pneumonia, and various other things. As Dylan has gotten older, he seems to have "out grown" being ill so often. In April of 1999 he was diagnosed with Wilms’ tumor, something Trisomy 18 children are more at risk for than typical children. We had been getting regular ultrasounds to check for this because it had been recommended by the medical advisor of the SOFT support group. Dylan had a G-tube placed, they did a biopsy to confirm the tumor, and a central line was placed for chemotherapy treatments. We thought this would be it, that we would lose him for sure. Dylan had chemotherapy treatments for 6 months. He did much better than anyone ever expected. He even gained weight while on chemotherapy. He has been cancer-free since November 1999 and we go every 4 months for bloodwork and alternate between ultrasounds and CT-scans to be sure the tumor has not returned.

Dylan has been involved in early intervention programs since he was 3 months old. He now attends the pre-school program they offer. He has always been a very content and social little boy. He enjoys playing, being read and sung to, and watching Blues Clues. He has come a long way since the doctors told us his diagnosis, and with the connections we have made with other families through SOFT, as well as the Trisomy listserv we belong to, we have learned a great deal about Trisomy 18, as well as had the opportunity to educate others and make them aware. I encourage new parents of a child with Trisomy 18 to get involved with support groups like SOFT. I would also tell those parents to be prepared for dealing with doctors that will give only the negative information about Trisomy 18. - Dennette Suhadolnik

 

Resources

If you are interested in meeting other parents who have a child with Trisomy 18, please click here for directions on how to subscribe to an e-mail discussion list: http://www.lightlink.com/trisomy/tsub.htm

For more information on Trisomy 18, please see the following references:

 

The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.

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