The odds seemed impossible to comprehend.
Russell and Rhonda Dennis had just learned their newborn daughter, Lilliana, suffered from Trisomy 18. The genetic disorder would stymie her physical and mental development. Fewer than half of babies with the disorder survive their first week. Only about 8 percent live an entire year.
All you can do is take her home and love her while you can, doctors said.
That was about one year ago. The Dennis family never thought that Lilliana would celebrate her first birthday, but after open-heart surgery and regular therapy, she is thriving.
Her parents want to hold her up as an example that though the condition can be traumatic, it’s not an automatic death sentence.
“She’s proven she can live, she can learn,” said Rhonda Dennis, her mother. “She still might not live much longer, but we’ve come to terms with all of the things that the Lord has laid out. He’s in control, and bad things may come, but that’s part of his plan.”
Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a chromosomal defect. It occurs in about 1 out of every 3,000 births.
Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are more potentially life-threatening in the early months and years of life.
Less than 10 percent of babies with Trisomy 18 survive to their first birthdays, though some children can enjoy many years of life with their families, reaching milestones and being involved with their community. A small number of adults, usually girls, have lived into their 20s and 30s, although with significant developmental delays that do not allow them to live independently without assistance.
What causes Trisomy 18?
At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with a set of 46 chromosomes in each cell. A trisomy occurs when a baby has three No. 18 chromosomes instead of the normal two. This is something that happens at conception.
What are the characteristics of Trisomy 18?
The genetic material from the extra 18th chromosome can cause a variety ofw problems with varying severity. Just as children with Down syndrome can range from mildly to severely affected, the same is true for children with Trisomy 18.
Typical characteristics of Trisomy 18 include:
Omphalocele, or part of the intestinal tract is outside the stomach
Esophageal artesia, where the esophagus doesn’t connect to the stomach
Excess amniotic fluid
Pocket of fluid on the brain
Rocker bottom feet
Severe developmental delays
Umbilical or inguinal hernia
SOURCE: Trisomy 18 Foundation
In their southside Indianapolis home, the Dennis family have created a system to help protect Lilliana.
A monitor measures the amount of air she is getting in her lungs, warning the family if she has trouble breathing. Tanks of oxygen are on standby, as are medications to open her airways, in case the little girl struggles.
A gastric feeding tube was implanted in her stomach in April, since she has not developed the ability to eat by mouth. She gets much of her nutrition pumped into her body during the night, then feeds three times during the day to ensure she gets the proper nutrition.
The Dennises have four other children, and none of them have Trisomy 18. Even while Rhonda Dennis was pregnant with Lilliana, she experienced no complications or warnings that their new child would have so many problems.
Lilliana was born May 17, 2011, at Community South Hospital. She was three weeks early and weighed only 4 pounds, 7 ounces. Her small weight was the first sign that something may be wrong. More concrete signs, such as her clenched fingers that never seemed to straighten and feet that curled like rockers, made doctors order a genetic test.
The results showed she had Trisomy 18. The condition, also called Edward’s syndrome, is similar to other genetic disorders such as Downs syndrome. When Lilliana was conceived, she had an extra chromosome, which caused her to develop a heart defect, poorly developed fingers and toes, and blockages that stunted her breathing.
In Lilliana’s case, the immediate danger was the stress on her respiratory system. The hole in her heart prevented oxygen-rich blood from properly circulating through the body. The struggle for oxygen puts undue stress on the rest of the body, and eventually they die.
Little research has been done on Trisomy 18, due to the incredibly high death rate. Estimations are that almost 99 percent of babies with the condition are never even born. For those that are, odds are about 50 percent that they survive their first week.
Such a large percentage of the children born with the disease die quickly, and doctors have little opportunity to study the physical effects, said Dr. Sanjay Parikh, Lilliana’s cardiologist at Peyton Manning Children’s Hospital in Indianapolis.
From the start, the family turned to their faith to cope.
Russell, president of Heritage Bible College in Franklin, and Rhonda Dennis turned to a specific Bible verse for guidance — Romans 15:13. The verse reads, “Now the God of hope fill you with all joy and peace in believing, that you may abound in hope, through the power of the Holy Ghost.”
That message became their rallying cry.
“When you’re told these things up front, you just think it’s God’s plan. I really didn’t think she would live. I thought that she would live a short time, and we’d just show everyone we still trusted God,” Rhonda Dennis said.
They also started researching the problem on their own. Online support groups, as well as national organizations such as the Trisomy 18 Foundation, helped fill in the blanks beyond what their doctors had told them.
The information was frightening, as it revealed how deadly the condition can be. But it also offered hope. They read about children who were attending school and had learned to walk. One woman lived to be 41 and graduated from college.
“The doctors tell you this condition is incompatible with life, that it’s fatal, and that all of these things will more than likely go wrong,” Rhonda Dennis said. “But then you meet these people and see these kids doing stuff, interacting, walking and talking.”
Initially, Lilliana’s doctors told them it was too late for surgery and there was nothing they could do. But the Dennises wanted a second opinion. Working with friends in Ohio, the little girl’s heart scans and images were hand delivered to a doctor based in Toledo, Ohio, who specialized in Trisomy 18 cases.
The family also went to see Parikh. He examined her heart images and immediately said that he could do the surgery.
But he had a catch. Parikh couldn’t guarantee that he could assemble a surgical team that would agree to do it.
Because the life expectancy of any baby with Trisomy 18 is so short, and surgery doesn’t guarantee a greatly extended life, many health officials feel that any surgery or procedure is cruel.
“The prejudice is such that, these babies don’t live long enough, so why put them through the pain and stress of surgery if it isn’t going to make that great of a difference,” Russell Dennis said.
The Dennises also had to plead their case in front of the hospital’s ethics board, which must give the approval on risky or controversial procedures.
The board was split, and unanimous approval was needed to do the surgery. One of the main opponents of doing it asked the family how this operation would affect Lilliana’s quality of life.
“My thinking was, if she gets the surgery, she lives. If she doesn’t, she dies. It was that simple,” Russell Dennis said.
But it was Rhonda Dennis who spoke. She looked at the physician and simply asked, “What if it was your daughter?” After deliberating behind closed doors, the committee emerged and gave their approval for the surgery.
Other parents who had gone through Trisomy 18, as well as their own research, told the Dennis family they had a six-week window to repair the hole in her ventricle which would relieve the stress.
Parikh and his team gathered on Oct. 13 to perform the open-heart surgery, a first for a baby with Trisomy 18. The operation was long, complicated by Lilliana’s small size and her breathing problems. But by the next day, she was stable and recovering in the hospital.
After 17 days of recovery, Lilliana came home with her parents. The change in her health since that time has been noticeable.
Though they take precautions with an oxygen monitor and medications, Lilliana’s breathing has become stronger and more regular. The next challenge is teaching Lilliana’s body to work the way a small child’s should.
Rhonda Dennis is working with her to learn to feed by mouth. She has an oral stimulator that allows her to coat Lilliana’s gums and inner cheeks with baby food, most of which the girl spits up.
Lilliana also sees a physical therapist six times each month. The sessions are designed to help with basic muscle tone, such as lifting her arms and legs, and moving her head. She still can’t lift her head up much when laying on her stomach, but has started actively moving her lower body around.
“She has great hip action. She can scoot all over the floor,” Rhonda Dennis said.
To celebrate Lilliana’s first birthday, the Dennises had a celebration open house. She received her own birthday cake, and gifts from family and friends. After 12 months of fear and concern for their daughter, Russell and Rhonda Dennis are grateful to focus on the positive.
They understand that Lilliana will likely struggle for the rest of her life, and they’ve accepted that. Their goal now is to give their daughter the best life she can have while she’s alive, and to reach out to other parents to help them with the myriad decisions that come with Trisomy 18.
“If the parents don’t know what to push for and what to demand, a lot of times they won’t get it,” Rhonda Dennis said. “There are statistics that show that many of these children don’t live long. But you don’t know that for sure.”