Living With Trisomy 18
Surgeon Provides Moms With Hope For Daughters’ Rare Heart Disease
Erin Froehner listened as doctors gave her 3-day-old daughter a death sentence.
After being diagnosed with a rare disorder known as Trisomy 18 syndrome, doctors told Froehner her baby, Addy, might make it a few weeks or a month at the most. She found trouble finding doctors that would treat her little girl because the complex nature of Addy’s condition.
After all, the statistics say only 10 percent of children born with Trisomy 18 make it to birth. Of those born, only 10 percent make it to their first birthday.
“I was devastated when given her diagnosis and prognosis,” Froehner said. “We had no clue she had any health concerns while I was pregnant. My biggest concern for Addy has been how long she will be here. Like any parent, I want what's best for my baby. It is disappointing watching other kids her age pass her by in milestones, but she has the most amazing personality! She loves being silly and teasing people! We know that with every surgery and illness she has a much higher risk of not making it through than any other child, but ultimately we want to focus on the positives of each procedure she has and how it will improve her quality of life.”
Trisomy 18 (T18) syndrome is a rare a disorder of human chromosomes which occurs in approximately 1 in 7,000 live born infants.
Two of those pregnancies belonged to Froehner and Theresa Conaway.
Addy and Emma were born with the condition also known as Edwards’ syndrome, where an extra chromosome 18 disrupts the normal pattern of development in significant ways that can be life-threatening, even before birth.
The impact of Trisomy 18 includes:
- A predisposition to congenital malformations (birth defects)
- A high incidence of infant mortality
- Developmental and motor disability in older infants and children
The congenital malformations involve the medically significant findings mentioned above, as well as the presence of some internal or external birth defects.
The most common and important is a defect of the heart. Over 90 percent of children with Trisomy 18 will have a congenital heart malformation; these include:
· Ventricular septal defect (VSD) which is an opening between the lower chambers of the heart which makes the heart much more inefficient and tends to injure the lungs because of over circulation (a heart murmur is generally heard from this finding).
· Atrial septal defect (ASD), an opening between the two upper chambers of the heart making the right heart very inefficient and also allows extra blood flow to the lungs (a heart murmur is often heard).
· Patent ductus arteriosis (PDA) a heart defect involving the lack of closure of the channel that usually closes near the time of birth and thus is a persistence of the opening of this channel.
With the amount of complications involved with these conditions, it was difficult to find a surgeon who would operate on either Addy or Emma. But one doctor took the case when no one else would, as he has done many times throughout his career.
What Froehner fears most for her child and other children with T18 is that they won’t find doctors willing to do all that is necessary to care for those kids like they have found at the Cook Children’s Heart Center.
“As moms, we know how serious T18 is. But we like to focus on the positive since so many doctors focus on the negative of it all,” Froehner said. “It's become a daily reality that we may not have her for the next holiday or the next hospitalization could be her last. I know Addy is tough and has gotten through many illnesses she's been hospitalized for, but if not for heart repair I don't know that she would be able to fight off illnesses as she does now. Unfortunately, we have seen so many children and babies with T18 pass away because basic care was withheld (such as oxygen). We want other families and doctors to see that Trisomy 18 is not a death sentence. It can be life-limiting, but no one is guaranteed another day.”
At 2 days old, Addy was diagnosed with Trisomy 18 (T18), and was placed in hospice care the following day. Her family was told she wouldn’t make it through the weekend.
Froehner searched for surgeons and cardiologists to care for her daughter, but was turned away because of the complications associated with T18.
A friend, whose child also had T18, told Froehner to go to Cook Children’s Heart Center and visit Deborah Schutte, M.D., medical director of Cardiology, who could refer her to Dr. Tam if necessary.
As Addy’s medication continually increased, Dr. Schutte felt it was time to take the case to Dr. Tam. Dr. Tam reassured her family that even with Addy’s complications the surgery would be a success.
Dr. Tam performed open-heart surgery when Addy was 6 months old to patch a large VSD and a moderate ASD. Addy still has several small VSDs, but they don’t cause her problems currently and she doesn’t require heart medications any longer.
“We were ecstatic to find a doctor who saw the value in our daughter's life and was willing to help her have a better quality of life,” Froehner said. “We were definitely nervous as surgery day approached, but we know God is always in control and were able to find comfort in knowing He has big plans for our little girl!”
Addy turned 2 years old on March 10. That fact would probably surprise the surgeons who declined to operate on her because they felt the little girl faced too many odds against her to make it past her first few days.
Addy is about a year and a half post-heart repair and no longer requires heart medications. Addy began improving in many ways after heart surgery:
- She stays awake longer and interacts more with her family because she finally has enough energy to do so.
- She’s gaining weight.
- The family was able to move forward in other surgeries that were delayed because of her heart, including:
- Placing a G-button that will deliver nutrition directly to her stomach.
- Two cleft lip surgeries.
- Her tonsils removed.
“She has more surgeries ahead of her (cleft palate repair is next), but we wouldn’t be where we are today without Dr. Tam helping her,” said Froehner.
The diagnosis of Emma was the defining time in the life of her parents.
“Everything changed after Emma’s results came back positive for Trisomy 18,” Conaway said. “The maternal specialist we saw in addition to my OB/GYN, who was totally supportive, was not supportive of us continuing on with the pregnancy. He would ask us every time we had an appointment if we wanted to abort her.”
Theresa and her husband, Chris, knew enough before Emma was born that the chances for her survival were slim, but nothing prepared the couple for what would follow.
“We felt totally blindsided by the doctors after Emma delivered,” Conaway said. “Because they felt Emma wouldn’t live very long or have a good quality of life they canceled all basic care a normal baby would have gotten. We had to fight to get certain tests done for her in the hospital before she came home. It was very frustrating to have to debate with a doctor about basic interventions because they did not see the point in doing anything because of the prognosis. “
Because of T18, Emma was born with what Dr. Tam described as a massive VSD, and PFO, patent foramen ovale, a hole in the heart that is supposed to close up after the baby is born.
Conaway said she was “totally devastated” when a cardiac surgeon (not at Cook Children’s) said she didn’t believe it was in Emma’s best interest to do heart surgery on her because she would die during the procedure.
“We were told to take her home and love her until she died,” Conaway said. “The truth is that some babies do not make it to birth but the longer they do make it the more of a chance they have of making it a week after birth, a month and even a year and longer. This story is not unique, it happens all over the U.S. and in other countries. There are a lot of children in the U.S. that are teaching the medical personnel that these children can survive and thrive with intervention.”
Emma’s cardiologist forwarded Emma’s case to Dr. Schutte. Conaway, who works at Cook Children’s as a radiographer, received a call from Dr. Tam’s office for a consultation. At this point Emma was still an inpatient at the other hospital after having had a heart cath at that hospital. Emma was scheduled to have heart surgery at that hospital two days after the heart cath, but it was then her parents found out Emma was denied because of her multiple complications.
“I remember driving to my consultation with Dr. Tam thinking of what to say to convince him to operate on her. I was in his office for less than 5 minutes when he told me he could fix her heart,” Conaway said. “I can’t adequately put into words how I felt when Dr. Tam told me he could fix her heart. A lot of these children across the nation are denied any kind of intervention based on the T18 diagnosis. Dr. Tam gave my daughter a chance at life.”
At 11 months old, Dr. Tam performed heart surgery on Emma. He repaired the VSD, the other small hole and redirected the pulmonary vein. After her heart was repaired Emma was able to stop taking her heart medications and diuretics. She was also able to come off of continuous oxygen. The majority of Emma’s doctors are now at Cook Children’s.
Today, Emma is 3 years old and attends preschool. “She is a very happy little girl,” her mom said. She is learning how to sit up on her own for short periods of time, bear weight when standing and likes to play with her toys.
Conaway and Froehner share a common bond that has developed into a friendship, shared by their daughters, Addy and Emma:
Conaway: “It is such a great feeling to know that you are not by yourself in this journey. I can share my feelings and frustrations with Erin and she gets it. No one else can totally understand your feelings and your experience unless they too have experienced it. We can go to each other on ideas about feedings, equipment, sleeping issues, etc.
Addy celebrates her second birthday today, no one can really understand what an amazing experience it is to celebrate your child’s second birthday when you have been told that your child won’t have any. You begin to celebrate everything, every moment because it is always in the back of your mind that your child has a shortened life expectancy. So every time your child gets sick you wonder if this is it.”
Froehner: “It has been amazing for me to have someone who understands what I'm going through,” “There aren't many people out there who know how it feels to be told your child isn't going to live and then have to fight to find doctors willing to help your baby. We have done some double dating also, which has been great since it has allowed our husbands to connect and build a friendship as well. We don't get to go out often, but I love the time we are able to spend together. Having Emma and her family come into our lives has been a huge blessing!”
*Information on Trisomy 18 taken from trisomy.org.
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