A Trisomy 18 Story

Katie and Ryan Paul Buck, residents of Des Moines, Iowa, are the parents of two sons, two-year-old Daniel and six-month-old Alexander. Alexander has a chromosomal abnormality, trisomy-18 (t-18), where an extra 18th chromosome exists in a person’s genetic makeup, causing severe birth defects. The physician who delivered the news of this diagnosis to Katie and Ryan presented them with the worst case scenario and told them that 90% of babies with t-18 don’t make it past the first month. Defying the doctor’s bleak expectations, Alexander is now half way through his first year and his smile melts hearts.

Ryan and Katie have produced a beautiful and hope-filled video, The Birth of Alexander Buck: A Trisomy 18 Story, which can be viewed athttps://vimeo.com/170472316.

Julie Grimstad recently interviewed Katie Buck for PHA Monthly.

JG: Did you know before Alexander was born that he had trisomy 18?
KB: No. Trisomy 18 can be either a random occurrence or, in some cases, hereditary. Alex’s extra chromosome was not inherited, so we did not expect this. We did not have any prenatal testing done because it is discriminatory against disabled people. We would not have an abortion, no matter what condition our baby might have. None of Alex’s t-18 related birth defects showed up on ultrasound. But, in week 33 of my pregnancy, intrauterine growth restriction (IUGR) was detected. IUGR means that the baby is smaller than he should be because he is not growing at a normal rate inside the womb. This condition can have various causes. We assumed Alex would be fine, just tiny.

JG: When did you find out that Alex had t-18?
KB: Labor was induced at 37 weeks because, if he had remained in the womb, he may have died due to IUGR. We would later learn that t-18 babies often are stillborn due to the quality of cord blood flow declining. However, we didn’t know Alex had t-18 until three days after he was born. Due to some physical features, a sample of his blood was sent away for FISH testing. It came back positive for t-18.

JG: What happened next?
KB: In our video, you hear the recording of the physician as he delivers the news that Alex’s FISH test was positive. It was bad, really bad. He told us all the things that could be wrong with Alex, including significant heart defects, and discouraged us from further testing or surgery to correct a heart defect. Since “90 % don’t make it past one month,” he asked, “Why put him through it?” We asked about an echo-cardiogram, a simple heart ultrasound that would not hurt him. The doctor said, “I just wouldn’t.” We got a better doctor the next day and he ordered the echo-cardiogram.

The cardiologist told us not to rush Alex out of the neonatal intensive care unit (NICU) until we were completely comfortable going home. He was very supportive and visited Alex in the NICU every day. We only stayed two weeks. Because there is discrimination against babies with birth defects, we had to ask to keep him in the NICU in order to set up his feeding tube and get him stable. There were a couple of doctors who pushed hard for us to take him home without even treating his jaundice.

JG: When did you bring Alex home?
KB: At two weeks old. We agreed to hospice care, having been led to believe that, without hospice, we couldn’t get home nursing service for quite a while because there was a long waiting list. This was false information.

JG: Can you explain what you mean by “false information?”
KB: We admitted Alex to the hospital with a cold at four weeks old because his blood oxygen level was low. When they saw that we were going to choose aggressive care, hospice reassessed Alex and determined he wasn’t imminently dying. We were switched to regular home nursing. It was then that we discovered the waiting list was for full-time nursing care, not part-time care. We were only getting part time hours through hospice anyway. When we switched, the only real difference was the type of care, not the length.

JG: How many times has Alex been hospitalized?
KB: Other than that one time for illness, he has only been hospitalized for tests and for surgery. He had tests for obstructive apnea, a breathing disorder common to babies with t-18, who often have poor tone of their airways. He did catch a cold again, but handled it well and did not need hospitalization. His airway has matured some as he’s grown. At three months old, Alex had surgery to place his gastrostomy tube, a feeding tube that goes directly into the stomach and stays in place, making it easier to feed him. At the same time, an intestinal malformation was corrected. He would have needed surgery for his heart defect, but the hole in his heart has almost completely closed on its own and is now quite small. Alex’s cardiologist was so happy when he told us Alex would not need surgery after all!

JG: How is Alex doing now?
KB: He’s thriving! At birth, Alex weighed only 4 pounds, 5 ounces. At six months, he weighs over 15 pounds and is at 6% on the regular growth chart for babies his age. Nothing in his immediate future is life-threatening, but he is medically fragile.

There are three types of trisomy 18. Mosaic t-18 is when only a percentage of the cells are affected. It is difficult to determine. Full t-18, which Alex tested positive for, is when every single cell in the body is affected. However, because of how well Alex is doing, the geneticist told us to assume he is mosaic. We are pursuing more testing. Many children test as full initially and then mosaicism is later detected. Mosaicism is generally associated with better prognosis, but that is not always the case. The third type of t-18 is called partial and occurs when there is only a piece of the extra chromosome. This type is the only kind that can be inherited. One parent is a carrier, but shows no physical abnormality himself or herself. Mosaic and full are totally random occurrences during a baby’s development in the womb.

JG: What are some of the challenges you are still facing with Alex?
KB: Sometimes t-18 children walk and talk. Sometimes they don’t. We work with a speech therapist and physical and occupational therapists to help Alex reach his maximum potential. The speech therapist is very encouraged that he may talk because he coos and makes other sounds. He is very social and smiles a lot. The therapist helping develop Alex’s muscle movement has years of experience working with kids with developmental issues. She believes he is going to walk. Either way, all t-18 children enjoy various activities and are happy children with good quality of life regardless of abilities.

JG: Has your extended family been supportive?
KB: Yes, very supportive. The best thing anyone has said to me was when my mom told me, “We’re going to help him be the best Alex he can be.”

JG: You called Human Life Alliance when Alex was in the NICU, which is when I first heard about Alex. Was that call helpful?
KB: Definitely. We were encouraged with advice and prayer. Joe Langfeld, the deputy director at HLA, referred me to Mary Kellett, the executive director of Prenatal Partners For Life (http://www.prenatalpartnersforlife.org/). Mary assured me that we would really enjoy Alex. She taught me to be cautious about what medical professionals tell us, and, in the spirit of Matthew 10:16, to be as “shrewd as serpents and innocent as doves.”

JG: Do you have any information or advice to give other parents of babies diagnosed with t-18?
KB: We were told that the extra chromosome would kill Alex. But an extra chromosome has never killed anyone. How well babies with t-18 fare depends on the defects they are born with and the care they receive. Each baby writes their own story.

If your child has a prenatal t-18 diagnosis, be very wary of tactics doctors use to ensure t-18 babies don’t survive. They may not monitor the baby for IUGR so a decline in cord blood flow will go undetected, resulting in stillbirth instead of early delivery. Or, they may induce labor very early, before the baby can survive outside the womb.

The experience we had with the doctor and the hospital was not unique. T-18 kids are typically treated this way. It is a common misconception that babies with t-18 don’t survive very long and have a poor quality of life. The pattern of destruction of these children’s lives and their parents’ hopes is so common it could be scripted. Have hope, and find support groups. There is one on Facebook called “Trisomy Families” (https://www.facebook.com/groups/trisomyfamilies/) that is popular with long term survivors. The moms in that support group know so much about t-18 that they deserve medical degrees.

Have hope. Regardless of a medical staff’s attitude, your baby has value. Your baby matters.

JG: Thank you, Katie. Do you have anything more you’d like people to know?
KB: When we first brought Alex home, the feeling of dread was palpable. The doctor who told us he had t-18 gave Alex only two weeks to live. We knew he could die at any time. But Alex has really blessed us and has taught us so much. He has taught us to live in the moment. None of us is guaranteed tomorrow.
Live for today. Hope for tomorrow.