Every family expecting a baby goes for that 20-week scan hoping only for good news. And too many parents are left feeling helpless and unsupported after a diagnosis of a condition that might mean baby will have a severe disability or may not live for long after birth.
But what happens when the diagnosis is wrong? And when a baby, who was described as having a “fatal” condition is born without that condition at all?
This is the story of baby Hope Atherton, and of two parents whose belief in giving their baby girl every chance at even a short life was rewarded with a lifetime of love with a precious daughter.
THE DIAGNOSIS
Beth Atherton says that a diagnosis of a life-limiting condition for your baby is something “you never think will happen to you. Until, of course, it does.”
Beth and her husband Paul were expecting their third baby and had been for their scan, where they were told their little girl had measured small, with an echogenic bowel, but that “all of that could mean nothing… or something very serious.”
“I was unpacking the food shop when I answered the call,” Beth remembers. ‘‘Your baby has a 95% chance of having Edwards’ syndrome,’ the screening coordinator said. ‘It’s so rare, I’ll just have to read the information to you.’”As she explained the devastating impact of having this particular extra chromosome, I started to remember friends of mine in the US, who’d had a baby with Edwards’ syndrome. His name was Hudson. He’d lived for eight hours and they’d celebrated every moment they got with him.”
“I wanted to end the call… google more info… call my husband, Paul. Should I wait until he was home from work to process together? As a doctor, he might understand the full connotations of what this meant and the news might ruin the rest of his working day. I couldn’t wait – I couldn’t keep this to myself. I burst into tears before I could get the words out to tell him, upsetting my daughter so much I had to stop and calm down,” she says.
“It’s Edwards’ syndrome,’ I told Paul, ‘the baby might not live.”
Beth says they were offered another scan a few days later. “Sitting in the waiting room felt like being in a level of hell: building anxiety as our worst fears danced around us and time dragged on and on. After a half-hour scan in total silence, having no idea what the pictures on the screen meant, the fetal medicine consultant told us matter-of-factly that our baby was too small to survive, and she fully expected her to die in the womb or shortly after birth.”
“There was no cushioning the news; no ‘I’m sorry to have to tell you this’, or ‘This will be hard to hear’. She reeled off a list of things that were wrong, including a chest too small to allow the lungs to fully develop, very little amniotic fluid, and the fact that the baby was still curled up was clearly a bad sign. Our world was crumbling as she spoke, our anticipated future of having a third child disintegrating before us. Meanwhile, we were being bombarded with decisions we’d need to make: whether or not to continue the pregnancy; when and how to deliver the baby; what medical interventions were to be offered after birth if needed; whether to consider using the services of a hospice.”
The Atheron’s say the diagnosis and how it was delivered was “overwhelming”, and that they couldn’t take it in.
“She felt so alive to me and yet here we were, being presented with the likelihood of her imminent death. Even the way the consultant communicated the news seemed to deny the humanity of the baby I was carrying in my womb and whom I’d felt move since 14 weeks. Would you tell a parent one of their children had inoperable cancer with so little compassion? We were told we could choose to terminate the pregnancy at any point up to birth, as if that were a reassurance. I was unable to sleep that night, feeling my whole being had been shattered into tiny pieces; pieces that might never fit together again,” Beth remembers.
Family and friends were “incredibly supportive and loving” and Beth says she learned that “there isn’t a ‘right thing’ to say but that reaching out and saying anything shows care – just ‘I’m so sorry’ can be all that’s needed. There were times I wanted to pretend this wasn’t happening and my life was normal. I was grateful my children kept me so busy and distracted that I couldn’t contemplate the expected future very often or camp out in my distress.”
A community nurse fought for the family so that they could avail of perinatal hospice care, which Beth says made all the difference.
“We never considered termination an option. I was determined to carry this baby as long as she lived and, like Hudson, celebrate every day: every movement was a gift to signal she was still alive,” she said. She and Paul also stormed heaven with prayer. One difficult night, Beth says she “wept and pleaded silently with God for life for this baby”.
“I also met a mother whose son Gabriel had lived for three months, and heard all about his precious life. Through SOFT UK, we found other families going through exactly the same situation and a monthly online call with them allowed us to share our painful journeys very closely.”
“I also got in touch with a charity in Ireland called Every Life Counts who were very supportive and helped me write a birth plan, both for a still birth and a live birth. They sent a box with tiny baby sleep suits and gifts for the baby, recognising her as a precious little life and not a medical issue,” she said.
ANOTHER EXPERT
As the months went by, Beth had another scan. “Our next scan was with a different consultant who, surprisingly, had a contrasting opinion. ‘This baby looks like a normal baby to me,’ she said, ‘just a very small one.’ She explained that the NIPT/SAFE blood test we’d had is a screening test, not a diagnostic test, and we’d only know for sure if we had an amniocentesis. I didn’t want to take the risk of miscarriage this procedure presented so we turned it down, but we did take up the offer of a scan in a more specialist hospital. Could the results be wrong? Were we dealing with something completely different?” she says.
However, at the specialist hospital, Beth and Paul were taken aback at the opening question of the Professor they met with, an expert in his field: ‘You’ve already seen two consultants; why have you come to see a third?’
“The Professor’s manner however was warm and friendly as he took over the scan from a member of his team, zooming in on our baby’s heart to show narrowing of a valve, which he told us was pulmonary stenosis. This medical issue would be operated on if the baby didn’t have a genetic condition but, left untreated, could cause heart failure. Another issue seemed to be in her mouth – an incomplete circle indicating the likelihood of a cleft palate. She’ll never be able to feed orally, he told us.”
“All of this confirms the diagnosis, he affirmed, and anyway, even without the big structural defects, babies with Edwards’ don’t survive because nothing works as it should – their hormones don’t function correctly, and nor do their enzymes. It was like he was trying to convince us there was no hope, prove the diagnosis was correct and minimise our expectations. Over and over I was shocked at how little care would be offered to babies with this condition, almost as if it’s a waste of resources to prolong their lives or offer treatment for treatable ailments if they have a life limiting condition,” Beth remembers.
They left the hospital feeling vulnerable and exposed, but determined to pray and celebrate every day, every movement, with baby Hope. “Our best case scenario at that point was to have a disabled child with complex medical needs who lived up to a year. We had no idea what was to come..” says Beth.
HOPE IS BORN – WITHOUT TRISOMY
“Our baby daughter came out pink, breathing by herself and crying heartily. There was no cleft palate and no heart murmur to indicate pulmonary stenosis. It was like the most incredible dream, a daydream I’d once had where she looked so healthy at birth and cried so loudly that everyone in the room knew she was well. This was not the kind of baby we’d been led to expect,” says Beth.
“She was 1.75kg, 3lbs 14oz, and was soon taken to SCBU (Special Care Baby Unit). That night I spent alone in the delivery ward’s High Dependency Unit after a bleed, experiencing intense pain and incredible joy and gratitude, all at the same time. She was alive! Alive and seemingly well! Her name is Hope, we announced. Hope Elizabeth.”
“A week after she was born, her paediatrician sat us down for the first set of results from genetic testing. ‘Hope does not have the full form of Edwards’ syndrome,’ he assured us. Our world and our expected future had changed again.”
“A geneticist visiting our local hospital from the specialist one had a cancellation the next day and was able to check Hope over and talk with us.
She explained that the blood test we’d had had picked up cell free DNA in my blood stream only from the placenta, not from the baby. She drew a diagram to show how the full version of a genetic condition affects every cell in the body but there’s a mosaic version, where only some cell lines have the extra chromosome. She went on to say that in rare cases, the cells with the extra chromosome are confined to the placenta and are not in the baby at all.”
“‘Not in the baby at all…’ This phrase started to sink in. Hope could have no level of Edwards’ at all. It was like a light dawning; the hope we’d clung to of having some time with her expanding and flooding the room as we realised there might be no limits on our time with her, nothing stopping her from leading a full and healthy life,” Beth says.
“In the days that followed we scrambled to get our house ready again for a newborn, grateful beyond words that we were bringing her home, a baby we’d get to see grow up. The care in SCBU was exemplary, where she was tube fed for twelve days, and then we managed to establish bottle and breast-feeding at home. Good news followed good news when further test results didn’t pick up any affected cells in her blood stream at all.
“Nine months on, she continues to meet all the developmental milestones at the pace of a small baby. She’s rolling over, sitting up, loves food and playing with hair, she sucks her fingers and smiles and laughs at interactions with her siblings who love her very much.”
SHE WILL ALWAYS BE OUR LITTLE MIRACLE
Beth says that every day now feels “almost unbearably precious, the disturbed nights a joy as we get to hold Hope in our arms”.“I find myself incredibly protective towards her, as if the world had tried to eradicate her before she’d even been born, but we fought for her, in prayer and in the decisions we’d made. For a while I was haunted by the offered option of termination but when I brought it before God in prayer, I felt Him reassure me, ‘That was why I chose you to be her parents.’”
“She is a delight and will always be our little miracle.”
The incredible, beautiful story of baby Hope is also a cautionary tale. Sometimes a diagnosis can be wrong, and parents can feel pressured into abortion after a diagnosis that is mistaken.
The tragic case of Baby Christopher, aborted after a misdiagnosis of Trisomy 18 in Ireland’s National Maternity Hospital revealed for many the danger of trusting entirely in tests which can be wrong. In fact, a recent investigation by the New York Times showed that prenatal testing was incorrect significantly more often than people imagined.
The amazing story of Baby Hope should teach us the value of giving every baby every chance, and knowing that every life is precious.
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TRISOMY 18 or EDWARD’s SYNDROME arises because of the presence of an extra chromosome. There is a significant risk of miscarriage before birth, but, quite contrary to recent reporting, studies have found that the average duration of survival for children who lived until birth with Trisomy 18 was 14.5 days; with 39% of babies surviving for more than a month, while 8.4% survived for more than a year.
Rasmussen SA, Wong LY, Yang Q, May KM & Friedman JM (2003). Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111(4 Part 1):777-84.
Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival And Surgical Interventions For Children With Trisomy 13 And 18, Journal of the American Medical Association,. doi:10.1001/jama.2016.9819.
Vicky Wall works with Every Life Counts
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