After an 'awful' pregnancy, little Jacob was welcomed to the world six weeks early - and just hours later, doctors were forced to deliver yet more devastating news as they realised the baby had been born with leukaemia.
Laura Stubley Down, a 35-year-old processing manager, said it was a “nightmare” to learn Jacob, born via IVF last July, had a rare form of the disease. Laura, with her wife Tracey, a 45-year-old shop manager, said Jacob was born six weeks early after an “awful” pregnancy.
Just eight hours later, the couple were told their son had suspected leukaemia and he was later diagnosed with transient abnormal myelopoiesis (TAM), a rare bone marrow disorder which usually only appears in newborns with Down syndrome. Jacob is only the 21st reported person without the condition, but now eight-months-old, his parents are celebrating that he is miraculously in remission.
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“It had been a difficult pregnancy and when Jacob arrived six weeks early we were utterly overjoyed at becoming first-time parents, but it was not long before everything changed,” Laura said. “Finding out that your newborn has leukaemia was overwhelming. My world just stopped and I didn’t know how to process it.
“It’s been a stressful time and Jacob has been through a lot so to have him home with us now and in remission is just the best.”
Laura and Tracey, who met 12 years ago and tied the knot in 2016, started IVF in December 2020. Initially, the couple, who live in Hertfordshire, hoped to use Tracey’s eggs for Laura to carry but after two unsuccessful attempts, the couple used Laura’s eggs for the embryo transfer in November 2021.
Laura said: “It was quite an emotionally draining experience so to find out I was pregnant was both exciting and a relief. But the actual pregnancy was awful; I was so sick and in constant pain.
“I was monitored regularly but as the weeks went on I had a weird feeling that something wasn’t right.”
On June 29 2022, Laura went to hospital after fearing she could not feel her baby moving and returned the next day for a scan. Afterwards, Laura was scanned daily and found out she had polyhydramnios, where there is too much amniotic fluid around the baby.
On July 4, at 34 weeks pregnant, Laura’s waters broke in the middle of the night and she was taken to hospital. Jacob was born via emergency C-section on July 4, weighing 5lbs 8oz.
Laura said: “All seemed fine but, because Jacob was premature, he was taken to the NICU (neonatal intensive care unit) to be checked.
“Tracey was going between the NICU and my ward as I came round from the surgery. At first she told me that Jacob was slightly jaundiced so he was being put under the ultraviolet light. A few hours later, she told me he had a slight temperature but there was nothing to worry about. Then we found out he had suspected sepsis.”
By the morning, Tracey had not long since headed home to sleep when Laura was told doctors urgently needed to speak to them both. “Tracey had literally walked through the door at home when I rang and told her she needed to come back,” Laura said.
Returning to the hospital, Tracey and Laura were taken to a private room where they were dealt the devastating news that Jacob’s blood indicated suspected leukaemia. As a result, the youngster needed to be taken to Addenbrooke’s Hospital in Cambridge for further tests.
Laura says her “world stopped” as she was given the news, adding: “I couldn’t comprehend how a baby can be born with cancer. It didn’t feel real. I don’t think I actually processed any of it until I had to start telling other people about Jacob’s condition.”
As Laura was still recovering from her operation, she stayed behind as Tracey and Jacob were driven to the other hospital, with Laura joining them the next day. Once there, Jacob underwent tests and it was suspected he had congenital leukaemia, a rare blood cancer which develops in the womb and is seen in only one of every five million births.
After various rounds of testing and many hours of discussion, Jacob was formally diagnosed with TAM. “Doctors thought that it was likely Jacob had mosaic Down syndrome, which is a rare type where all the features were not shown,” Laura said.
“It was very tough to hear all of these complications about our newborn. It was a lot to take in.”
Mosaic Down syndrome occurs in about 2 per cent of all Down syndrome cases. People with mosaic Down syndrome often – but not always – have fewer symptoms of Down syndrome.
At five days old, it was discovered that Jacob had excess fluid around his heart and he underwent a procedure at Great Ormond Street Hospital to have it drained. But within a week the fluid returned.
Determining that it was Jacob’s white blood cell count due to his leukaemia causing the fluid, the tot was treated with chemotherapy administered intravenously. After seven shots of chemo and four blood transfusions, the treatment was a success.
Laura said: “As of August 2022, Jacob has been in remission, which was just the best news.” Genetic tests show Jacob does not have mosaic Down syndrome, making him the 21st reported case in the world of an infant having TAM without Down syndrome.
Tracey and Laura were able to bring Jacob home in August and say they have been enjoying settling into normal family life. Laura said: “It was quite emotional getting to bring him home for the first time and now he’s like any other eight-month-old.
“He has a vibrant personality. He’s very boisterous, quite demanding and very clingy which I think stems from spending so much time in hospital.”
Jacob will go to Addenbrooke’s Hospital to have his blood checked every three months until he is five. Laura said: “It’s worrying because there’s a 20% chance it could come back as full-blown leukaemia but I’m thankful that they check him so regularly.
“I’m incredibly grateful for the staff at Addenbrooke’s Hospital and Great Ormond Street Hospital for the great care they took of Jacob.”
The family say they are also grateful to The Sick Children’s Trust, which provided accommodation while Jacob was in hospital. Laura said: “The Sick Children’s Trust came to our rescue. We were given a place to stay at their Chestnut House ‘Home from Home’, which was located just two floors beneath the NICU where Jacob was being treated.
“It was a huge relief to have this clean, homely and comfortable place to rest and shower, keeping us close to Jacob while also allowing us a moment to process everything that had happened in an exhausting, traumatic few days.” She added: “We will always be incredibly thankful for Chestnut House being there for us when we needed it most, keeping us close to Jacob.
“To say thank you, Tracey raised £150 for The Sick Children’s Trust in lieu of birthday gifts and my work colleagues at The Dog’s Trust charity raised £635, which I know will help other families in similar situations to the one we faced. We hadn’t heard of this wonderful charity until we desperately needed them and we cannot thank them enough for everything they did.”
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