Toddler with rare illness ‘rings bell’ after transplant thanks to his six-year-old donor sister
Jakob, who has an extremely rare illness, was able to have a bone marrow transplant thanks to his six-year-old donor sister and has rung the ‘end of treatment’ bell to celebrate.
Doctors gave Jakob, who has spent more than half his life in hospital, just a 30% chance of surviving the procedure but he defied the odds. He is now back at home near Durham after being on the transplant isolation ward at The Great North Children’s Hospital, Newcastle, since April 2023.
Rainbow Trust Family Support Worker Jen has been supporting Jakob, 18 months old, his sister Freya and parents Nicola and Mark since April 2023.
Jen visited Jakob every week to give Mum some much-needed respite as Jakob couldn’t be left alone. Mum Nicola would stay with him from Sunday through Friday, meaning she was also away from Freya, with dad Mark taking over at weekends.
“Jen was amazing,” Nicola said. “She would come in for two hours’ a week and I would use that time for my sanity so I wasn’t so isolated. Without her I would have struggled a lot more. Sometimes I’d had very little sleep and I needed that time for myself or my friends.”
Nicola describes Jakob, who was diagnosed with the extremely rare genetic disorder MIRAGE when he was six months old, and Freya as inspirational. Nicola said:
“Jakob’s a very complex little man.”
Jakob’s bone marrow did not develop properly and his family are hoping that the transplant will strengthen his immunity and make him less reliant on blood transfusions. Currently tube fed, he has trouble swallowing and has a shunt in his head after having fluid on the brain. He has some development delay.
“But he’s so happy, he keeps smiling at me. He’s alert, he’s interacting, he knows what’s going on, he plays, he sits up and he knows who people are.”
It was Jakob’s need for regular blood transfusions that persuaded them to opt for the transplant.
“If we didn’t do it he would be reliant on blood transfusions and that’s not much of a life.”
When Freya learnt she was a donor match she embraced the chance to help her brother.
“We always said we’d never force Freya to do it. She was with us when she found out she was a match and we told her it was her choice and she was adamant she was going to help Jakob. She was amazing and just took it in her stride. Now she wants to be a blood doctor to help people like Jakob. She’s intrigued, she knows about the different bloods. Freya and Jakob have a really special bond. She says he’s got a piece of her inside him.”
When he was 14 months old, Jakob was admitted to the transplant ward on 28 March to start chemotherapy to cancel out the old bone marrow ahead of his transplant on 6 April. The family had to isolate for two weeks prior and Freya was admitted on 5 April for bloods before undergoing a two-hour donor procedure under general anaesthetic. She stayed on the same ward as her brother for 24 hours and watched him receive her bone marrow, which is similar to a blood transfusion, on Facetime.
Due to complications, Jakob remained on the isolation ward for 16 weeks before ringing the bell on 14 July. Nicola said they had mixed emotions when Jakob rang the bell.
“It was great to know Jakob had made it through the complexities of transplant but we also knew his journey was not complete.”
“It was a very emotional day, especially as his consultant had given 30% chance of him making it home from the transplant and the pressure it puts on such a small person.”
As Nicola says, "Jakob has had a rough ride." Born after an emergency C-section in Durham during Covid, he was admitted to the Special Care Baby Unit where only his parents were allowed to visit. This was very isolating for the family as Nicola spent weeks in a room alone with Jakob. When Jakob was four weeks old he was transferred to Newcastle, staying for seven weeks.
Freya and their older half-sister Caitlyn, 23, didn’t meet their brother until he was eight and a half weeks old
Yet Jakob thrives and the bond between Jakob and Freya is as strong as ever. “They laugh together and get so excited when they see each other,” their mother said.
Nicola made a strong network of friends at hospital and enjoyed coffee mornings hosted by Rainbow Trust.
“Rainbow Trust has been fab. Sometimes you just need to have a cuppa and a nice biscuit,” Nicola said.
Family Support Worker Jen will continue to support the family at home.
Please help us reach more seriously ill children like Jakob by donating today.
