Family stories

Oscar has neurofibromatosis type 2, a rare condition that causes multiple slow-growing tumours in different parts of the nervous system, including around the brain and spine.

Poppy has a rare neuromuscular condition which has left her with paralysis and weakness in her upper body and core. She has benefited from taking part in Frame Running, a sport developed for young people with limited mobility.

Eva has progressive familial intrahepatic cholestasis type 3 (PFIC3), a very rare inherited liver disease that over time causes severe damage.

At three months old Mylo was diagnosed with congenital cytomegalovirus (CMV) a common and usually harmless virus but it can sometimes cause serious disabilities in babies who contract it during pregnancy.

George was diagnosed with lung surfactant deficiency (ABCA3 deficiency) as a small baby.

Two-year-old Emmy has Vici syndrome, a very rare and life-limiting genetic disorder. Sadly, there is currently no cure or effective treatment and most affected children lose their lives at a very young age.

Evan was diagnosed with medulloblastoma when he was 15 months old.

Naomi has a rare, inherited skin disorder called epidermolysis bullosa simplex (EBS) which means her skin is fragile and blisters easily in places where it is rubbed or scratched.

Henry was born with a genetic heart disease called hypertrophic cardiomyopathy (HCM).

Ten year old Robi has a rare, inherited type of anaemia called congenital dyserythropoietic anaemia type 1 (CDA-1).

Paddy has a rare disease which has no cure and has left him severely disabled. Since he was a tiny baby, he has suffered thousands of seizures. Most devastatingly of all, children with this condition often don’t live into double figures.

Siblings Rosie and May have been severely impacted by the effects of COVID-19 and continue to suffer, both physically and mentally, with the long-term effects of the virus – also known as long COVID.

Siblings Oscar and Isla avoided peanuts from a young age due to having allergic reactions. Their lives changed drastically since they enrolled in a peanut allergy research project at Imperial College London using oral immunotherapy (OIT).

Brothers James and Samuel both have X-linked lymphoproliferative disease (XLP) – an extremely rare and life-limiting, inherited disease. The boys both underwent bone marrow transplants and youngest Samuel is doing well. Sadly, James suffered extensive brain damage and requires round-the-clock care.

Fletcher was born extremely prematurely at 24 weeks and 4 days, weighing just 705 grams. He endured 15 weeks of treatment in the Neonatal Intensive Care Unit (NICU) due to serious complications including sepsis, E.coli infection, pneumonia and necrotising enterocolitis (NEC).

Finley has Diamond-Blackfan anaemia, a very rare condition where the bone marrow fails to produce enough red blood cells. There is currently no cure, so children like Finley rely on long-term treatment.

Aged just eight and previously healthy, Beatrice endured the terrifying effects of autoimmune encephalitis – a rare type of brain inflammation, which caused her to lose the ability to walk or speak for several months.

Danny’s family are painfully aware that time with their youngest son will be cruelly cut short by Hunter syndrome, a rare disease with no cure and limited treatment options.

Sophia was diagnosed with spinal muscular atrophy type 1 just before her first birthday. This rare disease causes loss of movement and muscle wasting.

Little Wilfred's sunny nature is especially precious to his parents, who feared they would lose him to dangerous bowel disease NEC after he was born prematurely.

With cerebral palsy affecting one side of his body, Ian faces difficulties with his muscle strength, stiffness, co-ordination and balance.

Edward developed debilitating dystonia when he was 16 months old. It caused him to suffer uncontrollable, painful spasms – and his case was one of the worst doctors had ever seen

Born prematurely at 34 weeks, baby Ella developed a serious chest infection called bronchiolitis, most commonly caused by the respiratory syncytial virus (RSV).

Matilda has the very rare neurodegenerative disease Niemann-Pick disease type C (NPC).

Little Sophia who has cystic fibrosis lives with a daily treatment regime to help protect her lungs.

Alice, who was born prematurely at 32 weeks, faces a lifetime of challenges because her ability to move is severely impaired by cerebral palsy.

Millie, who was born at just 28 weeks, is a loving child with a startlingly mature awareness of her twin sister Scarlett, who tragically died aged just one month.

Kai suffers from a serious lung disease called PCD. Children with this rare condition have a persistent cough from birth and face a lifetime of recurrent chest infections. They often develop hearing loss and eventually permanent lung damage.

Elijah was born extremely prematurely at 25 weeks and three days, weighing just 823g and, sadly, lived for just 37 days.

Felix was diagnosed with high risk, stage four neuroblastoma aged just four and tragically lost his life after two years of gruelling treatment.

Tom was diagnosed with quadriplegic cerebral palsy before his first birthday and discovering that their baby son would face a lifetime of disability was heartbreaking for Maria and husband Terry

Baby Luka was born very prematurely at just 30 weeks. He contracted the serious bowel disease NEC but thankfully he survived after emergency surgery and is now a healthy one year old.

The determined cries of her one-year-old son mean the world to Rachel and her husband Carl, since little fighter Jacob was born at just 30 weeks after Rachel developed the serious pregnancy complication pre-eclampsia.

Georgia was a healthy baby but at around 12 months old, her stools became looser and she developed a severe rash. After becoming very unwell with a high temperature she was admitted to hospital.

After emergency tests in hospital, Inge was given the shocking news that she had a life-threatening pregnancy complication. Baby Emma was born 12 weeks early, weighing just 1lb 13oz and measuring less than 30cm long.

Shortly after his birth, Robbie was diagnosed with a condition called Pierre Robin Sequence. He had difficulty feeding and breathing due to a cleft soft palate and a small, receding lower jaw.

Aiden suffered from a shortage of oxygen at birth and was whisked away to the intensive care unit where the team began to reduce his body temperature to protect him from brain damage.

Freya was born three months early weighing just 2lbs 4oz after Steph developed a life-threatening pregnancy complication.

Recalling the time when her daughter Sophie’s seizures first began, mum Anne says: “Sophie first noticed something unusual happening when she was cross country running aged 11.

When little Noah was diagnosed with the rare disease Landau Kleffner syndrome, doctors told his parents Madeka and Ryan, ‘Don’t look it up because it will really scare you’.

When Joey was just four years old, his parents Darren and Kathryn faced the terrible news that their little boy had a brain tumour.

Discovering that three of their children have the devastating, rare condition juvenile Batten disease has, says mum Dee, left the family feeling numb.

“Isla is always very positive. She copes well – but she has a lot of pain,” says Karen, whose daughter has the rare, disabling neurological condition Charcot-Marie-Tooth disease (CMT).

Alfie is a lively nine-year-old who loves jokes and playing tricks on people. “He’s a cheeky boy who always wants to have fun,” says mum Samantha. But for Alfie, who has cerebral palsy, having fun is a daily struggle.

Born extremely prematurely, Jack has made remarkable progress. He is now a happy pre-schooler but, due to his early birth, faces potential health and developmental issues as he grows up.

Natasha wasn’t able to hold her daughter until she was five days old, so cuddles are even more precious now. Baby Sophie was born blue and totally unresponsive due to complications which led to her being starved of oxygen.

Jessica had a heart problem called hypoplastic left heart syndrome (HLHS) which affects one baby in 5,000. The left side of her heart was much smaller than usual, and could not pump enough blood to the body.

Twins Lucas and Oscar are the best of friends even though they are very different. Their mum, Meg, feels blessed that both boys are happy and healthy, as they were born very prematurely, at just 31 weeks.

Sam and Josh are identical twins and were diagnosed with autism spectrum condition (ASC) when they were six. They have a strong need for routine, find it hard to understand other people’s feelings and viewpoint, and their behaviour can be challenging.

Jo was admitted to hospital for emergency surgery 29 weeks into her pregnancy and nobody knew what the outcome would be. Thankfully, she and husband are now the proud parents of Samuel, who survived being born at just 30 weeks.

Emily was born at just 34 weeks after her mum, Tracy, developed pre-eclampsia – a condition which affects up to eight per cent of pregnant women worldwide and is a leading cause of death and illness in both mothers and babies.

Lucy and Olivia were born at just 25 weeks and five days, weighing a tiny 1lb 12 oz and 1lb 9 oz. Both babies came out crying but the following weeks were a rollercoaster of fear and worry for parents Gemma and Will.

Francesco developed worrying symptoms when he started school and was eventually diagnosed with LKS. The condition robs children of the ability to speak and understand language and can also include behavioural problems and autism spectrum symptoms.

Nearly a month after Joshua was born, tests revealed that he had Jeune syndrome, a rare and incurable hereditary condition. Babies with Jeune syndrome are born with short arms and legs and an unusually narrow ribcage.

Daisy, who was born 13 weeks early, is now at school and has recently started gymnastics - and has become a big sister to baby Poppy, who also arrived early, five weeks before her due date. But Daisy's earliest days were a roller coaster of ups and downs.

Emma’s arrival was problem-free but, when she was just nine days old, mum Nicky received a call from Lewisham Hospital Paediatric Team asking to see her daughter as a matter of urgency.

For Maria and husband Terry it is an especially precious memory leaving hospital with two babies, since the serious pregnancy complication pre-eclampsia resulted in the twins being born two months early by emergency caesarean section.

Tom was diagnosed with Duchenne when he was four, but his parents were concerned about him from his earliest days.