Our Star Appeal raised £3.65 million to create the UK’s first centre for the care and treatment of children with rare diseases. The centre, which is due to open in early 2018, will improve the coordination of care, diagnosis, treatment and quality of life for children and young people with rare or undiagnosed medical conditions.  

Thanks to the generosity of our supporters, we will also have the capacity to bring children with the same rare condition together in the same place, at the same time to help to address the fear and isolation so many of them experience.

We are seeing more and more patients with very rare and complex conditions and each and every of these children deserves to be treated in their own unique and personalised way.  That’s exactly what this new centre will do.

Meet our little stars


Matilda is a bright, cheeky seven year old who loves school and is an avid reader. She is one of only a handful of children worldwide to have an extremely rare genetic disorder called Sensenbrenner Syndrome.

Stensenbrenner Syndrome is a multi-system disease that affects many parts of the body including the liver and kidneys. Matilda has already undergone a kidney transplant and it is likely she will need a liver transplant in the future. She also has an enlarged heart valve, paralysed spleen, short upper limbs and a short rib cage. Stensenbrenner is also characterised by craniofacial problems including fusion of the skull which can inhibit brain development. Fortunately in Matilda’s case this hasn’t happened and she does not have a learning disability.

The disorder is so rare that it took until Matilda was three years old to confirm the diagnosis. She and her family have never met another child with Stensenbrenner although they were recently contacted by a mother in Canada who had learned that her child had the same diagnosis.  Little is known about the condition and the family has struggled to find up-to-date and relevant information.

Matilda is spends a great deal of time in hospital, often being admitted for several weeks at a time, then being sent home for a few days only to return again. In between in-patient stays she also has to attend for regular blood tests, check-ups and clinics. Her mum Michelle and dad Les are used to the constant upheaval and disruption to family life. With two older daughters– 18 year old Megan and Molly who is 16 -  they face a constant round of juggling schedules and trying to ensure that they keep things as normal as possible.

Noah and Ruby

Brother and sister, Noah and Ruby, both have a rare inherited metabolic condition called Glutaric Aciduria Type 1, which turns the protein in food into a toxin that affects the movement of part of the brain.

Noah wasn’t diagnosed until he was 10months old and as a consequence, is more severely affected than his younger sister, who, thanks to early intervention, was diagnosed shortly after birth.

Noah suffered a metabolic stroke prior to his diagnosis and as a result, he had a separate condition called Distomia, which causes spasms and muscle stiffness and means he is unable to walk or talk.

Despite the constant worry that eating the wrong foods could have catastrophic consequences for Noah and Ruby, their mum, Rebekah, never want them to feel afraid. She says,

It’s not about perfection, I just want them to make as much progress as possible and be as happy and healthy as they can be.

Rare genetic diseases often affect more than one family member.  Our new Rare Diseases Centre will be able to provide more co-ordinated care for siblings like Noah and Ruby, and will offer practical help, advice and support to families coping with enormous pressures.

Many families of children with rare conditions have to balance constant hospital admissions and appointments with other family commitments.  This, coupled with a lack of information, leaves many families feeling isolated and lost as they try to navigate the healthcare system and search for answers.