Evelina London hosts a fun-filled get together for children and young people with galactosaemia

Families recently attended a special party for children and young people with galactosaemia, a rare inherited metabolic disorder, at Evelina London’s Ronald McDonald House.

The paediatric inherited metabolic diseases (IMD) service at Evelina London organised an afternoon tea party so that some of the children and families of children with galactosaemia could meet each other and share experiences. The team, including Dr Roshni Vara, consultant in paediatric metabolic medicine, Jordan Cox, clinical nurse specialist, Kalpana Shah, metabolic dietitian and Gulshan Karim, dietetic assistant, organised a vegan afternoon tea, a children’s entertainer, face painting and a quiz station.

Inherited metabolic diseases are a group of rare disorders that can lead to a dangerous imbalance of chemicals in the body. These can result in organ damage and long-term complications, including neurological issues.

Galactosaemia is a condition that affects the way the body breaks down galactose, a type of sugar found in foods. Galactose mainly comes from lactose, and lactose is the sugar found in milk, milk products and most cheeses. If galactose is unable to be broken down, toxic chemicals can build up in the blood.

Babies born with galactosemia can present with the condition in the first few days or weeks of life with symptoms of vomiting, jaundice, liver dysfunction and can be very sick with liver failure. The treatment for galactosaemia is a strict lactose-free diet avoiding all animal milk products (including breastmilk).

Despite treatment, long term complications can include learning difficulties, speech and language difficulties and fertility problems in females. The exact cause of these still remains unclear and can vary in severity from one child to the other.

One of the special guests who attended the party was baby Imogen and her family. Imogen was diagnosed with galactosaemia at just 9 days old when she was already in hospital unwell. Newborn screening tests had shown that her liver was not functioning well, which is an indicator of galactosaemia.

Imogen’s mum, Amelia, explains: “After Imogen’s initial diagnosis, we were transferred to Evelina London Children’s Hospital and we were immediately put at ease, which was something we had not felt for a long time. The next morning, we met with Dr Vara and the team, and we were talked through exactly what would happen and asked if we had any questions, which were all answered.

We cannot put into words how amazing the Evelina London team has been. Imogen's stay at Evelina London Children’s Hospital was brilliant. We have two other children, which I had been apart from for two weeks, so we made the very hard decision to stay away from the hospital, but with very regular visits. We were able to call at any time, so even if I woke in the night I could check how my baby was doing. She had exceptional care, and there was always a nurse nearby for us to check in with. We will forever be extremely grateful to Evelina London.

Imogen is currently thriving, but Amelia explains that being able to contact the team for support continues to be invaluable: “Having a child with galactosaemia can be challenging at times. For us, it’s the constant worry, worry that she will consume galactose. We have concerns for her future, because there is a risk of learning difficulties, premature ovarian insufficiency and other complications. However, my advice for other parents in a similar situation is to make the most of every second with your little one as they grow so quickly, and you can miss special moments if you're always worried about the future. Easier said than done I know!

Dr Vara and the team have been incredible. I can send an email and get a reply almost straight away. It’s an extremely rare condition that most people have never heard of so we have had many questions, which they never fail to answer.

Dr Vara and the multidisciplinary team provide a unique specialist clinic dedicated to children with galactosaemia. The team also help children to transition to adult services from the ages of 14 to 16 years.

The clinical teams at Evelina London put on events, like the party for children with galactosaemia, to provide an opportunity for families to connect and learn from one another. Many families find comfort in meeting others in similar circumstances, particularly when caring for a child with a rare condition.

More about Evelina London inherited metabolic disease service

Evelina London is one of the main IMD centres in the UK, offering treatment to patients with all types of IMD. This includes procedures for diagnosis and acute and long-term management.

Find out more about Evelina London’s inherited metabolic disease service and the range of conditions we treat.