Hannah and Katie's story Alstrӧm syndrome - Jeans for Genes

Hannah and Katie's story

Twins Hannah and Katie are seven years old. When they were four they were diagnosed with the very rare and complex genetic condition Alstrӧm syndrome, which can affect every organ in the body, though most commonly the heart and eyes.

Their mum Julie first noticed something was wrong when Hannah stopped feeding at three months old. Katie was thriving, but Hannah needed repeated visits to her GP for refusing feeds.

Hannah was transferred to Leeds Hospital where they discovered she had dilated cardiomyopathy and was in heart failure. There was a one-third chance she’d need a heart transplant and the same chance she wouldn’t make it. Julie and the family were told to prepare for the worst. To their relief, Hannah improved and was allowed home on medication, only to be readmitted two weeks later when she stopped feeding again.

‘For the first year of Hannah’s life it was up and down. It seemed to be all feeding and being sick. She had a lot of coughs and colds, which we were told would be drastic for her heart. She was in and out of Harrogate Hospital with chest infections. At the back of our minds was the thought that by the age of one she would need a heart transplant.

‘As we celebrated their first birthdays, Hannah still wasn’t able to eat proper food. She had a gastronomy tube fitted in her stomach at 18 months, when the heart specialist said her heart was strong enough to go through an operation. She didn’t actually eat baby food until she was three.’

As the twins grew up, other developmental problems began to appear. They both had poor vision and wore glasses as toddlers. They had no toilet control and wore nappies at their private nursery. Both the girls went onto a mainstream school, with a statement of special educational needs. They were seeing a variety of professionals for their care, and it was after a meeting of all these experts that the girls were referred to a geneticist and diagnosed with Alstrӧm syndrome.

Alstrӧm syndrome is a very rare autosomal recessive inherited genetic disorder, which means both parents carry the gene although they are unaffected themselves. It is a wide-ranging disorder and can affect every organ in the body. The main organs affected are the heart (causing congenital heart failure) and the eyes. It can cause hearing loss, diabetes and lead to excessive weight gain. Both girls have hearing aids and wear dark glasses to reduce their sensitivity to light. They are at risk from diabetes, so eat a strictly controlled diet. But they love nothing more than playing with their dolls, jumping on their trampoline and caravan holidays by the beach.

‘They are doing very well and they are so strong willed. I’m proud of their determination and their wish to be independent.’