Amelia and Lena's GOSH family

Amelia and Lena are sisters. They both have a condition called Spinal Muscular Atrophy (SMA).

They have both been part of different research trials at GOSH, advocating for pre-screening, and coming to our hospital for over a decade.

We previously shared Anelia and Lena's story in January 2022, when a team from Great Ormond Street Hospital (GOSH) and the UCL GOS Institute of Child Health (ICH) showed how ‘blood spot’ testing new-borns could identify children who will go on to develop Spinal Muscular Atrophy, (SMA).

Read how pre-screening for Spinal Muscular Atrophy could change lives.

Mum, Dorota, noticed Amelia, wasn’t walking normally when she was around 12 months old:

“We didn’t know anything was coming for Amelia and it was really a shock when she started to get ill. She was perfectly fine until she was a year old and then suddenly she started to walk with a ‘wobble’."

Amelia was diagnosed after symptoms started to appear and she now uses a wheelchair because of her condition. She was referred to GOSH, as part of a clinical trial here and will soon transition to adult care.

Lena, Amelia’s little sister, was screened for the genes for SMA just after she was born and was found to have the condition, although she had no symptoms. The GOSH team offered for Lena to take part in research to have a new gene therapy, Zolgensma, in an attempt to combat the SMA early.

Lena was treated and is now meeting all the milestones for her age and enjoys chasing her big sister (and the rest of the family) around.

Dorota said:

“Getting Lena’s diagnosis was the start of making a major treatment decision for her – even before she had symptoms - but for Amelia, we had years of uncertainty and years of major decisions over and over. The situation for them both has been very different.

"Amelia was Lena’s saviour.

“Without Amelia’s diagnosis, Lena wouldn’t have been able to have the help she needed. They have a really strong bond. Like all sisters, they fight and get mad but, when they’re apart, they really just want each other!”

You can scroll through the pictures below to see just some if the teams that have come together to support the sisters and their family.