Imogen’s Journey

Imogen’s parents, Nik and Liddy, walk us through what it’s like to raise a child with BBS.
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Imogen’s Journey Early Indications Diagnosis Clinical Care Community & Support Living with BBS What’s Ahead

Early Indications

“About 20 weeks into the pregnancy, an ultrasound revealed that Imogen’s kidneys were echogenic. In following visits, the doctors identified extra digits on her hands and toes as well. While they couldn’t officially diagnose Imogen at this time, they strongly suspected that she had Bardet-Biedl Syndrome.”


“About three months after Imogen was born, we took her in for genetic testing. That’s when we received the confirmation and she was diagnosed with BBS.”

Clinical Care

“Once diagnosed, we were referred to a multidisciplinary clinic for BBS patients, run by Professor Beales, where Imogen is seen every 12 to 18 months. They’re able to cover all of her needs there in one visit.”

Community & Support

“The first time we reached out to the BBS UK group, we didn’t know what to expect. However, they couldn’t have been more welcoming. We now go to the BBS UK conference every year. It’s incredible to see how patients of all ages are adapting and bringing normality to their lives, personally and professionally.”

Living with BBS

“Each day is different for Imogen – and for us. Her eyesight is deteriorating to the point where she is almost legally blind. What’s most challenging to manage is her excessive hunger and the obesity and emotional issues associated with that.”

What’s Ahead

“We’re preparing for the possibility that Imogen could become fully blind and experience kidney problems, as well as other complications. We’ll get through this just like we have done with every other challenge for the last three and a half years, as a family.”