Bhavini’s story: Retinitis pigmentosa

At the age of 16, Bhavini noticed she was developing problems with night vision. She was also struggling with being able to see in bright light and had started to bump into things. She went to her optician expecting to be told that she needed new contact lenses – instead, she was given a referral to her local eye hospital.

Getting a diagnosis

After enduring numerous tests and checks, Bhavini was given the diagnosis of retinitis pigmentosa at age 17.

She explains: “The diagnosis came as a complete shock. I didn’t know anyone else with it. I did not know what it really meant, other than I would go blind. I did not want it to be real.”

Bhavini had been told by doctors her sight loss was an inherited condition and, in 2013, was approached to take part in the 100,000 Genomes Project to determine the genetic cause. She and her parents signed up and 3 and a half years later, they received an answer.

They were told Bhavini’s type of retinitis pigmentosa was caused by an alteration on a specific gene – called RP26 CERKL – and that her parents are both carriers. At this time only 10 families in the UK had been identified with this specific genetic alteration.

Living with retinitis pigmentosa

While many of her friends were applying for university, learning to drive and going to clubs, Bhavini couldn’t join in and struggled to come to terms with her diagnosis.

She withdrew from her family and friends for about 18 months, before she took the first step in continuing her education. She felt university was out of the question now, but she persevered by attending evening classes.

Bhavini continued to be in denial for years and couldn’t accept what was happening to her. Her mother kept telling her to go out and meet her friends, not to worry and that they would get through this.

Eventually Bhavini started to go out and began working in an estate agent’s office. She met her future husband Paresh, who helped her to learn more about the condition.

However, because of taboos and attitudes in her culture, she was nervous about people’s reactions. She hid her sight loss from friends and some family members, preferring people think she was just clumsy rather than telling them what was wrong.

Following the birth of her first daughter, Bhavini’s vision worsened. She continued to pretend things were fine, using tactics such as having a bulky protective pushchair to act as a sort of mobility aid, as opposed to telling people that she could not see properly.

Her vision deteriorated even further after her second daughter was born and as the girls grew up, she began to struggle with finding her way back to her house after dropping them at school. She could no longer see faces, was unable to help with her children’s homework, couldn’t read print (including food labels), go out on her own safely or even match outfits together.

In 2012 she discovered the inherited sight loss charity Retina UK and for the first time met others with the same condition. This was an enormous help and Bhavini realised she was not alone – she had never met another person with a vision impairment or openly spoken about her sight loss.

She cried for days when she talked to others who were experiencing the same challenges – people that were able to share tips on how to cope and manage. She realised that she had longed for this support for 15 years.

The importance of diagnosis

Bhavini explains that knowing the genetic cause has been empowering: “I can tell people exactly why I have it – that it is not karma or because of something I did wrong in a past life – I’m much wiser and understand it. I can also provide support to other people, help raise awareness and break down cultural taboos.

“Having a diagnosis answered so many questions – so many ‘what ifs’ were explained. But most of all, having the facts rather than misconceptions about the reasons for developing my sight loss finally put paid to a lot of stress, anxiety and pressure that I had experienced.”

However, one of Bhavini’s biggest concerns was whether her condition could be passed on to her daughters. She has since learnt that while both are carriers, they will not develop the condition – and this knowledge will prove useful in later years when they are at the stage of thinking about having children of their own.

How whole genome sequencing can help those with retinitis pigmentosa

Bhavini’s sight has continued to worsen, she has no vision in one eye and very little in the other but now has a beautiful guide dog called Colin. She’s busy running and chairing a variety of sight loss groups to raise awareness of genetic testing and counselling.

She also helps people with vision impairment know about the support, services, resources and information that’s available so that they don’t have to live in isolation. Using her blog, she aims to raise awareness of retinitis pigmentosa.

She says: “Even though there may not be a treatment in my lifetime, by taking part in genetic research and encouraging as many people as possible to take part, hopefully others will benefit in the future. If you have an inherited sight loss condition, it’s really important that you have a genomic test – you’ll play a small but important part in progressing our knowledge of conditions like retinitis pigmentosa. It is very stressful when you receive a diagnosis but it will certainly help and support you to make informed choices about you and your family’s future.

“Many people are unaware of what genetic testing is. Raising awareness and informing others about the process and what it could mean is so important, especially to those from ethnic minority groups.

“I am so grateful to have been given the opportunity to take part and to have received my genetic diagnosis. I am on a mission to find others with the same type of retinitis pigmentosa and join my Facebook group. It has helped me in so many ways and has definitely relieved a lot of sleepless nights, moments of anxiousness and worry.”