Fighting Genetic Mutation: Family To Host Marbella Gala In Hopes Of Cure For Grandchildren

ONE Marbella grandmother is rallying the community in a heartfelt effort to combat a rare genetic mutation affecting two of her grandchildren. 

Zoe’s family has been thrust into an unexpected battle after her children were found to have a highly rare gene mutation in the DHDDS gene.

With only 60 documented cases of the genetic mutation worldwide, the family is determined to both raise awareness about it and funding for the children’s healthcare.

Zoe’s daughter, Melanie, has been incredible in the fight against this genetic condition, setting up a registered charity, website, and social media pages. Despite gaining the interest and backing of scientists and research facilities, the family still needs support.

Fundraising events

The family, which is based in the UK, is also embarking on a sponsored walk with supporters tomorrow, on Sunday, July 9, covering an epic 50 kilometres from Windsor to Mortlake.

In Spain, Zoe is planning an amazing charity day at La Sala in Marbella on Friday, September 22 to raise awareness and funds for research into the genetic condition.

The dazzling charity event will feature a fashion show, live music, and an auction. Further details about the event will be released closer to the time.

Speaking to Zoe, she explained that their fight is significant across the world, despite her grandchildren living in the UK, as the genetic mutation could affect other people.

Zoe also highlighted the frightening reality of living with a genetic mutation with only 60 documented cases worldwide.

Raising awareness

Zoe and her family plan to continue their media campaigns, including radio interviews, to ensure that the cause cause receives the attention it deserves.

Meanwhile, in the UK, the family is also raising awareness about the genetic mutation.

The children’s uncle and former Eastenders and Doc Martin actor Joe Absolom raised awareness during an appearance on Channel 4’s ‘Steph’s Packed Lunch’. During the programme on Friday, June 30, he discussed his niece and nephew’s genetic mutation and the fight they face.

Despite the tough situation the family faces, they are determined to get the best care and research into the condition for the children.

To learn more about the family’s fight against the genetic mutation, visit their website here.

What is a DHDDS mutation?

A DHDDS mutation is caused by changes to the DHDDS gene which is a protein coding gene. Mutations can have neurological effects.

Symptoms of the genetic mutation include tremors, seizures and learning difficulties among others. It can only be diagnosed with a specialist genetics test.