Aylesbury Vale family launch fundraiser for daughter with extremely rare neurological condition

A family in Aylesbury Vale have launched a fundraiser to help improve the life of their daughter who has an extremely rare neurological condition.

Mara Hook, two, from Whitchurch, has a GABBR2 gene mutation which affects her ability to communicate and speak.

Her father Richard was told that there are only two known cases of this mutation in the UK. An international Facebook group the Hook family have joined has identified just 15 mutations matching Mara’s, and the oldest child with this condition is just 11.

Mara also has autistic behaviours and is taking longer to reach certain development milestones than other children her age, issues which are linked to the mutation.

In an attempt to improve Mara’s life quality the family took her to the Stem Cell Institute in Panama last July.

Richard said on Mara’s JustGiving page, which can be accessed online here: “Since returning in July we have seen some amazing improvements in her cognitive ability, physical strength and most startlingly her eyesight. She has for the first time in her life been able to fix and follow, to look people in the eye and really focus on objects . This improvement happened within a few weeks and has steadily improved over the last few months.”

Now the family are hoping to return to Panama so Mara can receive more stem cell treatment. But considering the family is already paying for weekly private treatment and this procedure costs £16,000, the Hook’s are asking for help raising funds.

"We have spoken to many people at the clinic but also other parents who believe the stem cell treatment can be performed many times. The gains are permanent and life changing. We owe it to Mara to try everything in our power to improve her life,” Richard wrote.

He told The Bucks Herald: “She can just about sit up at the moment. Our hope is that she may be able to walk, and run, and jump, and play, and all those sort of things that at the moment she can’t do. From the next round of treatment we’d hope to see an improvement in her cognitive ability. Her understanding of what is going on around her. Even if she can’t necessarily communicate with us she would understand her world a bit more. And physically she can get a bit stronger and potentially see improvement in her eyesight a bit more.

"We accept that there may be only slight chances, but because her base level is so low even slight changes would make a huge difference.”

Other aspects of Mara’s condition are unlikely to improve as a result of further treatment abroad. Richard has acknowledged the stem cell treatment is unlikely to lead to a removal or an outright cure of the mutation. This means her speech and communication difficulties are likely to remain.

The family has set up a Facebook page where people can follow Mara’s progress.