A COUPLE whose “bravest most beautiful” daughter died after living with a rare genetic disorder have told of their devastation of learning her little sister has the same incurable condition.
Gail and Martin Rich said it was a “devastating blow” to learn their kids Nicole, 11, and Jessica, eight, shared the illness that attacks the brain and the nervous system.
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Little Nicole Rich was diagnosed with neurodegenerative Batten disease, which affects just 14,000 children globally.
But tragically, seven years after her diagnosis, Nicole lost her long fight following complications with a chest infection last October.
Nicola’s sister Jessica also has Batten disease – but became the youngest child in the world to be diagnosed at just 15 months after receiving tests shortly after Nicole received hers.
Now eight, Jessica received cutting edge regular treatment which has allowed her to live a normal and happy life with the condition.
Mum Gail, who also has a son Louis, 13, – who does not have the condition – explained the extremely rare chances of both girls having the defected genes.
The 46-year-old told the Scottish Sun she now wishes to raise awareness of signs of the disorder so it can be treated as soon as possible.
She said: “Me and my husband got two sets of genes – one is faulty- but we are both carriers.
“Our children had a one in four chance of getting it.
“We never had ill health, we had no idea we were carriers of this gene, so it was a devastating blow.
“A child with Batten Disease is born seemingly healthy and can reach developmental milestones.
“But it is when they then they reach the age of three, they can start to regress, start wobbling when they walk and can stop speaking.
“It’s like a child can reach a peak, and then everything starts to go, they struggle to walk, talk, feed, use the toilet, then there are seizures, loss of vision, and then they become fully dependent on their adults again.”
Now Gail and her husband, Matthew, 36, from Newcastle will this weekend travel to Scotland to join thousands of fundraisers who will walk 23 miles from the city‘s Glasgow Green to Balloch on the banks of Loch Lomond.
Ahead of Sunday’s walk in memory of the youngster, Gail described her “daredevil” Nicole as having “the most beautiful laugh and melted everyone’s heart who met her.”
She continued: “Nicole was surrounded by love from the second she was born, this year we are walking in her memory, and the future of other children with this condition.”
Nicole – who was non-verbal – was able to have an “amazing quality of life” due to regular brain infusions and traveled the world to places like Dubai and Lapland with her parents, and siblings.
Jessica later became the youngest person in the world to be diagnosed and treated for Batten’s disease aged just 15 months.
The family traveled to Hamburg in Germany every two weeks for over ten months to take part in the ground-breaking treatment not yet available on the NHS.
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Gail explained: “Nicole was four and a half when she got the diagnosis, so she lost a lot of her skills by then.
“Jessica had an intervention at 15 months, she was just a baby, and while she never developed full symptoms- she is eight now and walking talking, scooting – you wouldn’t know she had it.”
Dad Matthew, 36, who is originally from Glasgow, and his mum Liz, who still lives there, and will also be walking the Kiltwalk with Gail, said Sunday’s walk will give them the chance to reflect on Nicole’s short but special life.
Gail added: “This has taught us to not look too far into the future – nobody can tell you what’s coming along, we thought we had years left.
“Nicole was our strongest little girl in the world, we are so proud of her – now we just want to do her proud.
“We are walking in her memory – but also for Jessica’s future.”
To donate to the Nicola & Jessica Rich Foundation visit here.
The sold-out Glasgow Kiltwalk will take place on Sunday.
Read more on the Scottish Sun
The next walk takes place in Aberdeen on 02 June, then St. Andrews to Dundee on 11 August, finishing in Edinburgh on 15 September.
To sign up for the three remaining Kiltwalks this year, visit www.thekiltwalk.co.uk.