Joy for Newcastle family as treatment for life-limiting illness is made available in the region

A family from Newcastle say their 'dream has become reality' after announcing that a life-prolonging treatment for their two daughters will soon be available at their local hospital.

Nicole, aged 9 and Jessica, aged 5, both have Batten Disease, a rare disorder which causes seizures, loss of speech, reduced mobility and childhood dementia.

For years, Gail and Matthew Rich have had to travel thousands of miles every month to access treatment for their two little girls.

Every two weeks, Nicole and Jessica make the journey from Throckley where they live, to Great Ormond Street Hospital in London. But that will soon be a thing of the past.

From September the girls will be able to receive their bi-weekly enzyme replacement therapy at the RVI in Newcastle.

It has been a long and difficult road to this point.

The family have campaigned tirelessly to ensure their children could access potentially life-saving treatment.

In their fight to save their children, Gail and Matthew were forced to travel hundreds of miles to get treatment for their two girls in different countries. Gail travelled to Great Ormond Street in London with Nicole, while dad Matthew took younger sister Jessica to Hamburg in Germany.

At the time, a pharmaceutical company was covering the costs of the life-prolonging infusions, as the therapy wasn't available on the NHS.

In 2019, after years of campaigning, Brineura was approved for use by the NHS, ending years of uncertainty for the family, who could finally have confidence that their children would receive the treatment they needed to stay alive.

Since then, the family have taken both of their daughters to Great Ormond Street in London, every two weeks to receive their infusions.

In 2019 Gail Rich took part in our ITV Tyne Tees 'Point of View' series, giving an insight into what it is like to have two daughters with a life-limiting illness.

In the moving interview, Gail spoke about the devastating moment her oldest daughter Nicole was diagnosed with Batten Disease.

Gail also opened up about the challenges the family have faced, campaigning for treatment for their girls to be made available.

At the time of filming, both Jessica and Nicole were on clinical trials for enzyme replacement therapy.

Gail said her daughters' futures lay in the hands of the pharmaceutical companies who could decide to pull funding for the trials at any time.

Nicole Rich

Gail and Matthew’s eldest daughter Nicole was diagnosed in September 2016 when she was just 3-years-old.

The diagnosis came after the couple raised concerns that at the age of two, Nicole wasn’t talking.

After several tests, doctors told the couple the devastating news that Nicole had Batten Disease.

Three months later, the family were dealt a further blow, as their youngest child Jessica, was also diagnosed with Batten's.

Jessica Rich

Jessica was able to be diagnosed so early because of her big sister Nicole having the condition. The early diagnosis allowed for early treatment.

Jessica became the youngest person in the world to have pioneering brain surgery to allow her to have the life-prolonging infusions.

As a result of early intervention, Jessica does not have any Batten symptoms.

Batten Disease

What is Batten Disease?

Batten disease is a rare, fatal, inherited disorder of the nervous system that typically begins in childhood

Those diagnosed with the neurodegenerative condition aren't expected to live past the age of eight to 12.

It is estimated that only 30 people in the UK have the disease. There is no known cure for the disease.

Back to top

What are the symptoms of Batten Disease?

  • Severe seizures

  • Poor eyesight which may result in blindness

  • Changes in personality and behaviour

  • Childhood Dementia

  • Speech and motor skills problems that get worse over time

  • Difficulty sleeping

  • Short life-expectancy if not treated

Back to top

How common is Batten's Disease?

Approximately 1-3 children are diagnosed with an infantile form of the disease each year, meaning there are probably between 15 and 30 affected children in the UK.

Jessica has the late infantile form of the disease - the same as Nicole's.

Back to top

What causes Batten disease?

Batten disease is an inherited genetic disorder that appears to affect the function of tiny bodies within cells called lysosomes.

Lysosomes are the “recycle bin” of the cell.

They regularly break down waste, proteins, and naturally occurring fatty compounds called lipids into smaller components that can be discarded out of the cell or recycled.

Back to top

Is there a cure for Batten Disease?

There is no known cure for Batten Disease, however there are a number of treatments that can delay the effects of the rare condition.

Jessica and Nicole Rich have CLN2 Batten Disease. In 2019 an enzyme replacement therapy called Brineura was approved for use on the NHS. The therapy is proven to slow, or in some cases halt the progression of Batten Disease symptoms.

This is the treatment that the Rich sisters are currently receiving at Great Ormond Street Hospital.

Thanks in part to early diagnosis and treatment, Jessica Rich has not yet began to display any symptoms.

Back to top