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A Newcastle family said their ‘dream has come true’ after announcing that treatment that would prolong the life of their two daughters would soon be available at their local hospital.

Nicole, 9, and Jessica, 5, both have Batten disease, a rare condition that causes seizures, loss of speech, reduced mobility and childhood dementia.

For years, Gail and Matthew Rich had to travel thousands of miles each month to access treatment for their two young daughters.

Every two weeks, Nicole and Jessica make the trip from Throckley where they live at 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 enzyme replacement therapy every two weeks at the RVI in Newcastle.

It has been a long and difficult road so far.

The family has campaigned tirelessly to ensure their children can access potentially life-saving treatment.

In their fight to save their children, Gail and Matthew have been forced to travel hundreds of kilometers to treat their two daughters in different countries. Gail drove to Great Ormond Street in London with Nicole, while dad Matthew took younger sister Jessica in Hamburg, Germany.

At the time, a pharmaceutical company was covering the costs of life-prolonging infusions because the therapy was not 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 has taken their two 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 overview of what it’s like to have two daughters with a deadly disease.

In the moving interview, Gail opened up about the devastating moment her eldest daughter Nicole was diagnosed with Batten disease.

Gail also spoke about the challenges the family faced, campaigning for their daughters’ treatment to be available.

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

Gail said the future of her daughters is in the hands of drug companies who may decide to withdraw funding for 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 Nicole was not speaking at the age of two.

After several tests, doctors told the couple the devastating news that Nicole was suffering from Batten disease.

Three months later, the family suffered another stroke as their youngest child, Jessica, was also diagnosed with Batten.

Jessica rich

Jessica could have been diagnosed so early due to the illness of her older sister Nicole. Early diagnosis allowed early treatment.

Jessica became the youngest person in the world to undergo pioneering brain surgery to allow her to have the infusions that prolong life.

Thanks to early intervention, Jessica has no symptoms of Batten.

Nicole and Jessica Batten’s Journey

Latte disease

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

People diagnosed with neurodegenerative disease should not live beyond eight to twelve years.

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

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What are the symptoms of Batten disease?

  • Severe seizures

  • Poor eyesight which can lead to blindness

  • Personality and behavior changes

  • Childhood dementia

  • Speech and motor problems that get worse over time

  • Difficulty sleeping

  • Short life expectancy if untreated

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How common is Batten disease?

About 1 in 3 children are diagnosed with an infantile form of the disease each year, which means there are likely between 15 and 30 children affected in the UK.

Jessica has the late infantile form of the disease – the same as Nicole’s.

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What are the causes of Batten disease?

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

Lysosomes are the “basket” of the cell.

They regularly break down wastes, proteins, and natural fatty compounds called lipids into smaller components that can be thrown out of the cell or recycled.

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Is there a cure for Batten disease?

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

Jessica and Nicole Rich have Batten disease CLN2. In 2019, an enzyme replacement therapy called Brineura was approved for use on the NHS. Therapy has been shown to slow or, in some cases, stop the progression of symptoms of Batten disease.

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

Thanks in part to early diagnosis and treatment, Jessica Rich has yet to start showing symptoms.

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