Seven-month-old in Wrentham diagnosed with Krabbe disease

Three weeks ago, Amanda Peck, 29, and Ben Goffin, 36, from Wrentham in east Suffolk, were told their daughter Penelope has Krabbe Disease, a rare genetic disorder of the nervous system. 

With odds of just one in 100,000 of getting the disease, she is one of only nine children in the UK with the genetic disorder. 

There is no specific treatment for Krabbe Disease available on the NHS in the UK.

Penelope's brother, Freddie, is two and is also undergoing testing for the condition.

READ MORE: Cycling trip ends in A143 tragedy for Brockdish best friends

Penelope with her family (Image: Amanda Peck) READ MORE: Stray puppies rescued by Animal Warden Service in Beccles

Her parents first thought she had cerebral palsy before she was diagnosed with Krabbe.  

Ms Peck said: "It's been a rough couple of months.

"I always knew something wasn't right and the symptoms were always there.

"From birth she was constantly crying."

Both parents are carriers of the gene but didn't know they were.  

Ms Peck said: "We want to raise awareness about it".

The couple's best friend Emma Flaherty started a GoFundMe to help the family financially with the numerous hospital visits and for the family to make memories with Penelope. 

The fundraiser has raised nearly £9,000 in less than a week. 

Penelope is only seven months old (Image: Amanda Peck) READ MORE :Russell Foster to be remembered at Raveningham Barn art show

Ms Peck said about the fundraiser: "We are overwhelmed and so grateful."

"People are reaching out and it's going to help so much."

She added: "I would also give a shout out to the amazing team at the James Paget Hospital and Shelley Keys."

David Johnson, Ms Flaherty's partner, is also hoping to perform a gig in Beccles next month to fundraise for the family. 

To donate, go to the GoFundMe: For Penelope And Her Family To Make Precious Memories

READ MORE: Old School Henstead pupils donate to Waveney Food Bank

Penelope with her mum, Amanda Peck (Image: Amanda Peck) READ MORE: Meadowgreen dog rescue centre preparing to go up for sale

What is Krabbe Disease?

Krabbe Disease is a lysosomal storage disorder. Lysosomes are found in every cell and have enzymes which are primarily responsible for breaking down and recycling worn out cell components. 

In Krabbe Disease the necessary enzymes are not working effectively allowing these components to build up and become stored in very specific areas of your body.

The cells most commonly affected with Krabbe Disease can be found in the nerves throughout your body, but particularly in the brain.

Those with the condition may experience or be at risk of difficulty with walking, balance and co-ordination, memory impairment, cognitive decline, swallowing difficulties, speech impairment, nerve pain, muscle spasms, and difficulties with passing urine.

On Krabbe UK, it says symptoms may include: "Feeding difficulties, irritability, stiffness of limbs, clenched fists, fever, and seizures."

It adds: "The symptoms can appear soon after birth in the ‘Infantile’ form or in older children or adults in the 'Juvenile' or 'Late Onset' form.

"Most patients have the infantile form."

"Life expectancy of children with early infantile Krabbe disease is approximately two years."

There is no specific treatment for Krabbe Disease available on the NHS in the UK.