Brave Hartlepool mum who was told she wouldn’t pass 30 defies odds to battle rare disease

editorial image
0
Have your say

A BRAVE mum has defied the odds in her battle with a disease which is so rare it only affects one in 100,000 people.

Nicola Crowther was told by doctors she probably would not live beyond 30 after battling the type 3 form of Gaucher’s Disease.

But she is now 35 and put her fighting spirit down to her family, particularly her 11-year-old daughter Kaitlyn Crowther who she described as “unbelievable.”

Despite her tender years, Kaitlyn has proudly helped to care for her mam in her darkest days.

She was even her mum’s young carer for a time from November last year when Nicola’s partner was at work.

Kaitlyn ran baths, cleaned, vacuumed, helped with cooking and got her young brother Alfie Turner, seven, ready for school.

Nicola said: “She is my little inspiration. I could not be more proud of her.”

Nicola, of Wingfield Close in Hartlepool, has the most serious form of Gaucher’s which is a genetic disease in which a fatty substance accumulates in cells and certain organs.

It affects every one of her internal organs except her heart. It also affects her bones and parts of her brain.

The condition is so rare, she has to make trips to a specialist doctor in Cambridge for treatment once every three months where she receives enzyme replacement treatment.

Incredibly, she has lived with Gaucher’s Disease for 28 years and added: “They said I wouldn’t live beyond 30 but here I am at 35.

“I have to take every day as it comes. It gets progressively worse and it has gone into my spine.

“But I have my family and they have been brilliant, said the mum-of-two who has a 46-year-old partner David Turner.

“People ask me how I keep on going but I keep on fighting for my family. I am so proud of them.”

Nicola was first diagnosed as a seven-year-old. She needed a hernia operation and could not stop bleeding afterwards. Later, X-rays showed she had no ball at the top of her hip.

She has since needed three hip replacements and needs another one in the next two years.

In a separate twist, Nicola has also been diagnosed with a form of cancer of the kidney and is receiving cryotherapy to freeze the cells.

She told how Kaitlyn had at first needed counselling to deal with her mum’s conditions. Simultaneously, Kaitlyn was also going through the switch from primary to secondary school.

But Nicola added: “She has been brilliant since she has known that the cancer has not spread. She loves dancing and she is flying with what she does at the Kimberly Gough Dance School.

“She has moved up to intermediate level in everything that she does. Everyone at the dance school loves her and I can’t thank them enough for what they have done with Kaitlyn.”

SYMPTOMS OF GAUCHER’S DISEASE.

Type 1

The most common and generally the mildest type of the disease.

Symptoms can include skeletal abnormalities, excessive fatigue, yellow spots in the eyes, nose bleeds, a great susceptibility to bruising and an enlarged liver or spleen.

Type 2

Many of the same symptoms as type 1 plus possible dementia, rigidity or seizures

Type 3

Usually begins in childhood or adolescence. It can be more chronic and slower in progression than type 2.

Symptoms can include abnomrmal movements of the eye, mental retardation or dementia, and loss of muscle co-ordination.

FOR MORE INFORMATION.

The Gaucher’s Association promotes awareness and pioneers research into the disease.

It was founded in 1991 when eight English people who were suffering from the disease got together to form the association.

It provides patients with accurate, easy-to-understand information about their disease, its symptoms and progression.

To find out more, write to The Gauchers Association Ltd, Evesham House Business Centre, 48/52 Silver Street, Dursley, Gloucestershire, GL11 4ND, contact 01453 549231, or visit the website at http://www.gaucher.org.uk