Campaigning for her Lucy; In association with the NHS The mum of a toddler who died of a fatal genetic condition gave her support to a national campaign, Rare Disease Day. Health Reporter HELEN RAE explains.

Byline: HELEN RAE

LITTLE Lucy Mathieson died aged four after being diagnosed with Niemann-Pick disease type C when she was just five weeks old.

The disease affects around 500 people worldwide.

Her loving mum, Toni, of Fatfield, Washington, paid tribute to her beautiful and sunny four-year-old by supporting the national campaign by attending a parliamentary reception in London on Friday.

Toni, 39, who is the Executive Director of Niemann Pick Disease UK, said: "Although each disease will affect only a few families there are between 6,000 to 8,000 rare diseases, so the total number is very significant.

"Many of the issues I face are common to others with rare diseases and together we are campaigning to develop a plan to improve the services and support we receive."

The event at Westminster was attended by more than 150 patients, who met with MPs.

The aim of the meeting was to raise the needs of patients with rare diseases and, in particular, campaign for the development of a national plan for the estimated 3.5 million people in the UK affected by a rare condition.

Many rare diseases are life-threatening and more than 75% of them affect children.

They can also be complex, requiring care and information from a whole range of specialist health professionals.

Lucy was born with an enlarged liver, jaundice and a spleen 11 times larger than normal.

Toni and her husband, Stewart, 38, were aware their daughter was not developing as a normal child would and she soon began to lose skills, including the ability to crawl. The youngster died two years ago.

Toni said: "We are happy with the time we spent with Lucy. Although we wish she was still here, she was in lot of pain. For someone so small, she touched the hearts of so many people.

"All the time since she finally left us, there has been the most terrible pain and sense of emptiness - just simply knowing we will never see her again is so hard to contemplate."

The event in the House of Commons was organised by Rare Disease UK, which brings together groups and charities to develop a national plan for researching and providing care for people with rare diseases.

"All the time since she finally left us, there has been the most terrible pain and sense of emptiness - just simply knowing we will never see her again is so hard to contemplate

CAPTION(S):

SPECIAL TIMES TOGETHER - Lucy Mathieson, pictured, when she was aged 22 months, with her mum Toni; TOUCHED HEARTS - Lucy Mathieson, aged two