6:29PM, Tue Jul 10, 2012

Girl Aged Three With Rare Genetic Disorder Makes It To USA Research Trials

By Ruth Holliday Location: San Diego, California

Nancy Jameson with her family in East Boldon

The family of a three-year-old girl with a rare genetic disorder is thanking North East supporters who helped pay for her to take part in clinical trials in the USA.

Nancy Jameson from East Boldon is one of only around 200 people worldwide to have the chromosome abnormality 11Q Terminal Deletion Disorder, also known as Jacobsen Syndrome.

The business community along with Nancy's friends and family raised the money to send her to San Diego, California.

There she underwent skin biopsy trials using a new technology which converts stem cells into neurons.

It could potentially help re-programme brain cells if funding becomes available.

Nancy's symptoms include mental and physical delays, blood disorders, facial dysmorphia, vision impairment, hearing problems and behavioural issues.

She has no speech, doesn’t walk, her future development is limited and her life expectancy is much reduced.

Together with her parents Martin and Kerres and five-year-old brother Ned, Nancy met scientists from around the world who give their own time to research the disorder, which is caused by a missing part of the 11Q chromosome.

Martin said: "We learned about emerging research on heart abnormalities, immune system deficiency and blood platelet malfunction - Paris Trousseau Syndrome - all of which could prove lifesaving.

“It was also enormously useful for us to meet over 40 other families and their children who also suffer from the disorder and to learn how they cope and manage with all the challenges which it brings.”

The Jamesons would particularly like to thank Greggs, Fastflow Pipeline Services, Distinctive Publishing, SCS, Sabic, Hutton Chemicals, Persuasion PR, John Gillender Photography as well as family and friends.