Rare diseases affect 350 million

NATASHA THYNE
Last updated 05:00 28/02/2014
gemma o'connor
MYTCHALL BRANSGROVE/ Fairfax NZ

SPOT BY THE SEA: Gemma O'Connor at her thinking spot near Caroline Bay. She is one of 350 million people globally diagnosed with a rare disease.

gemma o'connor
X-RAYS: The top image shows what a normal spine should look like. Before Gemma O'Connor was treated in 2010 her spinal chord was inflamed and swollen.

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Globally there are 350 million people diagnosed with rare diseases.

Timaru woman Gemma O'Connor, 25, is one of about 40 people in New Zealand diagnosed with transverse myelitis.

This particular rare disease is a neurological disorder, caused by inflammation of the spinal cord damaging the nerves and often resulting in paralysis. There is currently no cure, and available treatments only manage and alleviate symptoms.

Ms O'Connor suffers from relapses but said she is one of the lucky ones, not having to be in a wheelchair.

In 2010, Ms O'Connor started to show symptoms - hypersensitive skin, tingling, numbness, loss of sensation and severe neck pain causing vomiting.

She was admitted to Timaru Hospital when she lost the use of her left arm. Later she was taken to Christchurch Hospital and after an MRI and lumbar puncture was diagnosed with longitudinally extensive transverse myelitis.

Usually the disease affects three segments of the spine but in Ms O'Connor's case it stretched from her lower cervical vertebra to her T8 thoracic vertebra, half way down her back.

Ms O'Connor said she felt a mix of emotions, from upset to scared, when she found out the diagnosis.

Her hospitalisation also meant leaving behind her two young children, including one she was breastfeeding. As part of her treatment she required five days of high dose IV methylprednisone and a "cocktail of pain medication".

"By the end of treatment I began to slowly regain the use of my arm and began physical therapy to regain movement and co-ordination."

Her prognosis is uncertain and she has since had relapses but nothing as bad as the first time.

She said her mum, friends and children have supported her through her ordeal. As a way to find clarity and think, she often goes to a special spot near the old lighthouse above Caroline Bay.

New Zealand rare disease day is today, and Ms O'Connor hopes this will raise awareness of the disease and help people in similar situations.

There are about 7000 rare diseases and disorders, with more being discovered each day.

To find out more about rare disease day go to http://www.rarediseaseday.org.nz or find the NZ organisation for rare disorders at www.nzord.org.nz.

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- The Timaru Herald

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