Illness, and courage, out of the ordinary
Woman wins award for battling rare, debilitating disease
Each morning that Ashleigh Paterson, 28, opens her eyes she is filled with amazement. Simply because she had no expectation to see a new day.
Her day is typically spent stimulating her heart in case it stops. Or feeding through a tube, only to have the food rejected.
Despite her circumstances she is a beacon of hope for many children suffering rare diseases like hers. Paterson, from Hillcrest in KwaZulu-Natal, was awarded the Rare Diamond Warrior award last night at the second biennial Rare Diseases Conference.
She suffers from a multitude of rare diseases, including Ehlers Danlos syndrome (EDS), a genetic connective-tissue disorder in which her joints dislocate when she makes simple movements like washing her hair.
Her autonomic dysfunction means the nerves sending messages between the brain and the organs are damaged.
She also suffers from mast-cell activation, which causes a range of chronic gastrointestinal attacks. She has severe gastroparaesis, which causes her to purge her food, and Cipo (chronic intestinal pseudo-obstruction), a rare genetic disease that causes bowel obstruction.
Paterson was born with bilateral hip dysplasia and chiari malformation, a condition in which the brain tissue extends into the spinal cord. Doctors said if she survived birth, she would never walk.
But she did survive and with the help of her husband Michael and her service dog Hugo she is an advocate for people with rare diseases in SA.
"With my medical team, Dr Robert Nel, dietician Kerry-Ann Dolloway and Dr Mariusz Tarkowski, we are learning and managing my symptoms better," she said.
Her motto is: "just because it's rare doesn't mean it's not there".
Before her diagnosis, Paterson was initially sent to a psychiatric unit. Doctors believed she was anorexic and bulimic. She had a feeding tube inserted. "I believed them; I thought it was in my head."
Paterson now makes teddy bears with feeding tubes for children with rare disorders. "I make the bears look like the patient with all the same medical devices. I don't want them to feel alone."
Paterson has also finished writing a book, which she hopes to publish, about EDS.
She shared the stage with two other Diamond Warrior nominees, Megan Hunter, 30, and Ruhan Adendorff, 26.
Hunter suffers from myasthenia gravis, a chronic autoimmune neuromuscular disease.
"I went from being healthy to being unable to shower myself, climb stairs, swallow my food or even smile."
She has undergone numerous treatments, including chemotherapy and plasmapheresis.
The results of the plasma treatment used to last months, but Hunter's body has started to reject the treatment. "My veins have disappeared from all the needles, so now I have a permanent port and two perma catheters so doctors don't have to poke around any more. I call them my antennas. I've learned to joke about it."
Adendorff suffers from Sotos syndrome, or cerebral gigantism. Sufferers often have learning disabilities or delayed development of their mental and movement abilities.
"Everything I have and everything I do now, I was told I would never be able to do. I was told I would never go to a 'normal' school or have the fine motor skills to change gears on a car. Now I run my own farm."
Paterson dedicated her award to her friend Dina Simpson, who recently lost her battle with two rare diseases, median arcuate ligament syndrome and spinal muscular atrophy.
Rare Diseases SA's Nicola du Plooy said the award honoured an "individual who lives with a rare disease, but despite the tough circumstances is living a life beyond disease".
"They are a true inspiration to not only healthy individuals, but they have inspired the rare disease community to keep pushing through despite the odds."