Tenille Edwards was diagnosed with Susac syndrome about a year ago. Photo / Paul Taylor
Tenille Edwards was diagnosed with Susac syndrome about a year ago. Photo / Paul Taylor
A Hastings woman is seeking more awareness of her rare auto-immune condition which has been described as "like being on a rollercoaster ride without the safety harness".
Tenille Edwards led an active life before being diagnosed with Susac syndrome - yet her life now is anything but ordinary.
The 37-year-old and her support partner Joseph Brown want to bring awareness to the rare and often unknown condition in the hope that they may find others in the country going through the same thing.
Susac syndrome is a rare autoimmune disease that affects the blood vessels of the brain, inner ear and eye causing symptoms such as headaches, cognitive impairment, visual disturbance, tinnitus, deafness and dizziness.
Dr Todd Hardy, an associate professor at the University of Sydney, who is researching the syndrome, said it was so rare it is difficult to know exactly how many people have this condition.
As exact prevalence is not known, the Ministry of Health and Rare Disorders NZ do not have data on how many people there are in the country with this disorder.
Research from central Europe suggests 1 in 500,000 people have it, he said, but he believed it is a little bit more common, and often goes unrecognised or misdiagnosed.
He is currently trying to establish how many cases there are in Australia, so far identifying 33. In New Zealand, he has been contacted about three others.
The effect it has had on Edwards and how it has changed her life is something she struggles to talk about, only able to say "I hate it".
"I don't want anyone else to go through the same," she said.
Brown said before her diagnosis about a year ago Edwards worked as a cleaner and the two of them were very active people, constantly out of the house going for walks and bike rides.
Now, he has taken on the role of her carer and Edwards struggles with memory issues, balance, speech, cognitive processing and sleeping.
Emotions also sometimes come out as the opposite of what she is feeling and with intensity, something Dr Hardy says is the so-called "pseudobulbar affect" of inappropriate laughing or crying which can occur as part of the cognitive effects of the condition.
Brown describes it as "like being on a rollercoaster ride without the safety harness, you've just got to hold on".
"We are just trying to find some sort of support, someone we can talk to who knows what we are going through."
They've looked through Facebook support groups but have struggled to find anyone in New Zealand who has experience with the syndrome.
As the person caring for her, Brown said he has found it "lonely" and "stressful".
Constant headaches and dizziness, then a loss of balance led to Edward's diagnosis but she was first misdiagnosed with multiple sclerosis then stroke.
Dr Todd Hardy from the University of Sydney is researching Susac syndrome. Photo / Supplied
"It is still not well known by many people and that's because it is very rare, it's the sort of thing that many neurologists or doctors may not even see once in their career.
"Like many rare diseases it's under-researched because it is hard to attract funding for rare diseases, it's much easier to get funding for diseases which are very common and therefore affect large amounts of the population."
Hawke's Bay District Health Board chief medical and dental officer Dr Robin Whyman said while it is very rare, clinicians in Hawke's Bay have managed other cases in the past.
He said the syndrome is well known to neurologists managing Edwards' care, however, many GPs may have never had to treat it.
Edwards' neurologist is in close liaison with her GP to discuss the case and best course of management, he said.
"Because Susac is rare, there is limited knowledge about best treatment, but there are several recommendations from international experts.
"This patient has been receiving treatment in line with recommendations by international experts. Unfortunately, patients do not always recover completely, despite treatment."
Whyman said Edwards has been seen by a Needs Assessment Service Coordination (NASC) service and neurological rehabilitation occupational therapists and was referred to a Multiple Sclerosis (MS) field worker to help link her up with support groups or networks of others who are living with an autoimmune disease.
Rare Disorders NZ said there was no support group for the condition that it is aware of.
