Tonka
Well-known member
http://www.semana.com/noticias-vida-moderna/cuando-sufre-extrana-enfermedad/150587.aspx
Spanish to English translation
When you have a strange disease
Saturday 22 January 2011
Homewood Rhya must take 33 different pills every day to control pain.
The woman suffers from hereditary neuropathy with predisposition to compressive palsy (HNPP its acronym in English), an extremely rare disease in which nerves are slowly and progressively destroyed by the immune system itself.
"When people ask me, say I have multiple sclerosis because it is very similar and we all understand," says Rhya.
The HNPP is an incurable degenerative disorder thought to affect two in every 100,000 people.
A recent study conducted by the organization Rare Diseases UK (United Kingdom Rare Diseases) indicated that nearly 50% of people living with a rare disease in this country were initially misdiagnosed.
And some had to face years of unnecessary delay before he could get a proper diagnosis.
Rhya was diagnosed when she was 40 and after living in constant pain found that their symptoms had a name.
She had had all her life: numbness on one side of the face, numbness in the leg muscles did not respond. But no one could explain what she had.
The numbness was temporary, sometimes it only affects the little finger of her right hand or a shoulder, causing extreme pain.
"Almost got to convince me it was psychological," she says.
"Visits to general practitioners so often that I'm sure came to believe that she was faking."
For several years she was repeatedly referred to specialists but the results were inconclusive. Until a young neurologist detected the presence of carpal tunnel syndrome in both hands.
After several tests, including one gene were finally able to diagnose.
But her neurologist had never diagnosed anyone with this disease and their general practitioners had not even heard of it.
PMP-22 gene
Rhya first instinct was to investigate everything you can about the disease.
Found that HNPP is a genetic disorder caused by a defect in a gene called PMP-22, charged with protecting the nerves and speed of nerve impulses.
The PMP-22 is located on chromosome 17. Most people have two copies of this gene, but people with HNPP have only one copy.
This means that after repetitive motion injuries, the nerves take time to repair due to defects in the production of myelin-the coating around the axons of neurons, causing more damage to them.
Dr Gill Robinson, general practitioner Rhya, decided to attend a training course to understand more about HNPP, and the best way to treat chronic pain continuous and patient.
Now, four years later, Rhya can not stand for a long time and needs a wheelchair to travel long distances.
Should sleep in a bed that egg-shaped to reduce paralysis and continues to look for a pillow to lean more comfortably.
Also suffers from migraines, have trouble swallowing any food thickness and decided to undergo a gluten-free diet.
Also often suffers breathing problems and fatigue.
"Sometimes I get depressed. But try to stay optimistic," he says.
"Every day I can predict how I will feel. Maybe tomorrow I can not move to get up."
Today we know that their children have 50% chance of inheriting the disease but hopes that, if so, it is not apparent until later in life.
"Life with HNPP has been bittersweet," says Rhya.
"Many people there were very helpful and responsive, but for others it was difficult to accept my illness."
Spanish to English translation
When you have a strange disease
Saturday 22 January 2011
Homewood Rhya must take 33 different pills every day to control pain.
The woman suffers from hereditary neuropathy with predisposition to compressive palsy (HNPP its acronym in English), an extremely rare disease in which nerves are slowly and progressively destroyed by the immune system itself.
"When people ask me, say I have multiple sclerosis because it is very similar and we all understand," says Rhya.
The HNPP is an incurable degenerative disorder thought to affect two in every 100,000 people.
A recent study conducted by the organization Rare Diseases UK (United Kingdom Rare Diseases) indicated that nearly 50% of people living with a rare disease in this country were initially misdiagnosed.
And some had to face years of unnecessary delay before he could get a proper diagnosis.
Rhya was diagnosed when she was 40 and after living in constant pain found that their symptoms had a name.
She had had all her life: numbness on one side of the face, numbness in the leg muscles did not respond. But no one could explain what she had.
The numbness was temporary, sometimes it only affects the little finger of her right hand or a shoulder, causing extreme pain.
"Almost got to convince me it was psychological," she says.
"Visits to general practitioners so often that I'm sure came to believe that she was faking."
For several years she was repeatedly referred to specialists but the results were inconclusive. Until a young neurologist detected the presence of carpal tunnel syndrome in both hands.
After several tests, including one gene were finally able to diagnose.
But her neurologist had never diagnosed anyone with this disease and their general practitioners had not even heard of it.
PMP-22 gene
Rhya first instinct was to investigate everything you can about the disease.
Found that HNPP is a genetic disorder caused by a defect in a gene called PMP-22, charged with protecting the nerves and speed of nerve impulses.
The PMP-22 is located on chromosome 17. Most people have two copies of this gene, but people with HNPP have only one copy.
This means that after repetitive motion injuries, the nerves take time to repair due to defects in the production of myelin-the coating around the axons of neurons, causing more damage to them.
Dr Gill Robinson, general practitioner Rhya, decided to attend a training course to understand more about HNPP, and the best way to treat chronic pain continuous and patient.
Now, four years later, Rhya can not stand for a long time and needs a wheelchair to travel long distances.
Should sleep in a bed that egg-shaped to reduce paralysis and continues to look for a pillow to lean more comfortably.
Also suffers from migraines, have trouble swallowing any food thickness and decided to undergo a gluten-free diet.
Also often suffers breathing problems and fatigue.
"Sometimes I get depressed. But try to stay optimistic," he says.
"Every day I can predict how I will feel. Maybe tomorrow I can not move to get up."
Today we know that their children have 50% chance of inheriting the disease but hopes that, if so, it is not apparent until later in life.
"Life with HNPP has been bittersweet," says Rhya.
"Many people there were very helpful and responsive, but for others it was difficult to accept my illness."