Hello All,
This
morning an organization fighting for the diagnostic rights of individuals with
rare diseases was brought to my attention. I am relieved that an organization
like this exists. I have been writing about and fighting for this issue for
over three years now as it relates to those of us with Periodic Paralysis.
I, myself, was 62 years old when I finally got my diagnosis for Andersen-Tawil Syndrome after enduring its effects over a lifetime and being misdiagnosed over and over. I was even diagnosed with "conversion disorder", "pseudo-seizures", laughed at, scoffed at, lied about and at one point told I was "too old" to be diagnosed with Periodic Paralysis (PP). I was given harmful medications I did not need and which caused permanent damage and I am now permanently disabled.
For over three years I have written about the problems with the genetic vs. clinical diagnosis in Periodic Paralysis. One actual PP group believes that if there is no genetic mutation found during genetic testing, then Periodic Paralysis does not exist and those people are not welcome in the group. The truth is, about one-half of those individuals with Periodic Paralysis have a form of PP for which no mutation has been discovered yet. Those of us with PP need to be diagnosed clinically, based on our symptoms, after all else has been ruled-out.
We should not be shunned by such an organization but, welcomed with open arms and receive help and support. That is not happening. The other group made such a point of pushing the genetic testing and then turning away those without a mutation found, that doctors have followed their lead, especially the specialists. It is common in today's world, for doctors to believe that no genetic code equals no diagnosis.
The other issue of denying a diagnosis is based on out-dated information. That is if the potassium does not shift into a low or high range than PP does not exist. This is totally wrong. The potassium does not have to shift out of normal range for muscle weakness or paralysis to occur. Also, sometimes it may shift, but it happens very quickly and may not be caught during testing, minutes or hours after an episode begins.
Medical professionals need to be educated. That is partially why we wrote our book, Living With Periodic Paralysis: The Mystery Unraveled. We are hoping they will read it and better understand PP for faster recognition, diagnosis and proper treatment.
Many of you are still waiting and fighting for a diagnosis. Some of you have family members who have died waiting for a diagnosis or while attempting to get a diagnosis. Many of you are getting worse as the years pass by while you are frustrated and losing or have lost your quality of life.
In our Support and Education Group, a survey indicates that out of the 17 people (at the time of the survey...there are more now) waiting for a diagnosis, the longest wait is now 61 years followed by, 55, 49, 46, 43, 39, 38, 35, 33, 31, 29, 25, 25, 20, 18, 15, 2!! No one should have to wait a lifetime for a diagnosis and proper treatment.
This organization is fighting these issues for us. I wanted to pass this information along to you. This appears to be a great organization.
The Coalition @DiagnosticRight
The
Coalition for Diagnostic Rights brings together doctors, patients and
professionals of all sorts in the effort to eradicate the practice of denial of
care.
Until later...
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