Our Diagnostic Rights

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.

http://www.diagnosticrights.org/

http://www.youtube.com/watch?v=j8gABEg-lJs

https://www.facebook.com/pages/The-Coalition-for-Diagnostic-Rights/548604995235123

Until later...

The Five Stages of Loss in Chronic Illness

Hello All,

When someone, or someone we love, discovers they have a disease or medical condition for which there is no cure, and for most part no treatments and that they will be this way for the rest of their lives and probably get worse as time passes and may even die from it; they most likely will endure a series of several stages of mental, emotional and psychological experiences. The realities of such a situation create feelings, fears and questions, which are quite common and expected under such circumstances.

The questions like “Why me?” or “What did I do to deserve this?” easily come to mind. “There must be a mistake,”  “There has to be a cure,”  “How bad will I get?” and “How can I get through this?”, will surely follow.

According to Wikipedia, the Kübler-Ross mode, also known as “the five stages of grief, is the series of emotional stages that someone experiences when faced with impending death or other extreme, awful fate. The five stages are denial, anger, bargaining, depression and acceptance... ...these stages are not meant to be a complete list of all possible emotions that could be felt, and, they can occur in any order. Her hypothesis holds that not everyone who experiences a life-threatening or life-altering event feels all five of the responses, as reactions to personal losses of any kind are as unique as the person experiencing them.”

Kübler-Ross, who worked with dying individuals, originally developed her five-stage model based on observations of those suffering from illnesses, which were terminal. Over time she believed this theory also applied to those suffering any form of devastating personal loss or upon learning the diagnosis of a chronic illness or disease...."

http://en.wikipedia.org/wiki/K%C3%BCbler-Ross_model

After Kübler-Ross wrote her book, “On Death and Dying,” others have written on this subject and present a variation of the original five stages. Chronic illnesses present with different symptoms and characteristics but they are the same in that each individual experiences denial, anger, fear, hope and acceptance. Many other feelings may be a part of the cycle of stages. There is no special order that someone goes through these when someone is diagnosed with a chronic illness and it is not uncommon to go back and forth through them. This can happen as the health conditions worsen or improve.

It is suggested that no matter what stage a person may be in, they need to go with it. That is probably where one needs to be at that given moment. It is wise not to try to push it or try to hurry into the next stage. Let it naturally happen.

http://fibrofighter.tripod.com/17stages.htm

For those of us with various forms of Periodic Paralysis, the above information applies. We do first face denial. Periodic Paralysis is a very cruel and progressive illness for many of us. We experience the paralysis and muscle weakness and feel the pain associated with it. We read and study about it. We recognize what is happening. But, we do not want to believe it. We deny it.

 
As we lose our muscle strength, the ability to walk or to eat what we want, to do what we want or need to, lose our jobs and careers, the ability to drive, our independence and possibly even family members who do not understand, we face great loss. We become angry and sad.

While in paralysis we may not be able to move, see or speak. We have arrhythmia, fluctuating heart rate, fluctuating blood pressure, choking, and problems with swallowing. We can actually die during an episode from the arrhythmia, or respiratory or cardiac arrest. We became very fearful.

When we learn there are medications that may help us; diets that can reduce the amount and severity of our paralytic attacks and that avoiding known triggers will improve our daily life; we become hopeful.

 
Learning as much information we can about Periodic Paralysis; changing our diet, avoiding the triggers, making natural lifestyle changes; creating adaptations in how we do things; joining support groups and seeking out therapy or counseling and learning relaxation techniques can bring us to an acceptance of being in control.

As things change and our muscle weakness progresses, we suddenly develop more paralytic attacks, we must deal with an infection or the side effects of the medication we are given, more breathing issues develop or we become unable to do yet another simple daily activity, a new symptom begins or another grandchild ignores us; it is easy to slip back into a sense of loss, fear, depression or anger.

 
When this happens, communicating with friends in a support group who understand or a therapist can be the best way to slip back into hope and acceptance.

We must never give up our struggle and we must continue to have hope that there may be a new medication or a new form of treatment that may be developed for treating the dreadful effects of Periodic Paralysis. We must continue the fight for our self, our children, our grandchildren and our great-grandchildren. We must continue to bring awareness of Periodic Paralysis to our families and friends. We need to teach the medical professionals in our lives about it for better and faster recognition, diagnosis and treatment.

However, no matter which stage we may be at this moment; denial, anger, fear, sadness, depression, hope or acceptance; it is best to not try to push it or try to hurry into the next stage or feel guilty about it. Let it naturally happen. It is acceptable to feel sadness, fear or anger at each new step or loss. We each have a right to our beliefs, feelings and thoughts at any given moment.

We at the Periodic Paralysis Network are here for each and every one of you no  matter which stage you may be experiencing.

Until later…

Clinical Diagnosis vs Genetic Diagnosis

Hello All,

I have been very ill again with the effects of metabolic acidosis and low potassium and have been unable to write very much. I apologize for the delay in adding a new blog.

This morning one of our members had a concern and question about the need for a genetic diagnosis. This person has a clinical diagnosis, based on symptoms and characteristics, but was denied access to a genetic testing due to the fact that having a genetic diagnosis would “not change the treatment.” Many comments and replies were added.

After reading all of the comments and then writing my own, which follows, I had a revelation! "What a switch!!!" It is usually the other way around. One must have a clear genetic mutation to be diagnosed, believed and receive treatment. So, this may be the beginning of the medical professionals, insurance companies and more knowing that a clinical diagnosis can be and should be made first and be accepted.

This is what I have been hoping for, working towards and wrote about in my book and on our boards and in this blog!!!!

The following is what I wrote.

”To weigh in here, I was diagnosed clinically with Andersen-Tawil Syndrome (ATS). My genetic testing turned out to be negative. This is because I obviously have a variant that has yet to be found. Forty percent or more of us will not get a genetic diagnosis because our type or form of PP has not been discovered yet. And, if you already have a clinical diagnosis, based on symptoms and characteristics, it can be overturned or attempted to be overturned by uninformed or poorly informed doctors, even Periodic Paralysis specialists. This has happened to members of our group, who later did get a genetic diagnosis as did other family members. Sometimes it is best to leave "well-enough" alone.

That being said, my DNA is now being studied at Baylor through whole genome testing (I just happened to be in the right place at the right time with the right criteria to be accepted into the study.) looking for a new variant of Andersen-Tawil Syndrome. However, it is too late for me really to know if I have a genetic mutation or not. The doctors and specialists tell me there is nothing they can do for me other than what I am doing, but it may be helpful to my children and grandchildren and great-grandchildren to know the exact type, for better and more proper treatment, sooner.

In my daughter's case, she now has a diagnosis and her doctor told her, that there was nothing she can do for her other than what she is already doing. She told her that it is obvious that what she is doing is correct, because there has been great improvement. She wanted to know what she was doing and how she knew what to do. Then my daughter handed her a copy of our book and said, “I have learned everything from my mom!!!”

As far as I can tell and believe, a genetic diagnosis is just "icing on the cake" and can be pursued after a clinical diagnosis has been established. Testing in Germany is free except for the cost of getting the blood there (which can be quite costly), and there is no guarantee of getting a genetic diagnosis. That must be kept in mind if that decision is made. Most testing from a doctor's office is for only a few types so even if the doctor orders it, it may not show up if it is an unusual or unknown variant or if it is ATS and Hypo is what the test is for or hyper and they test for ATS.

Some things to consider, if blood is sent to Germany, you do not need a doctor to order it so that leaves your doctors out of the loop which can be helpful, in case it comes back negative. Also one must be aware of the time involved in testing. Some people wait an average of a year, others a few years. It is not a quick answer or a quick-fix situation.

I waited over a year for my results from Germany and have been waiting for 14 months for the results of my whole genome testing at Baylor.

Do I worry about the results..."no". No matter what the results of the test turns out to be, I must continue to treat my symptoms as I have, naturally, the best I can with the knowledge that I can take no medications and have no surgeries. Because, in my case, great and irreversible damage was done by all the wrong diagnoses and all the medications I was given.

For most of you, you know you have a form of PP. There is no doubt. Discovering your triggers and following a balanced diet that works for you and other natural methods can make a big difference, regardless of the type of PP you have. We are each different and have to treat our symptoms differently based on what we know and what our symptoms are. We learn quickly what makes us worse or better.

The medications of diamox, acetazolamide, diuretics and more only work for a small percentage of us and for some of those people, damage is being done, while they are unaware such as kidney stones, metabolic acidosis, hypokalemia and growth issues.

Getting a clinical diagnosis, based on our symptoms, is the most important thing/step we can take/get. Once it is on paper, we are at least believed for emergency care issues, hospitalizations, possible medications, school issues for children, insurance, validation, vindication, disability and much more.

It is an individual decision to do genetic testing once one has a clinical diagnosis and best made knowing all of the facts.

Until later…