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!!!!
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.
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.
Amen Susan Amen.. to have a clinical diagnosis and a team willing and able to offer treatment is indeed a great gift.. and people like you and Cal and many others sharing their own stories sucesses and failures.. I truly believe we are our own best hope.. Karen Carr Biehl
ReplyDeleteThanks so much Karen!!!! It has been a long and tough road we have traveled together....but it looks like we may be seeing signs of our work finally coming to fruition.....Hugs....
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