Hello
All,
I had another great day!!!! I was able for the first time in three years to have Calvin drop me off somewhere and be able to drive away. He drove me to the cottage on the beach where my daughter and son-in-law were staying, visited for a while and then drove to town to run some errands. I had my portable oxygen, which lasts for about 4 hours. The cottage had a huge bay window looking out into the Straight of Juan de Fuca. We sat in front of a roaring fireplace and visited as we saw Victoria, Canada across the bay and watched the ships as they passed.
I realized, however, that although I did not have that horrible fog I had been experiencing any longer, I still have issues with exercise intolerance. Just talking for a while and then having a snack proved to be too much, I went into arrhythmia and become weak, but I avoided paralysis. I had to be very careful after that, however.
Calvin told me later, that other than leaving me in the hospital a few times, it was the first time in three years he felt he could leave me like that. He said he felt sad driving away, but he knew I was in good hands and it was good for him and him to do that.
My visitors must leave today, I will miss them very much, but I will get back to my "work" of teaching the world about Periodic Paralysis.
Today, I want to share an article I wrote a few months ago.
Pharmaceuticals
Are Not the Answer For Some Rare Diseases
Some rare diseases cannot use pharmaceuticals for
treatment. There are other options, but there is no help to obtain them.
I have a disease
called Periodic Paralysis. It is a very rare, debilitating, hereditary and
difficult to diagnose disease. I was 62 when I was finally diagnosed, 6 years
ago. It is a mineral metabolic disorder called an ion channelopathy. It is
often misdiagnosed and mistreated, thus causing more damage or possible death
to the person with it. There are several forms of it and the type I have is the
most rare and the most serious type.
On a
cellular level, triggered by things such as sleep, exercise, sugar, salt, most
medications, stress, cold, heat, anesthesia, adrenaline, IVs, etc., potassium
wrongly enters the muscles either temporarily weakening or paralyzing the
individual. Episodes can be full-body lasting hours or days during which severe
life-threatening symptoms may occur. Due to these complications, it is
extremely important to avoid the episodes. Permanent muscle weakness may occur
over time. If it affects the breathing muscles it can become terminal.
There are
no known cures, but there are treatments and drugs for some forms, which can be
and are successful for some individuals.
My husband
and I are the co-creators and managers of an independent organization, the Periodic
Paralysis Network (PPN), which is patient-safety-related due to the serious
nature and potential life-threatening symptoms and side effects of this
condition if it is not treated correctly. We have a website, a discussion board
and support group on Facebook to help others with support and the natural
methods (pH balanced diet, supplements, oxygen) we have discovered. We
also provide methods and ideas on how to find doctors, get a diagnosis, get the
proper help in the ER, how to discover their triggers, and much more.
Many patients
have difficulty getting diagnosed and treatment in the US and the same problem
exists around the world. We have people contact us nearly every day from all
over the world, Iran, Ukraine, Turkey, Denmark, Wales, Netherlands, Canada,
Finland, Australia, Mexico, to name a few, who are seeking help for themselves,
their children and entire families and are unable to find it anywhere.
For some,
medication can help but they cannot get medication. Some need a diagnosis but
cannot find doctors who know enough to diagnose it. Many, many people are
suffering with this disease and getting no help. The quality of their lives is
being destroyed and some are even dying, needlessly.
With this
information in mind, a few months ago, in my position as manager of the PPN, I
received an email from an organization, which is described as a driving force
behind programs that provide services for patients with rare diseases. The
email was seeking input about improving the methods and time frame for
processing pharmaceuticals for treating rare diseases.
Though I am not a
doctor, researcher or physicist and had some difficulty understanding some of
what was written; I understood enough to form some comments and then added a
few questions regarding these issues. I quickly wrote a response hoping for
some information about the possibility of services for “patients” with Periodic
Paralysis, a rare disease. I wrote the following letter.
”I understand
that this process has been designed to expedite the discovery, research and use
of new medications or pharmaceuticals in rare, very rare and extremely rare
diseases. This is definitely something I can agree with. There is a need to
expedite the process as many of us are dying. I happen to be one of those people
due to a lack of treatment. I agree also with the key-considerations of the
benefits and risks of a faster time frame because there must be safeguards in
place.
That being said,
the condition I have is an, as yet, undiscovered variant of Andersen-Tawil
Syndrome (ATS), which is probably unique to my family and me. Our DNA is being
studied at Baylor, therefore, it an extremely rare form of Periodic Paralysis,
which is an inherited ion channelopathy. Part of the problem with expediting
the making of medications to treat a condition, is that it is useless for me
and others with ATS because most of the patients with ATS, are not able to take
any medications or pharmaceuticals because they are actually triggers for our
severe symptoms of paralytic episodes, which include partial to total body
paralysis, difficulty breathing, low oxygen levels, heart arrhythmia including
dangerous/sometimes fatal long QT interval heart beats and torsades de pointe,
fluctuating heart rate, fluctuating blood pressure, cessation of breathing,
choking, possible cardiac and/or respiratory arrest.
What we need is a
way for timely and better diagnosing so treatment can begin early thus avoiding
an outcome like mine; getting a diagnosis at the age of 62 for a disease I had
my entire life. I was misdiagnosed over and over and treated with
pharmaceuticals, which almost killed me and have left me totally disabled and
terminal with no treatment as I progressively decline.
At this time,
Periodic Paralysis is diagnosed by a process of elimination, which takes years,
in my case a lifetime, and either clinically; based on symptoms and
characteristics, which can be subtle or absent or genetically; genetic testing
which can take years and is only done in a few places in the world. The problem
with these options is, first, most doctors and even the specialists do not
understand it well enough to diagnose clinically, and second, the genetic
testing will only reveal about 50% to 60 % of the overall types of PP/ATS. The
remaining 40% to 50% of forms are, as yet, unknown. An individual with an
unknown variant has symptoms indistinguishable from those with the known
mutations.
We need something
better than this. Many people are dying from the improper medications due to
misdiagnosis and by provoking their symptoms in an attempt to get a clinical
diagnosis.
Genetic research
has been in place for over 25 years. Blood samples from all over the world are
studied and then in a year, 2 years, 4 years, or one family has been waiting 9
years, an individual will get his letter stating he has no known form of PP.
This wrongly sets up the patients to believe that they do not have PP, though
as stated above, 40 to 50 % of them have a variant, which has not yet been
discovered. In the meantime there is no help and no treatment until or unless a
mutation is discovered. To date I know of no known treatment from these studies
and no faster or better method for diagnosis.
This has to
stop!!! There must be a better way, a set of better guidelines, better
education of medical professionals to be able to diagnose this cruel disease in
a more timely manner, and perhaps rather than funding for the discovery of only
50% of genetic codes the money can better be used to research for proper
diagnosis, treatment and management.
There are doctors
who are associated with an organization specifically for researching and
treating diseases affecting muscles. Although Periodic Paralysis is not a
muscle disease but rather a 4th class mineral metabolic disorder, it is
accepted as one of their diseases. These doctors are supposed to know about and
treat PP. However, but most of them, (I have been to 4 of them), did not
diagnose it in me and in fact set my diagnosing back years, thus contributing
to my present condition, totally disabled and terminal. Again, I suggest if
these specialists and this organization are receiving funds for diagnosing,
treating and research of PP, then that money should be going elsewhere for
those of us with PP or for proper education of those doctors to recognize PP/ATS
based on present day criteria.
There are other
types of PP in which some drugs are used with good results, for a few, but not without short term and serious long term side effects, but
for the more rare forms, we are out of luck.
My husband and I
have written a book about Periodic Paralysis and discuss these issues in it. Living
with Periodic Paralysis: The Mystery Unraveled was published last month.
This was in part due to a program coordinator for the organization treating
muscle diseases telling me that I need to teach their doctors about Periodic
Paralysis! We also have a website, the Periodic Paralysis
Network and forum for individuals who have PP and most of our members
are unable to get a diagnosis, or treatment. They are living in limbo with no
help from the medical field. We have created a plan that helps us naturally
with diet, avoiding triggers and by monitoring our vitals, especially
monitoring our potassium levels.
There is a
device, a potassium reader, which we use to help us to know how to treat our
symptoms based on the level of potassium in our blood. Unfortunately, this
device costs $350.00 and is not a medical device so insurance will not pay for
it. Most families do not have that kind of money, thus making monitoring of
symptoms very difficult.
Rather than
medications, we use those devices to help us relieve our symptoms and stay
alive by avoiding paralytic episodes. We could use funding for those devices
and working with the FDA and the company that makes the devices can help us to have
them deemed as medical devices so insurance will pay for them. We are not
yet incorporated but hope to be soon, with funding from the sale of our book.
We hope to be able to raise money to purchase potassium meters for those who
need them.
Pharmaceuticals
are not the answer for some rare diseases. The above issues are the type of
help we need. Do any of our concerns or issues meet your requirements to
receive assistance under your “commitment to fulfill unmet need for patients”
with rare diseases? I would love to work with you if that is the case.”
I continue
to wait for a reply, although today, I received another e-mail from them asking
me to write a letter or call my representative in Congress in order to pressure
them to pass the now completed Bill.
All the while I
am hooked up to an oxygen tank, confined to my bed, recliner or power
wheelchair, with my computer in my lap as I continue to work to improve the
lives of individuals with all forms of Periodic Paralysis. I am creating a set
of better guidelines for diagnosing PP, writing my next book for better
education of individuals of with PP and medical professionals, attempting to
raise awareness of PP in the world, marketing my book to raise money for
potassium readers as I am in and out of paralysis and muscle weakness. You see;
pharmaceuticals are not the answer for some rare diseases. Who will help us?
Who will take my place when I am gone?
Update 12/19/2016:
We now have written and published four books related to Periodic Paralysis.
