Pharmaceuticals Are Not the Answer For Some Rare Diseases

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?

Until later...

Update 12/19/2016:
We now have written and published four books related to Periodic Paralysis.