PERIODIC PARALYSIS NETWORK
Hope - Support - Education - Advocacy
Hello, my name is Susan Q. Knittle-Hunter. I am 71 years old and was diagnosed with an extremely rare, hereditary, debilitating, genetic disorder called Periodic Paralysis on February 7, 2011 at the age of 62. The form I have is a variant of Andersen-Tawil Syndrome (ATS). I was misdiagnosed for over 50 years. How could such a thing happen in today's world with all of the modern medicine and technology? The following is my story, information about this cruel disease and how and why I control the symptoms.
I have had episodes of partial and total full-body paralysis for much of my life. Due to a series of misdiagnoses and mistreatment with improper medications, I have become totally and permanently disabled with weak muscles throughout my body including those involved with my vision, digestion, breathing and my heart. I must be on oxygen constantly and cannot exert myself in any way. I have had a heart loop monitor inserted in my chest to monitor the tachycardia and arrhythmia, which include life-threatening long QT interval heartbeats. I sit in a recliner for most of my day and can walk (with a walker) only from one room to another or stay on my feet only short periods of time to do simple tasks like brushing my teeth. I must use a motorized wheelchair if I leave home or need to go any distance. If I did not have the help of my husband, I would have to live in an assisted living program.
Through the past years of my physical decline, I have had to give up my career as a special education teacher, my hobbies to include hiking, walking, swimming, exercising, fishing, camping, traveling, shopping, cooking and baking. I had to sell, and move away from, a beautiful home in the mountains of Utah. I can no longer drive. I have lost many friends, because I could not keep up with them or entertain any longer. I have lost contact with family members who did not understand or did not want to watch my decline or who thought I was a hypochondriac. I have lost the connection I once had with my grandchildren because I can no longer keep up with them or continue a meaningful relationship with them. The relationship with my husband has changed from husband and wife to caregiver and patient. Most of the doctors I saw before my diagnosis treated me poorly and as if I were mentally ill.
I spent several years working diligently to get a diagnosis and treatment for the ailment that cruelly stole the quality of my life. The most difficult part of this, for me, is knowing that I may not have became this seriously ill if just one of the over 30 doctors I had seen over a six year period in Oregon and the many years before, would have taken me seriously.
One Sunday morning after recovering from yet another full body paralytic episode, I searched once again on my computer for "periods of paralysis". I was shocked and dismayed to read about a disease, which actually had all of the components many of my family members and I had been experiencing for so many years. Once I realized what I actually had, the struggle became even more difficult trying to convince my doctors. By this point, everything else had been ruled out, but no one wanted to diagnose me. I heard I was "too old" to have it. I was ignored. I was dismissed and told to go have a "good time" as long as I was in Portland, after driving 250 miles for the results of a muscle biopsy (The test did show myopathy (muscle disease), change in shape and size of muscle fiber but I was told it was normal). I was given lidocaine after telling my primary care physician (PCP) I could not have it during a mole biopsy. It caused an episode of paralysis but I was treated as if I were a naughty child behaving badly. I was left alone in the room in paralysis. I was in metabolic acidosis, twice in front of my PCP and sent home rather than to the hospital. My heart was in tachycardia and I could not breathe. After discovering that I was having long QT interval heartbeats on a Holter monitor (a marker for ATS), this was dismissed by my PCP, even after being told it meant I could go into cardiac arrest at any given moment. After two months, I had to request a referral to an electrocardiologist. The referral took two more weeks to get from my PCP and the insurance company.
During this time, I continued to decline as I had more and more severe total paralytic episodes. I had tachycardia and palpitations of my heart and I was having difficulty breathing. Sometimes my breathing would actually stop for a few seconds at a time. It felt like an elephant sitting on my chest. It was very frightening. Soon the difficulty of taking breaths in and out began to happen when I was not in paralysis. I found it more and more difficult to breathe. Every time I stood up, ate a meal or exerted myself in anyway, the breathing got worse and my heart would speed up until it was beating 130 to 140 beats per minute, even while I was eating.
My husband became so concerned with the lack of caring being displayed by my PCP and our insurance company, that he walked into a medical supply company and told them what was happening and asked if they could help me to get oxygen because I could not breath. After speaking with him for a few minutes, the manager told my husband that she would give all of the information he had carried in with him, to one of the technicians and that they would see what they could do for us. She told my husband that they find it is best to get all the information together and then, "Hit them (doctors) between the eyes with the facts".
They hooked me up with a recording oximeter. It was discovered that my oxygen saturation levels were dropping dangerously low during my episodes of paralysis and it was apparent that they were low every time I exerted myself in any way. The technician took the information to my PCP and she had no choice but to sign a referral for me to get oxygen. At that point, we began to look for another PCP and decided to change insurance companies to avoid the need for referrals.
A month or two before this point, I was in despair over trying to find a doctor who knew about Periodic Paralysis. Then on the evening news, I saw their weekly feature of offering direct calls to doctors with any medical question. I quickly picked up the phone. After a wait of only a few minutes, I was speaking with one of the physicians. I asked her if she had heard of PP or knew of any doctors who might know about it. As luck would have it, she herself had a patient with it. She gave me the name of the neurologist the patient sees.
I went to my PCP with this information and talked her into giving me yet another referral. The neurologist eventually diagnosed me with "probable" Periodic Paralysis. He wrote a letter telling my PCP that I needed to see an electrocardiologist right away. It was several months before I got the referral. He described my heart condition, by that point, as serious with no treatment, but insisted I needed to have a heart monitor implanted. He also set up a renal specialist to help diagnose what he believed was Andersen-Tawil Syndrome based on all the information being presented to him by my PCP, the neurologist and me. I did get the diagnosis while in the hospital for the implant after going into paralysis and being observed by the doctors. The paralytic episode was caused by a mistake. They gave me a saline drip and lidocaine during the procedure. My diagnosis was actually based on an accident.
After receiving my diagnosis, the renal specialist prescribed diamox for me. After several days of intermittent paralysis and consciousness, Calvin knew the drug was not helping and in fact, making me worse. He took me off of the drug and I did improve to where I had been previously. But, it had nearly killed me. The renal specialist refused to see me after that saying he could no longer do anything for me. The other doctors also said there was nothing they could do either. We were on our own and I was still dying.
Knowing that diamox/acetazolamide nearly killed me Calvin in desperation researched and studied until he found the answers to why I almost died and how to save my life. No doctors would help...they had all deserted us after my diagnosis of ATS. I was still in and out of paralysis...4 to 5 full-bodied episodes a day and all night with long QT heartbeats, choking, arrhythmia, fluctuating blood pressure and heart rate and breathing difficulties. My potassium levels were fluctuating between high and low. There was no one to help us (not even any of the existing PP boards because I did not have a genetic diagnosis) and he could not call for an ambulance...each of the times before, I had nearly died. He was dealing with this ALONE.
He discovered the side effects of the diamox, and knew I was in metabolic acidosis from it.. He found out about the pH balanced diet and bought everything he needed and began to feed me the diet, at first using a juicer to make sure I got everything I needed. He bought the supplements he knew I needed from his research. He helped me to figure out my triggers and took them out of my life or made sure I was not exposed to them. He made charts and kept track of it all. I could not breath well and it was worse during the episodes. I could not sit up at the table to eat without my blood pressure going sky high and my oxygen dropping.
In desperation, he went into the Lincare in our little town in Oregon. He told them our story and they "listened". They came out and did a free overnight recording oximeter reading. They caught several serious dips in oxygen during the night (in and out of paralysis) and dips when I was in paralysis and with any exertion. They took this information to one of my doctors who had no choice but to put me on oxygen twenty-four hours a day.
I owe Calvin my life. He watched me as I lay dying. He figured out what was wrong and how to save my life and treat my symptoms.
Due to all of the things he did, my episodes were reduced to one or two a month. By the end of 6 months, my A1c levels dropped, my cholesterol levels dropped and I lost 25 pounds. I was able to become functional again and regain some of my life. I have been able to create this website and forum and write our book and publish it and am now ready to publish our second book about Periodic Paralysis.
We knew that we needed to share what we had discovered. We wanted to help others who were also ALONE and not getting help. We knew there were others who could not use diamox and acetazolamide and need a way to manage their symptoms and paralysis, naturally. We created our website and discussion group in order to do that. That has now grown into our forum. We also wrote our book. We wanted to help others who were/are in our shoes.
Since my diagnosis eight years ago, Calvin and I have co-founded and co-created the Periodic Paralysis Network, Inc. We are incorporated and are now co-managers of our forum containing our 'support, education and advocacy' group with over 825 members from around the world, several other distinct discussion groups, a Blog, two Facebook pages and we have written and published four books: Living With Periodic Paralysis: The Mystery Unraveled, The Periodic Paralysis Guide and Workbook: Be The Best You Can Be Naturally, A Bill Of Rights For Periodic Paralysis Patients and What is Periodic Paralysis?: A Disease Like No Other, which is an extensions of our website and the only books written about Periodic Paralysis. We work towards the improvement of the quality and safety of patients from all over the world with the various forms of Periodic Paralysis. Our focus is on educational resources to build self-reliance and self-empowerment and to prevent possible harm from improper treatment. Our approach to treatment focuses on the self-monitoring of vitals and the management of symptoms through natural methods. We also offer strategies to understanding the disease, getting a proper diagnosis, managing the symptoms, and assisting caregivers and family members. We continue to do research and provide the latest information to our members. Everyone is welcome. Members will receive encouragement, support, sympathy, empathy and validation. Members will also gain information and knowledge about all aspects of Periodic Paralysis.
The Books: “Living with Periodic Paralysis: The Mystery Unraveled,” "The Periodic Paralysis Network Workbook And Guide,” “A Bill Of Rights For Periodic Paralysis Patients” and “What Is Periodic Paralysis: A Disease Like No Other"
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