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Giselle was always a daddy’s girl. An only child, she took after her father in every way. When he reached his senior years and started having serious health issues, she became his primary caregiver. One day, the 56-year-old Chicago native noticed that her father’s feet were severely swollen. When he admitted they’d been that way for over a year, Giselle was baffled. “I immediately took him to the cardiologist who ordered multiple tests, but it took another two years before he received a diagnosis of hATTR amyloidosis,” she says. “This is when the doctor also explained the condition and that the ‘h’ stood for hereditary. I was shocked.”  

[video width="1920" height="1080" mp4="https://www.oneamyloidosisvoice.com/wp-content/uploads/2024/03/Family-Health-History-Road-Trip_Sizzle-Reel_FINAL.mp4"][/video]   – Family Health History Road Trip Program Aims to Inspire Conversations About Health History and Empower Families to Take Control of Their Health – – Genealogist and Health Educator Bernice Bennett Travels Cross-Country to Visit Members of hATTR Amyloidosis Community and Highlight How Discussing Family Health History Can Drive Earlier Diagnosis – CAMBRIDGE, Mass.--(BUSINESS WIRE)--Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today announced the launch of the Family Health History Road Trip, its program designed to encourage conversations between family members about their health history so they can discuss with their doctor to better understand their risk for developing an inherited disease like hereditary ATTR (hATTR) amyloidosis. Inspired by the traditional family road trip, the program follows genealogist and health educator Bernice Bennett as she embarks on a cross-country road trip to meet with a physician expert in hATTR amyloidosis and affected families to learn more about the disease, hear patients’ journeys to diagnosis and explore how knowledge of family health history can drive an earlier diagnosis. “When we speak about family history, we often focus on the stories about what country we came from, where family immigrated to, or what types of jobs or professions they held; what we don’t tend to focus on is the health history of those who have walked before us,” said Bennett. “Family history is considered one of the most important risk factors for health problems. Knowing your family’s health history empowers you with important information to share with your doctor when seeking a diagnosis or determining your risk for developing an inherited disease like hATTR amyloidosis.” Continue Reading

My name is Jason Conway and I am a husband, father, teacher, and coach. I am 48 years old and have lived a pretty normal, healthy life. I have always been active and have taken care of myself. I am also an amyloidosis patient. My life changed drastically in January of 2015. I was with my daughter at my son’s basketball game and I started having cardiac problems. Being a guy, I just wanted to ignore the racing heart and the difficulty of walking up the bleachers. My daughter didn’t ignore the symptoms and made sure to tell my wife when we got home. In hindsight, I’m glad she did because the next day I was admitted into the hospital with cardiac related concerns. The doctors diagnosed me with cardiac myopathy.

A sports performance trainer, competitive body builder and lifelong athlete, Wayne Howard thought it was odd when he could not catch his breath during the warmup portion of a Crossfit class back in the summer of 2016. “I went to the bathroom, splashed some water on my face, and tried to continue the class, but I had to sit out,” says Wayne. “The next day, I started out on a run with my wife Jodi. I did not get 20 strides in before I could not breathe. It brought me to my knees.” A visit to his local doctor’s office in Punxsutawney, Pennsylvania, led to a diagnosis of asthma, but using an inhaler did not help. At a follow-up appointment at a larger medical center in Pittsburgh, Wayne underwent a heart biopsy that led to a diagnosis of cardiac AL amyloidosis.

When Ricardo rides his stationary bike he leaves the memory of heart failure further and further behind. After he was diagnosed with amyloidosis, specialists at Newark Beth Israel Medical Center were able to arrest the production of amyloid protein that destroyed his heart and perform a heart transplant.   Ricardo had felt his life waning for two years but doctors could not find the problem. “I used to walk a mile and a half to work but suddenly I was so exhausted that just taking a shower was a mission. None of the medications helped me,” he remembers.   Primary AL amyloidosis is a rare blood disorder that results in production of abnormal protein (amyloid) that is deposited as fibers on organs such as the heart, kidneys, nerves and intestines. Because the condition is uncommon - only about 3,000 Americans are diagnosed each year. Most physicians have little experience diagnosing or treating the condition.  

I was diagnosed as a child with a disease called bronchiectasis. This chronic disease eventually caused my AA amyloidosis which affected my kidneys and eventually led to kidney failure. My kidneys had been failing for nearly 20 years so when in 2005 I was told I needed dialysis I thought I would take this all in my stride. How wrong I was as I suffered a huge grief reaction and felt I had failed in my life. But dialysis was my only hope of living so I had to try and get over my feelings. I had a fistula put in my arm in March 2005 and started treatment eight weeks later. From the beginning I had very supportive staff around me but I had lots of problems with my immature fistula vein and would only allow chosen nurses to put my needles in. This led to the suggestion, given in a caring but straight way, that if I was going to be choosy I should learn to needle myself! This proved to be difficult as the neuropathy from my amyloidosis had affected the ends of my fingers made feeling for the vein very hard.

Three years ago a dream came true. After years of trying, l was blessed to give birth to my son. Shortly after giving birth, I began to experience a series of strange health issues ranging from severe joint pain, severe fatigue, digestive disorders, rashes and general malaise. I consulted a dermatologist late 2016 for hair loss, later determined to be alopecia areata. Labs tests were completed and a number of abnormal results including a positive ANA (looks for autoimmune diseases), Positive SCl-70 (a test for Scleroderma), abnormal immunoglobulins and elevated CRP (measures protein in the blood) and sedimentation rates (used to detect inflammation in the body) were noted.

Two days before he was scheduled to die, John Shields roused in his hospice bed with an unusual idea. He wanted to organize an Irish wake for himself. It would be old-fashioned with music and booze, except for one notable detail — he would be present.   The party should take up a big section of Swiss Chalet, a family-style chain restaurant on the road out of town. Mr. Shields wanted his last supper to be one he so often enjoyed on Friday nights when he was a young Catholic priest — rotisserie chicken legs with gravy.   Then, his family would take him home and he would die there in the morning, preferably in the garden. It was his favorite spot, rocky and wild. Flowering native shrubs pressed in from all sides and a stone Buddha and birdbath peeked out from among the ferns and boulders.  

When Manuel Rivera-Alsina, MD, first started feeling tired and short of breath, he blamed it on getting older. But when Manual, a maternal fetal medicine doctor, felt unable to keep up with hospital rounds, he knew something was seriously wrong. Manuel first met with cardiologist, Mazen Hanna, MD, a member of Cleveland Clinic's Heart & Vascular Institute. A heart biopsy and an array of tests revealed that he had AL Amyloidosis. In AL, plasma cells produce an abnormal antibody protein. This protein buildup forms an amyloid, which latches on to tissues, nerves and organs. In Manuel’s case, the amyloid on his heart was putting him in congestive heart failure. Because amyloidosis is treated like a cancer, Manuel then met with oncologist Jason Valent, MD, from Cleveland Clinic's Amyloidosis Center.

Dona Osterhout was only 48 years old when she noticed that she was having a hard time keeping up when she went hiking and biking with her family.   “At first, I just thought it was just my aging and getting out of shape,” recalls the grandmother from Paul, Idaho.    Eventually, she could barely walk and knew it was time to seek medical attention. “I went to see the doctor here in Paul, and he said my heart was in such bad shape I should just get my affairs in order,” Osterhout says. Rather than follow those discouraging doctor’s orders, she and her husband Larry came to University of Utah Health's doctors for a second opinion.

In November 2014, then 53-year-old Eric Polans was rushed to the emergency department of his local New Jersey hospital, with breathing problems. At the hospital, after five days of running tests, they believed he had two leaky heart valves. But there was a problem. The doctors felt his symptoms were not typical for leaky heart valves, so they were not sure what was causing his symptoms. Based on the hospital testing, Eric’s condition confounded his primary care doctor, who referred him to a cardiologist. But after four months, the cardiologist had yet to devise an effective treatment plan. “The doctor was treating me for leaky heart valves and was considered having valve replacement surgery on me,” Eric recalls. “He decided to run one more test — an MRI of my heart. In that MRI they found the amyloid protein.”

Friends and family celebrated with Cindy Catlett on her “re-birth” day, on September 24, 2019. The big event marked the first anniversary of her back-to-back heart and kidney transplant surgeries. She was the first patient at Cleveland Clinic with AL amyloidosis to undergo chemotherapy to stop production of the amyloidosis protein, followed by heart and kidney transplants to counteract the damage the condition had caused.    “It’s been quite the adventure for me and truly a miracle that I’m alive. Without my hospital team, prayers and our faith, it would have been much harder to get through this,” she remarks.   Cindy, now age 65, was in good health in 2016 when she noticed, during a car ride to and from Cincinnati, that her legs and ankles were swollen. Shortly thereafter, she and her husband, Ron, saw the swelling again.  

I am writing to tell my story and help others. Everybody is different, but a terrible, incurable, fatal disease equalizes us all. There is wisdom and understanding that comes through adversity and suffering. It is much easier to read about than experience, but knowledge can be passed on and I can provide some counsel and comfort for those in similar situations.  This is particularly true of your own life. There are a lot of really terrible diseases out there, and mine was a very bad one that came out of the blue. My terrible surprise came when I was 58, vigorous and in good health, working out almost every day. 

The Story of Ramona RARE DISEASE DAY Living with Autoimmune Neutropenia and AA Amyloidosis On the occasion of  RARE DISEASE DAY I’d like to share a few words about me. I’ve been coping with AUTOIMMUNE NEUTROPENIA at least since 2008 when a simple bloodwork showed very low leucocytes and especially low neutrophils. For the ones that aren’t aware of this rare blood disease AUTOIMMUNE NEUTROPENIA (and also chronic severe neutropenia and cyclic neutropenia) is a serious disease part of IMMUNODEFICIENCIES  which puts you at risk for severe recurring  infections.  My neutropenia is chronic (lasting for many years), autoimmune because I have ANCA antibodies which destroy my neutrophils and also severe as my neutrophils are  less than 500 per microliter. It is a condition that makes you always be on the lookout for infection. Things that for others are natural for neutropenic patients imply careful consideration: like hanging out at indoor closed places like theaters and malls (during influenza season), like having a tatoo, or swimming in a lake….It may  seem exaggerated but I assure you it’s not.

For several years, CeCe was living with mysterious health challenges. After seeing numerous specialists and being misdiagnosed multiple times, CeCe finally found out she had hereditary ATTR (hATTR) amyloidosis, a rare, genetic disorder caused by the buildup of an abnormal protein that often affects the heart, nerves, and GI systems. This journey started many years ago, when CeCe was 55. “I started having carpal tunnel syndrome in both hands,” she says. “I would wake up in the middle of the night with extreme pain. The muscles and nerves in my hands and wrists would suddenly start burning and stinging with hot, cutting pain radiating up both arms. The pain was horrible, and I cried many nights.”  

In late 2019, Lloyd Smith was suffering with symptoms that were later thought to be COVID-19, although he never had a conclusive test. At the time, the world was still struggling to understand the virus, and Lloyd avoided health care settings as the media was recommending. Months later, he was struggling to even make the short walk to the mailbox and back. “I went from being healthy, normal and active to being a zombie,” he says. “My breathing was so shallow, and I was gasping for air. Because I lived alone, every day was a struggle.” Knowing he needed answers, Lloyd began researching his options. “Even before I had my appointment at The James, I knew I had found five-star doctors because I did my homework, and I was also told by a friend that that would be my best option for treatment.”

When Greg first learned about a rare disease affecting his brother, he had no idea that the illness would come to define his own life, or that his search for answers would take him on a journey going back generations to his Irish ancestors. Greg grew up in an active family. As a climbing instructor, guide and designer of outdoor equipment, his love of the outdoors was at the center of his life.  So when the keen rock climber started having nerve problems in both wrists that made it difficult for him to grip tightly, he was crushed and knew he needed help. At first, he thought it was carpal tunnel caused by the repetitive flexing needed in the sport. But after further testing, Greg was diagnosed with polyneuropathy of hereditary ATTR amyloidosis (hATTR) — the same disease that had robbed his beloved older brother of his independence, ability to function and eventually, his life.

Millen’s down around 50 pounds in the past year, chasing a cure for a disease called amyloidosis that is particularly evil. He needs debilitating chemotherapy now to fight amyloid, a rogue protein that attacks organs (his heart, in this case). Because the amyloid is attacking his heart, he’ll eventually need a heart transplant to have a chance to live many more years. It took doctors almost as long as his ill-fated NFL executive career lasted to find out he had Amyloidosis. He traveled to New York, to Los Angeles, to Rochester, Minn., to Philadelphia, to Chicago, with multiple doctors seen in a couple of those cities, before finally finding out this truth from a doctor in Jacksonville a year ago. 

Retired ophthalmologist Merrill Oaks was enjoying an active life and spending time with his family when he started to experience symptoms of kidney failure at 77. “All of a sudden, I gained a lot of weight and my ankles were swelling,” Oaks recalls.   He went on dialysis, losing 25 pounds of water in a bid to help his kidneys recover. The next step was figuring out what caused his kidneys to malfunction so severely. Josephine Abraham, MD, a nephrologist with University of Utah Health, ordered a kidney biopsy and diagnosed a plasma cell disorder called amyloidosis.  

Michael York, the enduring actor whose film credits include Cabaret, The Three Musketeers, and Logan’s Run, is settling into his next act two-thousand miles away from Hollywood. Earlier this year, York and his wife of 54 years, Pat, listed their longtime home in Los Angeles and set their sights on southern Minnesota. After years of traveling here for care at Mayo Clinic, the couple had decided it was time to permanently relocate to Rochester — and be closer to the institution that York credits for saving his life. The York's’ connection to the city goes back to 2012 when Pat was put in touch with retired Mayo physician Dr. Robert Kyle, an international expert in hematology. Pat informed Dr. Kyle of Michael’s symptoms, including dark rings around his eyes, and that Michael had been receiving treatment for multiple myeloma, a type of bone marrow cancer. But Dr. Kyle had another thought: He believed York may be suffering from a rare blood disease known as amyloidosis, and encouraged him to travel to Rochester.  

Back in 2015, I went to see my primary care manager (PCM) several times because of fatigue and feeling feverish (when I didn’t have a fever). My muscles and bones were hurting. I was also retaining water, my feet and ankles were huge. I switched PCM around September of 2015 and told her what was going on, how I felt tired all the time, etc. She took the time and ran tests. I received a call from a nephrology doctor saying that my PCM had referred me to her and she needed to see me ASAP (I go to military hospitals). I went and she explained to me that my kidneys were failing but she didn’t know why. I am not diabetic, so that was ruled out. I have high blood pressure, but under control.

My condition worsened until the beginning of August 2019. My legs were completely swollen; my ankles had become non-existent because they were so swollen. I started having what I thought was an allergy or hives on my right leg. It was red, swollen, and itchy. My niece, who is a nurse at the Montreal Heart Institute visited me and did not like at all what she was seeing.    After all the exams I have taken, a careful study of my file has shown the possibility of infiltrative heart disease. A heart biopsy was taken and it was then that the diagnosis was made: light chain amyloidosis with cardiac involvement. Luckily, it was the only organ affected.  

Just informing everyone that on September 1, 2017, I was diagnosed with a rare blood disease called Al Amyloidosis. I call it "Amy" for short. May this year I had my annual blood work done. Normally everything usually comes back normal, except my HDL's could be higher, my LDL's could be lower etc. but I had a high in my creatinine level which has to do with kidney functioning. Upon further testing it was determined I had quite a lot of protein leaking into my urine.   My primary physician sent me to a kidney specialist which ordered more tests, ultra sound of kidneys, bone survey to rule out myeloma (bone cancer), many, many blood tests and finally August 28th 2017 a stay in New Hanover Regional Medical Center for a kidney biopsy, which they took pieces of my kidney and sent to the University of NC, Chapel Hill for results.   

Jean Williams, 65, has been seeing the same primary care physician for years. Perhaps this familiarity afforded her the ease with which to openly discuss her care. A veteran traveler, Jean had experienced symptoms of hereditary ATTR (hATTR) amyloidosis, a rare disease characterized by the buildup of misfolded transthyretin proteins (known as amyloid deposits) in the body, for a long time. The symptoms of hATTR amyloidosis can vary widely and affect several parts of the body, including the peripheral nervous system, cardiac system and autonomic nervous system.  

For three years Aileen Watt and her husband Alex travelled over 200 miles every week from the north west of England to the Royal Free Hospital in Hampstead, so he could receive specialist life-prolonging treatment for the rare condition, amyloidosis.   In January of this year Alex sadly died at the age of 69, but his family say they will always be grateful for the treatment he received at the hospital, enabling him to live long enough to meet his three grandchildren.   Now they want to talk about the condition to raise awareness about the ground-breaking research work taking place. The National Amyloidosis Centre, based at the Royal Free Hospital, has been at the cutting edge of treatment and research into all aspects of the condition since 1999.  It was established by Professor Sir Mark Pepys, the first UK physician specializing in amyloidosis.  

At Ionis, our efforts begin and end with the patient in mind. From discovery to development to getting medicines into the hands of those who need it, we are inspired by the needs of the patient communities we serve, and fueled by the promise of our science. Every aspect of what we do is grounded in patient perspectives.   Take a closer look at some of the people who inspire our work.  

When Pat Jordan, 65, was officially diagnosed with hereditary ATTR (hATTR) amyloidosis in May 2016, her first thought was, “Well, now I know how I’m going to die.” Her second response, however, was one of relief, because the diagnosis finally put a name to the various medical problems she had been experiencing over the past 20 years. There are many forms of amyloidosis, some of which are similar to blood cancers. hATTR amyloidosis is not cancer, but it is a debilitating, life-threatening disorder caused by a gene mutation that affects transthyretin (TTR), a protein made primarily in the liver that helps carry substances like thyroid hormone and vitamin A throughout the body. hATTR amyloidosis can affect the peripheral nervous system, the autonomic nervous system and the heart, and because there is currently no cure, it’s considered a terminal disease.

For somebody in need of a diagnosis, the internet can be a dangerous tool.   However, for Darcy Tannehill, who had already dedicated most of her life to research and education, no potential search result was scary enough to deter her from trying to understand the health issues she was experiencing.   Until her death in April, Tannehill served as the Associate Professor of Education at Robert Morris University in Pittsburgh, PA. Previously, she worked as a manuscript editor and a research journal reviewer. Her undergraduate degree in psychology and sociology and her master’s degree in education are from Duquesne University. Her doctorate in administrative and policy studies - higher education management is from the University of Pittsburgh.  

In February 2014, Sondra Kunes was feeling a little more fatigued than usual, but wrote it off as being 54 and raising five children ranging from their early teens to early 20s. Several years earlier she had undergone bariatric surgery for weight loss, and had read that some gastric bypass patients suffered from anemia, so she went to her doctor to get checked out.   “Nothing was wrong with my blood work, but my protein was quite low,” she recalled. By May, when she put on her sandals on a warm day and noticed that her feet were swollen, she went back. A 24-hour urine test showed that she was excreting a great deal of protein, so Mrs. Kunes was sent to a nephrologist for a kidney biopsy.

His symptoms began with dizziness, shortness of breath, heart palpitations and edema in the ankles, feet and calves. After visiting with multiple doctors, in 2007 Len Strickland was diagnosed with familial (hereditary) amyloidosis, a rare hereditary disease that eventually leads to congestive heart failure.   After approximately a year of tests, in March 2008, Len was officially placed on the regional heart transplant list. The categories of placement on the list are 1A, 1B and 2 with 1A being the most severe. Len was told he had been designated as a type 2 and to keep his hopes for a heart transplant to a minimum.  

In 2013, I was 55 and living life to the fullest. I had 2 Grandsons and my Daughter was expecting a little girl. We live on close to 8 acres. I was mowing, gardening and swimming with my youngest Grandson. I noticed that was feeling a little tired but assumed that as hard as I was working and with my age that was pretty normal.   My Granddaughter was due in December and I was excitedly planning a baby shower, helping my elderly Aunt move and starting to prepare for Thanksgiving and Christmas. I began to notice that my back was hurting quite a bit and that my feet and legs were swelling and really painful. Of course I would lay down or put my feet up and they would go back down but the pain was still pretty bad.  

When I was a child I remember visiting relatives on the part of my father, and I noticed that some were very sick. Very thin, leaning on canes or even a wheelchair. At home, I noticed that my father would sometimes receive a phone call informing him of the death of someone, usually young people in their 40s. I was the oldest, of 4 siblings, and I had no idea what was going on or what was waiting for us.  

I live in Los Angeles in California but, as a performer, have had the good fortune to travel and work internationally for the past 50 or so years.   My amyloidosis announced its unwelcome arrival around 2008, if not a little before, when I was in my late 60s, with the manifestation of persistent dark circles around my eyes. When these worsened, with the deep shadows taking on a purple hue, a hospital checkup concluded that I was suffering from multiple myeloma with an amyloidosis association.   Having practiced homeopathic and naturopathic medicine for most of my adult life, my first instinct was to treat this condition by the same means. Initially I had some success, delaying the onset of more severe symptoms. But these inexorably arrived and eventually I was persuaded to undergo chemotherapy at a local hospital in Los Angeles.  

Can you imagine living 11 years with a life-threatening disease you didn’t know you had? For Walt, that’s how long it took to learn that his symptoms were caused by transthyretin amyloid cardiomyopathy (ATTR-CM), a rare, life-threatening condition that affects the heart and is associated with heart failure. ATTR-CM occurs when transthyretin, a normal transport protein, becomes unstable. The unstable protein misfolds, creating amyloid fibrils that can build up in your heart and other parts of your body. The buildup causes the heart muscle to stiffen over time, eventually leading to heart failure. In 2007, Walt was diagnosed with congestive heart failure and bilateral carpal tunnel syndrome. Though he was shocked by these diagnoses, he followed the advice of his doctors to manage his conditions. Soon after, new symptoms emerged, including shortness of breath, ruptured biceps tendon, lumbar spinal stenosis and an irregular heartbeat. Walt didn’t know at the time that these seemingly unrelated symptoms were the first signs of ATTR-CM.

AA - Secondary Amyloidosis is a Facebook group that was created on 30 December, 2014. This group is for patients and caregivers with Secondary Amyloidosis (AA) due to Rheumatoid Arthritis, FMF, Crohn’s or any other disease that effects the immune system causing AA.

Action for Amyloidosis is an all-volunteer, non-profit organization that benefits patients, families, the medical community and others affected by amyloidosis with energetic programs of support, education, and fundraising. Action for amyloidosis will intensify the momentum already generated by existing groups battling the disease, and seek collaborative efforts to hasten the successes for which we all so fervently strive.

ALECT2 Amyloidosis Support is a Facebook group that was created on  14 May, 2016. Dorothy Sintas-Abeyta is the patient representative of the ALect2 Alliance. When we have more patients joining with this rare form of amyloidosis, we can merge our efforts to further clinical trials and help each other by sharing knowledge and advocacy.

Amyloidosis-CAA- Cerebral Amyloid Angiopathy is created on 16 June 2017 by Muriel.

Amyloidosis - Wild Type - ATTRwt - wtATTR is a Facebook group that was created on 27 June, 2017. This group is for patients diagnosed with Wild Type Amyloidosis.

Amyloidosis ATTRv (hATTR) - Hereditary - FAP - FAC is a Facebook group that was created on 7 September 2014.

It has been twelve years my father an olympic athlete was diagnosed with amyloidosis. Through the years he has had chemotherapy, dialysis, a stem cell transplant, a kidney transplant and has been a patient to many trail medications and treatments. Doctors have not yet found a cure for amyloidosis and I would like to spread amyloidosis awareness to build support, knowledge and research to find a cure and help save the lives of amyloidosis patients. With spreading awareness in the near future doctors can take precautions for amyloidosis just as they do for other blood diseases and cancers.

This page is to offer positive support to the family members, friends and caregivers of loved ones with amyloidosis. 

Amyloidosis Fibrinogen is a Facebook group that was created on 2 April, 2019. The people in this group have Fibrinogen Amyloidosis. You must answer the question to gain access to this group.

This is the official Facebook page for The Amyloidosis Foundation. This page is designed to raise awareness about amyloidosis and create a community for patients, families and friends affected by this disease.

Amyloidosis Gelsolin Hereditary is a Facebook group that was created on 7 November, 2017.

Patients, caregivers and loved ones with AL amyloidosis - If you do not answer the questions you will not be allowed to join.  We have other groups on Facebook for hATTR Amyloidosis FAP-TTR- Hereditary, Wild Type Wild Type- ATTRwt -wtATTR,, Amyloidosis Gelsolin Hereditary, Amyloidosis-Localized Airway, Amyloidosis- AA- Secondary amyloidosis, Amyloidosis-CAA- Cerebral Amyloid Angiopathy, Amyloidosis Widow/ers Support Group, Amyloidosis Orphans, Amyloidosis Took My Sibling, Amyloidosis Took My Child If you wish to join this group you must have the disease, have a loved one with it or caregive someone with the disease. 

Amyloidosis Localized is a Facebook group that was created on 21 June 2015 by Muriel. The name is recently changed from Amyloidosis-Localized Airway.

ApoA1 Amyloidosis is a Facebook group that was created on 6 March, 2018.

The Foundation's mission is to empower people with the knowledge and understanding of amyloidosis for earlier detection, ensuring a better quality of life for those afflicted with the disease and to help science find the cures.

The Adam Gardiner Fund Incorporation (AGF) raises money to support the Westmead Amyloidosis Centre in the treatment of amyloidosis, a group of diseases that cause a buildup of abnormal protein in tissues and bodily organs. The Fund also supports clinical research and aims to raise awareness for these life-threatening diseases. The Adam Gardiner Fund's mission is to raise funds & awareness for amyloidosis while working within the structure of Westmead Hospitals Immunology Department and its Institute for Immunology & Allergy Research (IIAR).

Rare Disease Day takes place every year on the last day of February. The purpose is to raise awareness about rare diseases and their impact on patient’s lives. Most rare disorders have no cure, and many go undiagnosed. Raising awareness can encourage researchers and decision makers to address the needs of those living with rare diseases. According to CORD (Canadian Organization for Rare Disorders) as many as 1 in 12 Canadians will be impacted by a rare disease. Amyloidosis is one of them. Many people with Amyloidosis will see multiple doctors and be misdiagnosed. It may take years to receive an accurate diagnosis. Sadly, there are some who never manage to get diagnosed. The Amyloidosis Foundation reports that experts suspect some types of Amyloidosis are not that rare, but rarely diagnosed. Awareness of the amyloidosis diseases, particularly within the medical community, can lead to earlier diagnosis. This means better treatment options and a brighter prognosis. Raising awareness of rare diseases, like amyloidosis will encourage research and lead to earlier diagnosis.

The most widely used system is the European modification of the original 3-stage Mayo 2004 system which uses Troponin T or I and NT-pro-BNP to divide patients into Stages 1, 2, 3a and 3b. The Mayo 2012 system, which incorporates serum free light chain levels, is another 4-stage variation on this theme.  Finally, there is a British cardiac staging system for transthyretin (ATTR) amyloidosis which was the subject of a prior amyloidosis JC discussion. What all of these publications have in common is the use of NT-pro-BNP as a key cardiac biomarker. What all medical centers don't have in common is the ability to order this test without having to send out a blood sample.  

I hope everyone had a wonderful Easter weekend! Being that this past Friday was Good Friday – dad had his chemo treatment last Thursday and started as usual – getting blood drawn by Mrs. Jean. Once the numbers came back acceptable – he started his chemo treatment. Dr. Pingali didn’t come in today, so it was just the chemo appointment.   As far as this coming week goes, he is supposed to be meeting with the Dr. Trachenburg (the cardiologist) sometime later in the week and then will have his 18th chemo appointment on Friday.   As he is going to be starting the additional testing please keep the prayers coming!  

Bicep bunching may be a marker for ATTRwt. According to MedPage Today, spontaneous ruptures of the distal biceps tendon may be a marker of wild-type transthyretin (TTR) cardiac amyloidosis, a single-center study found. The presentation of a tendon rupture, an easily elicited diagnostic sign, in a patient with HFpEF should raise suspicion for wild-type TTR cardiac amyloidosis.   Bicep bunching may be a marker of wild-type transthyretin (TTR) cardiac amyloidosis, potentially giving physicians an easy way to determine the underlying cause of heart failure with preserved ejection fraction (HFpEF) in some patients. Those who were aware, reported that the distal biceps tendon ruptured approximately five years prior to heart failure diagnosis, thus perhaps offering a leading insight.

There are times when those afflicted with amyloidosis need assistance - a caregiver. In some instances, such as a stem cell transplant (SCT), the treatment is so extensive that securing a caregiver is required before treatment commences. It is for these situations that we thought we’d share some thoughts about how to build a caregiver team. The role of a caregiver can be intensive and draining. In particular, SCTs performed on an outpatient basis, while deemed to be good for patients, shift a significant amount of work to the caregiver.

Recently I saw a movie with Robert Redford, "All is Lost". Takes me back. Before we were married my future wife and I charted a bare boat Morgan 29' sloop in the Bahama Out Islands at Hope Town. Right under the candy cane striped lighthouse. As a teenager I crewed and sailed Comets - 16' sloop.  I hadn't been sailing in 10 years. It was an adventure. Redford's sloop wasn't much bigger than the Morgan 29' we had rented. To be 1300 miles out to sea like Redford. In a boat that size is crazy. We were always in sight of land and I had made up my mind if we were in real trouble, I'd just beach it. The hell with liability.  The sailing was great. Out islands form an oval shaped loop and by staying inside the loop you were never out of sight of land. The last day, on the way back to Hope Town, the wind really kicked up. 

In patient news, I know of one patient who had a combined liver and kidney transplant in 2018, and as I mentioned in the previous blog post, the third liver-only transplant for fibrinogen amyloidosis occurred in December. The use of liver-only transplants for fibrinogen amyloidosis is being covered more in the medical literature now, so that is good news. Speaking of good news, I continue to get my annual physical exam and I am still asymptomatic.

This blog is about God's faithfulness. Yes, I still attest to God's faithfulness even though I was a health-conscious, active 50-year-old woman who was diagnosed with a rare, incurable blood disorder that is fatal if left untreated (Primary AL Amyloidosis with or without Multiple Myeloma depending on which medical opinion is used). I have received many wonderful blessings in my life and never once questioned whether I was worthy to receive them. When this diagnosis was received, I knew it would be hypocritical to question "Why me?" God has been faithful throughout my health battle. From the first day (literally 14 hours after my diagnosis), I felt God telling me during my morning prayer that we would beat this. I underwent high dose chemo and a stem cell transplant in April 2013 at The James Cancer Center at Ohio State University. 

As I reflected upon this miraculous blessing in my own life I thought back on all of the moments and memories that I have had in these past nine years.   I have seen 7 grandsons born, we have traveled the world and found countless natural and cultural discoveries, both at home and abroad. I was able to return to work for eight years and thereby helped in curing cancers and improving countless lives. I still spend every day with the love of my life, which is the best gift of all. I wrote a book. I became a pilot. So many more moments of beauty communing with nature and communicating with others which are innumerable; all because of a heart. Is there a happier man than me? I think not. To be present at such gatherings, to return to work full time, to see my grandchildren born and develop. To have a new heart for six year that remains free of amyloid deposits, the wake up and fall asleep next to my true love and eternal companion everyday is more than I could have dreamed of a few short years ago.

Losing one’s immune system is a serious consequence of a stem cell transplant, putting the body at risk for viral, fungal, and bacterial infections. Rebuilding the body’s immune system is a key part of the recovery. A stem cell transplant (SCT), whether autologous or allogeneic, begins with chemotherapy, which is intended to eradicate problematic cells. Especially when administered in high doses, chemotherapy damages the bone marrow, leaving it unable to produce enough red blood cells, white blood cells, and platelets for a period of time – hence the reason for the re-infusion (or transplant) of stem cells. 

If you have been diagnosed with a rare disease, I’m sure that at some point you have met a nurse or a doctor who has never heard of your condition. Doctors and nurses have a very stressful and essential job and we would be lost without them. But they are human. And no one can be an expert in every condition or disease that exists. Which is why it’s a good idea to be an active member of your health care team and advocate for yourself to ensure your needs are being met.  Once you have the diagnosis, do some research. Find the best specialists near you and ask to be referred to them. Ask your doctors, hit the internet, join a support group and reach out to others who have your disease. Ask around and find the experts! They are the ones you should put your trust in.

It’s been a couple of months now, and I’m pleased to say I am tolerating the new drug, Carfilzomib, brand name Kyprolis, very well. I’m now on the ‘Dara’ (Daratumumab AKA Darzolex) just once a month, but I’m getting the Kyprolis 6 times every three weeks, so I am getting to know my nurses very well! The Kyprolis visits are relatively short, lasting an hour to 2 hours each time, depending on whether we are doing lab work, etc.   On the Dara day each month, the Kyprolis adds another 10 minutes onto the 5 hour visit. The Dara days are the nap days. I’m still getting nothing done, but it is incredibly relaxing as the Benedryl takes hold and I’m off to a delicious dreamland for an hour or two or three.

Have you been diagnosed with carpal tunnel syndrome? In both wrists? Are you a man over 50 or a woman over 60? Do you also suffer from congestive heart failure or other heart disease? Can the numb, tingly fingers of carpal tunnel syndrome be a harbinger of undetected heart disease?   If you’re in your 50s or 60s and you have just developed carpal tunnel disease, it’s possible that a serious disease – amyloidosis – may be lurking in your body. And you’re even more likely to silently suffer from this disease if you’re also a male who had a ruptured biceps tendon or lumbar stenosis.   If you’ve had carpal tunnel, you probably know that the numbness comes from compression of the median nerve, which goes from your wrist to your fingers. If you’re like me, you probably never even mentioned this carpal tunnel diagnosis to your cardiologist. Why would you?  

Alnylam Assist® is a comprehensive patient support program that offers truly personalized assistance to patients getting started on treatment with AMVUTTRA or other Alnylam products.  

The chart presents the idea about amyloidosis drugs and its medicare coverage.

Cancer is expensive. But knowing some key tips on how to manage your medical bills can help you avoid unnecessary expenses. This Quick Guide will cover some ways to reduce your costs before you get medical care and after. The most effective way to avoid high medical bills is to make sure that you have adequate health insurance coverage that covers your health care providers and your prescription drugs.  

Janssen Compass™ offers free, personalized support when you are prescribed a Janssen oncology therapy. Connect one-on-one with your dedicated Care Navigator (an experienced oncology nurse), who can help you find financial assistance and provide educational treatment support based on what you tell us you need most. Care Navigators will not perform a nursing function and will always refer patients back to their care team.  

The VyndaLink team can help patients understand health insurance coverage for VYNDAMAX and can offer potential financial assistance options. We can also help patients along their journey by connecting them with local resources and organizations that provide social and educational support. The dedicated VyndaLink Patient Support team is here to help.  

Browse free educational resources on practical and legal issues that arise after a cancer diagnosis like health insurance, financial toxicity, disability insurance, work and employment, and more.