OSWEGO, NY Ã¢â‚¬â€œ The Amyloidosis Support Group will meet from 9 a.m. to 3 p.m. on Aug. 29 in the Weiner Conference Room of Rochester General Hospital, 1425 Portland Ave., Rochester.
A complimentary light breakfast and lunch will be provided (RSVP requested).
Amyloidosis (AMY- la-doe-sis) is a potentially fatal disease caused by the production and build up of abnormal proteins leading to organ failure.
The president of the ASG national organization is Muriel Finkel. [email protected]
“It is through her charity that the meetings are made possible,” said MaryAnn Kraft, of Rochester. “Amyloidosis can affect any organ or soft tissue. Symptoms therefore can imitate so many other illnesses. That is why this disease often goes misdiagnosed or undiagnosed!”
Cardiac and or renal failure is often the outcome.
The bone marrow is where the abnormal protein (antibodies) develop and travel through the blood stream to the organs and soft tissues, she said, adding, “The hereditary form is quite interesting as it can be traced back for generations, with the liver being the center of the problem with neurological symptoms associated along with the heart and kidney involvement.”
“There are no documented causes for the Primary type, but recently the VA recognized exposure to Agent Orange as being associated with this disease. So maybe an environmental cause and effect will be established someday,” she said.
Her husband, Dave, (not a vet) is a former resident of Phoenix, NY. He has Primary amyloidosis with renal failure.
He has had a stem cell transplant with partial response, she said.
Currently, he is on one of the newer IV agents to try and halt this disease.
“Four years ago, I was a seemingly healthy, active working 59-year-old. Than my diagnosis was confirmed and I am still fighting the battle,” he told Oswego County Today. “Amyloidosis – enter the realm of rare diseases.”
Statistics claim eight in a million, but amyloidosis is often misdiagnosed and therefore under diagnosed, he added.
The common age of diagnosis is after age 40.
“It is a group of diseases resulting from a faulty protein formation in which deposits can accumulate throughout the body leading to organ failure. There is no typical case, everyone is different,” he explained. “The heart, kidneys, GI system and nervous system can be affected and many symptoms are often mistaken for other conditions.”
According to Kraft, the three main types, each with different treatment plans, are primary (most common), secondary and hereditary. Without early diagnosis life expectancy is 12-18 months.
Confirmation of diagnosis through a Center of Excellence (Boston University Medical Center and Mayo Clinic) is vital to appropriate typing and treatment options.
“I have the Primary type with my first signs of problems presented as increase in cholesterol panel and protein in the urine (a sign often marked by frothing or bubbles). A kidney biopsy with special staining (congo red) specific to diagnosing amyloidosis identified a problem,” he said. “A hematologist followed up with a bone marrow biopsy and specific blood tests, a complete body bone scan and heart evaluation and pulmonary function tests.”
The autologous (his own cells) Stem Cell transplant with high dose chemo was recommended to him.
Boston and Mayo Clinic see the most cases and all the complications it can bring. Treatment if appropriate can be done at a local transplant center in collaboration with the experts in some cases.
In November 2005, he began a series of injections to stimulate stem cell production. A central IV access was placed in his chest for use in collection of his stem cells and also for infusion of chemo and return of stem cells.
There is the time when the bone marrow ceases production of any blood cells and the existing cells die off.
“Infusion of the collected stem cells is the rescue of one’s life!Ã‚Â Miraculously each stem cell knows its destination and beings production of blood cells. The time it takes to resume production and rebuild the counts is critical as infection and bleeding risks are high,” he said.
It took about a year for him to regain his stamina, weight and grow hair; yet chances of complete response were only 30 percent.
“I received a partial response, meaning the culprit rogue didn’t get wiped out completely. I remained stable through December 2008 when my kidney failure progressed and further treatment was necessary,” he said.
The experts suggested a new IV drug regime with steroids, which is his current treatment plan. The present IV drug is Velcade.
Coping with the side effects is the juggling act.
Dialysis is on standby if his kidneys should not respond.
It has been a process of close monitoring, frequent lab work, complete evaluations by the experts and drug and dosage adjustments.
“I am an avid golfer. And, to have a focus beyond illness gave me a goal and a diversion, and in my case understanding friends and family encouraging me back to the game after the stem cell transplant,” he said. “This is my own physical therapy and clears my mind for four hours on those days.”
The couple’s first reaction to a rare life-threatening disease?
“It was shock and despair. We felt so all alone as local doctors rarely, if at all, see this disease let alone treat it,” he said. “Searching the Internet can lead to outdated information and create even more panic. My wife discovered the Amyloidosis Support Group, a national non-profit through the charity of Muriel Finkel. We learned of the meetings held in more than 20 major cities in the US.”
His wife is co-facilitator in bringing meetings to the Upstate New York region.
Two meetings a year are held in the Rochester area and host guest speakers experienced in amyloidosis.
“The education, current developments and being with people who know first-hand what your path is like, give comfort and hope,” he said.
Along with support and education the ASG’s goal is to raise awareness of this life-threatening disease to both the public and medical communities.
For information about the disease, visit www.amyloidosissupport.com
To RSVP for the Aug. 29 event, call MaryAnn at 585-334-7501 or Muriel toll-free at 866-404-7539.