Another Echo today

Tuesday, January 27, 2009

Another Echo today

Chris had another Echocardiagram today with Dr Falk to get his most recent perspective on her heart status. He compared the results with the November echo and saw no change, either good or bad. He is waiting to get the May echo from BU and then will compare that to the one today to see what has really occurred over the last 8 months or so. This will give us the widest possible spread of dates and provide an indication of how things have changed. The May echo was her first. So really not any significant news other then we remain concerned about the overall status of her heart and its ability to keep up with an active lifestyle.

Chris did go to Yoga again and she really feels like this is good for her. She complains that she feels very tight and yet she is pleased with her strength. Hopefully she will keep this up, as well as more cardio exercise. The weather has been very bad here and this limits the outside walks of course.

Last week I was in Rochester, MN for a business meeting and I made a trip to the Mayo Clinic which is really the only other amyloidosis center in the world, or at least the US. Rochester is a very funny place as it is about 90 miles from Minn./St Paul and really has two major employers: Mayo and IBM. The Mayo clinic of course is world renowned for it's expertise and incredible staff, but you have to wonder how it ended up in Rochester. The facility itself is amazing. I am not kidding when I say that the lobby is a beautiful three story atrium and there is a man in a tux playing a grand piano. I felt as if I was in the Four Seasons hotel. It must be hard for those without health insurance or needing to cover ongoing medical bills to see this use of money, but it certainly was an incredible place. What I really wanted to see was the Amyloidosis Center, just to see what it looked like compared to BU. We had heard of many patients who had been to Mayo for clinics or evaluation and thus it would be interesting to see it. I asked at the front desk and of course they had never heard of amyloidosis and had no idea where to direct me. Then I asked where the Hematology dept was and they said the 10th floor which I then proceeded to go investigate.

I was looking for a picture of the Center, just a nameplate or a logo or something that indicated Mayo and Amyloidosis as I wanted to give it to Stephen for his fund raiser web site (http://chrisjourney.com/) A woman that worked in the Hematology dept asked if she could help (as I wandered around aimlessly) and I explained what I was looking for. She went back to the inner sanctum of the hospital and returned saying that she had asked one of the doctors, Dr. Morie Gertz, if he knew of a sign or poster or something that I could take a picture of and the answer was simply "nope, nothing like that". Oh well. Interestingly as she mentioned Dr. Gertz' name, it hit me that I had read many many publications of his in my quest to be the expert on this disease. I brazenly asked if I could quickly meet him, just to say hello and tell him how appreciative I was of his work (and maybe get a quote for Stephen's bike ride). She went back to ask and returned with a curt "he is unavailable". My intentions were very honorable, but oh well, it just did not work out.

So our next major step is to hear about the comparison of May's echo with the one today with Dr Falk. Ideally we will get some important insight into the real level of her ejection fraction. This is a big frustration to Chris and I as we really do not have consistent answers. Hopefully we will learn more in the next few days.

Chris has recently heard from a number of friends who had not heard of her illness. She is really glad to hear from them and as always I encourage everyone to please feel free to call her. The support from all just continues to energize her. Thanks to all who have reached out in so many ways.

What is Primary Amyloidosis?

Amyloidosis
What is amyloidosis?Amyloidosis is a disease in which an abnormal protein (amyloid) builds up in organs and tissues, impairing their function. Amyloid is a protein polysaccharide substance with starch-like characteristics.
What are the forms of amyloidosis?There are different forms of amyloidosis, distinguished by the type of protein fibrils (small fibers) that are deposited. The forms of amyloidosis include:
Primary amyloidosis -- occurs independently of other disease (no specific cause or disease is related to the abnormal protein deposits). Primary amyloidosis typically affects the skin, tongue, thyroid gland, intestines, liver, kidneys, spleen, lung and heart.
What causes amyloidosis?The cause of amyloidosis is unknown. Amyloidosis is thought to result from many factors.
Is amyloidosis a form of cancer?No. Amyloidosis is not a form of cancer, although it may occur in some people who have multiple myeloma.*
Multiple myeloma is part of a spectrum of diseases called plasma cell dyscrasia. Plasma cells are responsible for forming antibodies against bacteria and foreign proteins. For reasons that are unclear, these cells lose their ability to respond to controlling signals from immune cells. Plasma cells then divide and form abnormal proteins that damage the bone, bone marrow or other organs of the body.
What are the signs and symptoms of amyloidosis?
Weakness or fatigue
Weight loss
Heart damage (congestive heart failure)- Shortness of breath- Swelling of the feet and legs (edema)- Chest pain- Irregular heart rhythm- Lightheadedness (due to blood pressure lowering during sudden position changes) in the arms, feet or legs
Kidney damage (renal failure)- Swelling of the feet and legs (edema)- Shortness of breath- Decreased energy level- Anemia (low hemoglobin level)
Skin changes (such as a non-itchy rash, unusual sores or bumps, or thickening of the skin), especially on or near the eyelids, ears and body folds
Abnormal nail changes
Unusual hair loss
Unusual or easy bruising
Abnormal sensations or numbness in the feet, arms or legs
Swelling of the lymph glands
Enlarged tongue (uncommon)
Symptoms related to damage of the autonomic nervous system (autonomic neuropathy) including bloating or diarrhea -- these symptoms are especially present in the neuropathic hereditary amyloidosis (or "familial" amyloidosis)
Bone damage and bone fractures (if large amyloid deposits are present)
Changes in vision (caused by amyloid deposits behind the lens of the eye) may occur in familial amyloidosis
Sudden drop in blood pressure following changes in posture
Who is affected by amyloidosis?Amyloidosis is a very rare disease. About two-thirds of patients with amyloidosis have secondary amyloidosis; less than 5% have primary, familial or senile amyloidosis. There are about 2,000 cases diagnosed in the US yearly. In patients with primary amyloidosis, 95% are over the age of 40 and 66% are men.
How is amyloidosis diagnosed?The diagnosis of amyloidosis is often delayed either because the cause is unclear (as in primary amyloidosis) or the signs and symptoms of the underlying chronic disease mask the signs of amyloid deposits (as in secondary amyloidosis).
Upon physical examination, amyloidosis should be suspected in the presence of any combination of the signs and symptoms listed to the left or when there is:
Slow onset of unexplained protein in the urine
Unexplained kidney failure
Enlarged liver or spleen
Malabsorption of food
Nerve damage
Unexplained congestive heart failure
What tests are performed to confirm the amyloidosis diagnosis?
Blood testsThe results of blood tests can also indicate amyloidosis.
A high platelet count occurs in 5 to 10% of people with amyloidosis and may be a clue to the diagnosis.
Levels of serum alkaline phosphatase (an enzyme in the bone and the liver) may increase and occurs in about 25% of the patients with amyloidosis.
A low hemoglobin level (anemia) is not a prominent feature of amyloidosis but may occur due to kidney dysfunction, multiple myeloma or stomach bleeding. Low blood protein levels could occur because of a loss of protein through the urine and could result in increased cholesterol and triglyceride levels.
ElectrocardiogramAn electrocardiogram (EKG) is a test that detects and records the flow of electrical impulses throughout the heart. When an EKG is performed on a person with amyloidosis, low voltage and false signs of heart attack may appear.
BiopsyA biopsy, which can detect the presence of amyloids in tissues or organs, is necessary to confirm the diagnosis. The most common biopsy sites include abdominal fat, rectum, gums and bone marrow. Biopsies of the kidneys, nerves, heart or liver are sometimes performed to confirm the diagnosis.
How is amyloidosis treated?There is no known cure for amyloidosis, and no treatment has been found effective in reversing the deposits of amyloids. However, there are treatments that can slow the progression of amyloidosis and reduce its harmful effects on certain organs.
Because each type of amyloidosis is different, the treatment will be tailored to each individual. The treatment will depend on several factors, including the organs or tissues that are affected; the severity of symptoms; and the person's age, overall health and medical history.
In secondary amyloidosis, treatment is aimed at relieving the underlying disease. People with renal amyloidosis may be candidates for kidney dialysis or transplantation. Localized amyloid tumors can be surgically removed, generally without recurrence.
Treatment with chemotherapy that is known to be effective against multiple myeloma and other related diseases has been attempted. More recently, therapy with high dose steroids and alpha-interferons appear to be showing promising results and is currently under investigation. Treatment with cochicine (a drug used to treat some forms of arthritis and cancer) has shown to slow the progression of amyloidosis.
Preliminary research shows that high dose chemotherapy followed by bone marrow transplantation may be an effective treatment. However, further investigation is needed.
What is the outlook?Amyloidosis is chronic and usually progresses slowly over a number of years. The severity of the disease depends on which organs are affected by the amyloid deposits. Amyloidosis can be potentially life-threatening when the kidneys and heart are affected.
Early diagnosis is the key to managing the disease before it becomes fatal. The outlook for people with primary amyloidosis has improved due to earlier diagnosis, improved supportive care, and advances in medical management of the disease.

Boston Medical Amyloid Center

Chris is undergoing treatment at the Boston Medical Amyloid Treatment and Research Center. This is one of two centers in the country that have dedicated Amyloid programs ( the other being the May0 Clinic in Rochester, MN). The link to the program overview and a great deal of information about the people, treatments, and research are available at this site: http://www.bu.edu/amyloid/index.shtml

There are many sites on the web that describe the disease, the treatments, the research, etc. With great urgency, we did extensive research on Amyloid programs and are convinced that this program is the best in the world. It is amazing that it is just 20 miles from our home in Holliston.

Chris' Journey to Health - Amyloidosis Blog

Tuesday, January 27, 2009