Some important days coming up....

Sunday, March 8, 2009

Some important days coming up....

Chris and I go in to Boston tomorrow for three days of tests tomorrow. Effectively, we will learn two things, 1) what is the current status of her amyloidosis (specifically her amyloid protein production) and 2) what the course of treatment will be. For the first question, it could be anything from worsening, to being stable, to improving. Since her response was a 94% reduction back in January, it would be great to see a total response. This would mean no second round of chemo, no further treatment other than continued medicines she is on now. If there has been no improvement, then I am sure she will have to do a second round of chemo this spring.
The process will be the same as before. Three days of tests on her heart, kidney, liver, lungs, etc. then a medical team conference on Friday followed by the famous call to us saying what the prognosis and course of action is. Chris and I are both getting a little nervous and it will hit us hard when we get there in the morning. As I have said many times, we will pray for the best, plan for the worst.

The outpouring of generosity to Stephen's quest to raise awareness and help further the level of research has been absolutely amazing. I do not know hardly any of the details of the contributions as Stephen is keeping this close to the vest, but I can tell you that many many people have been more than generous. Stephen has been amazed at the response. He is keeping a list of all of the donors and will be sending a thank you note upon is return. Everyone has been just incredibly generous in this economy. People have donated signs, shirts, biking equipment, housing, and have even hosted cocktail parties to raise money - just amazing.

I have spoken to a few people who have asked how he is doing. He has finished day two with great progress and many stories already. He and Aislin will have some incredible experiences to share when they get back to Worcester Academy. He does update his blog late every night at
www.chrisjourney.com and he is also sending quick updates during the day form his phone at www.twitter.com/chrisjourney . We can actually track his progress real time using a combination of igoogle and a blackberry. One thing that I have learned from his ride is the value of technology for communication. Between blogs and Twitter and igoogle, it is really easy to stay connected.

Chris and I cannot thank you all enough. The Holliston community, Worcester Academy friends, IBMers, people who have lost loved ones or have suffered themselves, the prayers, the love, the generosity, it is all beyond belief. It is impossible to properly thank you all.

Please continue the prayers for success this week, both for Chris and Stephen.

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

Sunday, March 8, 2009