Day 3 Return Visit

Wednesday, March 11, 2009

Day 3 Return Visit

We met with the Nephrologist (kidney specialist) today and went through some of the numbers that were available. Based on what she had seen come in, Chris' numbers all look good. She went through a good analysis as to how the amyloid proteins limit the kidney function and how they allow protein to get into the urine. Protein leaving the body is generally bad and an indication of amyloidosis, along with other causes. One of the indicators of protein in the urine is "foamy" urine that is very bubbly. It can also be an early indicator of diabetes so it should always be analyzed if there is foaminess (sorry to be so focused on urine tonight). The other biomarker is the amount of creatinine. Creatinine is the waste by-product of muscles and if too high indicates renal damage. Chris' number is .64 and the normal range is .5 to 1.0. So again this is very good. The doctor also expected that the 24 hour protein number would continue to decrease over time.

What we need is the total package of results which we will not have until next week. The normal procedure is that we get the call on Friday afternoon with the next steps. For this time, we will not hear until Tuesday or Wednesday.

They do want Chris to do another set of blood test (not the doctor visits) and she will do that on April 28th. Then she has her 12 month evaluation at the end of June. What we heard today was that it would not be until the June meeting that they declare what kind of response it was (complete or partial) and what the next steps are. So this is going to be slower than I would like but they need the full year to understand the total affect of the stem cell replant and chemo.

So, as I said yesterday, we are running in the right direction, but we do not know if and when we will cross the complete response finish line.

One thing that is really good is that the Director of the BU Amyloidosis Research Clinic asked us to meet with her in her office. She said that there had been a lot of talk about what our son was doing on his bike ride around the center and she wanted to tell us how amazed they are and supportive they want to be. They have invited Stephen and Aislinn to come and get the "VIP" tour of the center, meet with the doctors, see the labs, etc. I am wondering if maybe they might give a quick presentation to the medical staff on a Friday when they all meet. They will have great pictures and video's (and will get more there) and it would be a great dry-run for their presentation back at Worcester Academy.

So no real news until next week when they call with their final packaged results. We are pleased with the direction but would like to have all the biomarkers at or beyond the target. We are not there yet.

Your donations to the Research Foundation keep coming in. Thanks for all your support, your continued calls to Chris, your prayers and well wishes. We both believe that they are making a huge difference. In the meantime, Aislinn and Stephen march north. They have some great stories to tell, so their blog will be much more interesting for the next few days than mine.

More next week.

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

Wednesday, March 11, 2009