Wednesday, October 24, 2012

June 15, 2010 - Boston Evaluation Results

So it's Tuesday afternoon and Mom has had all of her tests and doctor visits in Boston. She's about to have her last appointment, where we are expecting to finally get a diagnosis on what she has and what should be done about it. I think we ended up being the last people left in the waiting room.

We were finally called back and met with Dr. Skinner, whose title at the time was, I believe, Special Projects Director. Dr. Skinner was a very nice, soft-spoken woman who explained things very well in layman's terms. She started off by going over Mom's lab results and the test results they had so far, making notes on Mom's copy of this interim report. As I recall, she specifically went over any numbers that were outside of the normal range. Looking back over that report today, some items that stand out (in retrospect) are:

  • Creatinine was 1.98  (Normal range is 0.5 - 1.1) 
  • GFR was 25  (Normal range is >60)
  • In the section for "Complete Blood Count," HGB (hemoglobin) was 10.5.
  • Also in the "Complete Blood Count" section, HCT (hematocrit) was 29.9.  (Normal is 38 to 47) Next to that Dr. Skinner wrote "may need Epogen to keep level 30-30."
  • As the nephrologist had mentioned, the kappa and lambda numbers, and the ratio, were well within the normal range.

Then Dr. Skinner started asking Mom some family history questions such as country of origin and how her parents, grandparents, aunts and uncles had died. After the family history was taken, Dr. Skinner flipped over Mom's interim report and started making notes on the back as she walked us through both a lesson in amyloidosis and the current status of Mom's diagnosis. Here is a scan of that page of Dr. Skinner's notes, followed by my transcription since some of it is hard to read, even in its original size.

Dr. Skinner Notes
Dr. Skinner's notes from our discussion on June 15, 2010


We know you have amyloid in kidney - - - ? 2 years
We know you have significant kidney impairment.
We know you have no suspicious family history.

Amyloid types

AL - Most common - problem in bone marrow - you don't have
AA - Second most common - in persons with severe inflammation/infection  --  doubt this type

Familial types

ATTR - Most common familial  --  doubt this type
  • Rarely affects kidneys
  • Causes neuropathy, cardiomyopathy
Rare familial types  --  All four of these are possibilities
  • Apolipoprotein A1
  • Apolipoprotein A2
  • Fibrinogen
  • Lysozome


  • Lec II  --  brand new  --  affects kidneys  --  most people with this have been Hispanic

  • Check fat pad biopsy  --  Try to identify amyloid type, if possible.
  • Check all your genes of rare familial types

In case you can't see it in the scan of the notes, Dr. Skinner drew a block diagram here explaining how each child has a 50-50 chance of inheriting this type of mutated gene when only one parent has the mutated gene.

What to do

Protect kidneys

  1. Watch BP (keep it normal).
  2. Don't get dehydrated.
  3. Don't take any medication without nephrologist approval.
  4. Watch blood sugar. Keep weight down to prevent onset of diabetes.

So there you have it. In summary, they have ruled out AL amyloidosis (primary), which is what about 85% of the Boston amyloidosis patients have. And they have all but ruled out AA amyloidosis (secondary). They're leaning toward familial amyloidosis (hereditary), but not the most common form of familial, ATTR, due to the symptoms she is having. The way we left things that afternoon was that we would have a phone call with Dr. Skinner on Friday after we get back home, all of the Boston test results are in, and the Boston team has had a chance to confer.

On the one hand it was disappointing to once again come away without a definite answer regarding what Mom has, but at least we had a better understanding of why and we felt very confident that we were in the right place to find out.

The next morning I sent an email to my sisters explaining the situation and that it might be a familial type of amyloidosis. Then the four of us (Mom, Cathy, Pat and I) went on a harbor cruise in the morning, followed by a hop on, hop off bus tour of Boston that afternoon. Thursday we drove back to Newark and flew home, looking forward to the Friday phone call with Dr. Skinner.

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