Friday, October 26, 2012

June 18, 2010 - Boston Phone Call

On Friday, June 18, 2010 Mom and I had a conference call with Dr. Skinner of the Boston University Amyloidosis Center ( to follow-up on the meeting we had with her in Boston on Tuesday. Luckily I took notes during the phone call and then sent the following email to myself:

Conference call with Mom and Dr. Skinner at BUMC on 6-18-10:

Mom is still a puzzle.

There was no amyloid in her abdominal biopsy.

The bone marrow biopsy was clear.

No abnormal proteins in her blood, ruling out AL amyloidosis.

Her heart is fine.

Kidney – creatinine 1.9

24 hour urine: 2.3 grams of protein

There is no more kidney tissue available for staining.

The next step is gene sequencing for rare familial types. If nothing comes from that, another kidney biopsy may be necessary.

Check back with Dr. Skinner in about a month, although it will probably take longer to complete the gene sequencing.

On the pulmonary function test, the oxygenation is a little low due to smoking, but there is no sign of amyloid in the lungs.

A summary packet from BUMC will possibly be sent late next week to all of mom’s doctors.

That pretty well sums it up. Amyloid has only been found in her kidneys so far, and it's looking like it is one of the rarer familial types. So we get to wait some more while Boston does the genetic testing. The next day I sent this update to the online amyloidosis support group:

I'd like to give the group an update on my mother Linda (from Dallas), who went to Boston for her initial evaluation last week. First, some background:

 - Investigation of proteinuria eventually led to a kidney biopsy in December of 2009.

 - Kidney biopsy showed amyloids in the kidney, but could not definitively state it was primary amyloidosis.
 - Referred to oncologist/hematologist. Bloodwork did not indicate amyloidosis, so oncologist recommended a bone marrow biopsy.
 - Bone marrow biopsy was negative for amyloidosis.

That's when I decided to contact the Boston program and sent her medical records and biopsy slides there, leading to an appointment for an evaluation. So, what did we find out?

 - Bone marrow biopsy done in Boston also came up negative for amyloids.
  - Free light chains are normal. Kappa and lambda numbers are both within the normal range. (1060 / 441)
 - Fat pad biopsy was negative for amyloids.
 - No indication of amyloids in the heart.
 - Significant kidney impairment. A rough estimate of her current kidney function is 30 to 40% of normal. (Creatinine is 1.98, GFR is 25.)

So they have essentially ruled out primary and secondary amyloidosis, and they're leaning toward familial. Dr. Skinner doesn't think it's the most common familial type, ATTR, but she is instead leaning toward one of the more rare familial types. Four possibilities she listed were apolipoprotein A1, apolipoprotein A2, fibrinogen, and lysozyme. (There are many others.) Determining which one it is requires genetic testing, which will likely take a month or more, so they can't put together a treatment plan until they know what they're treating. In the meantime mom needs to work closely with her nephrologist to take care of what kidney function she has left, as the progression going forward is unknown.

It's a bit frustrating coming away from Boston without a clear diagnosis and treatment plan yet, but it's certainly understandable considering that she appears to have a rare variation of a rare type of a rare disease. The positives we came away with were that she has no heart involvement, and more than one doctor in Boston said mom's local doctors had been doing the right things up to this point. I can't say enough good things about the team in Boston, and I can't stress enough the importance of getting an evaluation at one of the centers of excellence, even if it's just to confirm a local diagnosis. As the guest speaker (Dr. B from Mayo) said at the Dallas support group meeting this month, they see patients all the time who have been on chemo for two or three years as a result of a local diagnosis of primary amyloidosis, but the Mayo evaluation shows they actually have familial. That could have been my mother's situation if her oncologist/hematologist, who does see amyloidosis in his practice, had moved forward with a diagnosis of primary earlier this year.

So now we get to wait at least another month before finding out what Mom really has. Let the waiting and thinking begin.

(Here's the link to that video, in case you can't see it:

I'll take Rare Diseases for $200 Alex.

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