RFI: Seeking an Accurate Medical Diagnosis

[David S.]

Damn. That looks miserable.

My thoughts and prayers go out to her.

[McD]

She's in the Dallas area, so would UT Southwestern be a viable option?

Took the words out of my keyboard. I would work every angle imaginable to see someone at UTSW.

[RevolverRob]

In Texas, the best hematologists will be in Houston. My brother-in-laws mother had an extremely rare blood disorder. It still took them months to identify it there and she unfortunately passed only a few weeks after diagnosis.

It's time to get a blood work panel to the best hematologists - in the country, Mayo would be my choice.

[Rex G]

I asked my wife to look at this thread. She mentioned several things:

1. M.D. Anderson Cancer Center in Houston may, indeed, be a place to inquire. My wife favors this hospital for anything that falls within their capabilities.

2. Occasionally, a disorder, that is thought to be a rare disease, is actually an unusual symptom of an amazingly common/mundane organism, such as E. coli, presenting itself in a highly unusual manner. She recited a case of a totally baffling, persistent ankle pain that was treated with a prophylactic dose of tetracycline, and the pain went away, never to return.

3. This condition may require stem cell therapy, or gene therapy. (I understood this to mean experimental therapy.)

Disclaimer: My wife obtained her M.D. in Eastern Europe. Due to a shifting Cold War situation, she returned to the USA immediately after graduation, and never tested for a medical license in the USA. She did work two successive jobs in the medical field, which did not require a medical license.

[Totem Polar]

Her PCP should refer her to a larger referral center such as Harvard, Hopkins, Mayo, Duke, the Cleveland Clinic, etc. She should then stay in that system for her care instead of bouncing around between systems. Yes, this may mean moving to a new city.

I am no medical pro, but I *have* seen befuddlement replaced by almost instant accurate diagnosis by transferring from a regional to a place like Mayo, and I’ve seen it 3 different times in my life.

[pangloss]

I'm not a physician, so don't put too much stock in anything I say. However, I am biomedical scientist, so I'm generally more of an "informed consumer" when it comes to health care than the average person. Here's what I would do and my reasoning.

1. I would follow the advice about seeking out the very best care in your region of the country.

2a. I would get a list of all the dermatopathology fellowship programs in the country and make contact with faculty members at some of those institutions. When I looked at the pictures, I didn't think "why does she bleed?" I thought "why doesn't her skin hold together?" I don't know much about skin, but I wonder if there's not some mutation in one of her keratin or collagen genes. I would read more about the molecules involved in maintaining the structural integrity of the skin. It could be something besides keratin and collagen, but that's where my mind went first. (I tried to get a list of fellowship programs this afternoon, but the page didn't exist. The page did give an e-mail address that I can message to you if you want it.) EDIT: LINK to dermatopathology fellowship programs.

2b. I would comb the academic literature (via PubMed) and e-mail people who have expertise in skin biology and specifically keratin and/or collagen mutations (or experts in whatever governs the mechanical strength of skin). This line of thought could be barking up the wrong tree, but there's no downside to sending the e-mails aside from losing a few hours of time. Worst case scenario is that people never write you back. (If you like, I can look up and suggest some names tomorrow. I don't know anyone with expertise in this field, but I do have a very high degree of facility with PubMed.) Presumably, some of the names that come up here in 2b would also appear in 2a. I'd figure on initially contacting people at ~20 different institutions around the world. There's no reason not to cast a wide net.

3a. As a hedge against the keratin/collagen hypothesis, I would look into getting my genome sequenced. The price of sequencing has dropped significantly over the last decade and paying to have one's own genome sequenced is a realistic consideration given the circumstances. Analyzing that sequence information is more difficult, and there is no guarantee that any actionable information could be derived from the sequence. However, I would expect that any of the leading academic medical centers in the country should be able help out with sequence analysis. I would also check back with the people at NIH about this possibility.

3b. An alternative and possibly better option compared to whole genome sequencing would be "RNA seq analysis" of skin/dermis/epidermis/etc. I don't know the different parts of "skin" but this point circles back to reading more about skin biology. Actually, I think I'd really push for this, at least based on the pictures.

That's all that comes to mind right now, and all of it could be completely wrong. However, if we were talking about my daughter, I'd get through a good portion of 2a and 2b tomorrow.

[Sigfan26]

Ask one of the doctors where they would send their loved one if this was happening to them.


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[LittleLebowski]

There’s some SMEs posting in here. Thanks, guys.

[Qaz98]

I'm presuming that the wounds are after they evacuated the hematomas and not spontaneous, non healing wounds? Although, that doesn't make sense to me why she would have poor wound healing like that, unless there was also a collagen defect associated with her condition. Definitely +1 on Mayo or Hopkins. Be mindful, that Mayo and Cleveland Clinic have affiliations with regional hospitals/systems, but you want to go to the motherships in Rochester, MN or Baltimore, MD. There's also a private physician's dads group, and I can see if anyone knows a referral for Gray Platelet Syndrome. Even if it's not the correct diagnosis, being in the ballpark can often steer the team in the right direction.

[pangloss]

I'm presuming that the wounds are after they evacuated the hematomas and not spontaneous, non healing wounds? Although, that doesn't make sense to me why she would have poor wound healing like that, unless there was also a collagen defect associated with her condition. Definitely +1 on Mayo or Hopkins. Be mindful, that Mayo and Cleveland Clinic have affiliations with regional hospitals/systems, but you want to go to the motherships in Rochester, MN or Baltimore, MD. There's also a private physician's dads group, and I can see if anyone knows a referral for Gray Platelet Syndrome. Even if it's not the correct diagnosis, being in the ballpark can often steer the team in the right direction.

I need to read more carefully...

EDIT: So after re-reading, has there been any discussion of a bone marrow transplant? If this really is a hematology problem and not something to do with the structural integrity of the skin, it seems to me that a bone marrow transplant would be the way to go.