RFI: Seeking an Accurate Medical Diagnosis

[Chance]

I'm presuming that the wounds are after they evacuated the hematomas and not spontaneous, non healing wounds?

Correct - those are surgical incisions made to drain her arm. She still doesn't heal correctly though, but I don't know anywhere near enough to provide insight into how exactly she doesn't heal normally.

I'm going to start leaning on her to consider relocating to a tier-one facility. Are there any special logistics in doing that, or do you basically just make an appointment and show up?

[Sigfan26]

Mayo Clinic is a really good place. My Dad’s Neuroendocrine cancer diagnosis was discovered there. They are also very accommodating to both patients and their families (hotels in the area run shuttles to the hospital and back and generally give rates to patients and their families). I actually liked being in Rochester (aside from draconian laws on alcohol).


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[Qaz98]

Correct - those are surgical incisions made to drain her arm. She still doesn't heal correctly though, but I don't know anywhere near enough to provide insight into how exactly she doesn't heal normally.

I'm going to start leaning on her to consider relocating to a tier-one facility. Are there any special logistics in doing that, or do you basically just make an appointment and show up?

Non-healing wounds are most commonly from inadequate perfusion, such as atherosclerosis. I do not think, however, that it's the cause for your cousin, as she is too young, and peripheral vacsular disease is typically seen in diabetics, older age, smokers. So some type of collagen defect may make sense. That would be on top of her coagulopathic state. I'm not trying to make a diagnosis, but literally thinking out load.

In terms of a referral to another facility - it definitely would help if the UT people would contact someone on her behalf, though they may not know where to send her. She can always ask them "I think I want to go to Mayo Clinic and see Dr. Jones. Can you contact him for me and discuss my case?" Doing some Google Fu and looking up hematologist, Mayo clinic, and browsing the physician profiles for clinical interests would help. Start the process of obtaining all of her medical records so she can have them for review.

I'm not going to scare you on the whole "whether insurance will cover it or not." Honestly, probably not. I know money shouldn't be your primary focus, but the issue will come up, and so it's also worth exploring each potential facilities financial options for patients.

[RevolverRob]

I just looked up gray platelet syndrome and it is recognized as a hematological disease in the same class as myelofibrosis. Myelofibrosis is the bone cancer my father has, his hematologist is at UT Southwestern and specializes in myelofibrosis-class diseases. I'll get the name for you and PM you tomorrow.

FYI, according to the great source of Wikipedia - there is a potential genetic marker for GPS - the NBEAL2 marker. - https://www.ncbi.nlm.nih.gov/pubmed/21765413 - Genomic DNA sequencing should reveal the mutation. If it is present, it helps support a diagnosis of GPS. Not present means jack and shit, unfortunately.

I'm not sure RNA-Seq of the tissues surrounding wounds would help, but RNA-Seq of platelets may reveal abnormal transcription and other issues. Downside, to get adequate platelet counts they may have to do a spinal tap.

FYI; with myelofibrosis, my father bruises and cuts easily and heals poorly.

[Paul D]

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.

A self-directed internet exploration is more likely to cause more harm than good.

I agree with this 100%. Those type of institutions will be able to go over the data already collected; have the availability of the finest medical minds and experience on tap to interpret the data and give a good second look and plan. I would stay away from the internet as your primary compass to lead you a good strategy. Sometimes you hear stories of regular folks solving medical mysteries on their own. Sometimes folks win the Powerball. Just like online info on love, money, politics and guns, it is full of misinformation. I go to forums like P-F to be a good informed consumer. However, when I need my gun fixed/customized or need to improve my shooting skills, I go to a professional.

[schüler]

...
The one point I don't disagree with, but would say gives me pause is the idea that you start your medical care with an eye towards litigation. If your plan is to record every doctor, because you future malpractice suit may hinge on it, you may not be looking at this with the correct lens. I'm not saying that malpractice doesn't exist, nor am I saying that a recording would help you in a malpractice suit, I'm just saying I think you are putting the cart way before the horse.

I understand that concern and perspective. My recommendation to legally record conversations comes from an experience I did not expect.

I do not expect people to take my word for what happened. I would just say that it is one thing for a good faith act to fail or cause more harm. It is another when base elements of human nature are involved in causing more harm.

Document what you can, people. At the least you have audio notes to backup handwritten notes.

[YVK]

I can add very little to a very good advice of going to one of top centers in the country. Given that this is a rare condition, I'd do a PubMed search and see where publications are coming from. Occasionally, you come across of somebody who takes up researching and caring for a specific condition as a career path, and they may be located in places other than Mayo or Cleveland. Since this is a hematology issue, I'd literally call all top hem onc places like MD Anderson, Sloan Kettering and Dana Farber and ask if anyone is treating those patients.
As far as logistics, first of course is insurance approval. Usually if condition is rare enough and there is no local expertise, insurances do approve out of state care. If any of top places have research trials, they might cover a lot of cost under the research protocols.

[Chance]

I'm not going to scare you on the whole "whether insurance will cover it or not." Honestly, probably not.

She's spent so much time in the hospital these past few years, I've been scared to ask where the money is coming from. She's been in the hospital for about six weeks this time around and is having procedures to extend the incisions about every four days, so I'm hoping the insurance company would be happy to try something else. Who knows: we'll deal with that when we have to.

Myelofibrosis is the bone cancer my father has, his hematologist is at UT Southwestern and specializes in myelofibrosis-class diseases. I'll get the name for you and PM you tomorrow.

Cool. One of her physicians is strongly suspecting gray platelet, so that hematologist might be an awesome resource.

[Peally]

Best of luck, that's a pretty shitty situation.

[Sensei]

I just looked up gray platelet syndrome and it is recognized as a hematological disease in the same class as myelofibrosis. Myelofibrosis is the bone cancer my father has, his hematologist is at UT Southwestern and specializes in myelofibrosis-class diseases. I'll get the name for you and PM you tomorrow.

FYI, according to the great source of Wikipedia - there is a potential genetic marker for GPS - the NBEAL2 marker. - https://www.ncbi.nlm.nih.gov/pubmed/21765413 - Genomic DNA sequencing should reveal the mutation. If it is present, it helps support a diagnosis of GPS. Not present means jack and shit, unfortunately.

I'm not sure RNA-Seq of the tissues surrounding wounds would help, but RNA-Seq of platelets may reveal abnormal transcription and other issues. Downside, to get adequate platelet counts they may have to do a spinal tap.

FYI; with myelofibrosis, my father bruises and cuts easily and heals poorly.

Platelets do have relatively small amounts of various RNA (pre-mRNA, mRNA, rRNA, microRNA, etc.), but are anucleated and therefore transcriptionally inactive except for mitochondria-derived transcripts. Platelet precursors known as megakaryocytes are where RNA-seq analysis is most useful at unraveling transcriptional disorders of thrombopoiesis, and it gives insights to both genetically and environmentally induced alterations in function. For this, you need a bone marrow biopsy.

Moreover, a spinal tap is a method of harvesting cerebrospinal fluid, not platelets; there are no platelets in CSF.

I suggest that we should all be very careful with suggestions of diagnostic strategies unless you are board certified in the speciality.