Category: Practical Medicine

Medicine is Art

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(2019)

Medicine is art, not science.

Science looks for patterns and theories to generalize about what may happen.

Medicine is the art of applying theories to a specific patient, monitoring closely, and making adjustments to treatment. It requires practitioners to be open to outcomes that aren’t described in textbooks and journals.

We educate doctors as researchers and scientists, and then tell them to go care for people.

Patients with Huntington Disease are primarily seen by neurologists. The neurologist’s primary concern is doing research to find a cure – sexy gene modification technology and the like. Not in identifying and mitigating the multi-system symptoms that actually make life with this disease difficult.

Don’t get me wrong, science is great. It’s just not medicine.

Medical Gaslighting

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2020

About a year before my Huntington’s Disease diagnosis, I was told I was ‘just depressed’ by a neurologist. I was having perceptible changes in my cognition and coordination. She didn’t believe me when I said I wasn’t depressed. She said the cognitive test results were due to depression.

Several years ago a doctor wrote “conversion disorder?” in my chart when I complained about neurological symptoms consistent with Meniere’s. 10 years before my daughter was diagnosed with it.

Other Medical Gaslighting

I was prescribed antidepressants for back pain from a ruptured disk in my spine.

Appendicitis didn’t ‘sound serious enough’ to come in. I found another doc who sent me to the ER. After spending 7 hours in the ER waiting room, even with the referral… it didn’t look serious enough.

1/3 of my hamstring and all of another tendon ruptured from the bones where they attach in my hip.
5 orthopedists and 3 rounds of physical therapy and the result was “you’ll have to live with the pain,” for 6 years. Until I insisted on an MRI.

My heart rate couldn’t have anything to do with HD, a neurologist said. Cardiac issues are one of the major causes the death HD patients and >25% are bradycardic.

Arthritis that ‘couldn’t have anything to do with the HD’, another neurologist said. There’s at least one genetic link.

Oh, and Covid-19… I couldn’t get a test because this county wasn’t taking it seriously back in March. I’m now donating plasma because I have antibodies.

Is It Just Me? (Nope.)

What was I doing to make these people think I am faking? Or a hypochondriac? Or anxious or depressed when I told them straight out that I wasn’t?

If I let my mind wander, I do run-throughs of doctor visits. I assume I won’t be taken seriously or believed. I create lists and run through dialogues in my head. The thought of seeing another doctor stresses me out.

I expect the knowledge a doc has (and I pay for) to be equal to or better than my google searches.

Rare Diseases Or Not, You May Be Told Nothing is Wrong

“The length of time from symptom onset to an accurate diagnosis is around 4.8 years for a rare disease. Patients see an average of 7.3 physicians before a diagnosis is made.”

But it’s not just rare diseases: the tendon and disk ruptures were easy enough to see via MRI. Yet I wasn’t taken seriously enough to get imaging done until I returned and asked for it.

Doctors Aren’t Corrected

“I was surprised to realize just how little feedback doctors receive on their diagnostic errors. …A woman with an autoimmune disease may go to four different doctors, and the doctors who didn’t properly diagnose her may just see her as a stressed woman and don’t get the memo down the road when she’s properly diagnosed. It becomes a self-perpetuating problem that feeds into the stereotype that women are just stressed-out hypochondriacs.” –Vice, How Doctors Gaslight Women..

There’s no system in place to correct a bad diagnosis. I felt so traumatized that I wrote them letters and told them what the correct diagnosis was. I got zero replies.

I’ll keep trying. And if you’re not being diagnosed correctly, know you’re not alone. And once you get the answer, tell the other doctors.

See something? Say something. That way, they know it’s not just you. Or me.

Gaps in Care of HD

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There’s More To Huntington Disease Than Neurological Symptoms

2019

Last visit to the neurologist, mom saw 8 different people in 25 minutes.
The nurse collected the vitals.
The neuro’s assistant went through an annual questionnaire, extending vitals.
The nutritionist gave nutrition advice without asking what mom eats.
The social worker gave us a card and said she could be contacted for things like getting medical insurance, making doctor appointments.
The physio had her walk and do a couple of cognitive tests. No one asks: Do you exercise? In what way and how much?
The psychologist asked a standard battery of yes/no questions. Do you have suicidal thoughts? Depression?
The speech therapist asked another set of yes/no questions.
The neurologist gave the standard UHDRS tests.

In an office on the other side of the country, my exams are exactly the same. I am asked the same questions, tested in the same way (though I only see the neurologist).

The UHDRS is an annual test that measures HD symptoms that fluctuate hourly.
Patients aren’t asked: are you having a good day or a bad day in relation to your symptoms? Are they worse in particular times of the day?
The tests measure symptoms at a super low baseline. In 2017, I didn’t fall down when pushed and could walk a straight line. Same in 2018. But there were changes in my balance and coordination, undocumented by this standardized battery of tests.

It’s assumed that the checklists are both relevant and comprehensive.
There are lots of yes/no questions that ignore subtlety. Without defining ‘difficulty’ the speech therapist asks, “do you have difficulty swallowing?” Mom says no, because she can swallow. Though she aspirates food or water several times a day.
We aren’t asked to give perceptions of the disease progression or new or bothersome symptoms. The physio didn’t notice mom’s knee problems (due to pronation due to flat feet, all new).

We are given no comparative data or results.
I don’t know what the data is used for. We are given updated prescriptions, if needed. But the tests aren’t explained and we get no feedback on progress.

The lack of information – on the part of medical providers – about non-neurological HD symptoms and how best to care for them leads to a gap in care.

Symptoms that are related to the disease can and are overlooked.
The neurologist is considered to be the specialist managing the HD in toto. The GP is not familiar with the illness, much less the symptoms.
The specialist is only concerned with what’s going on with the neurodegenerative part of the disease.
In my family, symptoms like a super low heart rate, weird insulin response, sudden change cholesterol were all written off as unknown etiology and unrelated to Huntington’s Disease. Musculoskeletal problems blamed on chorea though they appeared a decade before it.

Huntington’s Disease is a Multi-system Disorder

OK, here are a bunch of references, linked.

Even the Merck Manual HD entry describes it as a neurologic disorder, without any mention of other potential system involvement.

The Exact Function of the Huntingtin Protein Is Unknown
Since we don’t know what the role of the normal Huntingtin protein is, we can’t know how the mutant protein affects other organ systems. HD affects bone density, muscle loss, cholesterol in ways we don’t understand.

Diabetes: HD affects insulin and metabolism, and increases the risk of diabetes.

Aberrant cardiac conduction: In one study, 28% of early stage HD patients had bradycardia. This is especially important, as 20-30% of HD deaths are due to cardiac problems.

Muscles and bone density are affected. Cholesterol, too. I suspect that the chronic enthesopathies are very much related, but there isn’t any research into connective tissues and HD. Yet.

What To Do?

So what’s the conclusion? Find other specialists and convince them of the connection? That’s my first instinct, and it’s the path I’m on. Though since cognitive deficit is another symptom of HD, that’s not an option for a lot of patients.