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.