#cadasil

[crowsofdreams]

Three separate radiologist think my MRI scans are consistent with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).

So Ive now been referred to a genetics place to discuss genetic testing to see if it is what I have. Another round of waiting for an appointment I guess!?

[crowsofdreams]

Had my genetic blood test done for recently. Just got to await to hear the results of it now. It was absolute chaos, no blood work forms had been done or anything 🙄 Just hope they're able to analyse it all okay.

[foxynovacoda]

A li'l meme I made (probably historically inaccurate)

[nits-wits]

usher genetics

spoilers for the fall of the house of usher below

this might be a symptom of being in medical school but when i realized that to the outside eye and to roderick for a while, verna and all of the supernatural shit is all explained by CADASIL, as the vascular dementia produces hallucinations. for those who don't know CADASIL is a real disease! and it has an autosomal dominant inheritance (cerebral Autosomal Dominant arteriopathy with subcortical Infarcts and leukoencephalopathy). if you don't remember high school genetics, look at this punnet square:

it essentially shows that if a person with the AD disease (Kk - K indicating the diseased allele, k indicating the normal allele) has a child with someone who is unaffected (kk), there's a 50% chance that the child will have the disease.

roderick has CADASIL, as he got it from his mother, and in roderick, it is presenting with what seems to be incredibly vivid horrible hallucinations.

here's the thing though - before they die, all of the usher children ALSO have vivid hallucinations (or rather, verna comes to them) and i was wondering why they are much younger than their dad and presenting with similar symptoms. and then i realized something else was at play. anticipation. in genetics, anticipation occurs when a disease presents earlier and more severely in the following generations. a classic case of this occurs with huntington's disease.

roderick gets it old, but then as he has kids, they get it younger, and lenore, the final generation, has her hallucination as a very young teenager. it took a small literature search to find this case study of a Japanese family with CADASIL that does indeed present with anticipatory genes. it also makes sense that the hallucinations and presentation of all of the children all show up - CADASIL has complete penetrance even if there's clinical variability.

when verna says "let the next generation deal with it", it's not just all of the shit and horror that capitalism and boomers and roderick kick the can down to, but also the very real horror of subjecting children to hallucinations that show their incoming death.

good job @flanaganfilm. this nerd appreciates your commitment to the storytelling.

[lostandfouundd]

CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding these blood vessels (vascular smooth muscle cells) are abnormal and gradually die. In the brain, the resulting blood vessel damage (arteriopathy) can cause migraines, often with visual sensations or auras, or recurrent seizures (epilepsy).

The most common symptoms are:

✔️Recurrent ischemic strokes (transient ischemic attack/stroke) in adulthood that may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. Transient ischemic attacks and stroke are reported in approximately 85% of symptomatic individuals

✔️Progressive cognitive decline with dementia developing in about 75% of affected people including significant difficulty with reasoning and memory

✔️Migraine, usually with aura, as the first symptom in the third decade of life

✔️Psychiatric problems such as mood disturbances (apathy and depression), presenting in about 30% of people with CADASIL

✔️Seizures with epilepsy is present in 10% of affected people and usually presents at middle age

✔️Diffuse white matter lesions and subcortical infarcts on neuroimaging.

Source:

https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy

CADASIL

CADASIL

https://rarediseases.info.nih.gov/diseases/1049/cadasil

A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for CADASIL

[davidrussellschilling]

What are the Chemical Biomarkers for Common Diseases?

What are the Chemical Biomarkers for Common Diseases?

C O N T E N T S: KEY TOPICS Reliable disease biomarkers characterizing and identifying electrohypersensitivity and multiple chemical sensitivity as two etiopathogenic aspects of a unique pathological disorder.(More…) For rare diseases, practical considerations may warrant inclusion 422 of a broader range of disease stage (e.g., severity of manifestations, development of 423 manifestations…

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[healthwithtips]

A Stroke of Bad Luck: CADASIL and Friedrich Nietzsche ’s “Dementia” or Madness

Paul M. Butler Philosophy is its own time raised to the level of thought. G. W. F. Hegel (1821/1991) The early eighteenth-century Prussian philosopher Georg Wilhelm Friedrich Hegel envisaged history as a dynamic, dialectic system—an ineluctable process of unfolding epochs. Reason, seen as the h... A Stroke of Bad Luck: CADASIL and Friedrich Nietzsche ’s “Dementia” or Madness

[maricespieces]

For Papa

What should a daughter do when faced with the mortality of her father?

When confronted with the slow deterioration of his brain, with the white matter devouring the grey like a cataclysmic avalanche, do you shield him from the oncoming onslaught? Do you grasp tightly to him, hoping that somehow this feeble attempt at stasis will stop the inevitable ebb and flow of time?

Soon the contours of your face will fade along with the memories of filling your head with the fairy tales and stories and characters of his youth, of carrying you to sleep, of patting your shoulder gently when you cried. Soon you will be another unidentifiable stranger in a crowd.  Soon he will not even know your name.

Do you allow your heart to break silently, hiding your fear from the man who first taught you how to be brave? Do you whisper a rushed and treasured goodbye to every moment that passes never knowing if this one is the important one, if this is the one to keep with you, if this is the one that will end all endings?

What should a daughter do when her savior can't be saved?