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.
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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.

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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!?
A li'l meme I made (probably historically inaccurate)
usher genetics
spoilers for the fall of the house of usher below
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
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

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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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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
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. Â 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?