GeneChat

Cadasil (NOTCH3 Homozygous Mutations)


#1

Anyone else find out they have this rare disease?


#2

An MD Geneticist may be able to clarify if you have it, and if you do, what your options are.


#3

I am sure I have it - But here are all the symptoms of CADASIL that fit with me ++

Agnosia!

Aphasia!

Semantic dementia!

Prosopragnosia!

Weakness of arms and legs!

And weakness, falling on one side of the body (me always on the left)!

Migraines! (and an optician 6 months ago, testing my eyes, said I seem to have migraines all the time, without the pain most people have, just pressure in the eyes and brain)

TIAs, strokes!

Seizures!

And the small blood vessels, that causes these damages!!

White matter damage!

Also can relate to Parkinsonism

I still have not had my 100,000 Genomes Project – since 18 months! But looking up my Notch3 mutations on my exome (sequenced by Genos) I definitely have rs10423702+++, rs1044006+, rs1044009++, rs10422818+, rs1043994+++, rs1043996+, rs1043997+++, rs4809030++ - some are doubles, and some are one variation – and they are always said to relate to CADASIL damage…And there are another 20 mutations I have, that I can tell you too…