Rare Diagnosis For CADASIL Saves Janet’s Life


In the years, and especially the months, leading up to my diagnosis with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), I was in a very dark place. I worried that I must be going insane because my doctors did not know what was wrong with me. I sometimes felt like a hypochondriac with the list of symptoms I repeated in the hopes that they would trigger an “Aha!” with my doctors. Yet I knew there was something very wrong, and I was pretty certain it had to do with my brain.

During this scary and dark time, I thought of ways I could die and not have anyone think I had intended it. I did not want to be a burden to my family or friends, so I did not feel I was being selfish for wishing my own demise. In fact, I believed I would be doing everyone who cared about me a favor. I wanted to make my death look like an accident, so no one besides trained emergency personnel would find me. The morning I started to drive off a steep embankment on my way to work, at a place I had carefully chosen for its “success factor,” I was committed to following through. At the last moment, I pulled my car back onto the road, with gravel from the shoulder spitting from my tires. I could not do it, and I was so disappointed in myself.

Fast forward many months and many tests later, and my husband and I received the news in a doctor’s office that my genetic blood test for CADASIL had come back positive. Although having a rare disease like CADASIL is frightening, I mark my diagnosis date as the day I received answers for the mystery of what was happening to me. There were valid reasons I felt the way I did. I now had proof that it was not due to a weakness in my character. I chose to live. Many people say “Each day is a gift.” For me that rings so true. Each day for me is one more day than I had once planned to be here. I thank God for my diagnosis.

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Global Genes Comments

  1. Farid zakikhani says:

    Hi I read your note and just to say I was in your place at one point in time and now I have gotten used to it
    I take l- arginine and I have no longer have migraine
    I have tried hyperbaric chamber treatment and I can say that after 23 treatments I have noticed a big difference in my walking and talking since I have had 3 Tia’s I have slowed in my walking and my speech is affected
    Since we live in a more modern era we have more hope in longevity then to suicide

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