Dr. Sharlin Responds: CADASIL

 In Functional Medicine, General Health & Wellness, Thoughts & Ideas

CADASIL (“Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19. The disease belongs to a family of disorders called the Leukodystrophies….No specific treatment is available.”

Wikipedia entry 

Dear Dr. Sharlin,

My husband has been diagnosed with CADASIL. I can’t seem to find out the life expectancy with this disease.  Also, is there anything he could take (supplements) that might help? They say there is no treatment or cure. I’m devastated! 

Dear Beth,

Neurologist Dr. Ken SharlinFirst I am very sorry to hear what you and your husband are going through.  There is no way that I can answer your question directly.  I would like, however, to leave you with a couple of thoughts.  The “A” and “D” of CADASIL stand for autosomal dominant.  This suggests a pattern of Mendelian genetics that basically says your genes are your destiny.  If you have an autosomal dominant trait, whatever that trait codes for, it is going to happen no matter what–at least that is the idea.  However, I would encourage you to learn as much as you can about epigenetics.  Epigenetics refers to how various factors change the expression of genes without actually changing the genes themselves.  Epigenetics is hard science, and some of it is very technical.  But we see epigenetics all the time around us in nature.  Take two identical twins, for example, who have exactly the same genes.  Yet as they grow older their lives often diverge.  They may look different (obese or thin, skin quality, hair quality, wrinkles or youthfulness) and they may be affected by different disease processes.  So, master this idea and realize that in the interplay of nature and nurture that nurture plays a huge role.  Then, learn as much as you can about functional medicine and find a functional medicine practitioner that has a practice near you.  Here is a free two-hour course were you can learn the basics.  Because, in the end, when you ask the question of life expectancy we can use the analogy of a car going 60 miles an hour on a highway.  If the car drives 60 miles at that speed on a predictable road you know the time it takes to get to the destination is one hour.  Your job will be to help your husband change his trajectory.  He may have been born with the tendency to develop the disease CADASIL, but he did not have the disease when he was born.  So, life itself presents itself with a variety of epigenetic pressures that ultimately switch on the processes that lead him down the road to the disease.  Find the detours.  Gently hit the brakes.  Choose the scenic route (figuratively speaking).  Take an unexpected right hand turn.  Because then you will have changed the trajectory of the vehicle, and 60 minutes of driving will no longer take you to the same destination in the same amount of time.  I hope this makes sense.  There is no magic pill, nor magic supplement.  But there are things that can be changed.   

To find a functional medicine provider near you check out the Institute for Functional Medicine database. 

Best wishes, 

Dr. Sharlin

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Showing 3 comments
  • Maree Armstrong

    “He may have been born with the tendency to develop the disease CADASIL, but he did not have the disease when he was born.” This being an hereditary disease how can you say he did not have the disease when he was born. It was already in his genes. He might not have had the effects back then, or did he? Perhaps memory problems were already an issue from time of birth. Like I believe was the case with myself and also my daughter who was not good as far as comprehension is concerned. Myself, I did well on assignments but could not perform well in tests.

  • Dr. Sharlin,
    I just read your response to a woman that wrote to you about her husband being diagnosed with CADASIL.
    I can only say I wish there were many more doctors like you. You have pointed out to her that life is what you
    make it to be. We can only speculate what challenges await us but in the journey we need to absorb all that
    is right in our lives and the beauty this world can provide for us each day.
    I can see that you are a compassionate doctor and I thank you for your well thought out answer.

    We too have CADASIL in our family but after diagnosis we are working to advocate for its patients and promote
    for more research in the medical field. To see what is being done, go to http://www.cureCADASIL.org

  • Barbara Hunt

    Dr. Sharlin will be added to cureCADASIL.org doctors directory. As co-founder of cureCADASIL I am curious if you have diagnosed many CADASIL patient?

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