A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Friday, February 15, 2013

Rare Disease 15 - Jeune's Syndrome

From About.com (Wikipedia didn't have anything):

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is an inherited form of dwarfism which produces short limbs, a small chest, and kidney problems. It is estimated to occur in 1 per 100,000-130,000 live births, and affects people of all ethnic backgrounds.
Individuals with Jeune syndrome have some physical characteristics in common:
  • A long, narrow, and abnormally small chest with reduced lung capacity
  • Short arms and legs compared to trunk and overall small stature (short- limbed dwarfism)
  • Kidney lesions which may lead to kidney failure
Other symptoms which individuals with Jeune syndrome may have are:
  • Intestinal malabsorption
  • Retinal degeneration
  • Liver problems
  • Heart and circulatory problems 


When I started writing this series, I had several people contact me to have their rare disease featured.  One such family is the Mollica's.  Their son Joseph has Jeune's Syndrome.  They have a public Caring Bridge page here.

Another mother (who I found through an Internet search) has started a blog about her son Will and their life with Jeune's Syndrome.  If you click here you can read the "short version" and see a video.


Jeune's Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.


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