Josie is almost 5 years old and was born with Joubert Syndrome and CEP290 mutation. Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is a member of an emerging class of diseases called ciliopathies.  Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.

As a result of Joubert syndrome, Josie is blind and has difficulty with low muscle tone, muscle coordination, balance and speech. Yet, she is a happy, healthy little girl. Josie loves to read books and listen to music. And don’t let her difficulty with speech fool you, she can already tell you what letter words start with and count the number of syllables by clapping them out!  She is also very excited to be attending Kindergarten in the fall!

Josie’s Mom, Dad, two older sisters, dog and cat all live in Minnesota.  There, Josie has lots of cousins, aunts, uncles and grandparents who all think she’s amazing!

Hope is in Josie’s genes!

 

1 thought on “Josie is Happy But Left Blind From Joubert Syndrome – A Rare Disease in a Group Called Ciliopathies”

  1. Penny Archer says:

    My granddaughter, Bristol has Jouberts and Meckle- Gruber. She is only 4 months old and so amazing already! Such battles for such beautiful children!

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