Many of you may already be aware that Mickie has a RARE Disease called Koolen-De Vries Syndrome.  Tomorrow happens to be Koolen-De Vries Awareness Day.  So in honor of Mickie and all of the other “Kool Kids”, I thought I would do another ‘Did You Know?’ post on Koolen-De Vries Syndrome (KDVS).

Did you know that 1 in 16,000 people are born with Koolen-De Vries?  It is considered a RARE Disease.  There are only approximately 20,000 individuals with KDVS.  According to the National Institute of Health (NIH) underlying cause is often not identified in individuals with intellectual disabilities therefore for it is most likely underdiagnosed.  This is because developmental disabilities, epilepsy and other similar disorders are more visible and can be diagnosed without genetic testing.

Here are 10 facts about Koolen-De Vries Syndrome that you may not have known.

Did you know…

10) that half of the individuals diagnosed with KDVS has recurrent seizures.  Mickie’s epilepsy is a result of her KDVS.

9) individuals with KDVS are described as friendly, joyful and cooperative.

8) that most individuals with KDVS have very distinctive facial characteristics, such as a broad forehead, droopy eyelids, narrow eyes, a bulbous nose and prominent ears.

7) heart defects, cardiac abnormalities, kidney problems and skeletal deformities are common amongst individuals with KDVS.

6) that KDVS is characterized by developmental delay and mild to moderate intellectual disability similar to Asperger’s and other spectrum disorders.

5) that KDVS is a microdeletion on Chromosome 17.

4) that it is pronounced Cool EN De Freeze.

3) care and education for individuals with KDVS differs from child to child.  Some children are mainstream and others need a special needs classroom.

2) Speech is often delayed.  So are motor skills.  A common characteristic is low muscle tone.  Babies are said to be droopy.

1) Young babies have difficulty feeding and often need to have feeding tube placed.

I hope that you learned a little more about Koolen-De Vries Syndrome.

I know that you are all anxiously waiting for LTM Part Two.  I promise it is coming tomorrow.  We arrived home late last night and today was kind of crazy around here.  The day just got a way from me.  Please check back tomorrow for LTM Part Two.


Mrs. Griess

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