Diagnosis: Champ 1 Gene Mutation

Diagnosis: Champ 1 Gene Mutation

by Esther Bautista 

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Champ 1 Gene mutation is a newly discovered mutation on chromosome 13q34 which causes intellectual disability and severe speech delay among other characteristics. My daughter Bethany was diagnosed 12 years after birth January 2015.  Up until that point we had been through numerous doctor visits with specialists such as: neurologists, genetics, and endocrinologists. She had undergone numerous genetics testing through UCLA and UCSF as well as through her local pediatrician.  And with the help of Julie Jones at Greenwood Genetic Center in South Carolina her Champ1 Gene mutation diagnosis was discovered. 

Now with our diagnosis we are somewhat relieved.  We have a label.  But what we do not have is a lot of information since this is a new genetic mutation.  We do have a parent network online to share information and support in our journey.  So far there are only 30+ Champs world wide.  

I would describe our Champs as on a spectrum like the autism spectrum with varying levels of ability.  Some Champs are diagnosed as autistic, but not all.  My daughter Bethany has autistic tendencies but does not have autism.  She is a very happy girl.  She is 14 years old and attends a special day class.  She loves playing with water, dancing, music, and eating!  Most of the times she has a very happy demeanor.  Very rarely she seems to be sad and she has a brief period in which she will cry.  But as I said these events are extremely rare.  

Bethany is non-verbal and in diapers.  She communicates to me by blinking her eyes.  One blink means yes.  We have yet to get the two blink down for no.  Sometimes she will say: “Momma, uh uh, up.”  But her speech is extremely limited.  A lot of time I am guessing as to what she wants.  She is not advanced enough for adaptive communication devices.  I try to give her choices such as showing her food options for meal times.  

Bethany was 8 years old when she first learned to take independent steps.  She can walk really well today, but has balance issues and can easily get off balance and fall.

Some other characteristics that are common in Champ 1 gene mutation are: microcephaly, hypotonia with motor delay, and facial dysmorphic features, and some seizures.  

Here are some very technical medial articles on Champ 1 Gene Mutation:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564986/

https://ghr.nlm.nih.gov/gene/CHAMP1

Undiagnosed (Short Documentary)

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