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Member details for leylandjulia

Last updated: 20 Jan 2017
 

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leylandjulia
Family type: Two parent family
Siblings: 1
Disabled siblings: 0
Mar 1996 Female
Relationship: Mother
Conditions: Cardiofaciocutaneous syndrome (14)
Brief summary: Our 20 year old daughter has been recently diagnosed with CFC We would very much like to hear from any families whose child has this condition but particularly any who have a very severe learning disability and complex epilepsy as the main manifestations

Location: North West
Languages spoken: english
Member since: 20 Jan 2017
Full story:
Our daughter Charlotte is 20 years old and through the 100,000 Genome study we have just found out that she has a change in the gene MAP2K1 (formerly MEK1) which is probably the cause of her disability and that she most likely has CFC. However in Charlotte the condition mainly presents itself as complex epilepsy and a severe/profound learning disability with very few other manifestations. We would be particularly interested to hear from families whose family member fits this criteria. Thank you.

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