Patient Stories

My son was diagnosed w/ 2q11.2-2q12 duplication involving NPAS2, RPL31, MAP4K4, IL1R2, IL1R1.

Posted In: Rare Disases Anonymous | November 11, 2018 | 03:43 AM

We are at a 6-9 month wait to find out more about this, and I feel like I am losing my patience. Here is the medical jargon: Chromosome 2 has a copy number gain in the long arm at band 2q11.2q12.1. The size of the duplication is 1.46 Mb based on the gain of 38 oligonucleotide probe(s). The OMIM Genes involved are (5 total) NPAS2, RPL31, MAP4K4, IL1R2, IL1R1.  This finding is of Unclear Clinical Significance. 

Unclear is massive foreshadowing for how I feel about this. He also has this diagnosis: Autism spectrum disorder, speech sound disorder, ADHD, developmental coordination disorder, learning disorders in reading, writing,  & math, and neurodevelopmental disorder from possible anoxic/ischemic brain injury. None of it seems to help me to know if his cognitive decline will continue. If his outlook is good. I know he will likely never be able to live independently, but his quality of life is my greatest concern.

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