Just another glimpse into my world.

Sister's 2q23.1 chromosome deletion is extremely rare (less than 20 documented cases in the US as of October 2010) and there is no "road map" for expectations. If you google "2q23.1 microdeletion" you get the same 3 articles over and over again.

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, a disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The microdeletion was identified by microarray based comparative genomic hybridization (aCGH). The size of the deletions is variable; the critical region includes a single gene, MBD5. Another gene, EPC2, is deleted in patients who have a broader phenotype than those with a deletion of MBD5 only. *Author: Orphanet (May 2010)*.

Did you understand all of that? Don't worry, I didn't either at first and they are talking about my child. This is the most basic article I have found, meaning I actually understand most of what is written with out having to look it up. I really wish I had taken more science classes in college because BIO 101 did not prepare me for speaking intelligently on the subject of Chromosome Disorders. I'll leave that up to the professionals. This PSA from Chromosome Disorder Outreach (CDO), in my opinion, accurately describes my family. Our feelings. Our challenges. Our life.