A new website “Genes in Life” was just launched and answers the question “How do my genes affect my life?” There’s great information on genetic testing and what it means for families.
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As you may know from past posts, my daughter has multiple disabilities. She was born with a rare kidney disorder which we literally found out on day one, and even though genetic testing was negative, we were told to mention to our siblings when they started their families.
Fast forward again to the present. Stephanie developed other conditions through the years like spina bifida/scoliosis, vision/hearing/dental issues, dermatological biopsies/surgeries, seizures, etc. She has been hospitalized a dozen times over the past two years post transplant with unrelated complications. The Human Genome Project has opened new doors in genetics. Stephanie did a blood test called a SNP array (single nucleotide polymorphism) and so did we. She was found to have a partial chromosome 21 deletion. Chromosomal changes can include deletions, duplications, or inversions. I found lots of good resources and felt like all of her symptoms were finally explained.
As I recently wrote in Exceptional Parent magazine, “If families know will ahead of time what to expect, they can take better care of their children, and the children will reach their personal best potential.” If you’d like to read our complete journey, see “What Genetic Testing Means for Families: A Parent’s Story” in last month’s issue of EP at www.eparent.com (preview is free).
Genes in Life http://genesinlife.org
Genetic Alliance www.geneticalliance.org
National Institutes of Health http://rarediseases.info.nih.gov
National Organization for Rare Disorders www.rarediseases.org
Unique (chromosomal disorders) http://www.rarechromo.org/html/home.asp
Family & Kid Friendly info:
Family Village http://www.familyvillage.wisc.edu/lib_gene.htm