Sunday, September 1, 2013

Why Family History is Important

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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 to age 7 when she was diagnosed with autism, which was much rarer then than it is now.  She had been homebound as medically fragile but once in a school environment had behavioral issues.   My gut told me something else was going on which was immediately confirmed by Children’s Hospital.  She was tested for Fragile X, which was also negative, but I also thought this may be genetic.  Due to already having both kidney disease and now autism, that made our decision not to have any more children final. 

 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 (preview is free).

Genes in Life
Genetic Alliance

 Rare Conditions:
National Institutes of Health
National Organization for Rare Disorders
Unique (chromosomal disorders)
Family & Kid Friendly info:
Remain Hopeful,


Lauren Agoratus is a parent/advocate who serves as the NJ Coordinator for Family Voices, a national network that works to “keep families at the center of children’s healthcare” at or FB  She also serves as NJ representative supporting caregivers across the lifespan for the Caregiver Action Network (formerly National Family Caregivers Association) in a volunteer capacity at or FB