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Reflections on the 2013 ISHA Fall Conference: Multiple Perspectives on Genetic Disorders

25 Sep 2013 4:47 PM | Ann Ninness (Administrator)

Tuesday, September 24, 2013:  Continuing education is inspirational.  I agree with Socrates, Education is the kindling of a flame, not the filling of a vessel.” The perspectives presented at the 2013 ISHA Fall Conference caused me to reflect on the genetic component of prior and current patients on my caseload with newly informed eyes.  I do not take copious notes during seminars; instead I apply my full attention to the speaker’s content and just jot down a few “golden nuggets” of information.  Below are the nuggets from my memo pad:


§  When presented with a patient with hearing loss, consider it as a symptom not the diagnosis.


§  Success in life is measured by happiness.


§  Genetic Testing is not the same thing as a Genetic Evaluation.  Genetic evaluation is much more in-depth. 


§  Gene expression can change. 


§  When considering genetics, you must look at several generations of the family, not just the patient in isolation.


§  “Genetics is not destiny.”  Just information to help family support child in reaching their potential.


§  Between the 3rd and 6th month brain development is the greatest – 240%.  This is why early hearing detection is so important.


§  40-60% of admissions to children’s hospitals are for genetic or genetic related conditions.


§  To find a genetic counselor locally


§  To find a genetic counselor nationally   


§  Families can directly contact a genetic counselor if pediatrician does not share their urgency. 


§  Don’t be hesitant to refer on to genetic counselor, developmental pediatrician, or multi-disciplinary medical team.


§  Good resource


§  Stuttering has a suspected genetic link – incidence with first degree relative = 20-74% vs. incidence in general population = <4.2%


§  Genetic hearing loss is approx. 50-60% of all with hearing loss.


§  Of genetic hearing loss 70% is non-syndromic.


§  Genetic links between macrocephaly and Autism.

The day concluded with the heartfelt sharing of three women about their experiences in living with genetic conditions.  It helped to hear their perspective as clinicians, so we could increase our respect for their journey. 

Remember the slides for these lectures are available on the ISHA website on the events tab.

--Jennifer Freeman, M.A. CCC-SLP

ISHA VP of Publications and Communications

To support and empower members to provide the highest quality, life changing communication, swallowing and hearing services to the people of the State of Indiana.

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