the beery family whole genome sequencing success · the beery family whole genome sequencing...
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The Beery Family �Whole Genome Sequencing
Success
Retta Beery!Patient Advocate, Mother of Twins with !Rare Neurologic Disorder
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�Zach, Noah, and Alexis Beery �
1996
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INCORRECT DIAGNOSIS OF
CEREBRAL PALSY IN 1998
TREATMENT CENTERED AROUND
INCORRECT DIAGNOSIS
FINANCIAL, EMOTIONAL, AND PHYSICAL COSTS
MOUNT
1996-2002
Multiple pediatricians !4 gastroenterologists !6 neurologists !1 pediatric urologist!5 naturopathic!Physical therapists!Occupational therapists !Speech therapists!Blood drawn 200+ times!4 pediatric ophthalmologist!4 orthopedic surgeons
Multiple X-rays!1 surgery (Alexis)!5 EEGs!8 MRIs !8 CT scans!9 Ultrasounds!Countless ER visits!3 Upper GI’s 3 pulmonologists!
3 ENT!5 allergists!1 oral surgeon!1 genetic doctor
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“Segawa's Dystonia Mimics Cerebral Palsy but is Treatable” Times Science, April 8, 1991
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Alexis - 2009-2010 • 7 emergency room visits!• 7 chest x-rays!• 23 blood draws!• 2 MRIs!• CT scan!• 17 Pediatrician Visits!• 2 ENTs!• 2 Pulmonologists!• 3 Allergists!• 1 Gastroenterologist!• 3 Neurologists!• 1 Endoscopy!• 2 (24 hour) Monitors!• Countless testing done by each
specialist!
No Answers!
Physical Cost!
Emotional Cost!
Financial Cost!
Struggling to Keep!Alexis Breathing !
while!Waiting for Answers
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The Genetic Findings
• Dopamine Responsive Dystonia in the Beery family is caused by mutations in Sepiapterin Reductase gene!
• Two hits (mutations) were found in DNA samples coming from Alexis and Noah: K251X and R150G
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Whole Genome Sequencing
• Consent Forms!
• Blood Draws!
• Gathering Information!
Definitive, Complete Diagnosis for Noah and
Alexis!
Additional Therapy!Resulting in Breath!
for Alexis and Higher !Function for Noah!
New Life for our!
Family
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Alexis Misdiagnosed !
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Alexis after Whole Genome Sequencing!
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