traps and my little lucas

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Presentation given at RMC to the staff of 2 Medical

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TRAPS and My Little Lucas:

TRAPS and My Little Lucas To the 2 Medical Staff of Ridgeview Medical Center Ellen Dreier December 16, 2010

TRAPS:

TRAPS Tumor Necrosis Factor Receptor Associated Periodic Syndrome Auto Inflammatory Disease Many Various Symptoms Symptoms Appear and Disappear Many time Diagnosed as Viral or Bacterial Infections

history:

history First Cases of TRAPS The Many Names of TRAPS Present Day TRAPS

etiology:

etiology Considered Unknown Gene Mutation Chromosome 21 Autosomal Dominant Disorder

Symptoms:

Symptoms Fever Rashes Conjunctivitis Periobital Edema Abdominal Pain Myalgia Arthralgia Pleuritic Chest Pain Headaches Many Different Infections

Misdiagnosis:

Misdiagnosis Juvenile Rheumatoid Arthritis Infection Viral Infection “Growing Pains” Benign Idiopathic Nocturnal Limb Pains of Childhood

Treatments:

Treatments No Definitive Treatment NSAIDS TNF Blockade Steroids Glucocorticoids Etanercepts

Living with traps:

Living with traps Controlling Medications Frequent Testing Dealing With Many Infections No Cure Family Planning

diagnosing:

diagnosing Speaking with Doctor Difficult to Diagnosis Consult with Genetic Counselor Genetic Blood Tests

Affected populations:

Affected populations Diverse Ethnic Groups Previous Genetic Mutations

Reducing traps incidences:

Reducing traps incidences No Cure Family Planning Genetic Testing

Economic impact:

Economic impact Cost of Treatments Children Missing School Adults Missing Work Parents Missing Work

Lucas’ story:

Lucas’ story March 16, 2006 Jaundice Colds Infections Doctor Visits Specialists

His eyes:

His eyes Red Around the Outer Eye Frequent Dark Circles Swelling Itchy Red on the Inside

fever:

fever Up to 105 Lasts Days Not Hours Does Not Mean He is Sick Can Be a Sign of Infection

Muscle and joint pain:

Muscle and joint pain Trouble Walking He Hurts Inactivity Acts Like Rheumatoid Arthritis

headaches:

headaches Neck Pain TRAPS Stress He Cannot Explain Them

swelling:

swelling Facial Swelling Joint Swelling Swelling from Infection Swelling Due to Bug Bites

Rash:

Rash Dry Scaly Many Areas Affected

infection:

infection Easier To Get Last Longer Hospitalizations

Heart murmur:

Heart murmur Slight Bluish Tint of Lips Fatigue From Inflammation

The treatment plan:

The treatment plan Enbrel Ibuprofen Tylenol Steroids Epi-Pen Antibiotics

Helping Lucas:

Helping Lucas Many People Dr. Hackett Dr. Lindor Dr. Binstadt Dr. Hope Family and Friends

Helping Lucas:

Helping Lucas

Affecting everyone:

Affecting everyone Knowledge is Power Safety is Necessary Understanding is a Must Let Him Do What He Can

Things to remember:

Things to remember About TRAPS Rare Disease Limited History Physical and Emotional Stress Many Symptoms Few Treatments Economic Impact About Lucas Many Areas of Body Affected Many Medications Doctor and Hospital Visits Understanding Knowledge He wants to be a Normal Boy