DiGeorge Syndrome Rylee Christy and Haarika Koneru

Fun Fact “After water, cocoa is the single healthiest substance you can put in your mouth. It can easily replace a number of psychiatric drugs for mood, plus it produces the same chemistry in the brain that occurs when we fall in love.” - Chris Kilham, WellBella

Patient’s Top Secret Folder Patient's Name: Jasmine Lopez Date of Birth: 07/19/14 Gender: Female

Symptoms ●Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis), ●frequent infections ●low-set ears ●problems with the palate ●delayed growth ●difficulty feeding ●failure to gain weight or gastrointestinal problems ●breathing problems ●poor muscle tone ●delayed development-such as delays in rolling over or other infant milestones

Diagnosis DiGeorge Syndrome

What is DiGeorge Syndrome DiGeorge Syndrome is a primary immunodeficiency, often but not always, characterized by cellular T-cell deficiency, characteristic facies are congenital heart disease and hypocalcemia. Digeorge syndrome is caused by abnormal formation of certain tissues during the fetal development.

Causes of the Disease/Condition The region of chromosome 22 that’s deleted is known as 22q11.2. The deletion of genes from chromosome 22 usually happens as a random even in the father’s sperm or in the mother’s egg, or it may occur early during fetal development. DiGeorge syndrome, otherwise known as 22q11.2 deletion syndrome, is a chromosomal disorder that usually affects the 22nd chromosome at the q11.2 location, with as many as 90% of cases displaying this deletion feature.

Ages Typical age groups affected: 0-2 is mostly affected < affected same

The Organ System that is most Affected “As part of the developmental defect, the thymus gland may be affected and T- lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections.’’

Risk factors ●High blood pressure ●High blood cholesterol ●Diabetes and prediabetes ●Smoking ●Being overweight or obese ●Being physically inactive ●Having a family history of early heart disease ●Having a history of preeclampsia during pregnancy ●Unhealthy diet ●Age (55 or older for women)

Complications Heart defects Hypoparathyroidism Thymus gland dysfunction Cleft palate Distinct facial features Learning, behavioral and mental health problems

Body system Interaction Immune system Skeletal system

Lifestyle Changes These illnesses – normally frequent ear infections as well as colds – are treated as with any other normal child. The majority of children with thymic function that is limited will still need to follow the approved schedule for vaccines. With these children, the immunity system functioning will get better as the child grows older.

Treatment Specialists: Cardiothoracic surgeon-Cardiothoracic surgeon-Surgically treats diseases affecting organs inside the chest. Otolaryngologist-Treats ear, nose, and throat disorders. Pediatrician-Provides medical care for infants, children, and teenagers. Medical geneticist-Diagnoses and manages hereditary disorders. Pediatric cardiologist-Treats heart disorders in children. Speech therapist-Specializes in voice rehabilitation. Cardiologist-Specializes in heart disorders. Endocrinologist-Treats metabolic and hormone disorders. ImmunologistImmunologist-Diagnoses and treats immune system disorders. Psychiatrist-Treats mental disorders primarily with medications. Primary care provider (PCP)-Prevents, diagnoses, and treats diseases. Plastic surgeon-Reconstructs defective, damaged, or missing body parts.

Emergency!!!!!!!!!!! If you have an emergency, come to the Cardinal Cardinal health center. Call: (913) Location: 5001 w 163rd Terrace, Stilwell, KS 66085

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