Help Nancy Pantoni save the life of her disabled adult son, Dom, who suffers from a rare genetic disorder called DELETION 22Q.
EXCERPT FROM THE INTERNATIONAL 22q11.2 FOUNDATION WEBSITE: The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22 which is present from the time a child is conceived. Present in 1 out of every 2,000-4,000 live births, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate, the 22q11.2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the deletion is affected in the same way. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:
EXCERPT FROM THE WIKIPEDIA WEBSITE: The features of this syndrome (22q11.2 deletion syndrome) vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune system's T-cell mediated response that in some patients is due to an absent or hypoplastic thymus. 22q11.2 deletion syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). Affected individuals may also have any other kind of birth defect including kidney abnormalities and significant feeding difficulties as babies. Disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features. Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of schizophrenia. Read More: http://en.wikipedia.org/wiki/DiGeorge_syndrome
EXCERPT FROM THE NAMI WEBSITE:
Tardive Dyskinesia, or TD, is one of the muscular side effects of anti-psychotic drugs, especially the older generation like haloperidol. TD does not occur until after many months or years of taking antipsychotic drugs, unlike akathisia (restlessness), dystonia (sudden and painful muscle stiffness) and Parkinsonism (tremors and slowing down of all body muscles), which can occur within hours to days of taking an antipsychotic drug. TD is primarily characterized by random movements in the tongue, lips or jaw as well as facial grimacing, movements of arms, legs, fingers and toes, or even swaying movements of the trunk or hips. TD can be quite embarrassing to the affected patient when in public. The movements disappear during sleep. They can be mild, moderate or severe.
EXCERPT FROM THE WIKIPEDIA WEBSITE:
Tardive dyskinesia /ˈtɑrdɨvˌdɪskɨˈniːʒə/ is a difficult-to-treat and often incurable form of dyskinesia, a disorder resulting in involuntary, repetitive body movements. In this form of dyskinesia, the involuntary movements are tardive, meaning they have a slow or belated onset. This neurological disorder most frequently occurs as the result of long-term or high-dose use of antipsychotic drugs...
EXCERPT FROM PA DEPT. OF PUBLIC WELFARE WEBSITE:
Consolidated Waiver for Individuals with Intellectual Disability: The Pennsylvania Consolidated Waiver for individuals with an intellectual disability is designed to help persons with intellectual disabilities live more independently in their homes and communities and to provide a variety of services that promote community living, including self-directed service models and traditional, agency-based service models.