*TW (Trigger Warning: This episode captures a seizure).
Autistic Caring
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Thanks for watching the Autistic Caring channel and our latest video about; Intense Epileptic Seizure Sets Sunday Night Tonic/Clonic #22q.
Don’t forget to LIKE & Subscribe and click the Notification Bell. Follow the day-to-day activities of Dyan an Aussie Autistic Vlogger, based in Perth, Australia.
Dyan has a rare genetic condition which effects 1 in 6,000 of the population, called 22q11.2 Deletion Syndrome, commonly known as DiGeorge Syndrome – a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems causing a wide range of significant health conditions.
Dyan is #ActuallyAutistic on the ‘autistic spectrum’ caused by DiGeorge Syndrome and confirmed in DNA and DSM (Diagnostic and Statistical Manual) testing. With comorbidities of ASD (Autism Spectrum Disorder); ADHD (Attention Deficit Hyperactive Disorder), OCD (Obsessive Compulsive Disorder), Auditory Processing Disorder, Global Developmental Delays, Tourette’s Syndrome, Epilepsy (Tonic/Clonic, Absence & Myoclonic Seizures), Allergies and MCAS (Mast Cell Activation Syndrome), Chronic Fatigue and Fibromyalgia.
Dyan manages several complex genetic disorders; FAHR’s Disease a neuro-degenerative disorder which includes Early Onset Dementia and varying neurological symptoms as well as hEDS (hypermobile Ehlers-Danlos Syndrome) a connective tissue disorder.
Dyan has an underlying systemic autoimmune condition, with Lupus SLE and vitiligo. She has also been struggling with the condition known as ME/CFS (Myalgic Encephalomyelitis/Chronic Fatigue Syndrome) for over thirty-years after getting EBV (Epstein-Barr Virus), than PVS (Post Viral Syndrome).
Enjoy the daily antics, fun interactions, shopping hauls, resin art, home decorating, ragdoll cat, informative educational video content from Dyan who brings comedy, fast paced action from her ADHD, and incredible insight from studying Psychology as her autistic special interest.
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Information About 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome
DiGeorge Syndrome.
Also known as: velocardiofacial syndrome, 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome.
The most common symptoms include:
– Heart defects. or heart murmurs are usually present from birth (congenital).
– Mouth problems. These include cleft palate and a palate that does not move normally (velopharyngeal insufficiency). These can cause speech problems. Teeth that fail to develop normally.
– Ear problems. This includes middle ear infections or progressive hearing loss. Nasal speech. Eyesight problems; squinting, astigmatism.
– Low levels of calcium in the blood. This is caused by problems with the parathyroid glands and can trigger seizures. Calcium levels and thyroid needs to be tested yearly. Hypocalcemia is potentially a life-threatening side effect. Hypoparathyroidism.
– Immune system problems. These can increase the risk for infections and autoimmune disorders, Lupus. An immunologist needs to monitor your condition. Thymus gland dysfunction, rheumatoid arthritis or Grave’s disease.
– Spine problems. These include curvature of the spine (scoliosis) and problems with the bones of the neck or upper back.
– Learning problems. These include delays in development and speech, failure to thrive, short stature.
– Communication and social problems. This includes Autism Spectrum Disorder, ADHD, hyperactivity, OCD, difficulty in thinking and understanding.
– Increased risk for mental illness. This includes anxiety, fear, depression, or schizophrenia in adulthood. Memory issues. Hallucinations.
– Feeding difficulties. These may occur because of a cleft palate, gastroesophageal reflux, GERD, Gastroparesis or other GI issues.
– Kidney problems. These may include an abnormally shaped kidney, missing kidney, poor kidney function.
– Seizures and tics are more common, Tourette’s. Flaccid muscles, intermittent muscle spasms, breathing problems.
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