DITL With A Complex Rare Syndrome 22q11.2DS

Описание: DITL With A Complex Rare Syndrome 22q11.2DS #22q

The worldwide prevalence at birth is estimated at 1/4,500-1/10,000. 22q11. 2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. The term 22q11. 2 deletion syndrome covers terms once thought to be different conditions. These terms include DiGeorge syndrome, velocardiofacial syndrome and other conditions caused by the same missing part of chromosome 22. But features may vary slightly.

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by a small piece of chromosome 22 missing. 22q11.2DS is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences. The symptoms of this condition are extremely variable, even among members of the same family.

Welcome to Australian YouTube Channel "Ok Aussie" with Dyan & Matt 👋

Please Like, Subscribe and Click the Notification Bell!

Follow the day-to-day vlogging antics of Dyan, a female Aussie Autistic & ADHD YouTuber & Advocate, along with her partner Matt, Willow the Ragdoll Cat, in Western Australia. 

Dyan has a life-threatening rare genetic chromosonal condition "22q" or more fully; 22q11.2 Deletion Syndrome and is vlogging as she lives her best life authentically.

In our vlogs you will enjoy; Shopping Hauls, Product Reviews, Resin Art Projects, Home Decorating, GRWM, DITL, Coffee Chats, Comedy, Funny Shorts, Stories, Podcasts, Places We Go, Aussie life.

We have a great future planned. Follow along to see how our life unfolds. 

Welcome to Ok Aussie, glad to see you here!

#vlog #viral #instagram #trending #youtuber #instagood #youtube #vlogs #22q #ditl #dayinthelife #disabilitylife #disabilityawareness