Digeorge Syndrome - Etiopathogenesis, Clinical Features,Diagnosis and Management

[@andybell4066]

I have this genetic disorder. 25 years old, diagnosed from when I was 3 years old. This is kind of how I explain the disorder I have to those who don't know it and I'm not a science student, I'm a professional Artist & Designer. I basically learned to explain it in scientific terms by talking to other science students & science professionals about it to help me explain it to the normies. I generally start the conversation with "Okay so it's like the butterfly effect in timelines when a small change can effect a timeline in science fiction time travel theory, however except for time travel it's a small part missing from the 22nd chromosome that makes significant mutations in most areas of the human anatomy of the individual blablablablablablabla". Living with 22Q kind of makes me feel I'm a hybrid of a different human species, especially when considering all the multiple disorders and mutations that occur within the individual all at once and everyone born with it has it differently. Did Aliens try to breed with Humans at one point and cause 22Q? (That's a joke question lol.)

[@vigneshvarma9250]

Haha fantastic! Great to see this mindset 🔥

[@andybell4066]

@@vigneshvarma9250 Haha thanks. I'll share this around to educate the "normies" along with other articles and stuff that I tend to throw around to show people that are clueless or still learning about what the disorder is. Because not many people know about it, yet it's fairly common that can associate with Autism and other disorders in the spectrum, especially if that 50/50 chance the next offspring doesn't get it, chances are if that offspring doesn't get it then most likely they'll have something like Autism like my little brother. As far as I'm aware of, 22q is also a "parental thing" (which means can give offspring some form of disorder/disability) for things like Autism, heart problems, eating disorders, ADHD, schizophrenia and other things. Thank you for helping edumacating people and spreading awareness about 22Q.

[@vigneshvarma9250]

@@andybell4066 Yes it's definitely Hereditary and Thank you We need to create awareness 👌

[@tdtm82]

Remember that also some people may not realies that they had it. I wasn't diagnosed until later. The complexities of chromosomes means that people are different. I also amazingly have a solid immunity system. There needs to be a lot more research. I have a small mouth; facial structure and ears and this is part of the syndrome. I am clumsy (Dyspraxic) and I have 'spectrum' tendencies but my parents have no disability and are retired professionals. No one in the family has it.

[@preethi7751]

Great video🙌 Thank you sir :)

[@vigneshvarma9250]

Thank you Preethi :)

[@srinivasdasari6598]

😍❤️

[@nehaparmar3544]

My son has 22 Q deletion .we moved to canada after he was 14 months.The symptoms vary from mild to severe. His is mild . VSD didnt close but speech improved after submucous cleft repair. let me clarify please there is only 10% chance of it being hereditary.we both parents don't have it. It is a random deletion. Very important to share this important info and remove the myth. My child's child has 50% chance of getting it since he has it. He isn't on spectrum and takes therapy for speech. He has made many gains. Plenty docs both in India and Canada would look at his face and say he doesn't have any syndrome. But the diagnosis proved them wrong . Pls don't go by facial anomalies alone. his calcium dipped at birth leading to seizures due to parathyroid hormone not working. now it is all good and he is thriving. By gods grace....and science...he might not super intelligent but a smart kid with certain challenges like leg pains , speech issues etc .Leg pains is a common problem too often underrated.Just sharing our experience. Toronto has 22 q clinic at sick kids hospital.thanks to them..

[@tdtm82]

Please remove super intelligent then...intelligence works in different ways and people learn from memory store it in short-term but may forget. The syndrome is not linked to someone's brain capacity. He will struggle adapting because of his barriers but he will find his interests and excel with using intelligence. Arthiritus is part of the syndrome. Saying people who are disabled are not super intelligent is ignoring Albert Einstein; Stephen Hawkins; Thomas Edison and Dorothy Hodgkin etc....

[@ritu4975]

3rd syndrome!! Waiting for more :)

[@vigneshvarma9250]

Haha :) Will keep putting as long as I can

[@ritu4975]

@@vigneshvarma9250 trustinggg!! & happy doctor's day sir :) All the best wishes for reaching even greater heights 👍

[@vigneshvarma9250]

Thank you Ritu, Wish you the same :)

[@roshnatp9653]

Plz describe this syndrom in malayalam language

[@bboy9206]

👍👍i daily watch ur video while having morning breakfast , its like revision

[@vigneshvarma9250]

Haha my main aim is to make a Quick Revision for important points Will be more helpful in November/December

[@bboy9206]

@@vigneshvarma9250 thnku sir 👍

[@palwasha6565]

Ua soooo cute sir

[@sairam-vk5zz]

Microdeletion diagnosed by FISH

[@vigneshvarma9250]

Thank you for sharing this point Sairam, Forgot to mention in the video, This will help all :)

[@annam5008]

Great video !! Thank you !!

[@DrRishi-xx3yd]

Sir ur vedios are just addictive

[@vigneshvarma9250]

Haha , Thank you :D Please do share if possible :)

[@hashiivlogs5502]

Thank you so much❤️❤️❤️

[@nikitalohkare9060]

very helpful 🙌

[@dryashd]

Finding Bacteriology very vast.kindly name some extremely high yielding Bacterias that are most do.

[@vigneshvarma9250]

Staph, Strept, Clostridium,Salmonella,Treponema,Neisseria,E.Coli

[@dryashd]

@@vigneshvarma9250 Thanks a lot 👍👍👍

[@nagarajnarayanagowda1934]

Sir i have made notes from marrow , now that we have 6 months left , how many revisions do u suggest from marrow question bank before exam ..and I am using marrow as a sole source of reference ..so please hep me out sir

[@vigneshvarma9250]

Marrow is definitely enough as a sole source so stick to it, I suggest 2-3 Revisions of Q bank

[@nagarajnarayanagowda1934]

@@vigneshvarma9250 thank you sir .. ur very motivational

[@vigneshvarma9250]

@@nagarajnarayanagowda1934 Anytime bro :)

[@drbhumi7986]

Thankuh so much sir

[@vigneshvarma9250]

Thank you Bhumika :)

[@AlimaAktar]

Nice explanation

[@vigneshvarma9250]

Thank you Alima :)

[@AlimaAktar]

@@vigneshvarma9250 thanks to you also for such crystal clear presentation. It's of a big help. Waiting for more topics.

[@vigneshvarma9250]

@@AlimaAktar Yes Will try and keep posting 😇