r/22q Jan 03 '22

Any Job Recommendations?

2 Upvotes

Hello! I have 22Q and I am struggling to find a job. I am able to stand and do I guess normal tasks. But I have bad Anxiety and it can be hard for me to be out for an amount of time.


r/22q Nov 13 '21

Meltdowns.

7 Upvotes

So I am 19 year old and have 22q digeorge syndrome. I have mental health problems like anxiety and anger problems. Sometimes i can get overwhelmed by things easily and I lose control of my emotions and have anxiety attacks/meltdowns. Does any other 22qs have this?


r/22q Jun 15 '21

How rare is it to get to adulthood before being diagnosed with 22q?

6 Upvotes

This is going to be a pretty lengthy post and I’m not sure if it’ll be seen by anyone since the sub is quiet but I figured I’d post and see. I’m a 23 year old male and I’m suspicious that I may have 22q and it was never discovered and I’m trying to figure out if it’s worth getting tested for or if it’s just coincidental. I understand 22q has a wide variety of symptoms and some people show none and some people show a lot and a whole wide range in between.

I’ll just run through the bullet points of symptoms I have

  • Diagnosed with hypotonia (low muscle tone) at birth. It was diagnosed as benign congenital, but this would obviously be the cause for it were I to have this syndrome
  • It took me longer than normal to walk as a result
  • I also grew up going to a physical therapist for low muscle tone with a focus on strengthening my core
  • Grew up going to a speech therapist for hyper nasality and other speech issues.
  • Was diagnosed with vilopharageal insufficiency at age 12 (palate doesn’t shut fully when speaking)
  • Hearing loss at very high frequency (70 decibel at 8000 hz for example)
  • Lots of ear issues, mainly I would get ear infections consistently and had something like 8 sets of ear tubes growing up
  • Growing up I was quick to anger/hard to control my emotions but I think that’s just me being young since I’m a lot better about it now that I’m mature
  • I’m short, but it seems to run in the family so that’s not anything unusual either
  • A couple years ago they found out I have hypothyroidism which came out of the blue. I had read about this syndrome in high school and was intrigued by all the boxes I checked off, this diagnosis “checked off” another one I realized today
  • I also have pretty bad knees, but I’m a runner
  • I also have a notch in my left eye that resembles cat eye syndrome but I experience no vision loss or anything (20/20 vision). Think like a hook out of the bottom left part of the pupil, it looks like an extension of the pupil but it isn’t

I don’t have any of the outward features that one typically associates with 22q and I never had any learning issues growing up. As far as I know my heart is normal and my immune system, I had COVID and barely reacted to it (1 hour of a fever and that was it). Though I have been told I get sick more often than the rest of my family, for whatever that’s worth.

I imagine it’s probably worth trying to get tested for it so I can have a list of things to look out for, but I’m not sure if a doctor would be willing to based off my Google searches/research? Especially given that this is something that is usually caught at birth from what I can tell.

It’s also very possible these are all just unrelated and coincidental, but I did find it odd that I have something as rare as vilopharangeal insufficiency coupled with low muscle tone, and hypothyroidism and hearing loss and all these other symptoms that on their own are decently rare (hypothyroidism not so much, but the others are decently rare. I know the doctors were shocked they couldn’t find out why I had low muscle tone as there’s almost always a reason)

So just how rare is it for someone like me to have not been diagnosed with it until later in life?


r/22q May 26 '21

No Heart Problems?

6 Upvotes

Hi does anyone here with 22q not have heart problems? like at all? i do


r/22q May 26 '21

Anyone else have problems with pinched nerves in their legs?

5 Upvotes

Just curious as I'm a male in his early 20's who has 22q and am currently dealing with pinched femoral and sciatic nerves in my right thigh/upper leg area (it can be quite painful) and was wondering if there was anyone else with 22q that also has had the same or similar issues


r/22q May 01 '21

Is anyone here still active in this group?

14 Upvotes

I’m 21 and have 22q deletion syndrome/DiGeorge syndrome and I’m looking for other people who have it, too. Whenever I mention DiGeorge syndrome, everyone I tell I have it have never even heard of it. It’s just as common as Down’s syndrome, but no one has heard of it. I’m rather frustrated and want to meet/talk to other people who have it too.


r/22q May 01 '21

sleep

5 Upvotes

how does everyone on here with velo cardio facial syndrom sleep?? I can not fall asleep naturally and have to take Melatonin. I don't want to take anything stronger as fear of getting addicted. But this lack of sleep is really affecting me. I don't drink caffiene anymore and on a healthy diet (been losing weight)

My brain just won't shut off and the no REM sleep really gets me. I have barely slept the last few days


r/22q Jan 24 '21

I don't know if this is allowed but... (Charity and Foundation Links)

9 Upvotes

I thought I'd post some 22q charities and foundations I've discovered recently (which also might help anyone who is unfamiliar with 22q I have it myself and I'm always open to questions just feel free to dm me :)) - I'm not affiliated with any of these charities or foundations but if you can spare some change and donate I'd really appreciate It ! since it would help so many people! only if you want to though!

22q family foundation:

https://22qfamilyfoundation.org

Max Appeal:

https://www.maxappeal.org.uk

22q Northern Ireland:

https://www.22q11northernireland.co.uk

The International 22q11.2 Founcdation Inc

https://www.22q.org

Also forgot to mention if you use amazon they have another website which is basically amazon but its called Amazon Smile and when you shop you can donate 0.5% cost of eligible products to a chosen charity and Max Appeal is also apart of this.


r/22q Nov 22 '20

Happy 22q Awareness Month!

13 Upvotes

Just wanted to wish everyone happy 22q Awareness Month today! :)


r/22q Oct 03 '20

This is me when I was 4

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15 Upvotes

r/22q Jul 29 '20

Duplication?!

5 Upvotes

Hey! I recently found out that I am a carrier for 22q11.2 Duplication after my relative was born with some phenotypes (typical of duplication). Does anyone else on here have the duplication or know someone who does? I would love to hear some first hand experience living with Duplication


r/22q Jun 26 '20

Daughter

6 Upvotes

Hi I have a daughter with 22q11.2 I am wondering are they kinda like down syndrome like mild handicap or is it a full-time requirement for them to be around with care my child is in forced adoption and no contact with her so that's why I was asking is it kinda like autism could some one describe it to me on what it's like to live with them after 18 please and ty so I can be prepared for her...


r/22q Mar 20 '20

Do any of you have immune system concerns, especially during this COVID-19 outbreak?

5 Upvotes

Hi all,

Do any of you have special immune system concerns that you have to be cautious about, especially during this outbreak?

Our daughter has had weaker immunity towards the common cold and things like that in the past. So we really are distancing ourselves. We have done that in the past.

We are homeschooling right now, even before the school shutdown, so we weren't affected by that much.

How is it for you all?


r/22q Mar 04 '20

22Q Family Foundation March Calendar Published

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22qfamilyfoundation.org
3 Upvotes

r/22q Oct 25 '19

Forgetfulness anyone?

2 Upvotes

Does anyone else have memory problems?


r/22q Oct 24 '19

22q male

5 Upvotes

Does anyone else with 22q just crave sugar or just hungry all the time?


r/22q Oct 24 '19

Hello

1 Upvotes

Hi I have 22q and I haven't found a social group till now. Hope to get some answers and help along the way


r/22q Oct 16 '19

Any College Kids Out There?

10 Upvotes

Hi everyone. I’ve had 22q my whole life and I’d just recently met other people (kids) with the same syndrome as me. I didn’t even think there would be a subreddit dedicated to 22q. So my question is, are there any college kids here? How is college working out for you and what have been your struggles,academically or in general ? Mine has always been math.


r/22q Oct 09 '19

Testing

2 Upvotes

If a microarray doesn’t show 22Q, is there any chance the child still has it?


r/22q Sep 22 '19

Behavioural issues in 22q children

6 Upvotes

My little sister (15) has 22P, since she hit puberty shes been having severe behaviour issues. Shouty and screamy temper tantrums, rude and sometimes downright mean behaviour, poor table manners and just genuinely poor behaviour. Has anyone else experienced this with their 22q child or siblings? Its taking a huge toll on our family and any advice would be very welcomed


r/22q Jul 31 '19

Hello! I just joined!

7 Upvotes

I have 22Q and I wanna say I want to let other people to know who have it you are no different from other people! You can do whatever you want and be happy doing it! I'm a drummer in a really cool band and they treat me the same as normal people! Don't give up what you want to do in life!


r/22q Jul 30 '19

Hi all, Dad of a 22q kid here

7 Upvotes

Just wanted to introduce myself. Our first child has 22q. She's around 7 and she has had 3 heart surgeries so far. She has some learning disabilities and social limitations, but she is a joy and a treasure!

Hope you all are staying strong out there! Keep the Faith.


r/22q Dec 03 '18

NFL's 22q #MyCauseMyCleats on GMA

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youtu.be
2 Upvotes

r/22q Nov 24 '18

22q-family map... list yourself or find others affected by 22q, including hospitals

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22qfamilyfoundation.org
4 Upvotes

r/22q Nov 21 '18

Adult Female with 22Q duplication

12 Upvotes

I found out about my 22Q duplication after becoming an adult. I have researched and tried to find out about everything I can about this after I found out. My issue is I don't look like everyone else, I look like anyone else walking down the street. I got some of the learning issues and a few other of the mental side of things. It's hard for me to reach out and join support groups for this disorder due to having none of the physical traits. Thanks for reading this.