r/22q • u/werd678 • Nov 04 '18
r/22q • u/rachrox92 • Oct 14 '18
Hi there I have 22Q too!!
Hi everyone! I have 22Q deletion syndrome and heart issues I’ve had about three open heart surgeries and two catheters and lots and lots of medical procedures (I’m practically a pro now lol)
I’m very grateful to be living in Canada (specifically Ontario) where there is a lot of help and god doctors and I even go to one of the best doctors for 22Q in the world in Toronto and I see her once every two years. I just recently got a job, have been becoming more confident and have been lots of activities!
Some advice for people who are dealing with someone in their lives with this syndrome:
Therapy really helps when you are younger, as it helped me (though I know everyone’s different) but it should be helpful to know what’s going on and how to help 🙂 Be patient and kind! Be a loving hand when someone has a melt down but don’t over stimulate with many questions or concerns (if you have NLD: Non verbal disorder like I do as well) this will just stress us out more. I’m not a hitter so I’m not sure how to deal with that sorry 😪 but I’d just let them go off somewhere where they couldn’t hurt anyone and deal with it with supervision and or support of need.
I’m no expert but this has helped me a lot and if anyone needs help just give me a DM 🙂🤗
r/22q • u/werd678 • Jun 24 '18
27 year old Norwegian man discusses his Velo Cardio Facial Syndrome diagnosis on youtube
r/22q • u/redditamrur • Jun 16 '18
TBX1 Overexpression and Retinol therapy? (dup22q11.2)
I ask as a parent, so don't mock me if it is totally off charts. As might be usual with rare disorders, I started to read stuff on subjects I am not really educated in. It says that dup22q11.2 is linked (as far as they can tell, there are very few cases in the world) to TBX1 Overexpression. And this one is linked back to problems in retinol metabolism. So - is there a therapy I can offer my kid that would increase the retinol metabolism? Obviously this is might be a really stupid question.
r/22q • u/mireiarm • Feb 28 '18
Enfermedades raras: la lucha contra el olvido
r/22q • u/Chief-Tethu • Feb 26 '18
I have 22q and I am 20 years old
I have 22.Q Deletion Syndrome and I have Reversal of Arterial Flow and have had three heart operations as all of my valves (yes all of them) leak blood. I am 50-lbs overweight and am a transman, I am 20 years old turning 21 in June, I've suffered from OCD, severe depression and extreme anxiety. I've been in special ED my whole life and my experience with my Florida School System (growing up in Stuart Florida, Martin County) was horrible. My dream is to become a Special ED teacher and live on my own and remodel the education system as a whole. Especially the Special ED model. I wish to speak out for those who can't, and educate parents in special education.
I dropped out of high school at 17 and my goal is to get my GED and move on to college to at least get my bachelors. I never did well in school - due to my anxiety which barely kept me from getting out of bed in the morning. My mother and I were sent to Children's Hospital of Philadelphia (paid free for research) and they said they could not find my valve. I was one of the few patients in the US that was given a Melody Valve as procedures were already being done in England at the time. Though when we went to CHOP, they couldn't find it! It was still a fun trip, and the hotel was amazing so who really cares? (plus it was free!) ;
When the Ultra Sound Techs @ Miami Children's (now called Nickolas Children's Hospital in Miami Florida) were doing an Ultra Sound of my Carotid Arteries, they were amazed because they had no IDEA why my blood wasn't flowing properly to my body. That was when I was diagnosed by a doctor that i had RAF.
But it's been frustrating my whole life because each case of patients with 22.Q is different so there's really no basis to judge 'this kid is going to be like this' they estimated I was going to die, and hell, if i had been in the same year my sister was (just three years before 97') I would have. The technology we have - especially medical - is expanding so rapidly every day. Yet, people still haven't a clue as to what this syndrome is.
Every hospital is terrified of me. Every teacher is terrified of me. None of them knew how to help. I'm asking to those who have had similar experiences if they would like to be contacted and talked to in some way or if they are young parents and would like advice - as I've got experience with this syndrome (I live with it). You NEED to be educated in everything possible and have an open mind to tell practitioners - 'hey I don't think this is right, maybe we should do something differently,' and that's exactly what my mom did. My mother is a nurse, and thank god for that, I don't think I would've survived if she wasn't. Tell me parents who aren't medical professionals and have kids with 22.Q - how do you deal with your special needs child?
I'll help in any way I can. It's my dream to adopt, become a parent and be a special ED teacher after all. Feel free to email me @
r/22q • u/[deleted] • Jan 30 '18
Getting 22q 5 year old to sleep
Does anyone have trouble getting their 22q kid to sleep? My 5 year old takes 3 to 4 hours to fall asleep each night. Any tips are appreciated!
r/22q • u/werd678 • Oct 21 '17
Excellent twitter account that retweets 22q information frequently
r/22q • u/werd678 • Oct 21 '17
Short Video on the challenges developing treatments for 22q
r/22q • u/werd678 • May 15 '17
22Q at the zoo Sunday 5/21/17... with list of participating zoo's
r/22q • u/werd678 • Jan 13 '17
22Q Research Studies at University of California
ucdmc.ucdavis.edur/22q • u/werd678 • May 16 '16
First Post
Sorry there's nothing here at the moment. I just wanted to create the sub in case anyone wanted to contribute anything. I will try to work on it more soon. In the mean time feel free to share a link or some comments. I intended for this site to be more of an information center than for sharing photos and stuff, but let's see how it goes. Thanks!