My newborn was just diagnosed with 22Q11.2DS. I would like to know this community’s experiences on the tools that most helped them and their loved ones thrive and overcome development delays, intellectual disabilities, and learning disabilities. For example, if you had difficulties with math, what did you find helped you improve your math skills? What about speech development? Social interactions? Etc. Are there any particular tools or practises that helped?

I know that there are a myriad of symptoms that may present throughout my baby’s life, but it would be helpful to know people’s actual lived experiences in overcoming or improving adverse outcomes so that I can address them preemptively and/or as soon as they arise.

I note that we are fortunate to live in a large city with many resources so we already do have access to the health care professionals who can assist.

Thank you for taking the time to respond.

Hi, I’m diagnosed with 22q and have been having bad memory loss recently, if I’m distracted but I’ll hear a answer to a question that my partner says and a few seconds later I ask “sorry I couldn’t hear you/distracted” even though I could hear what they said?? Does anyone else have this issue? My partner is getting increasingly worried about my memory and he has been seeing get worse (from his perspective)

How does your child do socially? My nephew has 22q and academically he seems to be doing okay. He just completed the 1st grade and reads at a 2nd grade level and comprehends at a 1st grade level. I believe he is at a 1st grade level in math too. But I'm concerned for him regarding a social life. He is physically smaller than the other kids his age, and what I believe to be immature as well. Both physically and emotionally. He does have some friends, but they are special needs as well and I worry he won't be accepted by the gen ed students. What have your experiences been?

Hi all,

This is my first time posting on reddit and i've got a question about my son (13 months), who was born prematurely and diagnosed with 22q11.2 deletion syndrome. Bear with me ,this is going to be long!

So, I had a lot of pregnancy complications when I was pregnant with my son, which led to him being born very early and at a very low birth weight. Nothing came back positive on my NIPT screening during my pregnancy, so I was not aware that there could have been a genetic cause behind some of my complications. When he was born, a cord blood sample was sent off to the lab, which to my surprise came back positive for 22q11.2 deletion syndrome. For his entire first year of life following, we saw a whole host of specialists nearly every week at the hospital to learn more about how he has been affected by this syndrome and get everything checked out. The strange thing is, he does not seem to have any of the typical presentations of this syndrome. He has no heart issues, no thymus issues or immunity issues, no issues with calcium or other endocrine issues, no cleft palate, no issues with meeting his milestones, and none of the typical facial features either. He is physically healthy and happy. He does however have a couple minor congenital differences that i've been told can be associated with 22q that include a sacral dimple, pelvic (functional) kidney, hypospadias, minor syndactly of 2nd and 3rd toes, his right pupil is larger than the left, and a smaller than average jaw at birth, which had since caught up (which could have been due to prematurity) and none of these differences have caused any issues. He does not require any medications or maintenance of his 22q at this time. Ive been so puzzled by this all- and feel like i'm just constantly waiting for the other shoe to drop. I dont know anyone else with 22q, or for that matter, ever heard of anyone with an atypical case of it and im having trouble wrapping my head around my son's experience with it so far.

I guess my question is: is it even possible for 22q to be so mild it does not present in a typical way? Is it possible for it to be basically asymptomatic? Does anyone have any experience with 22q appearing like this? So far his doctors dont have much to say about it except to just be happy that he is healthy and happy.

Thanks for reading my novel if you made it this far, and I hope my questions do not pose any direspect or minimize the experiences of anyone in this amazing community.

My brother has DiGeorge Syndrome, or Deletion 22. He is kind and funny and an overall great person! He struggles with social anxiety and it can be tough for him to meet new people. I am wondering if anyone has any advice for someone in his situation when it comes to meeting new friends or even getting into the dating scene? Sometimes I wish there was a dating app that was more friendly toward people with difficult challenges like social anxiety, so that it would weed out the less kind people... I really want him to find happiness in new friendships, and ideally a life partner. Any advice would be so appreciated!

I have always had a cleft nose. My car accident has made it worse. Either that it’s with age. Does anyone else’s look like this?

Hi all i'm 21 and i have 22q usually i'm pretty good when it comes to getting tasks done especially essays with my dyscalculia i tend to write the crap out of them which has been very useful when i have a deadline i can't do anything else until i get it done and out of the way.

however out of a structured routine i find myself struggling to stay focused on various tasks especially hobbies. i was wondering if anyone else struggles with this?.

One minute i feel motivated and inspired suddenly the next i feel almost depressed and unable to do anything with zero motivation i don't forget what i was doing but i often forget my initial feeling of excitement and why i wanted to do said thing in the first place.

it's like i'm immobilized i've been wondering if this is linked to 22q or maybe i just have depression which could be a possibility. I have been looking into studies with other mental health problems 22q can be linked to i was curious if anyone else has these mood/motivation shifts?. i'm trying to find ways to control them so i don't loose focus and stay on track.

Hi all, our beloved newborn, who had 22q11.2 ds diagnosed prenatally, had OHS yesterday, and according to the surgeon's report, there was no thymus, which is consistent with his prenatal imaging. I have read that in some cases, there can be some ectopic thymus tissue, so that even kids with no thymus can have some T cells that way. Anyone have any experience of this? Or know of ways to tell if someone has ectopic thymus tissue? I understand that the main way is flow cytometry of the WBCs--but we haven't seen Immunology yet. How soon after birth / diagnosis did you see Immunology for the first time? We are in a cardiac unit and I am a bit worried that maybe some of the non-cardiac aspects of 22q are being overlooked...

Thanks in advance

Hi! My psychiatrist is having a hard time narrowing down my mental illness because of this. Has anyone got a diagnosis that could be something?

So I found out just after the birth of my daughter (5 months old now) that she has 22q deletion. Her immune system was low, major feeding issues/reflux and some less severe things.

I'm struggling so much. Being anxious every single time she feeds that her feeding issues will be back (they are, sadly), worrying about taking her out so we don't end up in hospital sick again, worrying about her life, mourning the idea of parenthood I had.

I'm exhausted. My partner is amazing and does more than their fair share, but I'm emotionally exhausted. I'm heartbroken at her future being partially robbed, she will survive of course, but all statistics pointing to needing huge amounts of life long support etc. The support we've had from GOSH has been fab though.

I'm in the UK and Max Appeal documents are fantastic, but I can't see anything on how parents can cope when they feel like they're drowning

Edit:

Thank you for all your comments. I'll try and get back to you all individually. I really needed to hear them when she's crying, not feeding and we're desperately hoping each feed improved so we don't end up in hospital again. It's hard to see the wood for the trees sometimes and you're all fab for taking the time to respond. Thank you.

Does any body has a clue on what could be causing them? We have the feeling it could be the feeling of anxiety/overwhelm. But i would love to hear other people experiences. This is for a 14 yo and started a couple of years ago.

Hi, I'm just ranting here.

I'm so tired of these "ear infections". Neti pots do nothing and I just can't hear out of my left ear. It's also always the left one? I know this is apart of DiGeorge but it's so annoying. It doesn't even hurt this time, I just can't hear anything. It's frustrating as hell but I don't want to go to urgent care for another goddamn ear infection. I just wanna cry. Anyone have any advice? Thanks for listening. 😭

For parents of 22q kids, at what age did you get your 22q kiddo potty trained? My son is 9 and it just seems like he's no where ready for it. Between the chronic constipation and him just not being bothered by being dirty it seems like a lost cause almost. I know it will happen when it happens but he's almost out grown the pull ups we can buy in stores and will have to probably start special ordering soon. Any tips?

Every time I looked up 22ql I've always felt confused cause I know I got diagnosed with it but it just feels like I don't have it considering how bad some of the symptoms can be

The only thing I'm aware of is potential heart condition I imagine there's a spectrum of issues of course

This person is suffering. He does not do anything that he normally used to do. He just wanders around yelling or talking at his voices, does not respond to people in his household, speaks gibberish half the time now. Doctors said he was OK to be released when we initially took him in but now it has only gotten worst since he got out.. some other doctors are now gonna increase his dosage to hopefully have some impact, but it doesnt seem like the meds are working.

Just wondering if anyone that has dealt with a 22q person with schizophrenia has any advice. This person is just so lost beyond anything ive ever seen in a person. Even though he had 22q.. he was never this deluded.

Hey ya'll. My daughter is 4 months old and just got a micro array test result that confirmed she has a 22q11.21 deletion. She has no apparent issues at this time and is a healthy, vibrant and happy little girl. Heart has been checked out thoroughly, calcium ion, facial proportions, very low bilirubin etc. all have checked out fine. She's small, and has a small mouth, but is/does her mom. And she's feeding like a champ.

We got one of those "at risk for" results in utero for 22q, but since she didn't have any of the typical symptoms, and those in utero screenings are highly questionable, we figured it was unlikely she actually had a deletion. But my understanding is THIS microarray test is quite reliable and to our surprise she does have it.

We'll be seeing a genetic counselor soon enough, but I'm just curious if anyone on here has guidance on how to relate to this specific deletion. There are other 22q deletions, correct? And they have a slightly different or adjacent set of issues to look out for? Is this correct?

And, separate but related question: since there are implications about her immune system should we more cautious about vaccines or more eager?

Thanks for you thoughts or for pointing me in the right direction.

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Hey everyone! Hope you're all doing well <3

Just posting to get some suggestions regarding my frequent ear infections. I have DiGeorge Syndrome and I get these infections all the time. This is at least the second or third one I've had in the past 10 months and i just can't hear anything at all in my left ear. The ear itself doesnt hurt but I have a big sinus headache and this stuff is just making school really hard right now.

I am going to urgent care tomorrow to hopefully get some antibiotics and get this squared away, I just wanted to know what others might suggest for future preventative measures? I'll ask my doctor tomorrow but I wanted to hear your guys' recs. Thank you!

I have a job but I feel like I'm not coping and constantly being asked how can they support me but I don't know how because it's all due to my processing speed. I can't find a new job because I can't count money so I can't work retail. I just feel like I can't find what I'm good at and what I enjoy. Every day feels like a struggle. I have 22q.

Does anyone that has 22q have this issue too? Like I have 22q and often times I’m unable to understand sarcasm, reading the room, sometimes simple instructions, hints that ppl give like moving their head to point at something and being clueless as to why they are bobbing their heads? Or things like that? It’s not like I have autism I am able to be sarcastic myself and all but understanding other ppl’s sarcasm can be difficult at times unless I catch onto their tone of voice. This was just thoughts and rants please discuss below if you or someone you know has these issues with 22q! I want to know if I’m not the only one!

Hello! I am a researcher at Boston Children's Hospital/Harvard Medical School. We have a study that can be completed virtually that may interest you! My lab and I are interested in identifying risk factors of severe psychiatric disorders in youth and young adults with 22q11.2 Microdeletion Syndrome. If you are between the ages of 9-26 years old, have a diagnosis of 22q11.2 Microdeletion Syndrome, and have a smartphone, please consider participating in our "Digital Phenotyping Study" (details below). Please email nerdlab@childrens.harvard.edu if interested! Study can be completed virtually or in-person! Thank you for your time.

Looking forward to hearing from you!

Best,

Maria

https://preview.redd.it/5m8wpl87jkcb1.jpg?width=930&format=pjpg&auto=webp&s=42e3d7b50263324a9261bd1ad9e28ffe03a88965

My daughter was diagnosed at age 4. We are lucky as she didn’t have heart problems or a cleft palate, but we did lose a chance at an earlier intervention do to the late diagnosis. We did have her in speech and physical therapy for her obvious developmental delay and that did help.

Besides the battery of blood, hearing, vision, and other standard tests to determine the magnitude of the effects of her 3 MB deletion the only advice her geneticist offered was to read A Different Life, by Quinn Bradlee and try to accept her diagnosis (BTW it is a very good book for parents of 22q children). While yes, accepting my daughter for who she is and the limitations the disorder imposes on her is an important first step, we received no further guidance an what types of drugs she could be on to help alleviate her cognitive symptoms. We didn’t even receive a referral to the pediatric psychiatrist! She was diagnosed and being tested at University of Florida health, so an internal referral would have been a simple process.

Luckily for my daughter, I have a doctorate in biochemistry and molecular biology so as soon we received the diagnosis I was doing a deep dive into the scientific literature. I started by listing the 46 genes that are contained in the deletion and looked at their function and how their metabolites were interconnected. Of course some genes are transcription factors that are critical for proper development and unfortunately the damage caused by their haplo-insufficiency is uncorrectable at this time. Yet many of the genes are parts of metabolic pathways which could, in theory be helped with dietary supplements that could help reduce the imbalance (calcium supplementation being one).

This was all happening year one post diagnosis. As I continued my literature review a common theme was emerging: early intervention can really help offset the developmental delays, and the earlier the better. Yet her doctors just continued with the routine tests and going into year two post-diagnosis we still did not receive any advice on what types of drugs we could try to help her during this critical window of development. It is widely known that the brain goes through a phase of rapid development from birth to about age six. This is a critical window for early intervention, and indeed some therapies have the best effect during this period. There are a number of well-tested, very safe drugs that could have pivotal effects during this critical period but we weren’t being offered them. Why not?

After the third time they gave her a hearing test, the first two tests showing her hearing was normal along with our own experience knowing she could hear us from a distance, I finally said enough with the re-testing and scheduled a psychiatry evaluation without a referral. During my literature review I had found a study showing that 22q children benefit from treatment with methylphenidate (aka Ritalin). The drug was shown to really help them focus and even had some long term data that implied it could have a protective effect on their brains. Their brains suffer from effects similar to accelerated ageing so any pharmacological treatment that counteracts the degradation should be in their regimen. I printed out the paper in case I needed to convince her psychiatrist she should be given this drug.

The appointment went well, with the psychiatrist agreeing that she should start the methylphenidate. The change in my daughter’s behavior was profound. She became much more compliant (I didn’t have to repeat a request three times before she acted on it) and her sentences and communication became much more coherent. Her teachers also noted the change and that she could focus longer on harder tasks. This was two years post diagnosis. She was now six, nearing the end of the critical development window and we had missed two years she could have had the benefits of the methylphenidate.

I don’t want other parents of 22q children to miss out on the benefits of early pharmacological intervention. Doctors will readily prescribe speech and other therapies but a very hesitant to suggest ADHD medications to young children. I get that there is a fear of the drugs interfering in the child’s development, but 22q children are not developing normally! I think it is a huge mistake not to let the parents try these therapies as early as possible. It could completely change the trajectory of their child’s development.

The whole point of this really long post is I would like to start a thread where parents can document what types of drugs their children are on and what the effects were. The experience of the parents, the primary care-givers, is a large untapped data set that I feel could be utilized to better describe how the drugs effect behavior and learning. I will start with another post with which drugs my daughter is currently on and why we switched and what the experience was like. I hope others will share their experiences as well.

Wow .. we just passed the 250 member mark! I set it up a several years ago mostly because one didn't exist on reddit. I know the site isn't very active but as more people join i hope it gets a little more content. Thanks for following the sub!

Hello-

I was asked to post some information about a research study on 22q being performed by the Nova Scotia Health Authority in Canada. Here is a link to the study, a link for a flyer, and below is a summary from the organization. Thanks for considering....

https://i.imgur.com/XPXoqLn.png

https://redcap.its.dal.ca/surveys/?s=7LJDMNMXY9MEKW4F

The 22q11.2 deletion syndrome (22q11DS) is thought to be the most common microdeletion syndrome. The health problems associated with the 22q11DS can strongly impact the quality of life of patients and their families. We aim to explore the impact 22q11DS have on the well-being of patients and their families and what costs they experience. In addition, we hope to test an online coaching intervention designed to help reduce this impact on families. The study has three parts and the families can choose to take part in different parts. First, we will conduct an online survey with 500 parents of children with 22q11DS aged 3-15 years. In the survey, parents will be asked to provide information about their own and their children’s well-being, the barriers to care they experience, and 22q11DS-related costs ( for example for medication, transportation, and so on). We will also directly interview some parents about their experiences and opinions. We would love to invite families experiencing a lot of problems or just a few problems as well as families who experience no problems at all. We want to hear and learn from everyone. The families who experience problems will be invited to take part in a clinical trial, in which some of the families will receive an online intervention designed to help improve their well-being. Through the study, we hope to better understand the needs and wishes of families. We also hope that the online intervention can successfully help families so that the intervention can be offered to many more families in the future.

Hello my name is Edward I’m 32 years old and I was born with DiGeorge syndrome. The biggest problem I have facing with it is social anxiety and I have trouble learning sometimes. I work a 6am - 6pm job at a warehouse that I drive to. I currently stream on twitch and play Fortnite on the four days that I have off to get better at talking to people. I hope by streaming it will help me to overcome my shyness. If anyone would like to talk to me feel free to contact me.

Hi I'm 26 years old and have 22q Deletion Syndrome. Over the years I have had many fainting episodes but the doctors haven't figured it out why yet. These past few months I have constantly been feeling dizzy and light-headed with no connection to what I was doing at the time. During these episodes I feel confused, scared, sweaty and not in control. Does anyone else experience this?

I was born with 22q which is Velocardio facial syndrome and have learning disabilities and social delays. Is this also apart of autism?