What is 22q in layman's terms?

A friend of mine asked me what is 22q in laymans terms with out the medical mumbo jumbo

I thought I would share a great discription to help everyone else understand because after all that’s what Bella and I have. I also have a father who has 22q, 3 siblings one of whom passed away from it. I have seen the good the bad and the ulgly side of the syndrome. when you get a confirmation and diagonses there are a lot of fears and worries about the unknown.

22q in layman’s terms is a small segment piece of dna that is missing on the q arm band on the 22q chromozone. Much like Down syndrome is an addition chromozone I believe on chromozone 23 correct me if I’m wrong there but 22q is not visable where down syndrome is. 22q is a total total body disorder that affects from head to toes. Your primary doctor will talk with you and might even not be totally understanding of what 22q is. I have run into many ER drs who didn’t know 22q or Digeorge was such a thing. some have heard of Digeorge because it is just briefly touched upon in med school if it is at all.

Genetics specialist is the first kind of you will see they will inform you of the risk if you have a child with 22q there is a 50/50 chance of them passing 22q on to their child. If you have 22q there is the same 50/50 chance of it being passed on. That’s how it occured in our family case.

ALL of us every single last one of us was tested (cost isn’t an issue with genetic testing in Canada where I was born and raised and tested) the doctors here didn’t want to test right at birth for the new born stuff when I had bella at helen devo childrens. I’m glad to have bene able to be one of the few adults they had in the hospital that gave birth to a child with the same genetic disorder. I’m kinda like this freak of nature you can’t stop staring at that is only after I tell you I have 22q. Other wise you would think I was just blessed with a good set of genes that make me appear younger then I am

Digeorge Syndrome is a small piece of dna that effects the total body. There are many other names the doctors who first discovered it had their egos get in the way and the history of people arguing over who knows more still plagues the 22q community as we try to get the same name.. Velocardiofacial syndrome, Digeorge syndrome Digeorge sequence, VCFS, Crainofacial anomally, contourial, cateye syndrome, obz and the list can go on.The main take away is you grasp that it’s on the 22 q arm band a small piece of dna. now some people have it all missing some of fragraments which is another blog posts for another day. I’m just putting what is 22q in layman terms for my readers who asked me to make it simple to understand as I have much more detailed in the what is 22q ? page. infact when you google what is 22q my blog is one of the many that pop up. I’m kinda proud and in aw of that at the same time

This results in develmental issues in the body’s system. Chromozones are our body’s instruction ools and with the small piece of dna missing it’s like our body is a product from Ikea and the last part you need to make it all fit together is missing.

The number one issue is hypocalciuma if your baby is blue chances are it’s 22q. If there are feeing issues chances are it’s 22q if there are heart defects it’s 22q.

All of which Bella and I both have among many others but not all of our issues are a result of 22q you have to play game of genetics 101 and not forget where our roots are from we are products of our parents creation weather we like to think so or not. My fathers and mothers family dna plays a roll in the case of me it was my father that tested positive where my mother did not. A lot of men are the moncho men kind and refuse genetic testes which is why it’s not common for it to come up in familys. There are very few family’s where everyone is tested and only 1 person has it truly only one person has it. My symptoms are so mile dit went unnoticed until I was 23 and getting married it was a last ditch effcort for my family to tell me to get tested as they thought that alone would scare me into not having a family of my own. now for some it does and that’s your personal choice. My self I choose life.

I chose to share my life stories with all of you and my hope is that none of you fear the unknown like I had to face alone.

thanks so much for the support

How 22q was discovered in our family dispite expert advice Genetics 101

I am a 35 year old with 22q I am a blogger I also have a 10 year old who turns 11 on the 27 here is my website look at the what is 22q link there are links to resources there https://www.mommiesquietplace.com We had me tested after my father tested positive when my brother tested positive and then my sister tested positive and my youngest brother tested positive all for 22q11.2 deletion syndrome. Mine was so mild and I have a different mom then my siblings I wasn't tested until I was 21. I had my daughter at 24 and she tested positive as well. The website I created because like you I couldn't find much info and support was hard to come across for adults who have it. I hope this helps a little. On top of 22q Bella has mild form of cp do to complications I endured during labor.

This is our journey right here on our website. I hope this is helpful and if you found it helpful please pass it on to someone else who is just doing the genetic testing and waiting results or has gotten their test results.  Social media has been the best form of support I could ever have asked for. There are a few bad grapes who want to think what they will about adults with 22q but it does not effect all of us in the exact same way. Each of us have different set of characteristics from our parents and support and environmental factors also have made a difference.  Awareness is out there more research that is accurate needs to be passed around from people who experience 22q first hand. This is just one of many stories.

There are parents I have come across who have had everyone tested and they have only one child who has it and that is called denuvo. Random chance of the genetic draw. With genetics it's like a nasty game of Russian roulette you never know what you are going to get. In my case I could have another child and with the 50/50 chance of passing it on I might have a child who does not have 22q. Then there are fertility options I can consider or adoption all very expensive treatments.  I am content being a step mom to 3 young adults and having given birth to my daughter 11 years ago. I am content where I am at and look forward to having more date nights out with my hubby now that Bella is at the age where she is not as dependent on me.  I been lucky enough to have friends and family watch her I have never had to get a babysitter. I am in a new phase in my life and I am able to take the time to focus on my writing that's what I choose to do with my time.

I want to thank everyone who has read and followed along my blog all of these years and kept up with the ever changing website. This one is finally it and is here to stay put. I started this website as a blog over on blogger as it was just a place for me to journal out my thoughts. then I had to invest in a domain as other's started to copy what I was doing too. There became a time and space where people were competitive over who knows more and that's why I pulled away from support groups online. I am part of only three really good ones., The awareness is out there research and funding and providing support services to family's like ours while I have not come across that many. That's why I am now stepping up my website game to help others because I know what it feels like to go the journey alone and feel like you are the only person like you that is out there.

If you are looking for support and kindness you have come to the right place.

enjoy the post and as always feel free to like comment and share.

thank you

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