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

The isolation of a special needs mom

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A parent was only looking for support in a online support group and this parent ran into online bullies like back in high school.

I felt the ugly feelings I felt when I left support groups 10 years ago and decided to blog first it was only for myself and then I started to let others in and now it's this huge website that once out grew me and has been standing still because I really haven't been sure what direction to take this website.

I remembered why I started this website and I wanted to put this post out there for all of those other parents who ever felt like they had to leave a support group because of those haters who creep around online all day ready to pounce.

All I have to say is thank goodness for that block button

The wanting to leave a support group it is not uncommon in support groups. support groups are for a purpose but some could cross that line into cult like trends. Sadly it is a common feeling in support groups to not be the popular voice or reason if you have a different view then others but even I too have been bullied and harassed. There was one lady who used to always wait for me to get online and start in on thyroid issues another about how I had 22q yet I still had a child.

It took me years to get a back bone and tell the bullies to bugger off. To this day some people don't like me for standing up and sharing my own personal truth because it is far different then their own.

Since I am grown I will not list the list of people who have harassed and bullied me because there is no changing their minds  but I have a blocked list a mile long for the reason to avoid them. They can ghost me all they want to and ignore me that is fine by me because that allows me to focus on the people who are supportive and positive.   In-fact my Facebook group has over 1000 likes of supportive friends and people so a group of 20 people who don't like me that is okay by me. We are not all created for every one to like us.

The type of harassment I ran into was people treating me like I am a child because I have 22q11.2 deletion myself based on their limited belief on how adults with 22q function based upon their understanding and their own fears for their children.

Some people even start too toot the I know more then you do horn and competing over who has it worst then you do. 

It crazy we come to these groups for support only to be blocked and ignored like back in high school.

Did I mention some of these moms are older then I am? and do not have the same deletion their children have. 

You would think they would understand and have that compassion but there are always going to be medical fear mongrels and haters of this disorder and everything that comes from it including secretly hating their own children. An entire country wants to wipe out downs syndrome what's next wiping out 22q as well?

Do you know how common a genetic disorder is that's half the plant gone. If we started to do that. That song where is the love comes to mind.

The worst feeling is you all ready feel isolated and alone in how you have to cope on your own struggling to connect with others with the disorder and your child's disorder but then feeling even more alone because you don't fit into any one group I don't fit in I was born to stand out I am okay with that I just wish others were as well.

I wish there was not such a divide when it comes to connecting and making friends. Screw the social norms and lets just be friends and fist bump each other at all times the good and the bad.

What happen to other women being supportive of one another instead of being in competition with one another over who knows more. I don't have to share how I know this and that. I am a mom with 22q I have a child with 22q, I am sibling to people who have 22q, I am a daughter of someone who has 22q and I have the perspectives others don't often have.

I see how this disorder effects everyone differently the good parts and the bad parts. I don't like to spew the same information over and over again I like to raise awareness and just write the blog post and the books.

I had the same harassment as the person who said I am not going to stay in groups any longer which saddens me that I have to say "yeah me too"

My call to action for this blog post is to unite together and fist bump one another on not behaving like that and being open minded and supportive.

 now I focused on spending time with the positive people the ones who do not want to compete and stare.

  I am so glad I created my own tribe and have finally made a group of supportive parents and caregivers of children with 22q and other special needs. that what this blog is for all of you who want to fist bump rather then punch out. 

I will share a post and get crickets but the mom next to me or the 22q adult next to me will write the same things I am writing using my ideas and get all the likes comments and shares.

If you want to fist bump me hit the like comment and share and let's connect with other parents and people who also need a few fist bumps or two.

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Love Amanda