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

Donation button up you can now buy us coffee and smoothies

so I've come to find out I'm crappy at updating the website. I know everyone finds out all the info on facebook and other social media. However, I've been crappy at sharing on there as well. So, I guess I owe you. lol

Photo by me Amanda Ripsam used cannon rebel eso t6

Photo by me Amanda Ripsam used cannon rebel eso t6

Check out the kind of photos I can take with my camera. I upgraded I just need more lighting gear and our Youtube channel will be all set. I missed my youtube friends

Think of this post as a life update and a way for me to explain the buy us coffee button is up and you can use paypal money to send it to our donation funds

I'm currently working on loosing weight and that has been a struggle. The car needed $1,000 in repairs but we ended up paying only $500. Now because of the car we had to pay rent late making that any extra $50 for the late fee. I set up a donation page that will get deposited into our paypal account I hope to earn enough to help with some of the medical bills.

There is smaller things like I have to cost of the website the cost of picture day and fundraising this week for Bellas school. The cost of our Biggby dates while we attend Bella’s Tuesday appts psychology and physical theraphy we get a bit of a break in between to work on missed class work such as reading math and all of that fun stuff.

I have been trying to get The One family copes with 22q book complated but it’s going a different direction with agents suggestions. Editing is kicking my butt it’s almost completed, and taking care of my own health physical and spiritual. I am doing a 12 step program for food addiction which also helps with other issues because under these lines of addiction of any kind the thing about it tends to be excape or advoid. I’m journaling and answering questions to the 12 step program I considered posting those answers out on the world wide web but also know who my aduiance is lol I love you guys but sometimes you get a big squirly and overy concern.

I have also made the decision to not have any more beautiful children the rate of me having another 22q child is high. with my father my siblings myself and Bella who has 22q I think being 35 and already a high risk pregancy then add the gasteroparies it wouldn’t be a good pregancy for me. I admit I also want to have fun and enjoy life more. Bella is stable now and is doing well so well we are finally able to focus on my issues. I have a few doctors vists set up. One was eye glasses the other the gyno then there a physicans assistant I will be meeting to be my new family dr it’s an amazing office where oddly every doctor there are women. It’s one of the places my comerical insurance approves. I’m also going to be dealing with reader glasses vs bi focals. I’m 35 and need bifocals but I can get away with just readers at 1.25 for now and my typical glasses I’m far sighted with astigism

I'm also still enjoying Adam working a lot but I get bored during the day and I am trying to not spend so much time online. I want my online time to be productive (what ever that looks like) Thanks to Fb Instagram and Twitter for being big time wasters at the same time it’s allowed me to connect with all of you which I am forever thankful for. With that said, I should have more time to focus on writing and updating things after I get home.

I also need an editor who wants to work in exchange for food hair or photography. I can dream right/ I had an editor friend help me with my book and let’s just say we have taken it a different direction I wanted just a simple E book and a magazine article here or there but they are dreaming better and bigger for me.

There ya have it. Life update I know I suck at it sorry guys. I have posted 4 post recently I hope you read them and enjoyed

Thank you for reading

Gastroparesis

Gastroparesis

Gastroparesis Awareness Month is August and the reason I am writing about it is because I was diagnosed 4 years ago with this disorder. I have Gasteroparesis on top of 22q11.2 deletion syndrome.

 

 

I am medication free for 3 weeks now a new depression pill that is out on the market that is suppose to help with the vagus nerve damage that I have on top of having 22q11.2 deletion syndrome a deletion on the 22q chromozone I have this other disorder that is more pressing that I face challenges daily what to eat and how to eat consume me.

  I did it all diet and lifestyle change. My conclusion after the experiments and treatment from bravo capsule is where you swollow this maganitic pill that goes into your gut and it transmits to a recording divice and you wear it for a week then give it back to the doctors to tell how high level your acid levels are in your system my levels were very high, then they gave me a radioactive egg test where they take a picture of your insides with an xray at every hour for 3 hours in a hospital. I did a swollow study and a endoscope. I had bioposys done and poylups removed and brunt off. I had been told I'm not a candidate for surgery because of the hospital I go to is does not have a throatatic surgeon so I was told loose weight and sent to a nutritiosit who told me to eat smaller frequent meals that has small amounts of protines. Eat soft bland mushy foods like eggs, fruit and oatmeal and broth. I'm so tired of having to eat the same things all the time. I am tired of trying to loose weight and the more I try the more I gain. I then attempted the dreaded gluten free diet and dairy free diet
I am now almost all gluten free except for when I go out I have no will power when I am out of the house my mind and gut think freedom. This elimination diet the process of testings I had to endure it all sucks by the way. I was even bed ridden for the first part of the diagonses becasue I was not eating enough calories I couldn't make it past 900 calories I had to learn tricks and tips on how to sneak in healthy calories that were not carbs cause lets face it all that is soft bland and mushy is complex carbs. I had to blend my food and slurp soups. I had to miss out on church potluck days because I lacked the will power. I had the supportive friends but I didn't want to burden them with my struggles. I also have my daughter to deal with and my marriage trying to feel sexy is out of the question when your fighting with your butt and gut issues.  It took all of my will power just to get to where I could start walking again there were days my depression was so beyond what I could express into words that I thought what if I just chocked in my sleep one last time. Chocking in my sleep is also a symptom of this disorder.  Lack of sound restless sleep is another. I kept all of this to myself about how this effected my self esteem and I started to withdrawl into myself and retreat into my own world. Only having enough energy to face my family and most days I had to fake a smile for them and pretend I wasn't in real pain under my rib cage from vomiting the night before. I went and attened school and church functions like a champ. My friends stop calling because I stopped calling what am I going to talk to my friends about hey how are you your job going? I don't work I can not relate to anyone else I had a new hobby getting my life back on track in health and wellness mind body and spirit as all were crushed along with my hopes and dreams of the future.

Then I started think about my daughter and how would I advocate for her but not for myself why would I fight to keep her health up as well as I do if I didn't take care of myself. My husband helps so much but I had to do and deal with my own issues with this disorder. Both disorders I have 22q11.2 deletion syndrome and Gastroparesis

I am slowly healing from Gastroparesisit will never go away and could get worst before I get better and it is a cycle.
The flair ups and they have been less and less as I learn new ways to eat and balance life.
I even started seeing a new dr locally for myself vs traveling further out.
I am feeling much better and now I am working on sleep and routines.

Now 4 years later I am finally back on track I have been on track before but this is a new back on track for me as I am doing everything holistically and naturally. Educate yourself is the key to hope.

Question everything and avoid online group dramma that stuff and pull you in and suck you dry. The competitive I know more then you is strong in groups and they tend not to be about supporting which is why I started my blog to avoid the dramma and focus on finding others who are going though the same things. I think I am only in three groups now.
The blog has been around for 4 years and going strong at over 4,000 subscribers even with the changes I have had to make with web hosting. I am considering putting together a website vs blog. Youtube channel in the future as that's how media trends seem to go.
Remember its okay for self care so you can be the best you for your kids and family. .
That is my tip for the week.
What are some of your favorite self care tips? Thank you everyone for reading

Mommies Quiet Place Mission statement

In sharing motivation on how to handle life and move forward by learning more about 22q11.2 deletion syndrome though personal experience, knowledge and hope.

22q can be manageable I can help you. I have compassion for others who are struggling while learning about the many health issues that come from having a genetic disorder.

Join me as we learn more about 22q and bring awareness and support to those who have it and have children with it.

The purpose of my website is to educate and advocate to help others outside of the 22q community understand what it is like to live with this syndrome.

Keep on running and don't give up! My passion is to encourage others and parents as I am a trained mentor on the national parent to parent organization.

We need balance in Physical, emotional and spiritual rest welcome to Mommiesquietpace

What is life like for an Adult living with 22q vcfs digeorge syndrome?

What life is like living with Velocardiofacial syndrome called 2q11.2 deletion syndrome Digeorge

I was born on February 10 1983. My husband is 11 years older than I am. We met online through a mutual friend 11 years ago and last Feb 23rd we celebrated 11 years being together. Dec 29 we celebrated 8 years of marriage. Husband is 44 and has three teens entering adult hood. Adam and I have an 9-year-old girl named Bella. Just giving detail as my story continues.... it is the numbers that shouldn’t matter that do matter. Let me explain that living with velocardiofacial syndrome, a mild form of it, has its moments that make me wonder often why me? My young appearance is one of the things about the disorder I would like to change.

Adam and I went shopping for clothes for my 16 years old step son. We also picked up a few things for our 9 year old. At check out the cashier, an older lady, looked at me and felt I needed to be informed of my misfortune of looking too young to have given birth to an 9 year old! If her jaw could have hit the floor it would have when I handed the lady the sizes of boys pants and explained who these were for. I think she might have had a heart attack from disbelief or she thought I was making up stories. Then lady notices my husband coming to the register with more items. Cashier lady had a conversation with my husband while he was picking out boy’s clothes earlier and it clearly didn’t face her we were a couple! I was picking up girl clothes on the other end of the store. I wonder why she didn’t feel the need to inform him of how young he looked or even mention how young I looked to him? 

Not only did cashier lady feel the compulsive need to inform me of how I am too young looking to have even been a mom, she was shocked I managed to get married too.... In her good for you tone.... I kept quiet. 

I was rather calm about this moment then I have been in the past when others have said the same thing to me. I can tell you I have been there and done this before... oh I am so tired of it all the time.

Many times different people told me l will appreciate it when I am in my 30s. Here I am not appreciating any of this! Not at all. When does grey hair and wrinkles start? and how long before I start to age? I used to get teased in school too for looking younger.

I also have said something snappy in the past and would have asked for an apology.... I did not say any of those things. Instead the me today at 33 has dealt with others before who felt the compulsive need to inform me of how young I look. I remind myself to relax because I look young and it could be worst... I could always have had no ears to hear this lady.

So…
This time my response to her was: That is how life works! Funny, isn’t it? How I am not formed to fit your image.

I left with the lady to ponder what the ?

I was un effected, I didn't allow it to ruin my day like comments would have in the past. I’m liking this confident me.

Numbers do matter when you have a genetic disorder as an adult. I have 22q velocardofacial syndrome and not everyone I meet needs to be informed of my genetic disorder because it is not what or who I am. I didn't tell her: 'oh it’s my missing chromosome making me look young...'. I wasn't ever going to run into this lady again. I don't plan on returning to the store either.

I blog and help others but I personally am not branded with 22q across my forehead. I am so much more! 

Thanks for reading. -