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

Eyes and aging 22q and adult health issues

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Another dr this one eye exam dr didn't know/remember what 22q11.2 was.
If anyone going to change awareness out side of 22q world it is me.
Not many others do different one dr nurse specialist at a time will learn from Bella and I and others like us.
This is why I keep mommies quiet place.
Both Bella and I had eye exam today
Bella astigmatism and near sighted scored two pairs of glasses and I scored bifocals and first stage cataracts which I have known of for a year are still same they haven't gotten worst since last exam.
Vision is just blurrier vision so readers and glasses or bifocals.

I picked up glasses and readers. 1.25 which are not so easy to find by the way

I'm to young for bifocals lol 35 and falling apart.
Should be able to show off our new glasses by the 29th
Thanking the insurance people.

I'm sick of being a freak!

I am not always your ray of hope! I'm sick of being a freak, that is the disabled lady with abilities. Just screw the whole "dis" thing.  

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The past 48 hours have been hell. I am not going to sugar coat how awful living with this disorder can be it was a tough one to keep positive while waking up choking in my sleep on stomach contents. 

It was tough when my husband didn't understand what to do and watching him feel helpless and lost and not know what to do to help me while I felt equally lost and helpless. It was tough that this time my 10-year-old brought my puck bucket to me instead of me bringing her one.

The caregiver turned into the patient. This is not the first time either. On my older blog, I shared about my diagnoses the ups and downs. It has been 4 years since I had been in this kind of pain. I have had dry heaves, I have sleepless nights and always there stomach pain the doctors can't get rid of.   The pains from gasteroparies, not pains like when you're constipated it is painful pains like when you have the stomach flu and your period at the same time. What made this time so much worst was this time I had my periods during this ordeal.

I had stomach spiraling craps, I had dry heaves I had poops as large as my gut tearing out of my insides. I wanted to give up at one point I even asked Adam to help me end things said I was done. I was done with treatment I was done being an everyone ray of hope because I can wipe my own butt. I was done with everyone expectations of me being healthy because on the outside I look fine and so does Bella. Bella has cp I am done spewing the same public info and I am done with being anything to anyone else at that moment I was done mostly with being a woman who has periods. Not eating can take it toll on your emotions I was on 48 hour liquid diet at this point and I was hungry and scared. I get scared and angry just like someone of you who look up to me. I don't have ray of hopes when I puke for days.

  Sometimes my website might be a cheerleader saying you can do it but I need to have a cheer leader safe place to share with my friends that hey I had a major flair up tonight because I do not have the energy to tell my story 100 times to 100 different people. It is easier to just post it here and if people want to hear from me then they know where to find me.  I have not written much lately because I didn't know what to write about. I was suggested by Adam that maybe I should write about this. So why not. Here is fact and reality. Now I don't live like this daily in fact this past May we ran a 5k but today is not that day. Today I couldn't get out of Bed much while Adam had to help out. These days are not so close together anymore and I can manage most days with this stomach disorder.

Living with my stomach after gastroparesis is not easy and I'm not healthy as you like to think I just don't have time to sit and tell everyone my poor me stories because I am too busy trying to get back on track on routine after a flair up on par with my family again after an adjustment of another new treatment plan. For me taking care of myself is my biggest hurdle self-care is not something I like to do. I know how to care for others I don't know what to do when it comes to caring for myself really neither do most doctors because they have not heard of this disorder or the chromosomal disorder I have. 

I just make just when you think you managed it and got it under control Bam it bites you in the butt. I wake up choking in my sleep throwing up on the foods I eat. I have to rest and take care of myself. I don't do this well. I had a moment of being lost and hopeless feeling frustrated and scared. I too have my weak points I just don't usually share it all because people gossip and form their thoughts on what they hear from others.  Yet when I post my post I hear crickets Truth life is a rollercoaster!

Adam my husband is quietly there by my side helped get me a bath and helps send Bella into my room with a puke bucket I am 34 years old and had to have someone help me!

It not easy every day. I enjoy the easy days a lot more and I don't share the poor me why m post because I need positive I need to see positive while in the negative spaces.  I also know that other people need to see that I get it and that they are not alone because being there experiencing something alone sucks. Not having answers to questions sucks. Not knowing sucks. I am still there some times. I may know about 22q but this disorder I have had been dealing with for 4 years apparently needs to teach me I need to open up more and reach out to others. So I'm reaching out to all of you if you read this don't let me hear crickets. let me know you read this post. Thanks for your support and I am not throwing up today, in fact, I have a doctors appointment, later on maybe I am not done with treatment plan but sometimes it needs adjusting because what works for others with this disorder does not work for everyone.

Subscribe to our Youtube channel

Hello there!

Bella has been wanting to have a Youtube channel to share the mlp, mindcraft and her running. I created a post check out the facebook page link below of everyone else who has a youtube channel who is a kid or adult with 22q. I created one post for everyone to share their social media pages that way we can all follow each other.

Facebook link is of the post where you can head on over and share your channel 22q adult or child can share let's support one another. 

The video below is of Bella playing Mind craft with her grandma in Fl. We live in Michigan and Minecraft Realms allows Bella to spend time with grandma.

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