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

Why does Bella needs all of her appointments every single Tuesday?

Update: it has been ages since I did a life update

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Tuesday are our days we take Bella to physical therapy and psychology.  We sometimes also see other specialist on the same day. Last month we ordered Bella's shoe inserts they are called chipmunks they are a plastic insert we put into her shoes and she wears them all the time. This is part of the treatment for Bella's leg pains that come from having a mild form of Cerebral Palsy. cp for short. Bella has digeorge 22q11.2 deletion syndrome and this is just one of the many ways we keep her as active and healthy as she appears.  Spring break we will pick up Bell's shoe inserts and she is excited about them for now. They stay in her shoes like dr scholls inserts. Her shoes have high arch and are new balance with insert put in. Bella loves running and is excited girls on the run has started up again. 22 laps around the gym every Monday and Wednesday. 

we had Bella's occupational therapy assessment and we have great news.... Bella does not need occupational therapy.  The other stuff will come once we are better able to handle her adhd both emotional and physical adhd and panic attacks a lot better. Bella does get tired more and she is on a mussel relaxer for the leg spasms at night.  We are to continue with physical therapy as that seems to be helping Bella so much with her leg pains from the mild cerebral palsy spasms.

For the psychology part of her appointments seems our girl is having panic attacks the joys of entering puberty and works herself up into a temp of 99.9. right down to tummy feeling sick and while everything her mamma has syncope.

  Seems on Fridays the school calls us and Bella has migraines and no one can tell what is causing them. Bella says the loud kids and sounds in her class but they are no different any other time of the week. I think it is something else all together. We will get down to it and figure it out even if I have to order a smiley face button spy cam to get to whats distressing her. 

Bella needs more self esteem building because she has been told how much she can not achieve at school vs what she can achieve at school. There is also a tight group of girls that Bella is not apart of. She is friends with two other kids who refuse to take part in the clicks which I am so proud of her for standing up for herself. There was a few things that come up where she was picked on by some other kids who claim they were just playing a little game with her but that worked it self out. Bella also does not like how loud the bus becomes. Kids in her classroom seem to be a little to loud for her to handle. We also have some issues where we have taken her to busy restaurant or concerts and the loud sounds bother her there too.

 

Other then the typical day to day stuff of routines and normal structure there has not been much to blog about in terms of updating friends. I did get a new couch and a dslr cannon camera that I am loving. I will have a gallery of my photos soon for all of you to check out

Thank you to everyone who has asked how Bella has been doing and wondering where my updates have gone. Over time Bella updates have been less and less and we are moving forward in the right directions in all areas of Bella's life creating that balance I have longed for since she was little.

oh and we are also getting a dog :) I will share photos of our new friend once we get him home. he is a rescue dog from the animal shelter. I can not wait to share him with all of you and introduce you to our new pet. The godlfish are still alive and going strong. I never realized how long gold fish live when you actually take care of them. The goldfish have been with us for the past 3 years.

 

Self care tips: using Lovebeautyandplanet product line

sponsored post: Lovebeautyandplanet self care products for personal care health and beauty. A Review by Amanda Ripsam

 

My hair after use of the shampoo and conditioner. I did not need to use the dry shampoo but I used it on Bella and she loved it. Bella did not want her photo taken for this blog post so I am sharing the dry shampoo that I got in with my goodies. I got body wash, dry shampoo, shampoo and conditioner. The scent is citrus and coconut. I love the smell of them all. I love that they can be found at Target or Wallgreens.   

My hair after use of the shampoo and conditioner. I did not need to use the dry shampoo but I used it on Bella and she loved it. Bella did not want her photo taken for this blog post so I am sharing the dry shampoo that I got in with my goodies. I got body wash, dry shampoo, shampoo and conditioner. The scent is citrus and coconut. I love the smell of them all. I love that they can be found at Target or Wallgreens.

 

sponsored post: Lovebeautyandplanet sent me these products from Crowdtap for free in exchange to test and review the products mention. All opinions are my own.

My goals for 2018 is to be more open and share even more with all of you. a lot of my readers are parents to children who have a genetic disorder called 22q1.2 deletion syndrome there for I wanted to take some time to share about some of the self care products I use and suggest for others to use. 

Most of the products I suggest I pick based on if I love them or already use them. This is a new to me product that I have fallen in great likeness over. I like them and Bella our 10 year old also loves them. Bella and I both tested out the shampoo, body wash, conditioner and the dry shampoo and we both love the citrus coconut scent.

It is imporant to take time to shower oh I can not tell you how many showers I skipped out on when Bella was born I would loved to have had some great dry shampoo back when she was younger. One or two sprays is all that I needed and my hair felt more bouncy and smelled so good. I take pride in the fact that 10 years later I take personal time for me to shower and take that extra step for personal care health and I even have a beauty routine.

As you can tell I was super excited that my first freebie find of the year arrived at my door today. I did not even have to walk in the snow to go to my mail box. I love when packages arrive at my door.

Since 2012 I have been a member of so many websites that offer products in exchange for a full size product or samples that I have been asked to make a video about how do I find all of these goodies I get in the mail my friends want to know how I too can do this. I use the power of the internet my laptop and my time. You do not just get things for free.

I had to write ton of surveys and answer questions before I scored this box filled with goodies. It is something I do while sitting on the couch watching tv or while Bella watches her tv shows on Netflix and I have seen them a billion times or if my hubby is watching one of his commic nerd movies oh Marvel why so many ? I admit I do love a good Marvel movie. oh yeah back to the freebie hunting and the cool package I got.. My hobby started years ago. Its not something new I am doing. I have tips and tricks I wanted to share and I thought I would write a mini post about the most recent example. I even shared about it on our Youtube channel.

https://www.youtube.com/watch?v=S_HuGa7mYOk


Lovebeautyandplanet is a new drugstore favorite body wash, shampoo, conditioner and dry shampoo that Bella just discovered for the first time. . Bella thinks dry shampoo is the coolest thing on the planet because it means she can wash her hair less. A moms struggle is real here. At least it is Bella approved and totally something I would let her use so win win for us.
There is a light citrus scent and it smells so great with the coconut. I am looking forward to testing all of these for the crowdtap mission.

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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.

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