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

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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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

Waiting while trembling in Doctors offices and operating rooms.

Fear Fighting by Kelly Balarie. is a book that I am on part of a book launch team. I have really enjoyed reading a book I can relate to.  I deiced to edit a blog post I had all ready had up and wanted to add a few touches too since reading this book. There is a chapter that really hit home for me and reminded me of this blog post I wrote. The chapter is called waiting well. You can find the book here“Fear Fighting.” Link back to www.fearfightingbook.com and www.purposefulfaith.com

One of the most fearful moments in life is getting a medical diagnoses you don't fully understand how it will effect you or a love one.

Most of my life I would pray to God for patience and in praying God given me many lessons in patience. Like waiting in line at the coffee shops, banks and the most difficult wait was waiting for my my immigration papers I will blog about that at a later date. I found a moment that we can almost all relate to which is waiting in a hospital waiting area. There is a room where we wait. A room where a lot of people pray and ask for others to pray with them.

Thisweek is no different Friday I will be waiting for Bella to come out of dental surgery. I will wait for her and pray for her once more and hope all goes smoothly. I will wait it out once again and be tested on my faith and my patience level as my husband and I have to get up at 4 am and get her to the hospital at 6 am for a 7 am surgery.

 

. The surgery was 3 hours long. Bella had two teeth pulled. . Bella has a few fillings and a crown on her teeth. Bella had a rough time getting the sedation medication out of her system but we pulled through it. I won't lie it was not easy. Last night she was up all night from 2 am until 5 am asking for ok more like screaming and demanding to watch Netflix. She needed her sleep she was hungry and then she got off the sedation medication and had a meltdown after the meds were wearing out. It was a rough night for us. Truth serum is in that sedation I swear it was so hard to hear all of her struggles and be powerless to help other than what we were already doing. No parent likes to see their kid in pain. We had lots of tears and sobs but we worked it out. She is eating soft foods and does not like things blended up one bit. She should be able to eat back to normal in a day or so. Just gotta make it through tomorrow. Monday she goes back to school and she should be good to go she did not like missing school Friday at all because the kids had a snow day the day before. Hopeful that tomorrow will be a fresh start and we can go back to normal routines.

 

I know a lot of you want to know how this was all covered insurance stuff was covered under her medicade and children special health. Adam has a fsa card from where he works so that paid for the deposit on the room at the hospital. We had issues with Bella's prescribed floried toothpaste getting covered but we are working on trying to get that covered. The dental work and the paper work was easy.  Bella saw her regular doctor before we went to the hospital to clear her for surgery. Bella has a small heart murmer but it is the kind not to be concerned about.

Here is Bella pictures from dental surgery she has such a pretty perfect smile so if you wanna bat a eye at me and judge me for saying no to your lollipops and sugary stuff go a head I dare you! I have spent so much time effot and money on making sure she has great teeth. Teeth is one of those issues that is common amonth children wtih 22q. I was born with to many teeth in my mouth and have issues now as a adult with my teeth that is not something I have to let me daugheter go though.  I don't feel bad for offending anyone who offers her hard candy or sticky sugary stuff and saying no thank you. There are so many sugar free healthy options we have found that she loves instead any how and perfers.

. Has your kid or kids had to have major dental work where they had to be on the sedation medications? Comment below if you want to share about your personal experiences with dental stuff.

I really should start giving guided tours or have my own room with a name plate or something by now. I have been in and out of hospitals so often I know the ins and outs, from filling out forms, talking to hospital social workers to knowing the medical terminology like a dr to get the insurance to do the billing correctly. Only I don't have a phd. I have had to be resourceful and mindful though it all. I also have had to find my own way with faith and as I think about this Friday and how simple of a task this time around is with dental surgery I remember it wasn't always so simple and planned out. I have a routine for hospital trips, busy bags and the works. I can teach seminars to parents about what to do and not do while waiting for the dr to call your name and see your child in the recovery room.

There was a point in time when I didn't wait well at hospital visits. I want to share a post I wrote a while back about the first time my outlook changed towards these multiple trips and visits to different hospitals and doctors.

 

 

The day my perspective change on mine and my daughter's genetic disorder called 22q11.2 deletion syndrome.

 

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One day sitting on a hospital bed next to my daughter as she was hooked up to wires for her video eeg for the fifth or sixth time to discover the cause of her seizures. I found myself in the poor me, whose is me self-pity stage.The why me lord was a question I asked often I was full of anger and didn't like this disorder but then I figured that anger was the stage before acceptance. Anger has a place and while waiting for the anger to fade into hopefulness I learned that acceptance is the stage after moving out of hopelessness into hopeful days for the future.

Waiting well is not always easy.

My daughter scheduled for another overnight video eeg.

The study prior to this video eeg the doctors had her sleep deprived for 24 hours. This time sleep deprivation was 48 hours although my husband told me go ahead rest my guilt of passing on the disorder ate away at my internal core.

I was sleep deprived for a week and finally started to feel the effects.. Why me? Why us? I felt like I couldn’t handle it much longer watching my daughter cooped up in a hospital room during the day with wires her head and body covered her every moved watched. In hopes she has a seizure which of course never happens during controlled environments at a hospital.

Sitting in the hospital bed I wept while Bella was finally able to sleep.

I had child life come in to relieve me so I could refuel on more caffeine.

My husband was working at the time and I had walked down the hall to compose myself…

As I walked to the family lounge in the pediatric ward I met another mother who had a child in the cancer ward.

The children cancer ward a place I was grateful my daughter was not in.

It could be worst it will get better I now tell myself. My moment of hopelessness washed away.

Sitting in that room with pity for myself while this mom is going back to her child who is also hooked up to wires but her child is fighting for life and hooked up breathing tubes. Her child was in a ward that is isolated.

I went to thank the mom but I couldn’t get past the doors to the cancer ward.

The locked doors separated the video eeg unit because the cancer wards are locked off meaning I could not get back there unless I was family.

I looked inside the ward and saw tiny children with bald heads rolling down the hallways in wheelchairs. The children I saw were younger then my daughter who was four at the time and the hopeless went to hopeful after I cried tears of thankfulness. I went from hopeless to hopeful in that moment.

It could be worst and it will get better is what I learned from my daughter video eeg that day. My situation didn’t change but my perspective has.

Have you ever been in a situation similar to mine where things seem easier with a different outlook on it? I would love to hear about your personal experience in the comments below.

Thank you for reading. #Fearfighting.

For more of my stories and writing of what life is like living with a rare disorder 22q11 check out www.mommiesquietplace.com