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 after caregiving.

Mommies.jpg

Today was another dr visit for myself. Us moms gotta take care of us too. I went for a mental health eval and medical eval. No I'm not in crisis infact what ever the word for not in crisis is I am in treatment to actually get treatment not just banaid this and that and to finally get the adhd and sleep issues under control. Ptsd depression and panic is always going to be apart of who I am. Medication or not, treatment or not. It has been over 10 years since I have been in crisis and I am very proud of that. I am thankful at how far our family has come along. I am finally at the stage where I can begin driving. I panic as a passanger, I get distracted easily sometimes and my directional skills lack such as westnage and west main look simular I know they are not but that's how my mind get's scattered. little projects around my home I will start and stop and I have a billion other things always on the go. That's one of the reasons I haven't blog so much I have been focused on myself. I used to be there all the time for others and that I am to a point still. However as I have aged up with living with 22q I have to look at I'm not going to be around as long as the average joe and if I don't tackle these things while I'm young enough and able bodied enough it will get worst then I will be in crisis mode. Preventitive health care is a huge thing for me and my family. Bella being stable and doing so well has been my number one goal now she is out of that risk stage I can focus on myself my health my personal life goals. Work, drive and friends with real people out in the world not just online. I post and share this in hopes it encourages other moms or parents to take a look at their own heath needs mental physical and spiritual health needs as that all needs to be in balance if it's not we can take on other peoples problems get sucked into others unnessary drama and start to spiral backwords. I had a gyno appts and have come to the soultion that it's time for me to get my tubes removed.

I love my Bella she is amazing but I have to look at the facts. I am 35 with a genetic disorder and a ton of health issues associated with having gsteroparies and my pregancy was not an easy one. Is an understatement I had all kinds of high risk complications due to my own health issues and such I had been inpaitent at a few mental hospitals after Bella was born. It took 3 attempts to really get the help and treatment. I went though Dbt, cbt and all kinds of expsoure theraphy for the abuse I endured. As a new mom I was sleep deprived and fearful my child would pass away in her sleep like my 6 year old brother had. Sometimes I get a little panic when Bella gets seizures but she hasn’t had any in years thankfully. The passing out spells are gone I used to get such bad panic attacks I from the ptsd flashbacks my world would crumble and I used to self distruct. I have been better for 10 plus years now. I am so thankful to all of those who have helped me and tought me self confidence, self control and healthy boundaries. with out any of that I wouldn’t have the skill set I do to help mentor other parents I would not be here even.

looking back at how far we have come I have come and grown as I have aged has helped me realize that I was given this mountian to show others how it can be moved. I often meet others who are going though simular things I have in the past and I’m now able to say yes I have been there got the Tee shirt this is how I managed to get things better. I was never really able to express into words how that journey looked for me. I wasn’t sure I wanted it out in the world that I had over dosed on medications and that’s how I got the help I didn’t want the first time or the second it took the third time of treatment for me to really get it. that was over 10 years ago. I was ashamed of my past but being in a recovery at church has open my eyes the 12 step program has helped me realize that no I don’t do drugs, drink or smoke or anything else but food comfort and social media was there to fill a void that void was I felt indeaquate never felt like I belong or good enough for anyone. Friends come and go and been shady or flaky at most I would get used easily by friends and then dropped as soon as they got what they wanted form me being resouces or a connection I have had in the 22q world or writing world. I was seen as not strong enough to stand up to any of these people who used to try and tell me how to live my life. My logic now is if they don’t pay my bills there voices don’t matter. It’s taken a ton of work to get to where I am and this treatment is finally the last steps towards freedom I have been craving. Learning to drive now that my passing out spells are gone, discovering how am I going to start working full time once I’m finished with treatments and surgery for tubal removals. How to cope with others who feel they have to assume and say this that or the other thing behind my back with out coming to me first directly from the source. Attending my weight loss group and working on that has also helped.

That’s all I have been doing working out, writing my food down, so now I have the time with Bella in school to write and blog but thankfully there isn’t much to blog about with aspects of 22q life except to update everyone on this moms going to take care of her self for once with my husband by my side of course but I have been taking care of everyone for 10 years. Now it’s my turn.

I want to loose wight for health reasons as well and have been working hard with my husband together and doing so. I'm in complete recovery and able to fully enjoy all life has to offer. I look forward to sharing my personal journey and meeting others who have simular issues who are experiencing some stages in life like I am. I'm almost an empty nester now that the older 3 step kids are young adults. Bella is 11 and will be entering middle school soon. I have no more excuses not to take care of my own health even insurance isn't an issue any longer. My appts so far has been one with the gyno to talk about the tubal removal and I was approved so that will happen soon.

The other is with the mental health I have kept stable but I want to drive and be able to handle working a full time job. There is a lot of life changes happening and sometimes no any time it's okay to talk and get the treatment with out having to be in crisis. I'm so proud of how far we have come.

I look forward to growth in not only my website and with all of you but in every aspect of my life.

I hope you will still follow along now that I wont be only blogging just about Bella my wonderful 22qtie. I will also be writing about what it's like as a parent to a child with a genetic disorder of it's good bad and messy ways it effected our life.

I will still be working on editing and publishing my own book I have added to it. I am trying to decided if I want to self publish or traditionally publish. Or if I just want to upload it to my website and sell it as it is.

Thank you everyone the past 10 years has been a learning experience both good and bad and I wouldn't trade any of it. Thanks for those who have stuck around and supported us and our journey and still do.

How to self care as a special needs caregiver

 As a caregiver, we can often overlook the burn out factor.
 I became burnt out friends! That is why there have been very few blog posts. I shared a bit about being burnt out before and last week I wrote a post about attending a conference that helped speakers and writers which I found a new source of inspiration.

This blog is about balance and I have not shared about how I balance and manage to live with 22q11.2 deletion syndrome. It requires a lot of time management in all areas of life, physical, emotional and spiritual. I went to the speaker's conference as I mentioned above and I came back home to the reality of trying to keep up with my two bedroom apartment and kids sometimes I only have free time to sit with my husband and fall a sleep on the couch.

I have a bit on my own plate to manage my own health issues I have gastroparesis and it is gastroparesis awareness month so I felt I needed to write about the struggles I have. 

I have adhd and ptsd I have not talked about my struggles with these things and how I am managing those symptoms or even managing. It is because I am busy managing these issues all at once and on hyper alert and on top of most of it. I say most of it the one issue I had with writing my blog posts lately is because of some of the sweet honest feedback and comments friends have given to me after I was on a few podcast I been doing a few different podcast shows because it is easier for the nerve damage for me to speak than it is to type out an entire blog post. I can transcribe podcast post later after my nerve damage heals but many of you have asked where I have been. What has Bella and our family been up to this summer and where are your rambling updates filled with tired typo. That is because I am stepping up my blog and I am starting to work on book writing perhaps in the future you will see pdf files for sale on my website for right now I sit and type behind my computer screen when I get the change to breath or when I get the chance to get away and type it is almost never this summer has gone by so fast and I have been living in the moments and enjoying each day as if it was my last. Life truly is short. I lost my brother when he was 6 years old and he had 22q the fact that Bella and I both have 22q and are doing as well as we are is a huge blessing and I will not take that for granted. Now there are some people who are envious of how well we are doing or think I have it all and I am accomplished I am not accomplished at all to be honest I’m just a simple mom trying to find her quiet place manage the kids and husband and my own struggles with my health issues as well as Bellas health issues. I worked my butt off when Bella was young I cut off a lot of unhealthy social stress from online support groups where some only wanted to bash each other and compete over who knows the most about 22q I’m not about to play that game to say I know more or less than any other person out there. I know how 22q affects me as no two people with this disorder are alike. That includes my father, half-sister, half-brother and the half-brother who passed away we are all dealing with the 22q11.2 deletion in our own ways none of us hear voices in our heads and none of us have thyroid issues.  As they are common on the list of issues that could go wrong like heart issues we do not have any of these major factors to deal with. Other than mild heart murmurs hypercalcemia my gasteroparies and bellas mild cerebral palsy both mine and Bella’s heart are doing okay.

I am not going to justify and list all of the issues we have or don’t have but the one common issue we face is hypercalcemia including Bella. Bella and my levels of all three calcium levels have stabilized our iron levels were low to all of us one that was balance things got easier. Sure we deal with things like Adhd and I struggle with time management. Honestly every mom I mentor with a 22q child or not struggles with how to best manage their time it not like there is a crash course in time management 101. There might be I might make a book about it but some other Billy bob out there might take my idea and make it their own before I get around to pulling it off.

I received all of your encouraging words and emails, as I reply to each one slowly I am coming up with blog posts ideas. I love the one question I get from all the parents I mentor is how do I do it all. I simply don’t if it is something that God brings me to he will get me through it. My faith is my strength and that might not work for some of you but there has to be something higher power other than myself I sure couldn’t do this all on my own according to some people they are shocked I can tie my own shoes let alone speak up and out and advocate as well as I do.


 I am now almost all gluten free elimination diets sucks by the way.
 I find I have more issues with milk vs gluten and lactose-free seems to help me with fewer tummy pains. Still eating soft mushy foods but allowing myself a cheat day here and there. I also enjoy going out now I enjoy friends and time with them and I embrace life. I even did a 5k race this past May with Bella and I am training to do another 5k.

I am slowly healing from gastroparesis it will never go away and could get worst before I get better.
 The flair ups and they have been less and less as I learn new ways to eat and balance life. Stress is a huge trigger. I once had a panic attack so bad that my resting heart rate was at 120. I started medication for that simply because I need to find time to reset and balance my physical and emotional as the two are so inter connected. I didn’t realize that having a panic attack could affect your heart as well. I mean I figured I would have to be 50 or 60 before that kind of stuff affected me.

I am 34 and I have to slow down and eliminate the negative social pressure of the crap that people want to fling online even if it something as simple as a good old political debate on Facebook. I avoid it all. I do this because I need to keep myself healthy distant myself from love one's friends or family members I have no issues walking away from if it becomes stressful for me it not a reflection on who they are as a person it just a reflection on my own personal boundaries what I will and will not tolerate.  As I adjust to this new me my family is also and we talk it all out in the open at family meetings. We have routine charts and rules listed on the wall with natural consequences because sometimes it all to much to keep in my head and in the heat of the moment we can forget about coping skills. I even have a list of things to do when angry or bored on the wall by our routine and chore charts. My apartment is decorated with family pictures as well everyone has a role in the family and all have value and worth in my home.
 I even started seeing a new dr locally for myself vs traveling further out. Sometimes just a few small changes add up over time and looking back a year ago I am not who I was and I see huge growth like I mention in that conference post I grew as a person in two years in my speaking journey but I also grew in two years over my own personal journey and finding balance. I even had a fun girls night out last night while Adam watched the kids and my friends' kids. Adam a trooper. I give props to all of the single parents who are out there dealing with this syndrome on your own with your children who have 22q I don’t know how you all do it.  I only know what works for myself.
 I am feeling much better and now I am working on sleep and routines.
 Sleep has always been a struggle as many of you 22q mommas can relate to.
 When Bella was first born and going through diagnosed stage I didn’t get any more than maybe 2 hours of sleep a night.


 So doing managed care for myself and she became too much and I had let my health slide.
 Now 10 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 drama that stuff and pull you in and suck you dry. The competitive I know more than you are strong in groups and they tend not to be about supporting sad to say not all of these groups are bad and most have good intention but there are 22q haters out there and haters will hate and that’s okay. I’m not going to go out of my way to change anyone else’s mind. I’m just simply sharing what works for me. I ignore the stigma and if I don’t let it be there for me my daughter isn’t going to pick up on it from others either and if they aim it towards her then they are not worth the effort or energy for us to focus no one can say we are normal or close to normal as no one sees all that I struggle and deal with or what Bella struggles and deal with. Why would I want to be remind of the sad angry moments when I can share the positive side and the down low sides but I have ups and downs of this journey and just when you think you have it handled bam something else new comes up on the diagnose journey and we have to learn new ways of management. This disorder is a managed disorder there is no cure and we are all fighting our own journey why make it all the time soap drama when we can go out there and make a beautiful world and help encourage one another.

Encouraging others and mentoring others is why I started my blog to avoid the drama and focus on finding others who are going through the same things.  Who are not wanting to be Debbie downers but want to figure out healthy ways for positive change from a negative stressful often times emotionally unstable process of healing and living with 22q211.2 deletion

I think I am only in three groups now. I was recently asked to help monitor one and I am honored to do so as the few groups I am in are really on the ball and yes allow venting but not whining there is a difference.
 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. Do you remember me considering putting together a website vs blog this is that website I told you all about!

I am also working on a YouTube channel in the future as that’s how media trends seem to go.   Remember it’s okay for self-care so you can be the best you for your kids and family. I am so glad I was tested and treated for 22q issues. Some others hate the fact they were tested because there is no one who knows how to treat because most doctors don’t have a clue what it is still even after all these awareness efforts that are why I share outside of the 22q community an old fashion grass roots system of just sharing about our journey and if it brings awareness that is a nice added bonus. So distance yourself from the negative people who want to hate on you or bring you down and focus on the positive friends you do have and there will be room to make for new connections that will be of support both ways it a give and take that is how you know it is a healthy kind of support system.
 That is my tip for the week.
 What are some of your favorite self-care tips?

Until next time take care and have some fun when you can

Love

Amanda Ripsam

 

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