My worries and concerns as a parent to a child with 22q11.2 deletion

My top 22 worries

1. When I was growing up I watched my siblings struggle with 22q issues from feeding issues to learning and developmental delays. I had none of those issues. I was told feeding issues is one thing I struggled with and seizures and I out grew both of those things. I wasn't tested until I was 21 years old.

2. People think because I have 22q I have special needs. They think I hear voices in my head because that's what experts advice suggest based on a controlled group of people who have mental health issues with 22q. Those people who had mental health issues like hearing voices and seeing things that are not there were not tested until this study. Yet it is being pushed around like it's the bible and end all be all.  There are people who have endrochronic issues like hypocalcuma and a few others who just simply need other forms of treatment then psychotic medications to put a bandaid on a complicated genetic problem.  I do not hear voices, I do not see or hear things that are not there. So does that mean my genetic test was a fake a false positive test? I have other issues that relate to 22q I did not have to deal with until I became an adult. Such as early menapause. I am in the periomenapause stage. Hot flashes are not fun

3. Am I looked at as less than a mom, employee author speaker because I am a adult who looks younger form my age thank you very much vcfs velocardiofacial syndrome that's part of the 22q deletion

4. am I excummicated from support groups because my story and ideas are different then the parents who have kids with 22q am I not relatable because I am an adult with a disablity in their minds. For the adults do I relate well becuase I am a mom and step mom and I have entered the early stages of emptyness syndrome. Our youngest has 22q and is turning 11 on April 27 does that mean I'm not apart of the parent or the adult crews?

5. Where do I fit in? who do I fit in with/

6 I was born to stand out I am rocking my Q and my daughter she while she's rocking her q  notice upper case for adults and lower case for kid's.

7. am I or am I not a 22qtie I'm still cute right ?

8. syncope effects my ablity in driving working passing out will it ever go away? 

9. If doctors keep finding cures for Ed why can't they stop playing with their dicks for one minute and work on real research ? oh right funds money cash

10. I'm vulgar if I cuss I am not old enough or mature if I use a few choice cuss words. I'm Canadian it's what we do when we become passionate and it often will slip out when pissed off. oops sorry not sorry spread the gossip Amanda cusses that's all you have on me go for it.

11. Gossip instead of support prayer chains becoming a way to gossip and not actually do anything productive and focus on the real issues. I'll pray for you. Really? you'll gossip and be all concern about my stomach issues and act like I'm on death's door. Will you offer support if I'm crying in pain from exhaustion of having to be stronger then I really feel?

12. Odn't even get me started on eliminating down syndrome in Iceland will they do that next to all others who have other chromosome disorders once they learn and understand genetics defects  101. Will they realize that 22q is next to downs? We don't look like a downs person so because we can hid our defects under an invisible illness we are of more worth and value? Pro life pro choice is not the issue there is it than? Law of broken ethics

13. Precision med that's all I'm putting about this here who idea was it to start playing God the debated topic the help and harm it does

14. CBD oils a fad or treatment that helpful that the government is trying to make more bank on instead of allowing it to help and do any of the good it can do. I have seen some amazing things from other parents who resulted in learning and using cbd as a treatment however with insurance you have to go though the ends of the earth in order to get any kind of medial assistance with it. The miss use of people doing it just to do it is ruing it for all of those out there who it will help. much more research is needed

15. education employment insurance income all overwhelming emotional garbage we all have to face but with a genetic target on your back saying I have 22q look at me can be harmful or helpful depending on which funding programs you apply for. How seriously you want to be taken based on your talent not genetics

Thank for reading if you liked this post and found it helpful feel free to share with your friends

 

 

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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.

 

Math concerns and 22q11.2 deletion syndrome Q and A

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I had a question in a Facebook group that I was tagged in to help. The question was from a frantic mom who asked my child is 12 years old and has 22q but does not understand the numbers of months or much else about math.

How best can I help my child get to an understanding of these concepts? 

First of all, I want to say there is never any judgment from me no matter the question.

Even though concepts of months and the numbers of months is something a 1st grader learns when they start school chances are there is more to this person's question with out giving a full history of child's condition and how 22q affects this child individually the background general health conditions could have been in the way or the parent is just simply overwhelmed and not aware of choices or resources that are out there. 

  Children with 22q are often judged because they are behind developmentally not all 22q children are behind like this one reader child is by the way I was not. My daughter is only behind by a year which we found out by using a neuro evaluations and that is what I am going to suggest to answer is find a neurophysiological doctor who can do a full assessment of the child's abilities.  

My first suggestion gets an over view and an assessment of what is all going on not only with the child but also in the home environment and other factors that could be playing a role here in.

What is a neuro eval while they do an entire day of testing, in fact, Bella just went through her second one. Bellas first eval was when she was 5.  At 5 years old we had a treatment plan in place we knew Bella has physical and emotional ADHD. It was hard to tell what was typical 5-year-old behavior choices and what was something to be concern about it is easy to be missed if you do not know what you are looking for. 

I knew what to look for because I knew I had this disorder and I knew from my personal first-hand experience from watching my siblings with 22q growing up struggling that chances are my daughter might have a lower Iq level. I am glad to say after testing we found out that Bella Iq is in the low average range not to be confused with below average. Low average means that what she learns takes a bit of time so kids in her 4th-grade class who don't have 22q or other issues will pick up and understand 4th-grade concepts at the age and time line that is typical. In Bellas case she will pick up on what they learn the beginning of the year by the end of the year she will meet these goals and that is the major reason we have an Iep in place to meet Bella where she is at.

The second time around with testing we discovered that her Iq goes up and down depending on the time of day. Bella was asked what valleys were and Bella looked at the lady who was testing her funny and a few hours later in the after noon the doctor lady asked Bella the exact same question and Bella explained in very visual detail which prompted the doctor to want to do more testing. It was a long day.

  The trick is not to push and expecting Bella to meet goals when she should be but let her meet them on her own terms with guidance and support love and understanding she may feel is too much of a reach if you push to hard and dig in which I learn the hard way. Or if you let her lead and guide you and you meet the child where they are at vers where you want them to be at it all gets easier with time. 

With keeping this reader in mind what we would do is get a calendar from dollar tree or where ever and label each of the months with a number and over the year you say to the child Jan is the 1 month of a 12 month calendar year. You take each month and then count Jan 1 new years feb 2 which is my birthday march 3 is spring april 4 which is the best month ever that's when Bella was born as you can see I am doing an association with each so they remember April is the 4th month in which Bella was born.

That is how I did it. I would never expect the school to do all of the work either. I am always helping Bella with home work and I go over it and because Bella is a very visual learner I break math questions that are word problems into visual stories and modify it.

show Bella the process of how I do it and she is starting to understand and grasp word math problems which are something that took me for ever to understand because I did not have all of the wonderful help and support that Bella has. It will be a lot of repetitive and extra work but once we lower the expectations of the child and learn to meet them where they are and not push them down to where they can not rise and move forward with meeting the goal they develop confidence and know they can do things just need to do them modified. I also found that counting blocks help and number lines and charts help also a time table helps.

Any visual aid you can find get it there are a lot of extra resources on Amazon you can buy for super cheap in fact that's where I get most of my products from is Amazon I can search what I am looking for and chances are there are other people who need the same things

I hope this helps answer more in-depth and always talk with your child's doctor about if they know of any additional resources and services may be an in home helper can come in and assist.

If have any questions feel free to leave a comment below.  I would be glad to help answer any as always if youi found this helpful leave a comment like and share.

 

 

 

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

 

My 10 year old is chasing down 22q and cerebral palsy running a 5k here is what I learned.

Hello everyone,

 Over the past 10 years, Bella has taught me so much about the world, life and even about myself through her eyes.  

 Bella turned 10 this year, in fact, she just had her double-digit birthday April 27 and that is a huge milestone to achieve in any kid’s life.

As you know Bella is in Girlsontherun a program right here in Sw Michigan in Kalamazoo

Bella was lucky to be able to participate she loves the top, water bottle and the shoes they give as part of the deal when you sign up. There is cost but they have scholarships as well.  I encourage Bella to sign up for things she is interested in to help develop her social skills one of the issues she has with having 22q deletion syndrome.

Most 10-year-old kids are reaching goals and milestones and developing their skills in things they like and dislike such as hobbies, self-expression through fashion and developing a self of self-worth and self-esteem. Bella most favorite past time is starting to strive for independence and driving her mom that's me crazy! while she is starting to enter puberty and learn how to cope and handle living with two different disorders she seems to think she the boss because it is the one thing she can control in a world she has to deal with so much she can not control.

One major issue we deal with daily is 22q11.2 deletion syndrome which I also have and I can have inside first-hand experience to pass on to my daughter. The other disorder Bella has is a mild form of cerebral palsy which I am just learning what it " looks like" I have friends who have children with cerebral palsy but they use a cane or a wheelchair I only know one other person who has a teenage daughter who has mild cp and she does not look like there is anything different just like Bella looks like there is nothing different about her.  I am learning all I can about cerebral palsy with the help of doctors but mostly from people we met. I know our challenge is we are learning how to deal with peers her age who pick up on there is something different about Bella but they can't figure out what usually the sweet ones ask me about Bella and are patient with her and want to be her friend and include her which makes me so grateful that Bella has a small group of friends. Bella struggles with the day to day task of staying focused due to ADHD and issues with things such as homework has been much easier to handle. We do face challenges together hand in hand or side by side I may not always blog or post about every single piece we deal with because this is our journey and have learned that not everyone wants to read about the sad stuff all the time. That's why I am writing about our joys more often than our sorrows because I want to remember the good stuff. I do journal the hard stuff but we have had easier days over the years with fewer doctors visits now that Bella is older we don't see doctors as often as we used to for her. This past year Bella has grown so much we have both been on the verge of tears out of joy, fear and yes even anger with one another as we challenge each other to do our best to overcome our own struggles.

 I can’t say that I don’t pity my poor husband as we discover this journey together and he left scratching his head most days trying to find his footing in our girly midst of sometimes it seems daily power struggles of trying to tell Bella I’m not her friend I’m her parent. Oh, the joys of pre-puberty and now entering puberty at a speeding rate I can’t seem to keep up with the daily challenges all on my own.   I seek help and ask my husband to step in but not sure where we find time after for one another as we struggle to connect from an exhausting day of trying too hard to be the best parents we can be.  If you saw my Facebook post you would see that he starts a new full-time job in Grand Rapids, Mi.  Which means less time for romantic dates and more time for the have to and the daily routines of the day in and day out the lifestyle of parenting.

In the mix of all that goes on around here, Bella needed an outlet a place where she could run and burn off her pint up energy and she found it in girls on the run a program for girls who train together to run a 5k. You read that correctly Bella is training to run a 5k if you are on any social media accounts I have you would have seen the weekly status updates of how many laps Bella did today while this week we are nearing the end we did the first practice 5k. Bella is a fast runner and kept up with the older girls while I lagged behind and helped the kids cross the street I had an idea to write this blog post because I wanted to share a part of our journey and the amazing thing my daughter is doing at 10-year-old with all she has overcome and has to manage she has shown me yet again that there is nothing we can’t achieve. I haven’t run in years but I did attempt to I made it down one street and was huffing and puffing and realizing how out of shape I truly am but she is inspiring me to get healthier.  As Bella grows learns and develops into the wonderful women she is becoming I am seeing challenges we face in a different light.

The one thing I signed Bella up for to help with some of this is girls on the run the doctors suggested to keep Bella's legs stretched out is to have her stay active be it by riding her bike or with the use of running or jogging. Bella has ADHD as another hurdle she manages and all that energy she has no idea what to do with is different it is the focus and centered when she is running. When Bella runs, she says she feels light and free like there isn’t anything she cannot achieve.  When she runs the fears, I have for the future slip away and all the doctors’ visits, sleepless nights and struggles we have overcome are all worth it.
Sometimes It does get Better after all.  

many people don’t know what someone with “mild” cerebral palsy looks like. What do they look like? If it weren’t for medical devices, would anyone be able to tell?

 Did you know cerebral palsy is the most common motor disability in children? It affects approximately three live births out of every 1,000 in the United States. Bella also having a rare genetic that is not as common as cp a different disorder called 22q11.2 deletion syndrome is another disorder on top of cp that seems to amplify the mild form of spastic cerebral palsy that Bella has.  Both are total body disorders to learn more about 22q please check out the what is 22q on my website.
Do you have a person who inspires you in your life to keep pressing on when times are hard? I sure do that’s Bella

If you want to see video of Bella running click on the youtube video and don't forget to subscribe to this website (purple subscribe button on top right page) and you can also subscribe to our youtube channel. Bella plans on making more videos and wants me to record her running in her 5k race.

 

 
Will you be there to help cheer Bella on ? Let me know in the comments below.

 

Thanks for reading if you like this post please subscribe

Will you be there to help cheer Bella on ? Let me know in the comments below.

Will you be there to help cheer Bella on ? Let me know in the comments below.

 Bella

Bella has 22q11.2 deletion syndrome and mild form of cerebral palsy and a few other symptoms that combine with 22q .

for more info on what is mild cerebral palsy please visit. http://yourcpf.org/ 

for more information on 22q11.2 deletion please visit http://www.22q.org/

Thank you for reading and helping spread awareness about these two disorders.

If you would like more info just leave a message in on the contact me page.