What I wish I knew before I found out I had 22q

What I wish I knew before I found out I had 22q

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It been ages since I did a rant blog post!

I call this what I wish I knew about 22q because even after all these year efforts of research is still unknown of how this affects us who have 22q.

 There can be a bit of variability between each of the conditions. Such as 22q11.2 deletion can be a trisomy or there can be chd or no chd. You can have thyroid issues or no thyroid issues. You can have learning speech hearing heart issues or none at all. I wish I knew and understood that no two people with this disorder are affected by it in the exact same way no matter how hard I searched for answers and asked others who have it or have kids with it I always found out there are some similar characteristics but not all of the exact same symptoms and even if we had the same symptoms as someone else there are for different reasons.

I knew what Digeorge syndrome was but I did not understand velocardiofacial syndrome until a few years afterward I did not understand the basics of genetic 101 I can now probably teach a seminar class on it.

I did not know there is an entire country who wants to wipe out rare genetic disorders and completely get rid of anyone who is a big quirky odd or different with how God formed them. I did not understand why parents were shocked when I could raise my own family when I told them. I did not understand the hatred of people who have this disorder but yet claim their love for their own child they too will have a child who grows up one day to be an adult like myself.   I also did not think parents would never want their 30 year old live on their own and be functional adults in the real world I didn't know why parents were so over protective until I had my own child. I will not limit my daughter like some of the parents I know and have ran into but instead, encourage her where she needs encouragement and help her by nurturing her independence no matter how stubborn or strong willed my redhead has become at 10 years old. I am so thankful for her stubbornness because that is what got her through all those years of multiple doctors visits her leg braces and her dental work. That what pushed us past our limited views of others to help us reach our potential we ran a 5k together not many normies can say they did that. 

I understand now the fear is the unknown and the hate is not hated but it is grief it a loss of life they thought they were going to have. I get it I have my own daughter who has it. I too experience all of the awful mixed up emotional feelings that come from having this disorder but I did not allow my self to stay stuck. I educated myself and I am educating others so they know what to expect once knowing what to expect they can be hopeful that is the worst case or they can hope for the best case but either way there is hope after knowing what they are getting into.

Feeling pretty lost scared and confused is a typical day to day functional normal for us none normies who are trying to figure life out. Adjusting to routines and schedules is a challenge trying to manage just a two bedroom apartment can be a chore for someone like myself but here I am doing it basically wiping my own butt. I am shocked that others are shocked that I too can wipe my own butt and look after myself and not only look after myself but after others as well. I am a wife mom and step mom some define what I do a success

I am not impressed one bit by being someone inspiration simply because I am stand to own my own two feet and get up each day and do things that I have to do. I get some people can't I really do get that but to label that all of us with 22q can't do that is unfair and it is already setting more limits on the limits that are already in places. Screw the limits set by others is what I wish I knew!

 

I have anxiety and Adhd and ptsd but most days are good days medications are little because after all these years I have coping skills and things set in place I know that will help. such as sticky notes and how to guides I use a binder system to keep track of everything. I also have a binder for everything I really wish I knew about this binder system that I use. It would have made high school so much easier.

I wish my passing out spells I had in high school were vaggo vessel and that I just had to take this pill for and it would all go away. It does not go away with just a pill I wish it did.

It can be scary to hear your child has a genetic disorder. It can be scarier to know you also have the disorder what is even scarier is knowing you have a disorder and having a child any how because hey life happens and birth control is only 99.9 effective.

I see these worst case scenarios in support groups and such and watch others just stare and hear crickets when I write a post about the good stuff but when I write about the bad everyone comments. I wish I knew I was only a relatable human being by sharing about my stomach filar ups. I would have written a blog post and shared pictures of every time I picked and hugged the toilet bowl I wish I knew you all would cheer me on for that. I wish I knew what I needed to do to be part of a support group to be a team player rather then having to create a blog and website and from my own tribe. I wish there was a tribe for me where I could fit in but it is what it is. I wish I knew life is what it is before life got all messy by my trying to fix it and help others.

I wish I knew how to handle the stress from the nonstop specialist and pt and ot appointments we had to attend and that I had to attend while I was pregnant and after. If I did I would not have ended up in a 72 hour phyc hold with an over dose of Ambien just by mistakenly trying to simply sleep because my brain wouldn't shut down. I wish I knew how to write about that moment to help others to prevent others from going down that path that I did. I wish I knew about 22q.

I wish I knew my brother who passed away from having 22q at 6 years old. I wish I knew what I outlived him. I wish I knew why God takes the little child and not me. I wish I didn't have a second hospital trip for a medication over dose because I didn't know how to process grief I didn't know how to deal with my father who disowned me who has 22q as well. I wish I didn't learn these coping skills from my step mother who enjoys attention seeking behavior choices and takes tynole by the bottles when life gets too shitty for her. I wish I understood mental illness when I was a teen.

I wish I didn't have to have a complete mental break down after I had my daughter when she was 1 and another when she was 2. I wish I knew I had ptsd do to the major abuse and neglect from my parents. I really wish I didn't have to hold all of this in until I was 25 years old. I am 34 years old and I really have only enjoyed living life since that last trip to the mental hospital. I am recovered by the grace of God I understand why God allows bad stuff to happen to good people I didn't know then I wish I knew that too why God allowed 22q. 

I know now I know from the bible study's from the medication from the teachings from all the years of hard work in therapy. I wish I could pass all of this knowledge on to others so hey don't have to feel so crappy about having 22q or living with someone who has 22q but what I know is people are going to do think act and feel how they want and there is nothing I can do to change that. I also wish I knew I would make and lose friends who have 222q based of what others perceived about me. I wish I knew all of this about 22q

I wish I didn't see this from a parents perspective and also somebody that suffers from it. I wish I knew all of this about 22q.

I wish I knew that insurance did not cover anything related to my daughters health condition and that having children's special health was useless because Medicaid will cover generics of what she needs.  I wish ssi knew what 22q digeorge syndrome was and that it not going to get healed because she can speak. I wish I didn't have to appeal ssi or have to deal with ssi every time we tuned around but only one of us can work because I have no ablity to stay at a full tme job with the ups and downs of my own illness. I wish I knew there was more support.

I wish I knew all of this about 22q.

What do you wish you knew about 22q ?

 

 

 

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The need for Self-Discipline

Hello everyone, it is nice to see all of you!

Have you ever felt like you were on the outside looking in?

My name is Amanda Ripsam I am 34 years old and look younger than I appear.

I am often told I look no older than 15 and too young looking to have children at the age the kids are. I live in Otsego, Michigan.  I have 4 kids, three out High School and a 10-year-old daughter named Bella. I share mine and my daughter‘s adventures living with 22q on my site mommiesquietplace.com.

I was originally born and raised in Toronto, Ontario, Canada.

I have a unique perspective living with 22q11.2 deletion syndrome as it also affects my daughter, 3 of siblings and my father. There are over 180 conditions that can appear in a person who has 22q from heart issues to learning delays and all in-between. There is no cure and it is a managed condition. I was diagnosed with 22q when I was 21 years old.

Today I am 34 and I am a parent mentor and special needs advocate and have my own website that I use to help walk others so they are not feeling alone and isolated like I was feeling. I formed my own tribe. When I couldn’t fit in with anyone else tribe!

Living life with a rare genetic disorder is like running a 5k race! Recently I shared on social media that Bella my 10-year-old with 22q and cerebral palsy and myself ran into the girls on the run 5k race in Kalamazoo, Michigan, I posted at check in points on my website as my daughter left me in the dust running as hard and as fast as she can with her coaches.

With 22q there are no coaches!

My goal for my ministry is coaching others through life with special needs children who face challenges like 22q.  My passion is mentoring other people so they don’t have to walk an unknown medical mystery journey without a coach cheering them on!

My training for 22q was my own journey and watching my siblings endure life with 22q and my 6-year-old brother passing away from complications of this disorder. I was well informed and trained before I had my own child.

Climbing the hills of the battle against 22q and beating this illness one symptom at a time often makes life feel as though you have been clawing your way running up that steep hill at the 2-mile marker during a 5k race. I am sharing about our race because even with Bella having a secondary disorder called cerebral palsy I am enduring and persevering through our struggles with this disorder while overcoming other challenges our family faces day to day.  I can describe that our adventures are like the feeling it feels after the 2nd mile in the race and you just have to keep on going no matter how exhausted and jelly like your legs feel. 

To get to the 5k finish line you have to push through being worn down. 22q can make you feel worn out and burned out. Learning about any medical condition can and will take it toll on a person physically mentally and spiritually.  I share on my website how I try to balance life one step at a time.

Life with 22q is just like the 5k race.   Just when you think you’re almost there at the second mile you look up and see you are not done yet, but you look down and see how far you have come!

  This passage has been a source of strength and has helped get through this journey.

1 Corinthians 9:24New International Version (NIV)

The Need for Self-Discipline

This is the verse that has helped me keep on pressing on

24 Do you not know that in a race all the runners run, but only one gets the prize? Run in such a way as to get the prize.



 

Neuropsychological evaluation and our 22q experiences 2017

For those of you who have asked about what the neuro eval was about this week that we had for Bella on Tuesday.
Here is some more info for those of you with 22q who would consider doing one for yourself or your children.
Anyone with a genetic disorder is suggested to undergo a
Neuropsychological evaluation
Bella had one done at 5 years old and it has helped guide us through her medical appointments and IEPs at school. Bella has physical and emotional ADHD and sensory processing disorders as well as a mild form of cerebral palsy so this is our road map for treatment plans we put in place to keep our Bella as healthy as she can be. I only wish I was able to get this kind of test done as a child and that my parents knew about this disorder.

Here is blurb about what (NPE) is a testing method through which a neuropsychologist can acquire data about a subject's cognitive, motor, behavioral, linguistic, and executive functioning,
A neuropsychological evaluation is a comprehensive assessment of cognitive and behavioral functions using a set of standardized tests and procedures. Various mental functions are systematically tested, which may include but are not limited to Intelligence. Problem solving and conceptualization.Neuropsychology is concerned with relationships between the brain and behavior. Neuropsychologists conduct evaluations to characterize behavioral and cognitive changes resulting from central nervous system disease or injury, like Parkinson's disease or another movement disorder. In Our case with Bella, it was for 22q11.2 deletion syndrome as having the missing piece of genetic material causes all kinds of miss communication to our body's mind nd body connection. Overall health and physical and emotional performance.
I will write more of what we found with Bella after we get the report from the doctor in two weeks. I will also take you along our journey of her treatment plans. You will want to subscribe to my blog and this facebook page because I only write about this stuff on my blog for my subscribers to keep nosy gossipers away and fear mongers away to protect myself and my daughter. I hope to see you over on the blog and follow along on our journey
On my personal facebook, I did a few updates during our appointment experience.
We had ours done at mary free bed in grand rapids mi and it was from 8:45 am until 5:30 pm an overall full testing takes time and it was a long day but so worth it. Our insurance was accepted at Mary Free Bed in Grand Rapids, Mi
We were referred to get this test from u of m yet at U of M this test was not covered by Medicaid or children's special health because U of M simply is not the open network for Medicaid or children's special health.
at mary free bed under Medicaid children's special health it is covered so that is where we ended up going they are in network for the psychological department. I had to search and find a different place to take her that would accept our insurance. We did have to wait a while and get this done closer to the end of school year so Bella didn't miss a lot of days because after this test we will have multiple doctors visits to different specialist at mary free bed week after week which in high insight having the specialist in grand rapids is a blessing rather than having to travel all the way to ann arbor for all of the other specialist. Having a child with special needs often requires multiple trips to special doctors and we have had to go to Grand Rapids, Kalamazoo and U of M to find doctors who knew what 22q even is
I hope this helps some other parents so they don't have to go through what we have had to do just to get one test done that is so desperately needed.

Here is how the neuro eval went and how long of a day we had waiting in yet one more waiting room.

. They have this room called Quiet it's their quiet room. It is perfect for using laptops and just enjoying the Quiet this place is busy too. This room is where I wrote this entire blog post.  I had lots of hours to find info to share with everyone and felt that sharing our personal experience with our child might help another 22q parent who is going through or considering how to go about having a neuro eval done for their child.  By the way, Bella had a neuro eval at 5 years old and was first diagnosed with ADHD both physical and emotional and has been on medication but as she has hit puberty it is time to adjust medications and further treatment as we have seen anxiety issues as well as sensory processing issues. 

The day started at 8:45 am and we finally ended at 5:00 pm. We talked, we walked, Adam slept his chill factor is on point maybe a bit too on point I had to get up, and I walked some more.  I would have listened to my snoring husband in a quiet room. I become restless in waiting rooms even though I have sat in millions of different waiting rooms it always on the edge of the seat feeling for me as a mother to know my child is being tested for yet another test a new treatment plan, which means more changes in the future for all of us. Bella had come back to us a few times and took mini ten-minute breaks to sit with us and color or just stretch her legs and go to the bathroom. Then we took a long break for lunch come back for a few more test.

Here are some pictures of our day

 

 

 


I want to know have you or your child ever had a neuro eval?
-Amanda