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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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

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.

 

What is life like for an Adult living with 22q vcfs digeorge syndrome?

What life is like living with Velocardiofacial syndrome called 2q11.2 deletion syndrome Digeorge

I was born on February 10 1983. My husband is 11 years older than I am. We met online through a mutual friend 11 years ago and last Feb 23rd we celebrated 11 years being together. Dec 29 we celebrated 8 years of marriage. Husband is 44 and has three teens entering adult hood. Adam and I have an 9-year-old girl named Bella. Just giving detail as my story continues.... it is the numbers that shouldn’t matter that do matter. Let me explain that living with velocardiofacial syndrome, a mild form of it, has its moments that make me wonder often why me? My young appearance is one of the things about the disorder I would like to change.

Adam and I went shopping for clothes for my 16 years old step son. We also picked up a few things for our 9 year old. At check out the cashier, an older lady, looked at me and felt I needed to be informed of my misfortune of looking too young to have given birth to an 9 year old! If her jaw could have hit the floor it would have when I handed the lady the sizes of boys pants and explained who these were for. I think she might have had a heart attack from disbelief or she thought I was making up stories. Then lady notices my husband coming to the register with more items. Cashier lady had a conversation with my husband while he was picking out boy’s clothes earlier and it clearly didn’t face her we were a couple! I was picking up girl clothes on the other end of the store. I wonder why she didn’t feel the need to inform him of how young he looked or even mention how young I looked to him? 

Not only did cashier lady feel the compulsive need to inform me of how I am too young looking to have even been a mom, she was shocked I managed to get married too.... In her good for you tone.... I kept quiet. 

I was rather calm about this moment then I have been in the past when others have said the same thing to me. I can tell you I have been there and done this before... oh I am so tired of it all the time.

Many times different people told me l will appreciate it when I am in my 30s. Here I am not appreciating any of this! Not at all. When does grey hair and wrinkles start? and how long before I start to age? I used to get teased in school too for looking younger.

I also have said something snappy in the past and would have asked for an apology.... I did not say any of those things. Instead the me today at 33 has dealt with others before who felt the compulsive need to inform me of how young I look. I remind myself to relax because I look young and it could be worst... I could always have had no ears to hear this lady.

So…
This time my response to her was: That is how life works! Funny, isn’t it? How I am not formed to fit your image.

I left with the lady to ponder what the ?

I was un effected, I didn't allow it to ruin my day like comments would have in the past. I’m liking this confident me.

Numbers do matter when you have a genetic disorder as an adult. I have 22q velocardofacial syndrome and not everyone I meet needs to be informed of my genetic disorder because it is not what or who I am. I didn't tell her: 'oh it’s my missing chromosome making me look young...'. I wasn't ever going to run into this lady again. I don't plan on returning to the store either.

I blog and help others but I personally am not branded with 22q across my forehead. I am so much more! 

Thanks for reading. -