A lot of fears come to a parent when they hear the words there is something wrong with your child and it’s a genetic piece of dna that is missing on the 22 chromosome.
An estimated 180,000 people are born each year with 22q11.2-deletion syndrome and 120,000 of them are never diagnosed.
This is a genetic condition" (second common to Downs) "with over 180 possible symptoms which could include heart, lungs, kidney, failure to thrive, failure to grow, feeding issues, nasal reflex, VPI insufficiency, speech or lack thereof, developmental issues, many issues that are misdiagnosed as Autism, ADHD, behavior, significant motor and learning delays, apraxia, GI issues, orthopedic issues, VCFS, folded ears, low set ears, small mouth and jaw, to name just a FEW. My daughter has many of these symptoms. They are however mild. I also have many of these symptoms I’m 36 and appear much younger looking. I suppose the fountain youth can be found in the 22q deletion gene"It is as common as Down Syndrome, so why have you never heard of it?! Google it! Let's change this by spreading awareness!" (Wikipedia): "Velopharyngeal insufficiency (VPI) is a failure of the body's ability to temporarily close the communication between the nasal cavity and the mouth, because of an anatomic dysfunction of the soft palate or of the lateral or posterior wall of the pharynx.The effect of such a dysfunction leads to functional problems with speech (hypernasality), eating (chewing and swallowing), and breathing. This gap can be treated surgically, although the choice of operational technique is still controversial." VPI surgery is a common issue among those with 22q I take Bella to U of M here in Michigan at the Mott’s Children hospital since she was in kindergarten we see a team of specialist and doctors we have to travel for our specialist Ann Arbor, Grand Rapids (Mary Free Bed) and Kalamazoo, Michigan what dose not help is the doctors up and leaving changing positions, Insurance coverage issues and the fight to keep my daughter school grade up while she misses school because of these doctor visits. Yet even the school professionals do not under stand what 22q is because while medicated Bella looks and appears like all of the other kids. Bella even sounds like them as well. The school does not understand why we can’t book an appointment for after 5pm while it’s because your family doctor down the street probably has yet to hear about what Di George syndrome or 22q is and spreading awareness outside of the 22q community is my passion.
If you have a doctor who does not understand what digeorge syndrome 22q is wouldn’t you travel to get the best care for your child?
My daughter is main streem with an Iep and is going into middle school next year we moved her from a level 1 to a level 2 and that took a while to get the school to finally understand all that Bella has going on. Bella school journey and doctors visits were all on a blog I used to run with this same domain but I am taking those and creating a book to help other’s cope with the complex nature of all that is 22q Di-George. Not only does my daughter have 22q but I do as well. My family is one of the rare family’s where all of us were tested for Digeorge. My father has 22q, my 3 siblings have 22q. One of my siblings passed from complications. I grew up in Toronto, Ontario where tests were not as costly so it was easier for us to get tests results there vs having to pay the nearly 5000 for a test here thankfully Bella insurance covered it.
Knowledge is hope awareness is key
I decided to create a safe place back before I got married with a few friends I connected with who also have 22q and children with 22q we wanted a place where others can connect and find each other it first started out as a social group on Facebook for support. I then had Bella my life turned into something more. I knew my purpose was to be an advocate for the unborn to get newborn screenings in place. I discovered that after I had my daughter in Grand Rapids Michigan and the medical team and their students were asking me questions observing me like I was this genetic freak of nature. I was born with this yet it’s almost invisible you would just think I look very young for my age.
I took a break off and on breaks from social media because moms of 22q were spending time bickering over a name over the terms that people could and could not share their story and who and who wasn’t in the in crowd. I got tired of the drama and wanted a place of my own on the internet but then so did so many others.
As an adult with Digeorge and as a Mom who has a child with Digeorge I also needed a place where I felt like I could get that support which is vital really. However it wasn’t out there for a women with 22q and a child with 22q as well.
I created this website out of passion love and the strong will determination that has kept me going all these years I am in my late 30’s and put that towards helping just one other person know they too are not alone be it adult, mom, adoptive mom, foster mom or dads.
There needed to be an all inclusive place that just isn’t out there for those of us who have 22q.
I started writing out of fear hopelessness and on bed rest while I recovered from a Mallory wise tear and bouts of gasteroparises flair ups that I didn’t know how to manage at the time.
I also had a place to brain dump about the multiple doctor visits my daughter was having and continues to have.
I wanted to share her journey in-case one day I forget how for our family has come.
I had high risk pregnancy and complications at Bella’s birth that led her to have mild form of cerebral palsy.
I am a rare family in terms that the uncommon genetic disorder we have my father and 3 other siblings have as well as Bella and I so 5 of us with 22q. One sibling past away when he was very young. I have seen the good bad and ulgly. It’s shaken my faith. I’ve been to the bottom and back to the top only to back to the bottom and some place in between.
One day I decided to journal out my feelings thoughts and experiences I just never stopped.
I spend a lot of my free time working on my website from scratch, particularly photography/videography, social media, and blog posts.
I do have my husband help with the securing of my website after the word press hack I had.
I am building my platform from scratch as well this year (2019) I started blogging back in 2013 but I was blogging for the wrong reasons and my message was getting jumbled.
So in 2014 I decided to launch Mommies Quiet Place I spend a lot of time effort and money into my domain and I hope to one day publish a book with my story
My story is about how one family copes with 22q11.2 deletion syndrome (DiGeorge) or 22q for short and multiple health issues that came with the genetic disorder.
I love connecting with other family's to share—the good, the bad and the unbelievably messy. My husband says” Your the cross between the artsy high tech mom and the hot mess mom you meet next door.” remind me to thank him. We are celebrating our 14 year anniversary together.
Why are the kids and hubby's are so messy? how I manage my home. Life skills tips and tricks.
What is 22q?
A common comment I often get is that I look much younger then my real age.
Spoiler: My answer is “That’s because it’s in my genes. I have 22q deletion syndrome.”
My first hand personal experience of having 22q myself as I raised the child my hubby and I created.
Read on for insight and advice from my personal first-hand experience and connect with other moms who've been in the trenches.
Here are some of my passions:
chocolate, coffee☕ and Books 📚
enter contest/ giveaways
hunt for freebies
working on writing and someday publishing a book or two
attending conferences and workshops
Worshiping our creator.
I won’t preach at you though ever. I do write devotionals, if you are interested. I write for parents of kids with special needs.
This blog has been up since 2013 and I have helped many other people who have children with 22q.
I have also help guide young 22q adults start their blogs to help encourage them to share their stories.
Knowledge is hope awareness is ke