Welcome to my 22q life. What is 22q?
First I wanted to say hello and introduce myself and say Hello, my name is Amanda.
I am the founder of the website called Mommies Quiet Place.
Mommies Quiet Place is a website about the journey living with a genetic disorder called 22q11.2 deletion syndrome.
My husband and I relaunched it this week we could not be happier with how it turned out.
I wanted to take a minute to explain what 22q deletion is and how our journey with 22q started. Any of my friends who I have spoken to outside of the 22q community will ask me
What is 22q I've not heard of it? What is it?
It is a question I get asked a lot about from teachers, nurses and yes even doctors. I am always happy to give an explanation in easy to understand terms to anyone who ask What is 22q?
22q is a short nickname for 22q11.2 deletion syndrome. A small piece is missing in mine and my daughter dna on the 22 chromosome.
Were all born with 23 pairs of chromosome including x and y between x and y the numbers of chromosome are 1,2 and so on. We are missing a piece of microscopic genetic material on the 22q chromosome.
It is a total body disorder that effects each of us with it differently, even members of the same family.
The next question tends to be I'm sorry to hear that. So it's genetic too?
People who have it have 50 50 chance of passing it on. Sometime it happens with no other genetic family history and only one person is affected.
I have a very detail description up of what 22q is on one of my pages in the menu bar but not a full example like explaining it to a friend.
In fact, it was a conversation with a friend on Facebook that sparked this blog post and I thought what a great introductory post
My friends next question was
How did they find out about this condition? I find genetics really interesting!
This is how our journey started…
My brother had a seizure after eating turkey at Christmas one year and my dad and step mom took him to the hospital. The dr couldn’t find out the cause so they did a genetic test called a FISH test where they shine light on his blood sample. My brother he tested positive for 22q11.2 deletion syndrome also called DiGeorge syndrome sometimes called Velocardiofacial syndrome and a few other names. The name all depends where on the 22q strand the dna is missing. My sister was born they tested her she was positive for it too. My dad and step mom had another child and he too was tested positive. My dad then got tested and he was tested positive. Myself I was tested when I was 21. There was no rush to have me tested I didn’t have many symptoms, when I met my husband we wondered if I too should be tested if we decided to have a child together. I tested positive. My daughter was born when I was 24 and she too tested positive. My younger half-brother passed away when he was 6. I share the ups and downs and give a glimpse of what living life with 22q is really like.
Welcome to my 22q life! By Amanda Ripsam