How does 22q affect in day to day living?

How does 22q affects me in day to day living?

I shared what 22q11.2 deletion is on my site. This blog post is in a response to a readers question as it is a question friend’s ask me about in person and online.

22q is an invisible disorder almost like an invisible illness. You can’t look at me and see 22q deletion like you can look at someone with down syndrome and know somethings up. 22q effects the total body from head to toes. I like to explain how it affects me by stating that 22q represents the missing piece of chromosome material inside of my body’s dna strands. Just like x and Y Chromosome tell us if we will be male or female Chromosome 22 tells our bodies how to operate certain aspects of or genetic system. One example of what how 22q communicate to our bodies is It tells our endocrine system how to function and absorb the storage of calcium. In my case low storage of calcium leads to hypocalcemia, hypocalcemia leads to seizures. I have not had any seizures since I was younger but then we didn’t know I had 22q because 22q unlike down syndrome a duplication on the 23rd chromosome 22q looks invisible with only a few mild physical differences such as hooded eyelids and somewhat smaller ears.

Imagine going to the doctor at any emergency room for yourself or your child and doctors and nurses don’t know what 22q is let alone what to test for or to even test for it.  Having to insist that doctors check calcium all three levels not just total prosperous or ionize. I spent a lot of time a doing research research I had to learn medical jargon and learn how to advocate and mentor others because I don’t want anyone else to feel like they are alone or isolate with having 22q deletion.

It also affects me because my siblings and father has it and we lost one of my siblings I deal with the grief on days that sound the disorder diagnoses as well as dates of my brother’s death.  I also feel survivor guilt sometimes because I am 33 why did I get to live longer then my brother. I am inspired by my daughter who has 22q and all of the milestones and amazing things she accomplishes.

I am sure 22q affects me in other ways I may not even know yet.  in fact, out of the 180 possible symptoms I have maybe 25 symptoms and a few others that is not on the list. With your friends.

I wonder how 22q affects others some have similar issues while others do not deal with what we deal with. I hope that helps answer some more questions but if you ae like me you might have more questions and I would love to read and try my best to answer your questions about 22q in the comments below.

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