How 22q was discovered in our family dispite expert advice Genetics 101

I am a 35 year old with 22q I am a blogger I also have a 10 year old who turns 11 on the 27 here is my website look at the what is 22q link there are links to resources there https://www.mommiesquietplace.com We had me tested after my father tested positive when my brother tested positive and then my sister tested positive and my youngest brother tested positive all for 22q11.2 deletion syndrome. Mine was so mild and I have a different mom then my siblings I wasn't tested until I was 21. I had my daughter at 24 and she tested positive as well. The website I created because like you I couldn't find much info and support was hard to come across for adults who have it. I hope this helps a little. On top of 22q Bella has mild form of cp do to complications I endured during labor.

This is our journey right here on our website. I hope this is helpful and if you found it helpful please pass it on to someone else who is just doing the genetic testing and waiting results or has gotten their test results.  Social media has been the best form of support I could ever have asked for. There are a few bad grapes who want to think what they will about adults with 22q but it does not effect all of us in the exact same way. Each of us have different set of characteristics from our parents and support and environmental factors also have made a difference.  Awareness is out there more research that is accurate needs to be passed around from people who experience 22q first hand. This is just one of many stories.

There are parents I have come across who have had everyone tested and they have only one child who has it and that is called denuvo. Random chance of the genetic draw. With genetics it's like a nasty game of Russian roulette you never know what you are going to get. In my case I could have another child and with the 50/50 chance of passing it on I might have a child who does not have 22q. Then there are fertility options I can consider or adoption all very expensive treatments.  I am content being a step mom to 3 young adults and having given birth to my daughter 11 years ago. I am content where I am at and look forward to having more date nights out with my hubby now that Bella is at the age where she is not as dependent on me.  I been lucky enough to have friends and family watch her I have never had to get a babysitter. I am in a new phase in my life and I am able to take the time to focus on my writing that's what I choose to do with my time.

I want to thank everyone who has read and followed along my blog all of these years and kept up with the ever changing website. This one is finally it and is here to stay put. I started this website as a blog over on blogger as it was just a place for me to journal out my thoughts. then I had to invest in a domain as other's started to copy what I was doing too. There became a time and space where people were competitive over who knows more and that's why I pulled away from support groups online. I am part of only three really good ones., The awareness is out there research and funding and providing support services to family's like ours while I have not come across that many. That's why I am now stepping up my website game to help others because I know what it feels like to go the journey alone and feel like you are the only person like you that is out there.

If you are looking for support and kindness you have come to the right place.

enjoy the post and as always feel free to like comment and share.

thank you

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How to handle doctors visits with special needs kids like a boss! or our trip to U of M

 Hello everyone,

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I am going to dive right into this one as I am excited to share the news.

 The reason for the doctors visit is Bella has 80% hypers-nasal speech means when she speaks air goes up her nose is what the test showed at the last doctors visit.  

In Aug, in fact, we were scheduled to go ahead and correct this issue she has with air by fat graphing which involves fat from some part of Bella (I wasn't sure where they were going to find any fat on her)  I was wondering if we should wait it out until she passes puberty or just go ahead and do it now and get it over with.

The speech doctor at the clinic had to perform her speech test on Bella by asking Bella to say funny sounding sentences. Bella had to say words while pinching her nose, followed by the breath o her breathing on(magic mirror thing a ma jigger) I am not sure what it was called but it goes under Bellas' nose and you can tell if there is air in the mirror if it clouds up or not. Bella had no air on the mirror this time.  Last time the mirror was all cloudy.

Bella then had to sit with a fun looking space helmet on her head and speak into a sensor while she said the same funny worded sentences. Bella scored a perfect normal on the test. 4 times. Normal from 80% is something only short of a Miracle.

I don't even think it sunk in yet. Bella was thrilled and thankful that Bella did not have to have a camera go down her nose into the back of her throat.   It was a shock to both of us no surgery needed  Bella will go back for a team visit soon as they can fit us in to talk to the team about our next treatment plans.

Below is some info on what Velopharyngeal or for short Vpi is

 

 

 

 

 

Bella playing in the play area on the 8th floor after to burn off her energy before we headed home

 

I know I asked all of you to visit my website to hear about this trip because it is such great news it was difficult to talk to 100 different people and I can not keep up with that many questions. If you do have any questions feel free to leave a comment on the blog in the comment section below. 

Thank you for reading. Bella looks forward to seeing your likes, comments, and shares and she said she is super excited she does not have to have surgery.  Bella is a 10-year-old girl with 22q and cerebral palsy. I am a mom who also has 22q. This is our journey and I am sharing to help others out there not feel so alone.   Don't forget if you like it subscribe (Purple button top right of the homepage)

Until next time take one second at a time.