22Q11 Deletion Syndrome / DiGeorge / VCFS?

thismama

Hello!

I am looking for other Mama's with babies that have 22Q11 Deletion Syndrome (aka DiGeorge or Velo Cardio Facial Syndrome)?

My DD will be 1 next week and I am still learning so much - would love to connect with others!

Sam

Matkinson08

There are a couple that lurk on here including me, but I think I shy away with good cause.

Did you get dx after birth or while still pregnant?  Me and Mrs.Kolman both found out while pregnant with our boys.  Her LO is a little over a year old so you two could probably compare notes.  What kind of issues from the deletion does your DD present?  I always think its interesting to hear how different LO are affected.

And congrats on #2!

mskolman

Yes, Matkinson is all too familiar with the diagnosis as am I. Carter is now 15 months old and is doing quite well given his terrible airway complications from his serious heart defect. I would like to hear more about your LO and how she is doing. It is always great to connect with others. How is your DD's heart? My son's heart defect is by far the worst part of it all.

Please feel free to PM me or email me at krhansen1996@yahoo.com to connect. Matkinson is also a great resource although her precious Matty is now an angel looking over her new brother or sister to be. We both had pretty horrid experiences with our son's heart defects and the complications it caused.  

thismama

Matkinson08:

There are a couple that lurk on here including me, but I think I shy away with good cause.

Did you get dx after birth or while still pregnant?  Me and Mrs.Kolman both found out while pregnant with our boys.  Her LO is a little over a year old so you two could probably compare notes.  What kind of issues from the deletion does your DD present?  I always think its interesting to hear how different LO are affected.

And congrats on #2!

Thank you for the congrats

We had a diagnosis of a heart defect from 17 wks in utero and then the 22q11 deletion syndrome diagnosis came after birth. My DD has most of the physical characteristics associated with the syndrome as well she has tetrology of fallot (heart deffect). As she develops I am learning more, but it is hard to say if gross motor delays are from the heart or are from the deletion.

Thank you for introducing yourself. If you do not wish to share I understand, but I would love to hear more about your story.

Sam

thismama

mskolman:

Yes, Matkinson is all too familiar with the diagnosis as am I. Carter is now 15 months old and is doing quite well given his terrible airway complications from his serious heart defect. I would like to hear more about your LO and how she is doing. It is always great to connect with others. How is your DD's heart? My son's heart defect is by far the worst part of it all.

Please feel free to PM me or email me at krhansen1996@yahoo.com to connect. Matkinson is also a great resource although her precious Matty is now an angel looking over her new brother or sister to be. We both had pretty horrid experiences with our son's heart defects and the complications it caused.  

Thank you for your response. Yes, like your DS my DD so far is the most complicated with her heart. She was born with what our cardiologist told us was at the extreme end of tetrology of fallot (her pulmonary valve, although functioning, was the size of the width of a fingernail and far to small to pump the blood back and forth from heart to lungs), she also grew these MAPCAS that make her procedures and surgeries more complicated; however they pumped oxygen back and forth long enough for her to come home for the first 6 months, so she could grow before her first surgery, she also has a large hole between her left and right ventricle, and her ASD valve did not close right away.

I look forward to talking with you.

Sam

telfakaye

Hello! Congrats on #2! I am 28 weeks pregnant and I found out at 20 weeks about my LO's heart defects (VSD, aortic stenosis and possible aortic interruption) and at 22 weeks we found out about the deletion. I have done research and learned alot from Mskolman so I feel like I am ready (most of the time) but I still break down every once in a while and wonder how we will manage. It would be great to talk to you!

thismama

telfakaye:

Hello! Congrats on #2! I am 28 weeks pregnant and I found out at 20 weeks about my LO's heart defects (VSD, aortic stenosis and possible aortic interruption) and at 22 weeks we found out about the deletion. I have done research and learned alot from Mskolman so I feel like I am ready (most of the time) but I still break down every once in a while and wonder how we will manage. It would be great to talk to you!

Thank you for the congrats - actually # 4!

I chose not to have genetic testing until after my DD was born, but from echo and knowing about her heart deffects, I was prepared for the possibilty of a genetic syndrome (Both VCFS and Downs were mentioned as a possibility.) I briefly googled and researched, but knowing that there were so many anomalies associsted I didn't want too stress out more than I all ready was. I do better when I work with the actuals vs. the "what ifs". At that point I knew that she had a major heart deffect, so I focused on that.

I feel the positive to knowing that she has VCFS, is that I can be proactive and be on the look out for many of the anomolies that could effect her health and education. Right now I am working with a Pediatric Gentetist to try to really understand 22Q11 deletion and what my next steps need to be.

Right now our next steps are to see a Pediatric ENT (to check her high pallet) and her parralized vocal chords (very weak voice), a developmental pediatrician to follow us and her milestones, and to continue with our regular pediatrician and cardiologist.

I look forward to talking more with you.

 Sam

MrsKristy

Hi!  I'm pretty new to this board as well, but I'm a 22Q mama.  My DS is about 7.5 months old and was diagnosed about 4 months ago.  Meeting with specialists and being educated is the best thing you can do, especially with a syndrome like this one with so many anomalies.

esweet

Hi there,

my daugter has digeorge syndrome.  we found out she had a heart defect when i was 19 wks pregnant, but opted not to do any genetic testing until after she was born.  she had an interupted aortic archa, a large vsd, and a small asd.  her aorta and vsd were both repaired.  she's now 2 yrs. old and such an awsome little girl!!!!!!! love, love, love every minute i spend with her!

she does having feeding issues so she has a mic key button and will be starting a very comprehensive, intense feeding program in oct.

i'm the director of a preschool, so being around children all day, i feel that she has a speech delay, but not too severe.  she talks a lot!!! but i'm the only one that can understand about 50% of what she says.

other than that it's all a waiting game to see what else of digeorge will show up with her.

i've done a lot of research and a friend of mine is also a genetic counselor, so please feel free to email me with anything eajsweet@gmail.com.

it's such a broad diagnosis...i haven't yet heard of any 2 kids that are exactly the same.