Chromosomal deletion 16P11.2 - anyone have any personal experience??

[SpottedFoxx]

We had genetic testing done on our son and his doctor said his fragile x came back negative.  A few hours later he called to say that they found this deletion and we now have an appointment with a geneticist on March 30th.  I was hoping to find someone with personal experience that could tell me what to expect.

[turnquia]

 Even with a diffinitive diagnosis of a chromosomal deletion you will truely never know what to expect with your kiddo.  They are all different and while there may be some similarities especially in physical features usually they all will be affected differently.   Some kids will be more affected than other, and some hardly at all.  

I just wanted to send you hugs.  Finding out anything being "wrong" with our kiddos is hard and scary.  I hope the geneticist will have some more answers for you.  

I think the site is www.rarechromo.com or similar to it that offers support for kids with rare chromosome disorders.  

[SpottedFoxx]

Thank you so much!  I actually found a group in the UK that put out a brochure which is very easy to read for a layperson like me.  The whole time I was reading it I kept saying "OMG that explains it!".  I have to say, out of all my son's various diagnosis, this has been the least scary (so far!).

[daniellelucille]

I was just googling "16p11.2 deletion" because I was discussing it with a nurse friend of mine... My daughter has this deletion and she will be 3 this summer. From birth to 10 months we had to practically force fed her. She refused to eat. She also had to have skull surgery as she had sagittal craniosynotosis... All in all now... She is a PERFECT toddler!!! If you would ever like to chat, please email me!

[e-mail]

I have no idea how this site works, the link to this post just came up when I was googling. That's my spam email address, but if you wish to chat, I'll give you my personal email through there. :) I personally would love to keep in touch as our children grow up. I've never seen another mother post about a 16p11.2 deletion in specifics!

[lovin my kid]

HELLO, DANIELLELUCILLE I HAVE A DAUGHTER THAT HAS MICRODELETION ALSO I JUST FOUND OUT LAST MARCH AND I NEED ALL THE INFORMATION I CAN GET WITH THIS DELETION SYNDROM I HEARD THAT SOME KID START TO HAVE SEIZURES AS THEY GET OLDER IS THAT TRUE? I'M VERY SCARED FOR MY CHILD AND I'M LOST, NO ONE I KNOW KID HAVE THIS AND IT'S HARD TO TALK TO ANYONE ABOUT IT BECAUSE THEY JUST DON'T UNDERSTAND I NEED SOME HELP WITH LEARNING HOW TO REACT TO THE THING SHE DO BECAUSE SHE DON'T UNDERSTAND AND IT HARD JUST TO KNOW THAT THERES SOMEONE IN THE WORLD THAT GOES THROUGH THIS TO I THOUGH I WAS THE ONLY ONE MY DAUGHTER DON'T MAKE TO MANY FRIENDS AT ALL SHE 61/2 ALMOST 7 AND AT THAT AGE KIDS IS HARSH SO SHE REALLY DON'T HAVE NO FRIENDS AT ALL I FEEL SO SAD FOR MY BABY GIRL I'M GLAD I GOT TO THIS SITE JUST BY SEEING THAT I'M NOT THE ONLY ONE MAKES ME FEEL BETTER ALREADY. THANK YOU THE LADY THATS LOVIN HER KIDS

[SpottedFoxx]

Lovin - try not to stress too much.  I know it's scary.  Not all kids have seizures.  My son had them as a baby.  I found a wonderful group at http://simonsvipconnect.org/.  They have  message board for you to ask questions.  There is also a study that is currently going on (if you are in the US).  There may also be a study in the UK.  Also, on Facebook, if you search 16p11.2 there is a group there as well that is wonderful and supportive.

Julie

[tinanoe]

Hello my name is Tina and I have a 51/2 year old beautiful girl with the 16p11.2 deletion. I can so appreciate and understand your fears and concerns and also the great unknown. There are a lot of similarities with all of our children but also so many differences. My princess strugled to eat also I felt i was failing at the teaching her to eat horrably!  she did not speak until she was 3, we began speach therapy before she was 2 because she had grunts and different sounds she made and a therapist noticed her while I had taken a nephew to a preschool screening. We just assumed her being the baby had a lot of helpers and was just a late bloomer. The therapist also thought as we did. I noticed a lot of differences from my other children. Head banging from an early age maybe 4 months she would bang her head on things and anyone who was in range and laughed with sheer pleasure. I know things hit home at age 3 when we put her in a public pre school program ,at this point we still didnt have a diagnosis,. She was such a happy baby but when she started pre school things began to change drasticly. She was sad and cried every day when we droped her off. She isolated herself and began to really regress all the speach therapy progress was gone. Mind u she still had a maybe 40 word vocabulary. We began at that point to seek answers , it was as if she was shuting down and even simple tasks were impossible for her. Her pedatrition said she had cerevial palsy. Thank God we got an OT that was on the ball and advocated for her and us. She does now have seizures and great neuro DR Benjamin Ross, Rocky Mountain Childrens found the deletion as well as the epelepsy. She began her third summer loosing the use of her right  leg and would draag it her right hand would draw in but not all the time it seems to come in cycles. My biggest indicater is that she starts to bang her head again then a slow progression to the point she doesnt move much and loss use of feet and motor function. My princess also has dyspraxia,sensory disorder, she has been pottytrained using a timmer system. This year she had the greatest growth spurt physically and conseptually she has experienced yet. The crash this time was the greatest also. You know I dont know whats next ,from what i have read some children with the deletion experience a lot of issues and some not so much if any affects.  I hope what we have experienced will help others on your journey and maybe just knowing there are others walking this unknown with you and us will be of great encouragement.

Good living to all you precious mamas and special babies.

[Jarcee]

Hi there is a group on facebook you can join - parents/carers with children with this deletion it is called "16p11.2 deletion" and I have found this group very helpful.
 

[SpottedFoxx]

Yep - I'm a member of that group now.  I agree - very helpful.