16p12.1 Depletion...

Mom02 - posted on 08/17/2011

Hello, I am not sure if you still read this but I thought I would post for others. First off having a child with special needs no matter the degree is stressful in its own way so don't take others comments personally! I understand your concern and frustration.

I have a 4 year old he has a 16p12.2 microdeletion as well as a 2q31.1 microdeletion. when we first found out about his deletions we were actually told the 16 deletion was of little concern so we have been focusing more on the other deletion. My son was born with two holes in his heart and a leaky aortic valve. He also aspirated and received a feeding tube at 8 months. He has had heart surgery and his heart is good for the most part. He still has the feeding tube, but he is getting close to losing it. He no longer aspirates we are just working on calorie intake.

He did have significant developmental delays in all areas, but he is doing well now. He has caught up in some areas, but is still delayed in speech and cognitive. He walked at 22 months. We are actually very happy with his progress. It took a lot of work and stressful times to get where we are now, but we have a positive outlook on the future. He also has a wide bridge on his nose. Also he is adopted so I am unsure where the deletions came from.

Suzan - posted on 01/10/2011

My son has the a genetic deletion on the that is the same. IT is 478 KB interstitial deletion. He has ADHD and mild autism. I just found out that I also have the same deletion but I am not affected. He doesn't have any heart problems or feeding issues. I hope that you find this helpful. I am currious. Do you have any other children and do they carry the deletion?

Meeghan - posted on 07/19/2010

I am not sure if you still check responses to this blog, but I have a child with the same deletion. She was born April 1st of this year. After a month in the NICU, she had a G button put in and is now eating completely from the tube. She spent a total of six weeks in the NICU. She was also 6 weeks early. My husband and I have been tested and neither of us have the deletion. She was diagnosed before birth with a possible heart defect, it has since resolved itself. She has the same nose bridge issue, as well as wide nipples. We have not been to the pediatric genetisist yet. We were told that it could take six months to a year before we could get in. She was born with a cleft palate, but they think her feeding issues are more to do with the deletion.

If you still check this, will you please update us on your son? I have been told wait and see so many times that at this point I just need to know that I am not the only one out there. I hope and pray that he is progressing well.

Kayla - posted on 10/25/2009

Quoting donna:

You have a beautiful baby and are very blessed that he is healthy. My grandson has had 38 surgeries and has a feeding tube. He will never walk, talk, see his mom and dad's face. These are just a few things he has wrong with him. I will tell you when my daughter went into labor at 27 wks the nurse called the doctor at 2 am, he told the nurse to tell my daughter to hold her legs together until he got there at 8am. The doctor was a high risk doctor. My grandson was delivered by a resident who had never delivered a baby at 7:30am. We are very thankful and feel blessed that Chase is here with us. My daughter can't have any more babies, she had 2 miscarriages before she had Chase. Don't mention a lawyer should look into this. There is not a lawyer in the state of TN who will handle a case like this. Just thank your GOD that you have a child that you can say "is going to grow up to be just like his dad." I dunno- are you complaining about a thin upper lip. What is this word "dysmorphic"? Did a doctor tell you these things about your child? I will tell you I would find me another doctor if this what he told you....

Thanks...he's not completely healthy. He has a heart defect. And no, I'm not complaining about a thin upper lip that was just one of the things they picked on at the genetics office, that and a wide nasal bridge. I was just trying to go into detail what the genetics doctor said about him so any other parents who have a baby with the same depletion might have in common with Oliver. Dysmorphic is malformed. I'm not saying that I'm not thankful for my child either...that's not what I was getting at by this post. I thank God for my son everyday! Sorry if you took it that way, but that wasn't my intenion at all..I was just told that the depletion he has is "rare" but I know there has to be other cases of this out there outside of my child and husband. They told me his heart defect was rare as well, and I've found a lot of little ones with that. Our genetics counselor gave us all this information about him.

Sorry to hear about your grandson, it breaks my heart ot hear that.

Donna - posted on 10/25/2009

You have a beautiful baby and are very blessed that he is healthy. My grandson has had 38 surgeries and has a feeding tube. He will never walk, talk, see his mom and dad's face. These are just a few things he has wrong with him. I will tell you when my daughter went into labor at 27 wks the nurse called the doctor at 2 am, he told the nurse to tell my daughter to hold her legs together until he got there at 8am. The doctor was a high risk doctor. My grandson was delivered by a resident who had never delivered a baby at 7:30am. We are very thankful and feel blessed that Chase is here with us. My daughter can't have any more babies, she had 2 miscarriages before she had Chase. Don't mention a lawyer should look into this. There is not a lawyer in the state of TN who will handle a case like this. Just thank your GOD that you have a child that you can say "is going to grow up to be just like his dad." I dunno- are you complaining about a thin upper lip. What is this word "dysmorphic"? Did a doctor tell you these things about your child? I will tell you I would find me another doctor if this what he told you....