My son was tested for 1p36 deletion syndrome on Friday. It will be weeks before we get the results. I am skeptical about his diagnosis, but I’m looking for feedback from others. His doctor has said he has “distinctive facial features” since birth. She has done thyroid testing, MRI’s, CT scans, the works. He has an enlarged soft spot. He started walking at 19 months and is doing pretty well now. He is 20 months old. He receives early intervention. He isn’t talking yet. If he does have anything, it is very mild, I think. Is there anyone who can comment on this? His delays are mild as of yet, but there are some things that stand out for sure. I’m just so confused! Any feedback would be much appreciated. Thanks!
I think it is awesome that your dr. knows to check for the 1p36 deletion. Most drs. dont even know what it is 
Anyways, you really cant know until you get the results back. But when I went to the 1p36.com website, I found tons of info and I realized that my son exhibited a lot of the same symptoms. So it all made sense. You may want to try looking up 1p36 on google. It may ease your mind 
Good luck!!
Thanks so much for the response! I’m trying to be patient and wait for the results, but it’s just so hard!! I have done a lot of research and I have scoured the 1p36.com website. The thing that confuses me is that I read one paragraph and think “oh yeah, that’s him”, and then read the next and think “no way!”. So, I guess I just need to wait it out. He does have a swallow disorder, he has an enlarged soft spot (20 mths and it’s still about the size of a half dollar), developmental delays in speech and gross motor and he has the distinct facial features (says his doctor). However, he doesn’t have seizures, and however late, he is walking well now (started at 19 mths). I know I’m just over analyzing things and it will all come in time. I just needed a place to vent and get opinions from those who have been there before. Oh, and my ped is awesome! Thanks again!!
No problem and good luck!! Just remember that no matter what, everything will be alright. I was in denial for a long time and I didnt want to talk about it with anyone. But once I realized that I needed people and resources to help him, I opened up. I feel like I won the lottery. I am lucky that he is healthy and making progress. Dont get me wrong, he has to take meds everyday and receive therapy everyday, but there are people out there that their children will never talk or walk. I feel blessed that he hugs and kisses me and that he runs around like a wild child!
If you ever need to talk, I am here. I really understand how hard it is and what lies ahead as far as school, etc. I think any parent of a special needs child knows how exhausting it can be. So hang in there!! You are a great mother!