Hi I'm Yvonne & my son Sam is 7. We just found out that Sam has a deletion through a miccoray test. My husband & I do not have it nor does our other son. We did lose twins at 6 months, one who had spinal bifida so now we wonder...? Sam was born premature due to lack of growth & low ammnoic fluid. We discovered right away that he had Peter's Anomly which affects the size of the eye & causes cloudy corneas as well as other eye issues. He has had over 40 surgeries & sees some in one eye now. We also thought he had peter's PLUS Anomaly whcih would includ his delays & short starue but he doesn't have "the look" so finally we got this new test that showed this deletin & gives us some answers. Sam is the size of a 2 yr old, & his understanding is about 12-18 months. He walks but didn't walk until he was about 3. He doesn't have many words nor does he seem to understand very many. But he is spunky & understands the words he likes like bath, go out, junp:) When he was under one, he almost died from aspirations, had terrible reflux & sleep apnea. He is still on a monitor at night cuz he has apneas. The biggest medical issue he has now is hypoglycemia. His sugars will dip so low so quickly that he will pass out or have a seizure. This has been a major problem for us although we can usually stay on top of things unless he gets sick then he always ends up in the hospital on IVs. so I'm wondering if anyone here has dealt with any of this? does anyone else have the same deletion? Does anyone have Peter's?? How about the hypoglycemia or apnea issues. I'd love to hear back from you guys & I will be reading over the topics.

Hello Yvonne and welcome to the group. Glad you found us. My son Henry has 4q31.3. He is almost 15 mo old. A lot of what you named sounds familiar to me though not precisely identical. Henry has been diagnosed with congenital glaucoma and had to have surgery on his right eye. We are in the process of patching the left in hopes of strengthening the weak wandering one. No one has mentioned Peter's Anomaly to us. Hank also has extreme reflux to the point of getting a nissen fundoplication surgery. That ties the esophagus around the top of the stomach wholly preventing reflux from happening. When Hank is sick he wretches horribly but does not vomit. He is not yet sitting up on his own and also seems small. I too had low fluid my whole pregnancy but carried Hank to term. He also has a heart defect called DORV and will require repair down the road. Nothing was known in utero. Our sons seem quite similar and interestingly, Henry's older brother is named Sam! I will be reading about Peter's Anomaly. Thanks for sharing your story. ~ Chris

Hi thanks for the reply:) It's crazy to think Sam is 7 yrs old & we've just found this out! Peter's Anomaly is all about the corneas, I have a website www.petersanomaly.com I'm like the "go to person" for PA but this chr 4 deletion is all new to me! We came very close to having the fund. surgery a couple times but we just didn't want to do it and thankfully he has grown out of the worst of it! In some ways I'm glad I didn't know about the deltion from the begining like so many of the parents on here have done. I think I had more time to kinda deal with things one at a time! Although I think he would have gotten better medical care if the deletion was known about earlier. I really had to fight to keep him on an apnea monitor. When he was about 2 yrs old, the doc wanted to take him off 7 said there was no way he was still having apneas. I MADE them do a sleep study& we found he had centeral core sleep apnea & he had 49 apneas on their more senistive machine that night!!!! I think it would have been a mute point if this was known. We got the report from the genetists but won't see her till the 19th but I've researched it & feel ready to ask good questions. Glad we have this. Is there another site too?