chroomosome 2 rearrangements /2 para. inversions

[anita]

Our son dylan was born with a mild hearing loss. We have some in our family so nobody looked any further. It wasn't until our 4month Ped. appt. we shared concerns of low muscle tone with the Dr.
As he looked a little further found that his eyes had inner creases but niether mine or my husbands did. Genetic testing was completed and Dylan was diagnosed with chromosonal #2 rearrangement with 4 possible breaks at the age of 4months. My husband and I were also tested and we were fine.
He has hypotonia, nystagmus (eyes jitter backand forth), developmental delay and hearing impairment which they believe to be due to #2q.
They have not yet ruled out a deletion.
Of course I am wondering what's to come....does anyone have similar characteristics?

[Linda Semeniuk]

Anita,
Since there doesn't seem to be a very active group here, I feel compelled to respond. I am new to this site. My Son Tristan who is turning 9 next week, was just diagnosed with 2q deletion. We haven't any details yet on the severity of the deletion. I do know, though, that it has been a struggle raising him because, until now, we had nothing concrete. He was obviously developmentally delayed, but without a diagnoses, there was no support, and many people (other parents) even told me they didn't see anything wrong with him. (They had never spent a day with him either) To me, it was like they were suggesting that it was all in my head. Tristan has hypotonia, he is not as active as other boys his age, but he is a very happy boy. He has exaggerated emotions, which is an emotional rollercoaster for me. He has strengths and he has stuggles. I am still learning to take the good with the bad. He is definetely teaching me patience! Tristan has cognitive delays also. It is hard to know his potential. But, you have never seen a more loving boy! I have heard it said that God only gives special children to special parents, so count yourself blessed!