tag:blogger.com,1999:blog-4701780071297668103.post2192501941254066715..comments2022-11-19T03:12:46.388-06:00Comments on Ladies and GentleBen: More about the 6Q26 and 6Q27 deletion...Aliciahttp://www.blogger.com/profile/15049417274331573860noreply@blogger.comBlogger4125tag:blogger.com,1999:blog-4701780071297668103.post-69251202436416936972012-10-06T23:54:20.173-05:002012-10-06T23:54:20.173-05:00Just found this. My daughter L was adopted from Ru...Just found this. My daughter L was adopted from Russia at age 2 1/2 in 2000. She is nearing her fifteenth birthday. About her first 2 years, I know nearly nothing. She has FAE and attachment disorder. She walked at 20 months, has hypotonia,scoliosis, had strabismus surgery, therapies, etc.......which I had to fight to get. Potty training didn't happen until nearly 5 years and full bowel control (question of physical or psychological/language issue) until nearly 7.<br /><br />We spent the last year doing testing bc I found drs who listened to me. They found the microdeletion 6q26 with the PARK2 gene marker. They tell me she has the chance to develop juvenile parkinsons. She is only missing a tiny piece, but her problems are more severe cognitively than most kids missing both 26 and 27. <br /><br />She is on the level of a 7-9 year old and will likely stay there. Most people do not see anything different about her because she looks mostly normal, but has severe language disorder. In the past two years she began to pull out her hair. We are in therapy to help her discern and articulate her feelings and learn to deal with them in a positive way.<br /><br />I don't really know which parent had the deletion, but suspect it was not a fluke because she had siblings in "special schools". <br /><br />It is difficult navigating these teen years because she is not really a teenager. She will never live alone. <br /><br />Our geneticist gave us a handout from UNIQUE at rarechromo.org.<br /><br />For all of her obvious and now confirmed brain damage, her MRI was unremarkable. <br /><br />So like all of us, she is still an enigma. Wouldn't we all like a roadmap through these mysteries? <br /><br />I'm a mom of 7 (6 bio) and grammie of 4. But after twelve years of parenting this special kid, I did not learn anything from these tests except that they confirmed what I had known. But no answers for the future. Would love to be in touch with other moms with kids having 6q26.<br /><br />Hang in there.....it's a wild ride.<br />meet me at www.momonassignment.blogspot.comdebbie r.http://www.momonassignment.blogspot.comnoreply@blogger.comtag:blogger.com,1999:blog-4701780071297668103.post-7738996913840160782012-09-16T01:33:17.953-05:002012-09-16T01:33:17.953-05:00Hello, my lil one also has a deletion of 6q27. She...Hello, my lil one also has a deletion of 6q27. She was fine untill she missed her milestones like independent sitting . She is now 11 months old and she needs support to sit. How can I contact you. I don't know if she has hydrocephalus . We are going to see genetics in a few days. Maybe a possible MRI. Monkeyhttps://www.blogger.com/profile/16204478514086047031noreply@blogger.comtag:blogger.com,1999:blog-4701780071297668103.post-72099390458312302822011-08-11T10:22:37.039-05:002011-08-11T10:22:37.039-05:00Hello! My name is Diane, I have a 2 1/2 year old w...Hello! My name is Diane, I have a 2 1/2 year old with a 6q26 deletion. He also has hydrocephalous as well. I would love to talk to you some more about our children! My email is dmspodnick@hotmail.com. Thanks!Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-4701780071297668103.post-75237896475570247492011-07-23T06:34:28.360-05:002011-07-23T06:34:28.360-05:00This is great that you took the time to cover all ...This is great that you took the time to cover all this ground. I hope it helps someone who is learning about this in their own life and helps bring awareness to the rest of us!Jenniferhttps://www.blogger.com/profile/12824506338738265111noreply@blogger.com