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Post by Jeff on Feb 16, 2008 9:18:35 GMT -5
Hi,
I am Jeff. My wife and I have 3 children, an 11 Year old son (from my previous marriage), a 4 Year old daughter and a 1 year old son (on February 23, 2008).
Our son Andrew, the almost 1 year old, was diagnosed with a band deletion on chromosome 2: 2q35 deletion. According to the geneticist, he is the first person to be documented with this deletion. So we do not have have any information to review to predict any sort of development. The other 2 children are healthy.
Last October, we discovered that Andrew had fluid in his ears and couldn't hear for a few months. The fluid was drained, tubes put in his ears and now he hears fine.
Last November, the doctor said Andrew's fingers, hands and wrists are the same size as a typical 3 month old even though he was almost 9 months at the time. He has always had a large head. The size of his head has provided challenges for Andrew as he is not able to sit up on his own or crawl. He has only recently started to hold his head up.
Around the same time, a geneticist had chromosomal testing done on Andrew. That is when we found out that He has a chromosomal deletion.
Recently he was diagnosed with Cortical Visual Impairment (CVI) by a pediatric ophthalmologist. This is a condition where the eyes are healthy, however visual images received are not interpreted by brain as you and I would interpret them. The cause for this is a slightly underdeveloped brain in the visual cortex.
Overall, he is globally delayed. He has an early intervention therapist visit him once a week to work with him for about an hour. We believe all of his issues have been a result of the deletion. Does anyone know of any resources for My wife and I to explore?
Thanks.
Jeff
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Post by josiah02 on Mar 13, 2008 20:45:00 GMT -5
hi jeff, my little girl Jade also has a deletion on her second cromosome i also have two other children boy 6yrs, jade 4yrs 4months, and girl 8 months. both other children healthy. jade's deletion is on 2 band Q33.1- Q35. and we were also told that there are no other cases with a child who hasthis and that there is no diagnoses or syndrom. well i thought all that was true until i found this site. it sounds like there are many kids like ours. jade has fluid in her ears always we go in every six months for new tubes and they drain on it's own that may help you. we noticed t was due to a reflux and also a sub mucus cleft palate. she had to eat with a habermann feeder and we had to thicken her formula or milk. until she had a feeding tube placed. it is a long road but it will only make you all stronger as a family my oldest is the best with her but a very protective big brother.  i would also like to know more if you find things please let me know but from dr.'s with little knowledge to only knowing that this is rare it is hard to come by. Bobbi |
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Post by Megan on Jun 21, 2012 16:22:05 GMT -5
Jeff,
I have been trying to get into contact with you. My son has a deletion at 2q35.
Please email me at vieexpose@gmail.com
I sent you a message thru your web site that has my phone number. I assume you wont get this as it has been a while since you have updated the website/ responded to me... but if by chance you come by this please, please contact me.
Any day, any time. Thank you,
Megan Johnson
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Post by Megan on Jun 27, 2012 20:49:28 GMT -5
Jeff I pray you stumble on one of my messages...
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Post by keisha on Mar 3, 2015 20:39:58 GMT -5
i also have a son with 2q35 who has just turned 8 been trying to find out more info and came across this my email is lillangel_69_69@hotmail.com
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Post by Jeff on May 22, 2015 16:29:38 GMT -5
Hi Keisha,
Sent you a message via email earlier to get more information. Feel free to reach out to me at jamvest1@aol.com.
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Post by kezban on Jun 14, 2016 3:35:31 GMT -5
Hi, I am Jeff. My wife and I have 3 children, an 11 Year old son (from my previous marriage), a 4 Year old daughter and a 1 year old son (on February 23, 2008). Our son Andrew, the almost 1 year old, was diagnosed with a band deletion on chromosome 2: 2q35 deletion. According to the geneticist, he is the first person to be documented with this deletion. So we do not have have any information to review to predict any sort of development. The other 2 children are healthy. Last October, we discovered that Andrew had fluid in his ears and couldn't hear for a few months. The fluid was drained, tubes put in his ears and now he hears fine. Last November, the doctor said Andrew's fingers, hands and wrists are the same size as a typical 3 month old even though he was almost 9 months at the time. He has always had a large head. The size of his head has provided challenges for Andrew as he is not able to sit up on his own or crawl. He has only recently started to hold his head up. Around the same time, a geneticist had chromosomal testing done on Andrew. That is when we found out that He has a chromosomal deletion. Recently he was diagnosed with Cortical Visual Impairment (CVI) by a pediatric ophthalmologist. This is a condition where the eyes are healthy, however visual images received are not interpreted by brain as you and I would interpret them. The cause for this is a slightly underdeveloped brain in the visual cortex. Overall, he is globally delayed. He has an early intervention therapist visit him once a week to work with him for about an hour. We believe all of his issues have been a result of the deletion. Does anyone know of any resources for My wife and I to explore? Thanks. Jeff Hi Jeff, Our girl's detection is same like yours. i would like to know that your son's development. he must be 9 years old now. Our girl is 1 years old. she seems like 3 months. her detection is chromosome 2:2q35 delection. Please contact me from my mail (filizkezban06@gmail.com). it might give a opportunity to compare features. as you said, we heard same words by doctors. she is the first person to be documented with this deletion. |
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i would also like to know more if you find things please let me know but from dr.'s with little knowledge to only knowing that this is rare it is hard to come by.