info heading

info content

Information
Name Eva Kaminski
Born April 2013
Gender Female
Diagnosis 10q23.1 duplication in nrg3
Parents Greg and Angela Kaminski
City Coppersville, MI, USA
Email angelakaminski[at]gmail[dot]com
May 14, 2016
Eva is adopted. We got her at 7 weeks. She came screaming and she has this eagle sound that is as irritating as she can make it. She is VERY testy. She has monumental meltdowns. And any small thing can throw her off. She has screamed so loudly in stores that security has checked to make sure I wasn't hurting her. For months I just never took her to a store. She would be fine for 10 minutes and then it would start over something like her screaming about wanting to stand in the seat. She would be in a dead sleep and then just start screaming too. As I have said - screamer. On the flip side, she LOVES to hug. Everyone and even everything. It makes her feel so good she likes to share it. She tells me several times a day she wants to "rock you" or "hug you." She loves to be held and carried. It's a bonus she is only 24.5 pounds. She is one of 5 children, so I just knew something was a little different about her. She also has a high pain tolerance and as a newborn she would have nightsweats that were crazy. When she started talking she would say sentences like they were single words and she would repeat them. Then she would drop that sentence and start with another after a week or so. She had good speaking days and days of just babble. Her legs and arms are actually short, which is different from the other 10q kiddos. Her condition is in one gene. She has a duplication in the neuregulin 3. In many ways she is very mild compared to the others I read about on your sight, but behavior issues are part of what we have to deal with with her diagnosis. A big part. She has come a long way. We oddly enough found a cream that we use on her that helps tremendously.

She has so many odd little quirks that we kept asking her pediatrician about, but we were ignored and told she was "normal". Finally a geneticist said it might be a good idea to do a screening because she wasn't growing as she should have for a child who was born at 7lb 11oz. That is how we came to the diagnosis. It really was a shock because I didn't expect that THAT diagnosis. I have gone from thinking she will be fine to a kind of panic over wondering how bad is this going to get. That's why I am hopeful to find someone who is a little further along this road. So I can get an idea of what to work on. I suspect her bio dad and grandma have the same thing. I have a relationship with grandma so at some point I may ask if they will get screened. Grandma is a wonderful and healthy person, but she does have an odd speech thing going on too. Plus she is like 4'8"!

Angela