Miss Cayli
Deletion 3p26.3
Deletion 3p26.3
Our Journey Through PDD/NOS
Recent Developments
June 19, 2008
Cayli has been doing well physically lately (knock wood!). Emotionally, however, is another story. She has been melting down really easy and is very anxious about little things. I feel like we are going through another of her "bad" cycles.
In other news, the authors of the article , Disruption of Contactin 4 in 3 Subjects with Autism Spectrum Disorder, are taking a look at Cayli's deletion. Her case is slightly different than those they wrote about, but perhaps it will be helpful. The article is available at:
http://jmg.bmj.com/cgi/content/abstract/jmg.2008.057505v1?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=CNTN4&andorexactfulltext=and&searchid=1&FIRSTINDEX=0&sortspec=relevance&resourcetype=HWCIT
May 11, 2008
In April we went to see Cayli’s geneticists at Baylor for a follow-up appointment about her 3p26.3 deletion that is 1.2MB in size. The doctors confirmed that part of her contactin gene, a protein that affects neurodevelopment, is missing. Recently, an article was published that links a deletion in the same general area as Cayli’s to autism spectrum disorders in three other children. Cayli’s deletion is different from the others in that it is de novo, and not inherited. They are going to run a test to see if both of her third chromosomes are affected by the same deletion.
Their advice was to continue her intensive speech and occupational therapy, as they believe her clinical problems are a result of her deletion. Additionally, the doctors suggested being more aggressive in seeking anti-epileptic treatment for her seizure-like activity, since she is at increased risk because of her genetic disorder.
I am glad they are still interested in Cayli, and I hope she helps to further research. I was discouraged when the geneticist said that most people with a chromosome deletion have a lingering effect throughout their lives. I was under the impression that if we worked really hard and waited a little longer, she would reach a normal level of development. That still may be the case, but for the first time I have to accept that it may not be.
Here is a picture of our little monkey taken in April 2008.
Cayli has been doing well physically lately (knock wood!). Emotionally, however, is another story. She has been melting down really easy and is very anxious about little things. I feel like we are going through another of her "bad" cycles.
In other news, the authors of the article , Disruption of Contactin 4 in 3 Subjects with Autism Spectrum Disorder, are taking a look at Cayli's deletion. Her case is slightly different than those they wrote about, but perhaps it will be helpful. The article is available at:
http://jmg.bmj.com/cgi/content/abstract/jmg.2008.057505v1?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&fulltext=CNTN4&andorexactfulltext=and&searchid=1&FIRSTINDEX=0&sortspec=relevance&resourcetype=HWCIT
May 11, 2008
In April we went to see Cayli’s geneticists at Baylor for a follow-up appointment about her 3p26.3 deletion that is 1.2MB in size. The doctors confirmed that part of her contactin gene, a protein that affects neurodevelopment, is missing. Recently, an article was published that links a deletion in the same general area as Cayli’s to autism spectrum disorders in three other children. Cayli’s deletion is different from the others in that it is de novo, and not inherited. They are going to run a test to see if both of her third chromosomes are affected by the same deletion.
Their advice was to continue her intensive speech and occupational therapy, as they believe her clinical problems are a result of her deletion. Additionally, the doctors suggested being more aggressive in seeking anti-epileptic treatment for her seizure-like activity, since she is at increased risk because of her genetic disorder.
I am glad they are still interested in Cayli, and I hope she helps to further research. I was discouraged when the geneticist said that most people with a chromosome deletion have a lingering effect throughout their lives. I was under the impression that if we worked really hard and waited a little longer, she would reach a normal level of development. That still may be the case, but for the first time I have to accept that it may not be.
Here is a picture of our little monkey taken in April 2008.
