Tuesday

The website and blog are up and running.  I still need to add more medical and scientific information/ links on the site. 

This past weekend I had a small breakthrough.  I discovered the Chromosome Disorder Outreach (CDO) group.  This is a non-profit organization dedicated to helping families with different chromosomal disorders.  When I was reviewing the chromosome 2 listed disorders, I found another 2q35deletion.  I sent an email to CDO, registered on their site and they provided me with a few names of families with similar issues.  One of the families has a little girl with a 2q35 deletion,  however, their daughter's karyotype is 46,XX,del(2)(q35). This means 2q is deleted from q35 to the end of 2q.  The deletion is much larger than Andrew's deletion.  Also, she has more complications than him.. I contacted them last night via email.  We should continue to correspond.

The CDO has also agreed to let me add some of their information about chromosome 2 issues onto our website.

Other updates....  Andrew has a speech evaluation on Thursday.  Hopefully, we get some valuable information.  Maybe they will find a speech pathologist to work with him so he will start talking.

We continue to stand him up and encourage him to try to take baby steps.  Since Andrew has been on his growth hormone shots, his trunk and legs have been getting stronger. 

That is it for now...will write soon.

Regards,

Jeff

 

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