Unique

Well once again insomnia is plaguing me. I went through the private Facebook group I belong to and searched every chromosome deletion and duplication we have. I found other families with the deletions, different sizes, but still. So finding other families led to more information.
Finally information about the Xq28 duplication. Funny a genetics counselor couldn't tell me ANYTHING about the chromosome, but you can google legit articles about it. These links gave me some insight on the Xq28 duplication, also known as a MECP2 Duplication syndrome.Xq28 diplications, Rarechromo.org
mecp2-duplication-syndrome
To sum it up the Xq28 duplication the Unique (rarechormo.org) pdf states "Most common features of a duplication of Xq28 in boys.
Every boy with an Xq28 duplication is unique and so each person will have different
medical and developmental concerns. Additionally, no one person will have all of the
features listed in this guide. However a number of common features of duplications of
Xq28 have emerged:

 Hypotonia (floppiness or unusually low muscle tone) in newborn babies and infants
 Delayed or absent speech and language
 Learning (intellectual) disability
 Progressive neurological conditions such as seizures and spasticity (a disorder in
which certain muscles are continuously contracted. This contraction causes
tightness and stiffness of the muscles and may interfere with gait and movement)
 Recurrent respiratory infections"
 My son has low muscle tone, delayed speech and language, and Autism and ADHD (intellectual disabilities). He also has had constipation issues, which is also linked to Xq28. Another point unqiue made is that "Children with an Xq28 duplication are typically pleasant, calm and sociable. However, they are as vulnerable to frustration as other children with a communication difficulty and temper tantrums and aggression can present carers with challenges." My son was defiantly frustrated with his communication difficulties and tantrumed until he was 7 because of the speech impairment.
Also "Behavior within the autistic spectrum has been reported both in the published medical literature and in a number of Unique children. Some children do not have a diagnosis of autistic spectrum disorder (ASD) but show some autistic tendencies or traits." My son does had an ASD diagnosis, and has many of the traits like unable to make eye contact and repetitive behaviors. I finally have some "significant clinical data" to provide the Genetics counselors with. Amazing how a Google search can turn up an article that is significant to my sons diagnosis.

The other link is helping, and provides similar information. "MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity)." All except the last 2 fit my child again. 

I wish I had a dollar for every time I taught a doctor something new. I guess they just don't Google in med school. I am going to print out copies of these articles and mail them to the medical professionals who failed to provide me ANY "Clinically significant" information.