He was born autistic!

You cannot "reverse" his genetic make-up.
so. He has a PTEN mutation that explains his autism (I said 'caused' in the vid.... poor choice of words perhaps)

Category:

Education

Tags:

• BRRS
• bannayan
• riley
• ruvalcaba
• cowdens
• macrocephaly
• autism
• genetic
• PTEN

[artescapenh]

because of the Riley-Smith syndrome my 6 year old has had a large tumor removed from inside his ear and now has a titanium implant to hear. He also has autistic characteristics although he is not autistic. He has had low muscle tone, speech problems (possibly due to the tumor) problems walking and overall developmental delay. I am trying to find a support group for this and hoping to find another parent with a child with Riley-Smith syndrome. Hoping to find someone with only that syndrome.

[wiscsuzski]

I suppose this could go to private messaging, but i hope that by keeping it public, more people might find you/us. Sources i've seen call our kids' disorders synonymous. Maybe the difference is regional? I am near Madison, WI. and You? Baylor College of Medicine in TX did the work-up for us. My biggest question for you (so I hope you'll answer) is what are you looking for in a "support group"?

[artescapenh]

My son is in the process of being diagnosed with Riley-Smith syndrome though I have been told that he is not autistic.

[wiscsuzski]

Hi. My guy had his Autistic Disorder dx first. I am not sure if his new dx (BRRS) supersedes that in terms of dsm-iv language (The disturbance is not better accounted for by another disorder). anyway, i think diagnoses overlap. My older boy has Downs , but also has autistic characteristics. Best wishes with your son. I know that it can be a little scary with odd growths, even if they're benign

[wiscsuzski]

Q: What does PTEN stand for?

A: Phosphatase and tensin homolog on chromosome 10 (10q23.3)

[drmaier]

I have what they call "family cancer syndrome." (lynch syndrome) and my autistic son has a 50% chance of inheriting this gene from me. What kind of cancer is Ezra more susceptible to?

[wiscsuzski]

Thyroid and Kidney. To this point, he has many forms of "growths", but they are all benign. I hope that he stays that way. Another related overgrowth syndrome is Proteus Syndrome. Joseph Merrick the so-called "Elephant Man" had that.

[artescapenh]

I am looking for another parent with a child that has brrs because of the lack of information on this subject. I have yet to find another child that is like my son. Although he was a large baby he always seamed to look much younger than his age. When people asked his age and I told them they would ask what is wrong with him. Eventually I started telling people he was younger than what he was so I didn't get my feelings hurt by them asking what was wrong with him. This is just one example.

[artescapenh]

All you have to do is have a blood test finished. You would want to find out about this as it causes tumors. My sons tumor was in his ear and has caused hearing issues.

[chromaxabc]

Have not found your blog but would really appreciate if you could post it?

Looking forward to more video's from you.