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Old 10-21-2013, 06:34 AM
Myelogirl Myelogirl is offline
Junior Member
 
Join Date: Oct 2013
Location: Australia
Posts: 52
10 yr Member
Myelogirl Myelogirl is offline
Junior Member
 
Join Date: Oct 2013
Location: Australia
Posts: 52
10 yr Member
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Hi Doc. I'm on a Forum for people with bone marrow diseases as well and one of the Forum members is a small town newspaper publisher/editor and dogsbody. He once wrote a sentence I just could not decipher and as he was usually very easy to understand, I assumed he was using publishing jargon.

I quoted the sentence back to him and apologised for my ignorance because I didn't understand. He was embarrassed because he had unwittingly inserted an advertisement for a sewing machine attachment he had been checking out for his wife.

It's a bit late here and my antispasmodic is kicking in so I'll get to the point before I become incoherent.

I have a part of chromosome 15 q missing. It's actually called del 15q11.2 and there are break point references as well. There are something like 500kbs of genes missing. This specific chromosome deletion is associated with autism, aspergers and schizophrenia. Some people with this deletion are either not affected or mildly affected and some are profoundly disabled. They have not been able to determine why it affects some more than others. I have applied for and been accepted into a research study being conducted by Associate Professor Brett Abrahams (geneticist) at Yeshida (sp) University in New York.

I'm still dithering at the moment though because I need to persuade one of my friends to provide a saliva sample for DNA and to undertake Brain Game testing (Lumosity). This is because they need people without the deletion for comparison/reference points. I don't really have anyone who is willing to participate. To Dr Abrahams credit, he invited me to participate anyway because I have the exact gene break points that's he's studying.

I really must stop procrastinating and sign the consent form and send it back.

Anyway, I have always been socially inept and communicate better in writing than verbally. I quite often can't think of the word that fits a certain situation at the time I need it. I tend to be blunt even though I'm not trying to be rude. I can read people's emotions and I can read facial expressions. I do feel sympathy and empathy although I find it hard to express it. I don't like physical contact very much and I have to work very hard to do the "let's have a group hug" thing. I always worked better by myself than in a team. Those touchy freely, group therapy team building weekends used to freak me out. I never once in my entire working life attended a social function that was work related. No Christmas parties, no baby showers, no retirement parties etc. on my last day at work when I retired, I didn't tell any one I was leaving and at the end of the day I just popped my work mug in my handbag and walked out and never went back. I had been in the same job for the previous 26 years.

I was once referred to a Neuroscience Clinic for assessment to determine a specific diagnosis but when I hadn't heard from the clinic for 6 months, I rang them and found out that they had decided not to accept the referral. Consequently, I have never been assessed. I have just added my chromosomal abnormality to what little insight into my own personality that I have and came up with mild Autism or Aspergers. I don't think that my life will change with an official diagnosis but if participating in this research study reveals something useful for others it will be worthwhile.

Doc, I hear you when you say that you feel as if you are not quite as sharp due to meds and damage. My cognition is definitely deteriorating. I have done a couple of IQ tests in the last few years and my IQ is definitely declining.

Really, have to sleep now. One very beneficial side effect of antispasmodics is the sedative effect.

G'night.
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