Wednesday, 23 July 2014

Autism and developmental delay in our genetic makeup

Ever since my son was diagnosed with Autism and Developmental delay you can't help but wonder if it was something I did that was bad, and if the rumours about thing such as vaccinations were true.  Maybe there's something wrong with my genetic makeup, or my husband's.  Maybe

I saw the paediatrician and she recommended we do some blood tests which I was rather ambivalent about. I wasn't particularly thrilled about taking him for blood tests but I did them eventually with the help of EMLA that I pinched from work, and he was brilliant and didn't even flinch when they took his blood, much to my relief.  The usual blood workup for autism was done which included a whole bunch of metabolic tests, endocrine tests (including thyroid function) and general bloods as well as some genetic stuff.

Yesterday my paediatrician called to discuss the results, and she told me that there were some abnormalities in his chromosome microarray, which is a test looking at his DNA to see if there were any deletions or duplications.  And they found that he had a "heterozygous duplication within chromosome band 15q13.3 which involves only one gene CHRNA7".

The report stated that a large study had found that this particular duplication is associated with ADHD (Attention Deficit Hyperactivity Disorder) though my son doesn't have that, but another study said that duplications in the 15q11-13 segments were associated with autism, especially if the duplications were on the maternal side of the chromosome.

Even more concerning to me is when I read all things like this:
The recurrent 15q13.3 microdeletion/microduplication has been reported to cause mental impairment, autism spectrum disorder, facial dysmorphism, seizures and epilepsy...Some of the common clinical features of the BP4a - BP5 ~500 kb deletion were speech delay, developmental delay, ADHD, aggressive behavior, ADHD, and hearing loss. None of the three deletion cases were reported to have either seizures or epilepsy. Phenotypic features of individuals with the ~500 kb duplication include growth delay, midface hypoplasia, speech delay, mild autism and one case exhibiting seizures. Further studies are needed to determine whether CHRNA7 duplications are more likely polymorphic variants with little clinical significance or possibly causative with incomplete penetrance and/or variable expressivity. These results suggest that the deletion/duplication of the CHRNA7 gene by itself may not be sufficient by itself to cause seizures and epilepsy, and may instead be a susceptibility gene related to speech delay, ADHD, autism and aggressive behavior.
There's even a pamphlet on that particular gene duplication!

Looking at that, what does that really mean?  I know that genetic things have incomplete penetrance, so people having this gene don't necessarily get autism, but it makes me wonder for the future - is my son going to pass autism down to his children? If I had known I had a defective gene would that affect my decision to have children even though the chance of anything happening is small?

I find it remarkable that genes are like computer programs or files. The files can copy incorrectly, have errors, have recurring segments or deletions - and in a computer program or file it may have no impact at all, or it may have a massive impact.  I feel lucky that the impact on my son seems small - looking around at other children who have duplications in those regions, they could have ended up with major developmental abnormalities, retardation and poor physical development.

So what does it mean in the present moment?

It means I need to go speak to a geneticist to figure out if I need to do any further tests on my son, or even myself and my husband to see if this thing has any relevance. If either he or I have the same duplication then perhaps it's just an incidental finding that isn't associated with anything as neither of us have autism or developmental delay (that I know of!).  But obviously there is no treatment (nor would I seek one) because my son is going along just fine at the moment.  Makes me wonder in the future when he's grown up and his partner wants to have children, what would they think of this? Though if my son grows up and has no impairments or disability then it would probably not mean anything and he could go on living a normal productive life.  Which is all a mother could hope and dream for!

Saturday, 5 July 2014

Game of Thrones Exhibition in Sydney July 1-5

Reblogged from The Daily Frostwolf

The opening day of the Game of Thrones Exhibit (Tuesday 1 July) held at the Museum of Contemporary Art (MCA), Sydney, reported queues as long as 6 hours. They were not joking. I had resigned myself to not seeing the exhibition because I was planning to go to visit my parents with my children during the school holidays.  But on Thursday night one of my friends called me and asked me if I was going to see it, as he had taken the day off on Friday to go and see it and wanted me to come with him.  He said he would be there at 8am (exhibition opens at 10am) and I spoke to my parents and said naively "I should be able to get in at 10, be done by 11 and then we can drive to your house."  They told me to go enjoy myself. Well.... So I hopped on the train and got into the city at about 815am, and I could see from the train station the huge queues in front of the MCA already.  He was a minute or two ahead of me and was heading to the line so I went to meet him.  It was already REALLY long and getting longer.  Lucky we got into the main line.

Snaking queue in front of the lawn of the Museum of Contemporary Art - not unlike herding sheep
See the bike next to the orange barrier?  That's the queue to GET into the queue! 2nd queue along harbourline
All my good intentions about bringing a book to read had gone out the window in my dash to get out this morning (not to mention, terribly antisocial for poor Shab), and I couldn't find my Brookstone charger so I couldn't charge my phone or camera whilst sitting around, which meant I couldn't do much web browsing or game playing on my phone either.  But my friend and I just chatted away for hours as we progressed through the huge line. I think it's the longest time I'd spent talking to my mate, and luckily we had heaps to talk about - or at least I did.  It was fun talking WoW, work, cartoons, comics and Game of Thrones stuff. And there were a few cosplay people outside entertaining the crowds!

We got to the "3 hour wait" sign at 1:40pm, the "2 hour wait" sign at 2:20pm, and the "1 hour wait" marker at 3pm and the "30 minute wait" mark at 3:15pm.  We finally got INTO the exhibit at 3:55pm. There were 2 mini queues (they were nothing compared to outside's line) for pics on the Iron Throne, and also for the Oculus Rift 4D experience on The Wall.

The replica Iron Throne.  Looks good in pics, but up close it's VERY plastic!
The virtual reality experience of ascending the Wall with wind blowing on your head and being shot by flaming arrows!  I have to admit, I was skeptical about trying it but it turned out to be rather cool. That 4D Oculus Rift headset was pretty realistic and you could look to the sides and up and see stuff.  When I was shot with the flame arrow in the chest, I was automatically trying to put it out!
All the costumes were amazing.  So much detail and work went into them!

Costumes for Sansa Stark, Prince Oberon, Marjery Tyrell, King Joffrey Baratheon and Cersei Lannister
Tyrion Lannister's outfit next to Sansa's dress
Brienne and Jaime (after he lost his hand)
Arya Stark and The Hound (and her wooden training sword used with Syrio)
Ygritte's furs and John Snow's leathers
Two of Daenerys Targaryan's outfits
Melisandre and Stannis Baratheon
The props were all quite memorable too!  It was cool seeing some of the things that you remember from the show.
Eww pretty realistic looking prop of Jaime's severed hand
Obsidian blades, Ice picks

Verdict: Awesome exhibition, especially considering it was free!  But worth an 8 hour wait?  I don't think so! Saturday is the last day (5 July) and I hate to think what kind of crowds it will generate then.  I wonder if they had booked tickets and the exhibition had cost something (man, they could have RAKED in the cash with this one), the crowds may have been a lot less. All up it was a good experience (though hours of my life I will never get back) but at least I had a fun time with Shab.