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SnMomof7

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Posts posted by SnMomof7

  1. That would be neat to participate in brain scan studies! Last week I passed my contact info to a primary researcher of autism related issues (mainly therapy efficacy but some of her grad students are working on other things that we could speak to) here. No brain imaging studies right now, though :).

     

    I'm keenly interested in changing the language around autism. I don't believe it's new, an epidemic, or a disease. I have an informal diagnosis myself (kids' psych keeps mentioning it), DH's father likely was, and I have many diagnosable but undiagnosed people in my family on both sides.

     

    I think what we are ACTUALLY seeing is a new, more specific, formal way of classifying an existing group of people.

    • Like 1
  2. As a follow up, one of our five DID regress (lost speech and social motivation) at the 'typical' time - again, no vaccines. The others didn't. My oldest (no regression) has a recently discovered chromosonal microdeletion 15q11.2 or Burnside Butler syndrome. She is actually missing 4 genes (edit: it's 7 actually, just got the physical copy of the test results) relating to the central nervous system. The lack of a protein one of these genes makes results in disorganized early brain structure. Her psychiatrist thinks this is why we are all autistic (and going back a few generations - we started diagnosing late because we thought our kiddos were...'normal' - for our family, they are). I can't wait to see the test results for the rest of us.

     

    Anyway, not all autistics have this microdeletion - autism is the larger lake, there are many little streams that feed it. For example, it's currently thought that 15-20% of autism has a known genetic causation. Of those cases 10% have Burnside Butler...not very many, right? Even so, that 10% of cases is still the LEADING genetic cause, so there must be MANY other contributing causes genetically. So, I think it's complicated. Causation research/theories often tends to oversimplify things.

    • Like 3
  3. I mention the pleasantness because it has made therapists and lay people alike doubt the diagnosis. Our kids are 'too happy', 'too nice', I am well known to 'smile too much' etc. I well realize every autistic person is different. I have 5 diagnosed at this point and they are all different :).

     

    One of the markers of this syndrome is 'happy'. If it's maternally inherited it tends to look a bit like Angelmans - it's very closely located - which also has a lot of smiling and excitability.

     

    Here is something to read that isn't a technical paper and is somewhat shorter;

    http://evolvegene.com/genetic-disorders-familyready/15q11-2-deletion-syndrome/

     

    It's estimated at 1/12000 occurrence

     

    Our kids are all verbal (now) - thanks speech therapy, and are all fairly high functioning. It does have variable expression, like autism, it runs on a spectrum of effects.

     

    We mostly have cognitive stuff - the four deleted genes are central nervous system related. We have one known birth defect that they told us could be a genetic disorder while I was pregnant (no tests done then for the safety of the twins). We have some stuff that could be heart related in a couple of kids that we will have to chase down (abnormal hearts in the mix of the syndrome). As always we have to watch for schizophrenia, one child has some early concerning behaviour.

     

    So...I'm glad for more testing, glad it was found, and hope to track it down.

    • Like 2
  4. My oldest DD (13 - diagnosed this fall ASD/ADHD/low processing speed/depression) had microarray DNA testing done (hospital-ordered by psychiatrist) last month and the results just came back last night.

     

    She has a rare genetic syndrome. It's likely the rest of us do too. 15q11.2 - Burnside Butler. It would explain a lot (one of our guys has a known birth defect that may require surgery). It also explains why we are the 'pleasant' autistics, which has made some people doubtful.

     

    Genetic tests all around here over the next few months.

     

    Thanks for praying and thinking of us - it feels mightly lonely sometimes.

    • Like 1
  5. Private services are far away and $$$, local services are rather lacking :/. We did start medication with this DD and it has been so, so phenomenal for her. I can't even describe it. She's less resistant, more social, and has stopped hurting herself. I am so, so thankful.

     

    EIBI is early intervention :).

     

    Over th last year we have had 5 kids diagnosed with ASD and co-morbid disorders of all kinds, I'm still adjusting, I guess.

    • Like 1
  6. Thank you all. Her doctor referred us to just see the psychiatrist, who did mention that psychotic episodes are not uncommon with ASD, sometimes more sometimes less.

     

    She did end up on an anti-psychotic used for schizophrenia. It has been such a blessing. She does exhibit paranoid behaviour. I'm just not sure when it crosses the line into schizophrenia.

     

    I will talk to her psychiatrist further however.

     

    It had been a busy year, we had two more kids diagnosed with ASD, and two in diagnostics. Our psychiatrist started genetic testing with our oldest. He has mentioned my own autistic traits several times so I may also purse a diagnosis.

     

    Cheryl: Yes, my husband's brother died young at 56 of a massive heart attack. We do have some confidence that he is now at peace and free, he had a difficult life. He had a rather severe case of schizophrenia and we lived in the same home with him for several years when we were first married.

     

    I'm so glad your children were able to access help early. Our second daughter who I am speaking of here does have many suspicions and paranoias, so I'm not ruling it out. She also has a persistent set of imaginary friends that she says she has real conversations with. It's difficult for me to say on that one.

    • Like 4
  7. Once a year I write a report for the province. It takes a few hours for each child. I look at their tests, write down any marks, talk about what we've done in mostly general terms, and...I'm done. I don't list all the DVDs, all the docs, all the...etc. I keep it pretty general and talk about the progress we've made.

     

    I dint have the brain space for detailed, daily, record keeping.

  8. I found the font was often a bad size and unadjustable. It took a long time to load. We like Tales2Go better for ease of use (our internet isn't super fast) and bought a lifetime FarFaria subscription which was much more worth it for our ages of kiddos (audio track and read along highlighting).

  9. I'm not sure where else to ask.

     

    DD2 (10) has a fairly new ASD diagnosis and this morning she did something...new.

     

    I'm not sure where else to ask. We do have an appointment for her next week where we can discuss it - and we will.

     

    She told her sister the floor was tilting, then became nonverbal and ran around the house looking scared, breathing hard, hiding under furniture, in beds, etc. and taking defensive positions for around 20 minutes.

     

    DH eventually got her to write the problem down and she said everyone had green skin, she was very mistrustful of him. He got her outside for a walk down the road and she eventually told him that the floor tilted and everyone turned green. Then she squatted in the yard and played with some sticks. After a few minutes she asked why she was outside.

     

    She lost around 40 minutes. She remembered being on the couch, the floor tilting, and people starting to turn green, then being outside playing. Later this afternoon she recovered some blurry memories of walking down the road. She asked several times what happened this morning and why she was outside. I have her a simple, non-scary explanation.

     

    DH had a brother with schizophrenia, so we are feeling concerned.

     

    I just don't know what to think :(. I've cried. Repeatedly.

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