Terrified... Geneticist referal is being fast tracked.
I am pregnant and just got a phone call that I am being referred to a genetics team at the provincial hospital. I have autism in my family and am 18 weeks pregnant. All the sudden someone finally listened to me and now it is on fast track. They want me in by the end of the week. They are even seeing me before my mom comes up with the documentation for my siblings diagnosis papers. Has anyone ever dealt with this sort of thing? I don't even know what to expect!
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I am well aware of this being
I am well aware of this being that I have 3 autistic siblings I was more looking for those people that could tell me relevant info as to what to expect not common knowledge. I am sure the genetic Dr I am seeing is well aware of this as well.
I am unsure exactly why this is being pushed and what is done with this sort of thing being that it cannot being screened for. I find it fairly concerning that they are pushing to see me so quickly with the lack of knowledge on etiology of autism.
Hard to answer without more
Hard to answer without more info. Did you your Quad screen come back abnormal? Did you have any prenatal genetic testing done on you and your husband? Did you have the maternal fetal DNA test for Down syndrome? A family history of autism should not be enough to get you fast tracked. An abnormal test result would.
Oh and are you 35 or
Oh and are you 35 or older?
There is no genetic test for autism, as you know. Actually there aren't even any clear risk factors, aside from older age of dad. That's why I am wondering if you are being sent for a different reason...
I am 27... no age issues I am
I am 27... no age issues I am hearing though that they can do chromosome testing.... Not sure if that is valid. I think the concern is just that I have a high prevalence in my family. Mom and 3 siblings diagnosed, a cousin who is on the spectrum again from moms side but not sure of her exact diagnosis. What I do know is that twin studies have found a high genetic prevalence but I was aware that a genetic marker has not been found. This is not for Downs I was told my ultrasound was fine...
Well keep us posted. I work
Well keep us posted. I work in the medical field (not an OB though). I am not aware of any chromosomal test for autism. Down is diagnosed with a combination of ultrasound and quad screen traditionally. New maternal fetal blood test is MUCH better but it is new so has not been widely adopted outside major medical centers yet and sometimes there are issues with insurance.
Usually a genetic counselor will gather a good family history, and DNA samples from you and DH will be used to look for recessive genetic diseases like cystic fibrosis.
I will keep my fingers crossed for you.
I did not request one my
I did not request one my family physician reffered me to one and now I have no clue what to expect. And trust me I realize what a blessing my family is. However, that does not mean I would wish to have a baby with autism or think that is better by any means. It is just scary going through especially when my baby is not even born. I am concerned with how seriously this is being taken it makes me feel like there is already something wrong. On top of that I don't understand why I am seeing a geneticist because it seems nonsensical to me too.
I spoke with my nutritionist
I spoke with my nutritionist as to the fact that I have some concerns with my family hx and what her feelings are on the gluten free diet. She spoke with my dr who is now referring me to a genetics team.
I have concerns with my pregnancy and my family physicians apparent lack of knowledge with prenatal care. I have spoken with her about my concerns and possible ability to get reffered to the city being that I have been having issues with weight gain and infections and being on antibiotics for about 50% of it. That being said it has nothing to do with the autism referral so sorry I should have been more clear. Just overwhelmed and not thinking straight. I was hoping to deal with someone who had experience with family prevelance of autism. I am assuming that is what a geneticist can help with just am unsure because when I ask what to expect I don't really get a straight forward answer.
This is standard if care for
This is standard if care for older moms due to increased risk of Down syndrome and other chromosomal abnormalities as we age. May very well be what happens to OP, but would NOT be a test for autism. I am glad you and your BD are fine though
I suspect that your frantic
I suspect that your frantic questioning has prompted your family Dr to refer you to cover himself professionally. John Edwards made a boat-load of money defending people who feel their Dr did not 'do enough' to check for genetic/birth defects. This prevented them from being 'informed' and making a choice to abort or carry the child. Malpractice pays uberbucks. Hence some areas of the USA do not have enough OBs. They seriously cannot afford it.
Calm down and consider that this child was conceived for a reason.
you have a good point
you have a good point
Think about the rash of tests
Think about the rash of tests that are run for everything under the sun in case 'something' is missed and malpractice insurance has deep pockets. Often they are just covering themselves.
If they are concerned about the number autistic people in your family (to one degree or another)maybe they want you to be part of a study asnd maybe want to check if you meet the criteria.
This is true if I am
This is true if I am traveling long distance to be asked be part of research they are going to know the wrath of pregnant anger all to well lol so I hope not although it would be a relief to a certain degree.
This is quite possible.
This is quite possible.
I did not request to get
I did not request to get reffered to a genetics clinic and I have asked 2x now what to expect with no real answer... I am confused as to what it is and why they are trying to be so speedy about it. Autism cant be tested for so I am a little surprised to say the least as to what is going on here. The only thing I have asked for is to possibly be reffered to a OB being that I am underweight and have a family hx of autism. I also have concerns with my inability to stay healthy throughout my pregnancy and the fact that I have been on antibiotics for a large percentage of my pregnancy. This was in hopes that a OB may be more aware of lifestyle changes that I can employ to lessen the chances of having a severly autistic child. An OB may have a better idea of what I could be doing to avoid the infections that seem to have been plaging me. I have made some diatary changes for example. That being said the genetics referral came completely from left field and surprised me being that there isn't genetic testing for autism now I am wondering if there is new researched I have missed? I just don't really understand the urgency and what exact it is that a genetics clinic does. This is my first baby and a new world.... also the first time I have heard of a genetics clinic period. It is a big surprise since it is something that I don't recall my mom ever doing either even after having 3 autistic kids and 2 ADD.
I am frantic because I have never heard of it... no one can seem to clarify this question.
Excuse me?! There was never
Excuse me?! There was never any question as to whether I want this child who the hell do you think you are to even suggest that. The fact that you presume I would abort a child based on a disability is disgusting. It is also a HUGE insult to suggest this considering the fact that I find everyone in my family a blessing to world and nothing less as I posted above. As for things mattering yes they do! My mother along with many others have seen tons of success with lifestyle and dietary changes both in utero and out. I am determined to do everything I can to have the best outcome for my child whether it is vain or not. To fly into this blindly with no regard for professional opinions would be the worst possible thing I could do for the well being of my child. I will continue to ask for input from every place I can both in a natural and scientific path. And by the way I also have a disability so I am unsure what point you are trying to make there.
That being said the reason I have posted this is to understand what a genetics clinic does. When I have asked no one seems to be able to tell me what to expect moving forward. I am definitely worried about why this seems to be as important as the professionals are making it out to be. Maybe I was not up to date on developments on autism and what in general do these places do?
Originally my questioning on
Originally my questioning on what I could be doing with my diet for autism was the trigger. They have done some research into my family's disorders as well as BF's and have concerns with the autism and I am assuming some of the other things?!. At this point my doctor just referred me for the autism piece I am guessing now there are concerns based on what they have heard from my mother. I am going to call her and see what was said maybe she can explain to me what is going on. She might have more of an idea being that she has delt with diagnosing and such with all of her kids. Maybe she had a discussion I was unaware of. However, my GP only made the referral based on my nutritionists questions. I did find out today that I am being referred to a OB based on my infections and weight gain which is a huge relief!
Thank you by the way for your post it gave me a little ease. Like some others here I am just slightly confused with the autism piece. Maybe there are some advances I am unaware of.