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Frustration, symptoms, and what age trying to finding a diagnosis is given up

Posted by on Sep. 14, 2011 at 10:04 PM
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Sorry if this is many questions in one post! But any answers or personal experience would be appreciated! :)
Tegan is just over 2 years old so I realize this is a young age to already be frustrated with no diagnosis, but I am so confused.
Tegans seizures stopped with meds at 7 months of age, no underlying condition has been found yet. She did receive an autism diagnosis by her pediatrician...but I am still not sure if this is just to get us more services or if she is really autistic. She shows the majority of the spectrum signs, but I realize a lot of children with global delay can appear to be autistic, but are not.
Tegan had a follow up today with her neuro. He told us her PET scan was not completely normal and that the left side showed a subtle difference from the right. But that was all he had to offer...he said is not a big difference. What does that mean?? He says she is still prone to seizures, but the older she gets, the better chance we have of seizures not returning. Then he goes on to say there are hundreds of genes to test, but unless she shows more symptoms, we just keep going the way we are. I just don't get this and dont know what to do with this info. At what age, if no diagnosis is found, do docs just "give up?". Ae there lots of kids that go through life with a global delay diagnosis only? And when can a differentiate between symptoms that are autism or if they are just part of her global delay?

Sorry for all the questions! Any advice will help!!
Thank you!
by on Sep. 14, 2011 at 10:04 PM
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by Member on Sep. 14, 2011 at 11:06 PM

I had a "normal" kid until age 3, but had a ton of tests done on him because they thought there was something wrong...but we eventually ran out of things to test for as he didn't display any symptoms other than global delay.

Then he got really sick with some viral infection and a few more tests yielded a diagnosis.

I don't think its a "giving up" as much as modern medicine just doesn't have the right tests to do yet.  But I would follow up on those PET results and maybe get an opinion from a developmental pediatrician on the possible autism.  It may be a way to get you more services, and that in and of itself may not be a bad thing if she really needs the services.

by on Sep. 16, 2011 at 9:15 AM

The human body is a very complicated creation & when things are not obviously wrong, it can be difficult to tell what is & is not a significant finding, especially when it comes to the brain, because the brain is "plastic" & can adapt or function around what looks like damaged tissue, and the younger the brain, the more likely it is to adapt.  This is why the neuro can't really give you more information about the PET at this time;  Your DD is very young & so much can change in a very short period of time.

Testing genes is really a crap shoot & if you don't have any clincally significant features to associate with a specific gene or gene sequence, you could be looking in the wrong places for years, so, as long as an individual is medically stable, it's often much better to treat symptoms as they appear & just wait to see if anything clincally significant or identifiable is going to show itself.   

In my experience, docs don't give up unless/until you let them.  When your doc says he can't take you any further or you get the feeling that you can't go any further with a particular doc, then you may need to find another doc, but giving up is always your choice, not the doc's. 

We didn't get a final diagnosis on our son until he was 15 years old because we had to wait until medical science caught up to him.  The year he was diagnosed is the same year the test that identified the gene became available.  Up to that point, though, he was given the diagnosis that most closely matched his symptoms to get him the services he needed, which was fine by us as long as it was to his benefit & he continued to make progress.  During the time we were searching for a diagnosis, we did take breaks from testing & looking, but we never totally gave up, and neither did my son's specialists.  New tests come out every year, so every few years we'd consider what had come out & decide if any of it might apply to my son. If something did, we'd test.  As he got older, we chose to limit testing to the least invasive possible (typically a blood test) unless it was suggested that the more invasive testing would yield important & significant findings.  We got lucky & it was through a blood test that my son was finally diagnosed.

It's frustrating & makes you angry.  You want to scream in someone's face & shake the answers out of them.  It's difficult to understand how, with all the strides we've made in medical science, we cannot know what is wrong or how to fix it.  As frustrating as it is for us, we must remember that it is just as frustrating for our child's doctors.  They want to help & they don't like feeling helpless any more than we do.  Small comfort, I know, but there it is.


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by Member on Sep. 19, 2011 at 9:49 AM

I just saw this link which my provide some helpful hints:

by Member on Sep. 26, 2011 at 3:42 AM

What are some of your child's other symptoms? For example does she smile "alot" and flap her hands and arms? Is she fascinated with water? The reason I ask is my daughter has Angelman Syndrome and sometimes it is misdiagnosed as autism. Seizures are really big with AS also. My daughter was also globally delayed.

by Member on Sep. 27, 2011 at 11:26 AM

my daughter is 25 now/ and we still do not have one. i think we( us and her doctors) quit testing when she was about 10. she has wide spectrum of things but not enough to say this what is it. we had thought about having her retested since medicine/testing has come along way her's were done, but in the end we decided not. we just didn't want to put her back through all the crying, stressing, ect. the big question-would it really change anything if we did have exact? the answer to that is no.  there are alot of kids/adults that just don't ever have one.

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