Genetics appointment

Kiwi13

Wed, Jul 17 2019, 7:24 pm

For starters, do they always order a microarray first? I’m concerned about false negatives of an overview test like that doesn’t pick up what’s going on. But it sounds like full sequencing is only ever done on specific chromosomes if there’s real reason to suspect that specific chromosome is the target. At our last appointment we were told that sometimes the DNA looks fine but doesn’t communicate with itself properly and that leads to problems. How would they test for that? The symptoms we’re dealing with are general enough that it could be caused by many, many things. There’s obviously an underlying cause, but I’m worried about how they’re planning to go about finding it. My experience with the medical world so far has me very concerned about false negatives and false reassurances about “nothing serious.” (This time everyone knows it’s definitely something, but I’m worried that if it gets to a point beyond standard testing, they won’t push hard enough. I’ve already been told by one doctor that very often generic syndromes are not diagnosed because of how extensive the testing would need to be, and that didn’t sit well with me.)

amother

Rose

Wed, Jul 17 2019, 7:39 pm

Kiwi13 wrote:

Don't think this will be particularly helpful to you- but will share.
I think it really depends on what the geneticist thinks needs to be tested. in our case, on 2 different occasions we had a different sequence test run to rule out specific mutations. But, we knew what we were looking for (or not- what needed to be ruled out more specificaly).
In our case the doctor we saw is a BRILIANT guy and really knows his stuff so was very helpful to just discuss all the particulars, not even davka related to genetics and what we were testing. I hope the doctor you see will be the right shaliach.
feel free to pm me for any questions.

Last edited by amother on Wed, Jul 17 2019, 8:42 pm; edited 1 time in total

amother

Slategray

Wed, Jul 17 2019, 8:06 pm

I understand your concerns but I think if you are using a highly recommended doctor you don’t have to worry about not having an accurate diagnosis.
I made sure that we used a top geneticist and felt confident with the route he took. Be prepared to wait patiently since a lot of these tests are complicated and the results can take a while ( not like a routine blood test).
Our doctor had an assistant with him the whole time who was able to answer any additional questions we had after the doctor had already left the room.

Kiwi13

Wed, Jul 17 2019, 8:09 pm

One of my biggest worries right now (maybe an unfounded fear, I don't know) is that they put us with a nurse practitioner for our first appointment instead of a doctor. Is that an issue, or is that standard? I'm not knocking nurse practitioners, but I want to make sure that she knows what she's doing. It's a reputable practice, but options are limited where I live, so I don't know how it compares to other cities.

amother

Rose

Wed, Jul 17 2019, 8:12 pm

amother [ Slategray ] wrote:

yes, I’ll second that.
We spoke first with the genetic counselor who took the full family history (be prepared to know your yichus very well.) Know how many kids each sibling has, any issues, ages etc... we then met with the doctor at a different appointment. We ended up talking with the Dr for about 2 hrs.

Last edited by amother on Wed, Jul 17 2019, 8:41 pm; edited 1 time in total

amother

Rose

Wed, Jul 17 2019, 8:31 pm

Kiwi13 wrote:

I guess every Practice is different. As I mentioned above, we first had an appt with genetic counselor. I was also concerned why we’re not meeting with the Dr. The way they work it is that full intake is done a week or 2 before appt so when you meet with Dr they already know the whole background. (We didn’t even end up going in for that appointment. We were flagged in the system as a medically fragile child and they didn’t want us to shlep in twice So was done over phone)
So I would guess that the NP you will see will do the intake. It’s very standard in many specialists to first meet with NP.

Last edited by amother on Wed, Jul 17 2019, 8:41 pm; edited 1 time in total

Kiwi13

Wed, Jul 17 2019, 8:32 pm

gamzehyaavor wrote:

Okay, that puts my mind at ease a LOT. THANK YOU!

out-of-towner

Wed, Jul 17 2019, 8:38 pm

I've been with 2 of my kids, but honestly I'm not sure how helpful I can be to you as both situations were unique and I don't recall a ton of the details.

I do remember that there was one test that the doctor wanted to do on DC that insurance wouldn't cover, so the doctor had DH and I do a different testing that would give him the same answer. They have to think creativily and dig deep.

Hatzlacha and hugs!! Hope everything turns out okay.