- Pregnancy
- Baby & Toddler
- Parents
- Getting Pregnant
- Baby Names
- Product Reviews
-
Registry
- Community
-
More
Want a personalized experience?
Download the free app
1st Trimester
Genetic Testing. Very upset and confused
I had my blood taken 2 weeks ago. I just called for my results and the receptionist listed 3 genetic diseases that I am a carrier for and told me my husband needs to be tested and then starts discussing genetic counceling. I asked what the diseases are and she had no idea and the Doctor won't call me till after 7. I don't think this is OK and I am freaking out.
She also informed me that I have a urinary tract infection and that they are calling a prescription in for me. How do they tell me until 2 weeks after my appointment that I have an infection.
Can anyone shed some light I am so upset.
This discussion has been closed.
Re: Genetic Testing. Very upset and confused
Ditto all this. GL!
Yes but I do not think it's appropriate that a receptionist is giving me this information and that there's no nurse on staff to talk to.
Well, the receptionist doesn't pick and choose what to tell you. All she probably did was read off the note the doctor/nurse left for her. I know you're scared, but don't let that get you upset at the wrong person.
Take a minute and take some very deep breaths.
Being a carrier for any genetic issue does not necessarily mean your baby will inherit whatever it is. Your husband would also have to be a carrier and even then there is only a 1/4 (25% chance, not certainty) that your baby would inherit the disorder. Twenty five percent is very low if you think about it. Also, if your husband tests negative as a carrier for the same things then you are in the clear.
The UTI they should have alerted you to even if you don't have symptoms.
I know its hard not to freak out right now, but please keep in mind being a carrier does not doom your baby. Sending you lots of positive thoughts.
LFAF Summer 2016 Awards:
Thank you for your kind words and advice. I understand it's a low risk... that makes me feel better. I think I do need to find a new doctors office. I think it's very strange that a receptionist is allowed to give blood results. She immediately said I need "genetic counseling" which I don't think I do unless my husband is also a carrier. I also don't understand how there is no nurse available at the practice. She also told me they are calling in a prescription for the UTI and had info on the medication I need to take. I feel uncomfortable with the way things are being managed there.
I agree with OP if the receptionist is not trained (which clearly she isn't) in the medical field and can't explain the diseases to OP then she should have said she would have the nurse call her back. When I call my OB or my children's Ped and I have a question about anything other than billing or insurance only the nurse or doctor discusses anything medical with me.
I disagree with other responses here. I don't think its appropriate to call with half information. Its one thing to say you had some abnormal results and they need you to schedule an appointment but what is the point in some nurse giving you halfa** information if the doctor is going to call you later anyways. They could have just waited until then that they could give you all the information you needed.
As for the UTI they can get out of hand very quickly 2 weeks is way too long to not know you have one.
Personally if you have the option, I would be seeking a new doctor.
Make a pregnancy ticker
To the bolded, this would be true if the doctor's office had initiated the phone call, but OP states that SHE called for her results. So the receptionist was probably just doing her most to help OP, though she probably should have just said "I'll have the doctor call you" instead of giving her just minimal info... it's a No good deed goes unpunished kinda thing
And it can take the lab 2 weeks to get results back so it's not unheard of to have waited that long, though they should have called you when the results came in positive.
BFP#1 10/1/2011. Our perfect little girl, Her heart stopped @ 12w1d. D&E 11/23/11
BFP#2 3/13/12 Weird CP/Possible EP @ 6w0d
BFP#3 5/28/12 CP @ 5w0d
BFP/WTF#4 10/26/12 CP
BFP#5 12/10/12 EDD 8/23/2013
I stand corrected I missed the part that the OP called and asked. However I still think the nurse should have had the doctor call or have the OP schedule an appointment to speak with the doctor in person. Rather than give her incomplete information
THANK YOU! I was starting to feel like I am crazy. I do not think a receptionist should be giving any of this info at all. I am going to find a new doctor today.
Yes I called but she should have told me the Doctor would call me back. Also they had the results yesterday and never called me. I get genetic testing takes time but i should have known i have a UTI way sooner.
Married August 2012. Me: 41 DH: 42
Daughter from previous marriage: 20
BFP 12/19/12: Ectopic discovered at 8 weeks, right tube removed 01/18/13
June 2013 Testing Results: Progesterone: 31.7, LH: 5, FSH: 5, Estradiol: 161
Clomid cycles Nov. 2013 and Jan, Feb, and March 2014
TTC journey over as of the end of October 2014
TTCAL BLOG
All ALers welcome!
not true you can have one and not have any symptoms, it can spread to your kidneys and you still not know. I realize this is an unlikely extreme, but a friend of mine died from a UTI because she didnt know she had it
[edited bc the bump ate my post].
As a repeated UTI sufferer, I can tell you this is not always true. I have had multiple kidney infections that didnt have any symptoms other than frequent urination. As a pregnant person, I wouldn't have thought twice about this because I'm going all the time anyway. Untreated UTI's can quickly turn into more servious kidney infections.
The tests are usually done in office anyways, and if they do send them out, they do not take 2 weeks. I think the office is just slow and dropped the ball... I would probably be pissed as well. Who knows how long it could have gone untreated if she hadn't of called them.
I agree. The doctor just called me and told me "That message was supposed to be given by assistant who is in her last year of nursing school." I said to her "well it wasn't, and I found the receptionists info very alarming." She did not apologize. She said in terms of the infection that they always test at the first appointment and since most people don't have one when they come, they don't get the results for several weeks. I am not thrilled with this response either.
I found this doctor to be cold during my first appt and while she was helpful just now in explaining that the chances of my husband carrying the same diseases are very low etc... she was still pretty cold.
I think the best thing is for me to find a new practice where I connect with the doctor more.
Eh. You called her and she did her best. And the doctor was going to (and ultimately did) call you later that same day. I am assuming you've never had any chronic or major medical issue before. I have a fairly major autoimmune disorder (and have had for over 10 years) and this is pretty standard. Unless something is horrifically wrong, a receptionist/nurse calls with test results and tells you what to do next. If a doctor made all those calls (and there are a dozens every single day), she would be less available to her patients in-person. If it were an emergency, you would have been told. It wasn't. Of course it was important and stressful for you, no one denies that (and you have every right to feel that way). But have some perspective.
If you are changing practices, I would be very upfront with your new provider that you expect the doctor herself to be making the calls to you.
Baby Name Popularity by State
Currently Reading: Don Quixote by Miguel De Cervantes
That's kind of a *** move.
I did reception work for years in a different medical field and all I ever did (and was instructed to do) was to tell people that, yes, test results were in, and that the doctor would call around X o'clock to discuss the results. The receptionist isn't a doctor and isn't even faintly qualified to interpret results. If ever I was REALLY pressed by a client, I would read them the exact numbers from the results but offer absolutely no interpretation of what they mean and stress that to the client.
You are snarky and it's unnecessary. If you don't have anything nice to say, don't go on the internet to say it.
Honestly, if the receptionist hadn't given you any info I guarantee your post would have been a vent about how you called and they won't tell you anything until the doctor can call you back at 7. That's so late, etc, etc. I think you're over-reacting a bit.
You should go to a genetic counselor. All they do is look at probabilities and talk to you about testing and what the different diseases are and they are very reassuring about things (at least that's been true for me). Most recessive genes aren't super common and as a previous poster mentioned, even if you are both carriers, the chances that your baby will be affected are 25%. Also, genetic counselors often know the cheapest way to get full sequencing done (which is what you'll probably want since you are a known carrier - you'll want to know about ANY deletions/additions/mutations not just the most common ones) and doctors don't since it's not the main thing they do.
It's not fun to be in limbo - so call the genetic counselor, cause getting your husband's results is going to take at least a few weeks and you can't test the fetus until you have his specific gene mutation (if he has one) as well as yours.
Good luck!