Final genetic test came back

rebeccabaltimore and more · #1 June 17th, 2009, 03:39 PM

So in addition to an autopsy, we had some genetic tests run, to help determine why we lost Ethan. Most of the tests came back (negative) months ago, as well as the final autopsy results, but we were still waiting for one more (we knew it would take 10+ weeks). On the basis of the autopsy report we decided to TTC last month, but the possibility of a positive still made me nervous - if Ethan had it, we were carriers and could pass it on to future children.

It came back - and it was negative!

We'll never know with 100% confidence what made Ethan so sick. The doctors are all pretty sure his birth defects were caused by my undiagnosed, untreated diabetes. But there's no test for that, so I guess we'll never know for sure. But I'm happy with being mostly sure that it is something I can prevent in the future than being completely sure it's something that can be passed on.

Trish36 · #2 June 17th, 2009, 04:01 PM

That is great! Now at least you can rest assured that it's not a genetic issue and it won't happen again.

starrsgirl · #3 June 18th, 2009, 05:12 PM

That is such a relief. If you don't mind me asking, when did you get diagnosed with diabetes? Was it only after you had the loss? How did they even know to test you? Which type do you have? I'm really interested in this kind of stuff. I have PCOS myself which puts me a higher risk for gestational diabetes and/or diabetes later in life. (plus, it runs in my family).

rebeccabaltimore and more · #4 June 18th, 2009, 06:22 PM

I was diagnosed with Type 2 diabetes at 17 weeks gestation. Ethan was born one week later. They think I had been diabetic for at least a year, but because my pancreas is still pretty functional, I had no symptoms and no clue I was diabetic. I was diagnosed because my urine sugar count was very high - I was in L&D for severe morning sickness, and they just happened to test my urine. So they then checked my hemoglobin A1C and sure enough, I was diabetic. It turns out that my severe morning sickness was caused in part by the diabetes, but they couldn't tell because, well, pregnant women throw up a lot! I have PCOS too, and it's probably related. I actually needed a diabetes drug (Metformin) to get pregnant.

It's all so frustrating because ultimately the diabetes cost my son his life. Glucose crosses the placenta, but insulin doesn't. His poor little kidneys just couldn't take it. Now I'm an advocate for preconception diabetes testing for anyone at risk. Glucose tolerance tests aren't done until late into the second trimester, but a simple hemoglobin A1C test can give you a pretty good idea if you have a blood sugar problem.

Kary♥RN · #5 June 18th, 2009, 06:33 PM

Rebecca that is great news.... I hope the metformin helps to get you that bfp!!! As for your aboive post.... KUDOS to you girl!!! Thier is so much they can do to lessen the losses that we have!! I think when you go to the Dr. for your yearly the Dr should ask are you thinking about kids? From this they can run the HgA1C, Check your levels, if you need suplements they can start you on them from the begining. PROACTIVE!!!!! What is it a few tube of blood?? To cut down on maybe just one ladies joining this board? You have a great idea... they should be rallying to test women..

rebeccabaltimore and more · #6 June 18th, 2009, 07:01 PM

Exactly! The A1C level isn't hard at all! Fortunately, my diabetes nutritionist says that within the year the A1C test will become a diagnostic standard for diabetes in addition to the glucose tolerance test.

I'm actually on insulin right now (and will be for a long time), so I don't have to take the Metformin this time around, which is good because I didn't tolerate it well. The doctor said that because Metformin and insulin do the same thing, it doesn't matter which I take for fertility.

starrsgirl · #7 June 19th, 2009, 01:15 PM

Rebecca, Thanks for sharing all this info. I currently take Metformin and know that I'm at risk for diabetes but have never heard of this other test before. I actually didn't know either that you could have diabetes and not really know it yourself for so long. I'm definitely going to ask to be tested for this A1C levels thingy. Since it looks like we didn't get pg this cycle, I should be setting up a preconception visit with a specialist soon...I think I will bring it up. I also didn't know anything about how diabetes can affect the baby. I only knew that babies tended to be bigger birthweight if you have diabetes. This is so interesting and important! You would think with the diabetes rate/risk in the U.S., they would have implemented this check much sooner.

rebeccabaltimore and more · #8 June 19th, 2009, 02:58 PM

It's frustrating, because Ethan's death was so preventable. Because I'm so young, and had no symptoms, no one thought to test me for non-gestational diabetes. So I'm telling EVERYBODY I meet that is TTC to get checked if they have risk factors. I just want to make sure nobody ever has to go through what I did.

ThisIsJess · #9 June 19th, 2009, 08:11 PM

Hey, my sugar lvls were high when i was pregnant with Roman, and i gave birth that same week my sugar lvls were tested, i got a feeling i have undiagnosed diabetes aswell! they say i have to get checked for it now anyway because of the high sugar lvls, so we'll see what comes of that, i have never been tested for diabetes 1 or 2, my grandpa has it, but i am getting tested soon, if i have it, it could also explain maybe why i went into early labor, and then i will have a cause instead of unknown.

I'm glad you are raising awareness about this! and it has definetely made me want to get tested sooner, as i plan to ttc around january, so i have some time to work this out first

Kary♥RN · #10 June 19th, 2009, 08:41 PM

Quote:

Originally Posted by starrsgirl

Rebecca, Thanks for sharing all this info. I currently take Metformin and know that I'm at risk for diabetes but have never heard of this other test before. I actually didn't know either that you could have diabetes and not really know it yourself for so long. I'm definitely going to ask to be tested for this A1C levels thingy. Since it looks like we didn't get pg this cycle, I should be setting up a preconception visit with a specialist soon...I think I will bring it up. I also didn't know anything about how diabetes can affect the baby. I only knew that babies tended to be bigger birthweight if you have diabetes. This is so interesting and important! You would think with the diabetes rate/risk in the U.S., they would have implemented this check much sooner.

Hg1AC Shows what you blood sugars have been over a two three month period. And how the body was able to adjust to it.. with the bodies own producing insulin. They like to see the number below or equal to 6- 6.5 %.. This number shows that the body has been maintaining thier blood glucose at a healthy level.. without having Hypoglycemic issues. I think this test should be done yearly... on every one!!

KDD · #11 June 20th, 2009, 07:55 PM

I'm so glad that all the tests came back negative Rebecca. I totally agree with you on the diabetes testing. Thank you for putting it out there for everyone here to see.