MCAD Deficiency?

thejessicanicol

DH and I chose not to do the PGD testing (is that what it's called?) in November because we thought we are so young and have no genetic issues in either family that we would be okay. I miscarried the beginning of January. We come to find (and by accident) today that his lovely sister had genetic testing over a year ago and her only option is IVF and has to do the testing. Even though we told her about starting IVF she chose to not tell us about her results but I guess that's another problem. We learned that MCAD deficiency showed up in her results. Of course I'm going crazy reading about this thing. I guess it's when the body doesn't know how to use the fat you eat so it gets stored in the liver and in the brain. It is one of the causes of SIDS so it sounds serious to me. We're meeting with our RE tomorrow to find out the results of testing the baby after the D&C but has anyone had experience with this MCAD thing? Can it cause miscarriages? Our RE won't test our remaining 3 frozen babies but I don't want to just throw them away.

Any personal experience would be fantastic! And please please please always do the testing. Family members don't always share important health information it turns out.

chicandbubbly

I don't have any experience with this but I just wanted to offer some support. Have you found out if you are carriers? Just because his sister has it doesn't necessarily have anything to do with you, and I believe in order for this MCAD deficiency to occur it has to be in the genes for both parents. I hope you get some answers from your RE!

thejessicanicol

Our RE had no answers for us and now we both need to get tested for this thing. We also don't know why IVF is the way she has to go so DH needs some more testing since she won't give us any info. Gotta love all of this we go through!

KilgraveMadeMeDoIt

Does she actually have MCAD deficiency or is she a carrier? If she's a carrier or affected but her partner isn't, there's no chance of the children actually ending up with MCADD - they have to get a defective copy from both parents. Just because she is a carrier doesn't mean it's a sure thing your husband is, and even if he is a carrier, you would have to be too for there to be a chance for your kids to be affected. 

I'd not heard of MCAD deficiency being associated with miscarriage; it's an error of metabolism that only affects an individual when they go without eating. Since the foetus is essentially continuously fed, there wouldn't actually be issues during prenatal life. It doesn't usually show symptoms until well after the baby is born which is why it's often part of newborn screening. 

I'm guessing if you're going to be tested, you'll be seeing a genetic counselor. They should be able to answer all of your questions. Good luck!

thejessicanicol

We aren't sure if she's just a carrier or actually has it. We also aren't sure why she has to do IVF. She refuses to tell us anything. DH will see a genetic counselor but of course it's another thing not covered by insurance -_- Ugh