Got some bad news from the Doc today

So my doctor's office called today but I missed the call so they told me to call back as soon as I get the message. I called back but they said the Doc was at lunch so try back in a bit. So I called back in an hour and they said they couldn't tell me anything and that I had to wait for the Doctor to call me back. Finally she called me back and apparently when they do the genetic testing for serious genetic defects it turns out I am a carrier for one of them. I'm glad she didn't beat around the bush but it's very serious and it's life threatening for the baby. Depending on the severity they can only live 2-3 years. The only way to know for sure if the baby has it is if my boyfriend goes in to get tested to see if he is a carrier as well but he doesn't have insurance so they want us to pay between $900-$1200 before they will do it. I told them we can't afford that so now the Doctor is sending us to a Perinatologist for genetic counseling and to see what other tests they will or might have to perform on me to confirm. I'm so scared and so upset right now. Sorry for the long post I just needed to get that out cause I have been crying all afternoon.

I'm sorry. That is so scary. Big hugs! I hope the baby is just fine. Did they give you any clue as to what the chances of your DH having it would be? Like, is it extremely rare and something that only one in thousands would carry?

She did say that the chances of him being a carrier as well are rare but there is a chance. And I don't remember what she said but it was somewhere around every 1 in 1,000 or so babies are born/diagnosed with it(spinal muscular atrophy).

((HUGS)) I hope they are able to find something to give you more answers. Hopefully everything will be just fine. Try your best not to stress. I'm sure easier said than done.

:lurk:

Hi. I wanted to let you know how sorry I am that you got this news. I dont know if this will help. I have Osteogenesis Imperfecta (also known as brittle bone disease). Its nothing in the realm of what your dealing with, but I do know how the genetic testing goes. They are going to go over all of your family's medical history, as well as the baby's father's. They are going to tell you the probability of the dad being a carrier, and of the chance that your baby will have the disease... or to just be a carrier... or not get a gene at all. I am guessing that your disease is recessive, and very rare. So, the chances of your baby's dad being a carrier is probably low. Also, a lot of these diseases are linked to race/ethnicity, so that is one thing they may take into account to to determine your baby's actual risk for getting the gene from both of you. They are going to offer you all types of testing, including an amnio. There are all kinds of risks with the amnio, infection, miscarriage, etc.

I completely get how stressful and scary this all is. Just take it one day at a time. Talk to someone when you need help, and get all the info you can from the doctors. A lady I worked with when I was prego with my DS#1 got the same kind of news. They were told there were going to be all these problems with their baby, and that they should abort. They chose not to, and their baby was born perfectly happy and healthy. Hang in there, and just remember, you are not alone

Oh lord I will be praying for u!!!

That is rough news to receive for sure. Miracles and surprises beat odds every day though and I hope that is the case for you!

Wow that is a tough one to deal with. I am so sorry you have this weighing on you. I would keep foremost in my mind that this is a rare disease and not many babies have it do your chances are good your doesn't. I will keep you in my prayers!

I don't know if this will help at all, but if you are a carrier of a recessive gene, there's only a 50% chance your baby will get that gene from you. And if your DH is a carrier (which sounds like it's pretty unlikely), there's also only a 50% chance your baby will get that from him. So overall, the chance of baby getting the disease even if both of you carry the gene is still only 25%, though there's a higher chance that the baby will be a carrier of the gene just like you are.

:bighug: How scary! It sounds like the odds are in your favor though.