We have finally received the results of M's CF testing. He is clear!
Read some background here. The short version is that I am a carrier for CF. M's family has a bad history (read: lots of early childhood death) and we decided to check for every single mutation, even the very rare ones. He does not have a single one. It cost us about $700 to make sure, but now we can breathe easy about this. I've been worried, just not talking about it.
All I need to do now is take the baby to the CF doctor a few weeks after birth so they can see if s/he is a carrier and compare that to the results from the early tests we did. Why is this important? It is WAY harder to tell if a baby has the same mutation as the mom. They try to isolate the baby's DNA from mine in the blood, but if we have the same CF markers, that's a little harder. So we still can help a little. And I don't have to worry (about this).
Oh, the *finally* part of the waiting is not because of the doctors or the lab. I've been bugging M to get the blood draw since December. He didn't want to do it. Not because of the blood draw part, but because he would have to go to his doctor's office and most likely get a physical. You know what doctors do to men at physicals? It involves fingers and butts. Once I found out about the group-B strep test, I told him that if I had to go through birth AND get something in my butt, he was going to do this one little thing. You can't argue with that. So he made the appointment and had the finger test. Now he is eagerly awaiting my butt appointment (and you all thought he was just really into butt stuff).
Showing posts with label Cystic Fibrosis. Show all posts
Showing posts with label Cystic Fibrosis. Show all posts
Thursday, March 25, 2010
Wednesday, December 9, 2009
18 Weeks
Wait, really? 18 weeks? I never thought I would be here. I never thought I would actually have an anatomy scan scheduled. I feel like I’m on borrowed time. I feel like I’m really pregnant.
The good: I had lots of flutters last night. I couldn’t sleep because I was so happy. On Monday night, I had a kick (maybe). I started telling the kick how much I loved it and then realized that I might be pledging a lifetime of love to some gas. I’m showing a little. Like you can see my belly pushing out my sweater a little today. I saw my coworker glance at it and I wanted to dance.
The bad: I pee a lot. I wake up every hour or two during the night. I’m cranky at the end of the work day. I don’t care about any of these problems.
The ugly: I have a rash between my boobs because they are smooshed together all the time now. It might be time for some bigger bras. And lots of Gold Bond powder.
The scary stuff: I got my results back from the quad screen. Everything came back normal, so I’m going to stop worrying about spina bifida. I will now focus completely on CF and unexplained death. That’s cheerful! M is in the process of getting the rest of his gene checked for the CF deletion genes. It’s pretty hard to call your primary doctor out of the blue and request some off the wall blood test that needs to be sent to California. We’re having some trouble getting them to work with us. He’s calling again today and should get everything straightened out. I’m just happy that M agreed to do this. I know he doesn’t want to, but he understands my fears.
Normal life: My Mother in Law is taking me birthday shopping on Sunday for maternity clothes. Then we’re going to Babies R Us to poke around and giggle at all the baby stuff. This will be a little rough for me – I still feel like an impostor when I go in those places. Like the BRU police and going to spot me and chase me out of the store because I couldn’t possibly think I’ll be having a baby in May. I’ll get sent to the crazy house.
Today is my Grandma’s birthday. She would be 94. While I’m glad she’s not suffering anymore, I’m really missing her now. I’d love to have her around for this excitement. But I’ve decided that she’s got my two little ones up there with her already. She probably has her hands full!
The good: I had lots of flutters last night. I couldn’t sleep because I was so happy. On Monday night, I had a kick (maybe). I started telling the kick how much I loved it and then realized that I might be pledging a lifetime of love to some gas. I’m showing a little. Like you can see my belly pushing out my sweater a little today. I saw my coworker glance at it and I wanted to dance.
The bad: I pee a lot. I wake up every hour or two during the night. I’m cranky at the end of the work day. I don’t care about any of these problems.
The ugly: I have a rash between my boobs because they are smooshed together all the time now. It might be time for some bigger bras. And lots of Gold Bond powder.
The scary stuff: I got my results back from the quad screen. Everything came back normal, so I’m going to stop worrying about spina bifida. I will now focus completely on CF and unexplained death. That’s cheerful! M is in the process of getting the rest of his gene checked for the CF deletion genes. It’s pretty hard to call your primary doctor out of the blue and request some off the wall blood test that needs to be sent to California. We’re having some trouble getting them to work with us. He’s calling again today and should get everything straightened out. I’m just happy that M agreed to do this. I know he doesn’t want to, but he understands my fears.
Normal life: My Mother in Law is taking me birthday shopping on Sunday for maternity clothes. Then we’re going to Babies R Us to poke around and giggle at all the baby stuff. This will be a little rough for me – I still feel like an impostor when I go in those places. Like the BRU police and going to spot me and chase me out of the store because I couldn’t possibly think I’ll be having a baby in May. I’ll get sent to the crazy house.
Today is my Grandma’s birthday. She would be 94. While I’m glad she’s not suffering anymore, I’m really missing her now. I’d love to have her around for this excitement. But I’ve decided that she’s got my two little ones up there with her already. She probably has her hands full!
Wednesday, December 2, 2009
CF Frustrations
Disclaimer: I’m an engineer, not a doctor. Don’t take any of this as fact if you are looking for CF information. I’m just getting this out from conversations I’ve had.
So, I think we’re back to the Cystic Fibrosis testing again. A quick review: I am a carrier for CF, I found out at about 8 weeks pregnant. I have no family history. My mutation is serious. M has a family history for CF, his mother’s cousin, K, died on Friday at age 43 due to CF. We had M tested for the 1570-ish most common mutations of CF and he came back clear. We waited to get this news before telling M’s mom (she’s a classic worrier). When we told her the whole story, we learned that her cousin K had a sister who died at the age of 3 from CF and her (and M’s mom’s) grandfather had several siblings pass away before the age of 10 due to pneumonia (most likely undiagnosed CF – this was the early 1900s).
Ok, so I told the doctor about this and didn’t think much more about it. He called me today to schedule my last blood draw and said he had been thinking about this more (you never want to hear that a doctor has been thinking more about your case). Turns out, those last 30-ish mutations that they didn’t test for are not only the least common, but they are also the most severe. The most severe mutations are the ones that you never hear about because the child dies very young. He doesn’t test for these types – deletion mutations – because his lab doesn’t have a good way to do it yet. After he learned about the early deaths in M’s family, he realized that there’s a strong possibility that M’s family could carry a deletion mutation.
My mutation (deltaF508) gives a person about 10% lung function. A deletion mutation gives 0% lung function. Pair these two suckers together and things look pretty grim.
I’ll talk this over with M tonight or tomorrow night (depending on his job stress level) and we’ll decide if we’re going to do the further testing at another clinic.
Odds: Assuming M’s great grandfather had CF, M has a 1 in 8 chance of being a carrier. Our child has a 1 in 4 chance of having CF if we are both carriers. Total: our baby has a 1 in 32 chance of having bad CF.
I know they can test for CF in an Amnio. I need to find out if that test will check for all mutations. But then again, even if this kid isn’t affected, we still want other kids and we’ll want to know for them, too. I think I want him to get the full test. He’s not going to be happy.
Crappity crap. I’m tired of worrying about this. I’m tired of making M worried about this. He had finally started to relax. He’s in the process of finding a new job and I really don’t want to add to his stress. I’m already freaked out about my baby dying before birth, now I’m going to be worried about a painful death in the first few years.
So, I think we’re back to the Cystic Fibrosis testing again. A quick review: I am a carrier for CF, I found out at about 8 weeks pregnant. I have no family history. My mutation is serious. M has a family history for CF, his mother’s cousin, K, died on Friday at age 43 due to CF. We had M tested for the 1570-ish most common mutations of CF and he came back clear. We waited to get this news before telling M’s mom (she’s a classic worrier). When we told her the whole story, we learned that her cousin K had a sister who died at the age of 3 from CF and her (and M’s mom’s) grandfather had several siblings pass away before the age of 10 due to pneumonia (most likely undiagnosed CF – this was the early 1900s).
Ok, so I told the doctor about this and didn’t think much more about it. He called me today to schedule my last blood draw and said he had been thinking about this more (you never want to hear that a doctor has been thinking more about your case). Turns out, those last 30-ish mutations that they didn’t test for are not only the least common, but they are also the most severe. The most severe mutations are the ones that you never hear about because the child dies very young. He doesn’t test for these types – deletion mutations – because his lab doesn’t have a good way to do it yet. After he learned about the early deaths in M’s family, he realized that there’s a strong possibility that M’s family could carry a deletion mutation.
My mutation (deltaF508) gives a person about 10% lung function. A deletion mutation gives 0% lung function. Pair these two suckers together and things look pretty grim.
I’ll talk this over with M tonight or tomorrow night (depending on his job stress level) and we’ll decide if we’re going to do the further testing at another clinic.
Odds: Assuming M’s great grandfather had CF, M has a 1 in 8 chance of being a carrier. Our child has a 1 in 4 chance of having CF if we are both carriers. Total: our baby has a 1 in 32 chance of having bad CF.
I know they can test for CF in an Amnio. I need to find out if that test will check for all mutations. But then again, even if this kid isn’t affected, we still want other kids and we’ll want to know for them, too. I think I want him to get the full test. He’s not going to be happy.
Crappity crap. I’m tired of worrying about this. I’m tired of making M worried about this. He had finally started to relax. He’s in the process of finding a new job and I really don’t want to add to his stress. I’m already freaked out about my baby dying before birth, now I’m going to be worried about a painful death in the first few years.
Monday, November 30, 2009
Sounding good!
I always feel like I overreact and then I have a good appointment. If that's what it takes...
I can use my post from earlier today to help calm myself down next time. Fair warning - I'll probably do it again anyway!
This appointment was quick. We heard the heartbeat much quicker than last time. It still took a minute or two, but this doctor talked to me the whole time and kept me distracted. I liked that! I was too excited about hearing the heartbeat to remember what the number was... somewhere in the 150s. I'll ask M when he gets home. He's good with details.
I have my anatomy scan scheduled for 8 am on Dec 15th. I was going to ask to have it on my birthday (the 18th! 30! Holy crap!) but the scary bug whispered in my ear and told me not to ask for too much. So now I'm over the moon excited! We're not going to find out the gender but I'll do any kind of old-wives tale you can throw at me. I'll list them all sometime later.
I had some blood drawn for the quad screen so I can either totally calm down about the spina bifida or I can totally freak out. I'll wait to get results before I decide. The MTHFR does something to reduce how much folic acid I can absorb and I didn't take any until I was almost 5 weeks pregnant. I did drink some OJ every morning, but that's not enough to calm me down. Ah, there's always something...
M's cousin who had Cystic Fibrosis passed away on Friday. We weren't close to her and I'd only met her one time. She had just completed the process to get on the list for a lung transplant and the family was starting to get some hope. She had a bad day on Wednesday and went into the hospital for a minor surgery. After the surgery, she woke up and they told her she'd have to be on a ventilator to survive. She declined and died shortly after that. She had a hard life and we're happy she was able to make this decision, but it had to be a hard one. It really made me thankful to know our little one won't have to suffer like she did.
I can use my post from earlier today to help calm myself down next time. Fair warning - I'll probably do it again anyway!
This appointment was quick. We heard the heartbeat much quicker than last time. It still took a minute or two, but this doctor talked to me the whole time and kept me distracted. I liked that! I was too excited about hearing the heartbeat to remember what the number was... somewhere in the 150s. I'll ask M when he gets home. He's good with details.
I have my anatomy scan scheduled for 8 am on Dec 15th. I was going to ask to have it on my birthday (the 18th! 30! Holy crap!) but the scary bug whispered in my ear and told me not to ask for too much. So now I'm over the moon excited! We're not going to find out the gender but I'll do any kind of old-wives tale you can throw at me. I'll list them all sometime later.
I had some blood drawn for the quad screen so I can either totally calm down about the spina bifida or I can totally freak out. I'll wait to get results before I decide. The MTHFR does something to reduce how much folic acid I can absorb and I didn't take any until I was almost 5 weeks pregnant. I did drink some OJ every morning, but that's not enough to calm me down. Ah, there's always something...
M's cousin who had Cystic Fibrosis passed away on Friday. We weren't close to her and I'd only met her one time. She had just completed the process to get on the list for a lung transplant and the family was starting to get some hope. She had a bad day on Wednesday and went into the hospital for a minor surgery. After the surgery, she woke up and they told her she'd have to be on a ventilator to survive. She declined and died shortly after that. She had a hard life and we're happy she was able to make this decision, but it had to be a hard one. It really made me thankful to know our little one won't have to suffer like she did.
Tuesday, November 24, 2009
Flutter talk
Remember how I was talking about those flutters last week? And how I KNOW they aren’t the baby moving, but they give me some hope that there is someone in there? I’m not the only one that loves them!
I told M about them a few times. He has nodded and kind of acknowledged them like any of my other symptoms. But on Sunday night, we were reading on the couch (the cable went out) and I told him I could feel them. He looked at me and asked if he could feel them, too. He had the sweetest look on his face, he wanted to feel them more than anything! I wish I could give that to him. Just a few more weeks, right?
I gave more blood to the CF doctor yesterday. It took three sticks for him to get a vein. They didn't hurt, though, and I don't have those awful bruises that you usually get when they miss. M said it was a good thing he wasn't there. He never would have made it through the first one. After he got enough blood, the doctor talked economics with me. He was curious about what I'd pay for some of these tests. It's hard to look back and say what I would have paid before I knew anything about the different strains of CF and all the mutations. I think he was disappointed in my answer. Then he told me they are going to shift their major focus to paternity tests (while still researching the CF tests) because those have a high demand. How scary is that?
I just scheduled a tour of a day care facility. It is right after my appointment on Monday. I had to cancel two tours in May because of my miscarriage. Now I’m stressed out.
I told M about them a few times. He has nodded and kind of acknowledged them like any of my other symptoms. But on Sunday night, we were reading on the couch (the cable went out) and I told him I could feel them. He looked at me and asked if he could feel them, too. He had the sweetest look on his face, he wanted to feel them more than anything! I wish I could give that to him. Just a few more weeks, right?
I gave more blood to the CF doctor yesterday. It took three sticks for him to get a vein. They didn't hurt, though, and I don't have those awful bruises that you usually get when they miss. M said it was a good thing he wasn't there. He never would have made it through the first one. After he got enough blood, the doctor talked economics with me. He was curious about what I'd pay for some of these tests. It's hard to look back and say what I would have paid before I knew anything about the different strains of CF and all the mutations. I think he was disappointed in my answer. Then he told me they are going to shift their major focus to paternity tests (while still researching the CF tests) because those have a high demand. How scary is that?
I just scheduled a tour of a day care facility. It is right after my appointment on Monday. I had to cancel two tours in May because of my miscarriage. Now I’m stressed out.
Wednesday, November 18, 2009
15 Weeks
I’m in uncharted territory.
Good things: I’m still kind of tired. I’m waiting for the second trimester energy to kick in, but I haven’t seen it yet. That’s fine with me. I don’t really mind lounging on the couch and not doing laundry. My house is getting messy, though. The boobs are barely hurting at all, but they are changing. I’ve got these blue veins that I can see and it grosses me out. I can only see them in the mirror. I spend a lot of time staring at various body parts in the mirror. I’m getting a little bigger. My abs feel like I’ve been doing sit-ups (as if I would know what that feels like).
Great things: I’ve read everywhere that these little flutters are not baby movements. Fine. I believe you. But they are something. I didn’t have this before pregnancy and I have a lot of gas problems. This is something else. Everyone on the birth boards is talking about them now. So this isn’t a kid kicking me. I’ll call it “Uterus flutters” and I’ll put it in the symptom column. However. There was something. Something completely and totally different than these little flutters. I was running all over the office and bending up and down and carrying plans all over the place and in a tizzy because of some work thing. When it all calmed down, I sat in my chair and took a deep breath. That was when something (I won’t say who or what) tapped me from the inside about 4 quick times. It was light like a fingertip and right down there where a baby lives. It was just that one time. I’m still not saying I felt baby movement… but I’m also not saying that I haven’t.
Bad things: I’ve lost my confidence from the appointment on Thursday. I’m not gaining weight. I still am the only person in my household that thinks I’m showing.
In normal life: I dropped off some blood for the CF doctor yesterday. They made a discovery about blood draws while I was sitting there (something about blood flow – I wasn’t watching). I felt cool to be helping them out.
I’ve heard so much about how once you’re past 14 weeks, your chance of miscarriage goes down again. Yeah? I thought it went down at 6 weeks… or 10 weeks… or at the 2nd trimester… This feeling will never go away. I know I’ll feel better once (if?) I can feel someone kicking my lungs. Come on time! Speed up!!!
Good things: I’m still kind of tired. I’m waiting for the second trimester energy to kick in, but I haven’t seen it yet. That’s fine with me. I don’t really mind lounging on the couch and not doing laundry. My house is getting messy, though. The boobs are barely hurting at all, but they are changing. I’ve got these blue veins that I can see and it grosses me out. I can only see them in the mirror. I spend a lot of time staring at various body parts in the mirror. I’m getting a little bigger. My abs feel like I’ve been doing sit-ups (as if I would know what that feels like).
Great things: I’ve read everywhere that these little flutters are not baby movements. Fine. I believe you. But they are something. I didn’t have this before pregnancy and I have a lot of gas problems. This is something else. Everyone on the birth boards is talking about them now. So this isn’t a kid kicking me. I’ll call it “Uterus flutters” and I’ll put it in the symptom column. However. There was something. Something completely and totally different than these little flutters. I was running all over the office and bending up and down and carrying plans all over the place and in a tizzy because of some work thing. When it all calmed down, I sat in my chair and took a deep breath. That was when something (I won’t say who or what) tapped me from the inside about 4 quick times. It was light like a fingertip and right down there where a baby lives. It was just that one time. I’m still not saying I felt baby movement… but I’m also not saying that I haven’t.
Bad things: I’ve lost my confidence from the appointment on Thursday. I’m not gaining weight. I still am the only person in my household that thinks I’m showing.
In normal life: I dropped off some blood for the CF doctor yesterday. They made a discovery about blood draws while I was sitting there (something about blood flow – I wasn’t watching). I felt cool to be helping them out.
I’ve heard so much about how once you’re past 14 weeks, your chance of miscarriage goes down again. Yeah? I thought it went down at 6 weeks… or 10 weeks… or at the 2nd trimester… This feeling will never go away. I know I’ll feel better once (if?) I can feel someone kicking my lungs. Come on time! Speed up!!!
Monday, November 9, 2009
13 Weeks
Well, here we are. The milestone week. If I can make it past this week I will be in the second trimester with a live baby. I made it to the second trimester before… but with a dead baby. My appointment is on Thursday – exactly 13 weeks and 3 days.
Some good things: I’m still feeling nauseous. This morning I threw up in my mouth on my way to work. It was gross, but not huge, you know? Just a little tiny bit. And it made me happy. I’m so weird. I had some more “growing pains,” but they might have just been gas. I’m still falling asleep around 9 pm. My boobs are still tender when I smoosh them.
Some bad things: All of my symptoms are decreasing. I know this is supposed to happen. It’s fine and normal… but it happened at the same point last time and look where that got me.
I have a little voice come in and say, “Don’t worry! What are the chances you’ll find out about your miscarriage in the same week as last time?” and then a second voice chimes in, “Pretty damn good!” and a third, weaker one says, “Hey! Everything will be fine and May will bring a baby!” and the other two voices shout, “Shut up, dummy!” This happens 2-3 times an hour.
I’m sorry to be such a downer at this time when I should start to get excited, but this is going to get rough. I am simultaneously dreading and longing for Thursday. I wish it would just get here and we could get past Friday and I could start to get excited. I’m afraid it will get here and I will be sadder than I ever was in May.
We went back to the CF doctor on Friday afternoon. They have most of M’s DNA sequenced (and all is clear so far), but a few pieces just aren’t working. They took 4 tubes of blood from him and he did great. The doctor took the blood himself, so now M is done. We’ll know his full results on Wednesday afternoon. If all goes well with me, I’ll give 1-2 tubes every week for 3-4 weeks starting next week. Again, I’m happy to be part of this study. He really wanted some blood for this week, but decided to wait until we’re past the 14 week mark.
I’ll have more updates this week that will sound about the same. Hopefully, you’ll get a positive and joyful post on Thursday. Keep us in your thoughts and prayers.
Some good things: I’m still feeling nauseous. This morning I threw up in my mouth on my way to work. It was gross, but not huge, you know? Just a little tiny bit. And it made me happy. I’m so weird. I had some more “growing pains,” but they might have just been gas. I’m still falling asleep around 9 pm. My boobs are still tender when I smoosh them.
Some bad things: All of my symptoms are decreasing. I know this is supposed to happen. It’s fine and normal… but it happened at the same point last time and look where that got me.
I have a little voice come in and say, “Don’t worry! What are the chances you’ll find out about your miscarriage in the same week as last time?” and then a second voice chimes in, “Pretty damn good!” and a third, weaker one says, “Hey! Everything will be fine and May will bring a baby!” and the other two voices shout, “Shut up, dummy!” This happens 2-3 times an hour.
I’m sorry to be such a downer at this time when I should start to get excited, but this is going to get rough. I am simultaneously dreading and longing for Thursday. I wish it would just get here and we could get past Friday and I could start to get excited. I’m afraid it will get here and I will be sadder than I ever was in May.
We went back to the CF doctor on Friday afternoon. They have most of M’s DNA sequenced (and all is clear so far), but a few pieces just aren’t working. They took 4 tubes of blood from him and he did great. The doctor took the blood himself, so now M is done. We’ll know his full results on Wednesday afternoon. If all goes well with me, I’ll give 1-2 tubes every week for 3-4 weeks starting next week. Again, I’m happy to be part of this study. He really wanted some blood for this week, but decided to wait until we’re past the 14 week mark.
I’ll have more updates this week that will sound about the same. Hopefully, you’ll get a positive and joyful post on Thursday. Keep us in your thoughts and prayers.
Thursday, November 5, 2009
Shots
I got my h1n1 shot. It took 5 minutes. A little girl watched them stick the needle in my arm. I watched her watching me. Her eyes got all round and huge. I think that made it hurt me a little more. I came right back to work and handed over the paperwork to my boss. We do some work for a giant hospital that is now requiring all of their contractors to have the flu shots. This may be the only time in the history of the world that pregnancy has been an asset to an employer. I just hope they realize that I’m not carrying ladders all over the place.
M has to go into the CF doctor again tomorrow. They have 95% of his gene sequenced (and still no sign of being a carrier! Hooray!!). They can’t get the rest from his cheek swab, so we’ll go in right after lunch tomorrow when his blood sugar is nice and high. I’ll have some more blood drawn, too.
Anyway, the good feeling I had from the ultrasound on Monday is gone. It lasted way longer than I thought! I got all the way to Wednesday night before I started getting nervous again. I’m still torn about the Doppler thing. M vetoed the idea as soon as it came out of my mouth. “No. Way. That is not going to help you calm down.” Only 7 days and 2 hours until my next appointment!
The big news today is AKD having her FET today. Send her love!
M has to go into the CF doctor again tomorrow. They have 95% of his gene sequenced (and still no sign of being a carrier! Hooray!!). They can’t get the rest from his cheek swab, so we’ll go in right after lunch tomorrow when his blood sugar is nice and high. I’ll have some more blood drawn, too.
Anyway, the good feeling I had from the ultrasound on Monday is gone. It lasted way longer than I thought! I got all the way to Wednesday night before I started getting nervous again. I’m still torn about the Doppler thing. M vetoed the idea as soon as it came out of my mouth. “No. Way. That is not going to help you calm down.” Only 7 days and 2 hours until my next appointment!
The big news today is AKD having her FET today. Send her love!
Thursday, October 22, 2009
The Doppler Post
First off - M is NOT a carrier of any of the common forms of Cystic Fibrosis. We will know the results for the other 1500 forms of the mutation in about 2 weeks. We are down to a 12% chance that he will be a carrier.
Now I will start talking about a Fetal Doppler.
I don’t know what to do. I’m nervous all the time. I know lots of you have Dopplers and you like them. They keep you calm and happy. AND you get to hear that little heartbeat all the time!
My plan would be to order it near the end of next week so I would get it close to Saturday (Oct 31). I have my NT scan on Monday morning (the 2nd). I would try to find the heartbeat on Sunday evening. If I didn’t find it, I would already be going to the doctor in the morning (after spending the night crying with fear). If I did find it, I would be relaxed for the appointment.
On second thought, maybe I would just wait until after the appointment.
My rule would be to only look in the morning, just in case I don’t hear anything. That way I can call the doctor if I need to.
But.
But what happens to me when I can’t find a heartbeat? I don’t know if I can deal with that. I don’t like the idea of it. I don’t know if I could deal with the waiting. What if I call the doctor and they tell me they can’t see me just because the Doppler doesn’t hear anything? I KNOW what it’s like to search for a heartbeat and not hear anything except my own heart racing with fear. And I was with a doctor who was trying to keep me calm.
I will need to talk this over with M. He will probably try to talk me out of it.
The 10 days between my NT scan (assuming the NT scan goes well) and my next OB appointment will be 100% scarier than the days leading up to the first appointment. I think they will be the scariest days of my life so far. I feel like having a Doppler could help me through it, but I don’t know if I could deal with the nervousness EVERY SINGLE time I pick up the machine to use it.
So, do I stress out majorly for a full 10 days with it all coming to a head on the 12th? Or do I stress out a little less every day for 10 days? Have you had an experience of not finding a heartbeat on a home Doppler? What happened when/if you called the doctor? Do you read a blog where this happened (with good or bad results)? I am 10 weeks, 3 days today. I will be 12 weeks exactly on Monday, November 2nd.
Now I will start talking about a Fetal Doppler.
I don’t know what to do. I’m nervous all the time. I know lots of you have Dopplers and you like them. They keep you calm and happy. AND you get to hear that little heartbeat all the time!
My plan would be to order it near the end of next week so I would get it close to Saturday (Oct 31). I have my NT scan on Monday morning (the 2nd). I would try to find the heartbeat on Sunday evening. If I didn’t find it, I would already be going to the doctor in the morning (after spending the night crying with fear). If I did find it, I would be relaxed for the appointment.
On second thought, maybe I would just wait until after the appointment.
My rule would be to only look in the morning, just in case I don’t hear anything. That way I can call the doctor if I need to.
But.
But what happens to me when I can’t find a heartbeat? I don’t know if I can deal with that. I don’t like the idea of it. I don’t know if I could deal with the waiting. What if I call the doctor and they tell me they can’t see me just because the Doppler doesn’t hear anything? I KNOW what it’s like to search for a heartbeat and not hear anything except my own heart racing with fear. And I was with a doctor who was trying to keep me calm.
I will need to talk this over with M. He will probably try to talk me out of it.
The 10 days between my NT scan (assuming the NT scan goes well) and my next OB appointment will be 100% scarier than the days leading up to the first appointment. I think they will be the scariest days of my life so far. I feel like having a Doppler could help me through it, but I don’t know if I could deal with the nervousness EVERY SINGLE time I pick up the machine to use it.
So, do I stress out majorly for a full 10 days with it all coming to a head on the 12th? Or do I stress out a little less every day for 10 days? Have you had an experience of not finding a heartbeat on a home Doppler? What happened when/if you called the doctor? Do you read a blog where this happened (with good or bad results)? I am 10 weeks, 3 days today. I will be 12 weeks exactly on Monday, November 2nd.
Friday, October 16, 2009
2nd Appointment Details
OB appointment: This was a great, quick visit. I got in there and the little “cover up” blanket wasn’t on the chair, so I started going through all the cabinets. M told me to just go find a nurse and ask, but I know they have all the supplies in the room. I shuddered a little when I opened the drawer full of speculums, but then the huge stash of gowns was right there. Then M reminded me to hide my underwear.
The baby came right into view. I love seeing that heartbeat and the tiny arms moving around. Perfect. We got two pictures! When she measured the baby, we got 10 weeks, 1 day. I gasped a little and the doctor laughed at me – “No, look how the baby is stretched out!” You can see the difference in position in the two pictures.
So we’re looking good so far. She asked me if I’d be ok with waiting 4 weeks until my next appointment. I agreed, but only because I have the NT scan in the middle. That scan is on November 2 and my next OB appointment is November 12.
Wait, November 12? I must be out of my mind. On November 9, I will be 13 weeks. I lost my November baby sometime near the beginning of the 13th week. I’m happy to have the appointment close to that time so I can just KNOW, but then November 13th was my due date. So I again find myself with the possibility of some great heartache piled on top of some more heartache. I hope that’s not the case….
Ok, on to the CF genetic stuff. We spent over an hour with the people in that office. This group (headed by Dr. D) is developing screening tests for babies through the mother’s blood. Within the past 2 years, they have been able to separate out the baby’s DNA from the mother’s blood and screen for genetic disorders. This means no more invasive testing to confirm Down’s Syndrome or Trisomny 18 and 21 or Cystic Fibrosis. I’ve already decided I’m not going to get a CVS or amnio if M is a carrier for CF. There’s nothing we can do ahead of time and the 1 in 200 miscarriage risk is too much for me (even if the risk has been reduced to 1 in 1600 for an amnio and 1 in 400 for the CVS). I’m not ruling out the tests for other problems, just not for CF.
So, back to the doctor. They started off with all the forms. My main concern had been about them requiring one of those tests, but they don’t. M had to swab his cheeks for the quick screening. Then they took blood from both of us (or tried). M went first. She got about 4 drops out of him and he turned gray and soaked in sweat. She had missed his vein. The poor nurse felt so bad. He needed about 20 minutes to recover. They ended up getting 8 more cheek swabs from him. He might have to go back next week if they can’t get his full DNA from that. Then she took 8 vials from me. I didn’t even flinch. I made sure to rub this is in at every opportunity.
CF has about 1600 different mutations. The screening offered to pregnant women looks for 20-30 of these mutations (the most common ones). I have DeltaF508, the most common of the most common. The cheek swab will only look for those same mutations. If he has one of those, ok. They are also testing him for the remaining 1570 mutations. In return for getting this done for free, I am giving blood samples throughout my pregnancy (hopefully).
Dr. D and his wife had 2 miscarriages before their daughter was born and then another before their son. He was kind to us and is going to have us wait until I pass 14 weeks to give any more blood. He doesn’t want any extra stress on this baby (or me).
I really believe in what he’s doing. Imagine all those women who get a high percentage chance back from the NT scan and then have to decide in more tests that could harm the baby. Soon they’ll have the option to know earlier, and more specifically, if anything is wrong. I do see the flip side – perhaps parents will see the results of this test and decide to end the pregnancy, even if it is a treatable condition.
But the good outweighs the bad. So many parents are faced with finding out about chromosomal problems when it is too late and their options are limited, restricted, or downright scary. I know it doesn’t make the decision any easier, but no one should have to fight for their rights when in the middle of so much grief. That’s why this is important to me.
The baby came right into view. I love seeing that heartbeat and the tiny arms moving around. Perfect. We got two pictures! When she measured the baby, we got 10 weeks, 1 day. I gasped a little and the doctor laughed at me – “No, look how the baby is stretched out!” You can see the difference in position in the two pictures.
So we’re looking good so far. She asked me if I’d be ok with waiting 4 weeks until my next appointment. I agreed, but only because I have the NT scan in the middle. That scan is on November 2 and my next OB appointment is November 12.
Wait, November 12? I must be out of my mind. On November 9, I will be 13 weeks. I lost my November baby sometime near the beginning of the 13th week. I’m happy to have the appointment close to that time so I can just KNOW, but then November 13th was my due date. So I again find myself with the possibility of some great heartache piled on top of some more heartache. I hope that’s not the case….
Ok, on to the CF genetic stuff. We spent over an hour with the people in that office. This group (headed by Dr. D) is developing screening tests for babies through the mother’s blood. Within the past 2 years, they have been able to separate out the baby’s DNA from the mother’s blood and screen for genetic disorders. This means no more invasive testing to confirm Down’s Syndrome or Trisomny 18 and 21 or Cystic Fibrosis. I’ve already decided I’m not going to get a CVS or amnio if M is a carrier for CF. There’s nothing we can do ahead of time and the 1 in 200 miscarriage risk is too much for me (even if the risk has been reduced to 1 in 1600 for an amnio and 1 in 400 for the CVS). I’m not ruling out the tests for other problems, just not for CF.
So, back to the doctor. They started off with all the forms. My main concern had been about them requiring one of those tests, but they don’t. M had to swab his cheeks for the quick screening. Then they took blood from both of us (or tried). M went first. She got about 4 drops out of him and he turned gray and soaked in sweat. She had missed his vein. The poor nurse felt so bad. He needed about 20 minutes to recover. They ended up getting 8 more cheek swabs from him. He might have to go back next week if they can’t get his full DNA from that. Then she took 8 vials from me. I didn’t even flinch. I made sure to rub this is in at every opportunity.
CF has about 1600 different mutations. The screening offered to pregnant women looks for 20-30 of these mutations (the most common ones). I have DeltaF508, the most common of the most common. The cheek swab will only look for those same mutations. If he has one of those, ok. They are also testing him for the remaining 1570 mutations. In return for getting this done for free, I am giving blood samples throughout my pregnancy (hopefully).
Dr. D and his wife had 2 miscarriages before their daughter was born and then another before their son. He was kind to us and is going to have us wait until I pass 14 weeks to give any more blood. He doesn’t want any extra stress on this baby (or me).
I really believe in what he’s doing. Imagine all those women who get a high percentage chance back from the NT scan and then have to decide in more tests that could harm the baby. Soon they’ll have the option to know earlier, and more specifically, if anything is wrong. I do see the flip side – perhaps parents will see the results of this test and decide to end the pregnancy, even if it is a treatable condition.
But the good outweighs the bad. So many parents are faced with finding out about chromosomal problems when it is too late and their options are limited, restricted, or downright scary. I know it doesn’t make the decision any easier, but no one should have to fight for their rights when in the middle of so much grief. That’s why this is important to me.
Wednesday, October 7, 2009
Carrier for CF
Update on the cold – I’m rethinking the SinuCleanse. My nose is almost completely cleared up… that was fast. I decided it must be because I was pouring saltwater in my brain.
All right, let’s talk about Cystic Fibrosis!
At my first appointment, the doctor threw out that I should get the screening for CF. I thought that was fine – I was already having a ton of blood drawn. She called me yesterday with the results. I am tested positive as a carrier.
This alone isn’t a huge deal. 1 in 25 white women are carriers. I’m surprised, though – no one in my family has the disease. I guess we’ve all been lucky! Now, M does have a family history – his grandmother’s sister’s daughter (we’ll call her a great-cousin) has CF and she is always in and out of the hospital. She’s been on the list for a lung transplant forever (I think she is not on the list anymore because of her age). So, it’s remote, but we have a reason to be afraid he’ll be a carrier also. If you remember high school biology – His grandmother is very likely to be a carrier, so M’s mom is 50% likely to be a carrier. If she is a carrier, then M is 50% likely to be a carrier. If we are both carriers, we have a 1 in 4 chance of having a baby with CF. That’s a lot of ifs.
I talked to a doctor at a nearby lab yesterday afternoon. His company is working to develop CF tests that will not require an Amniocentesis or a CVS. He asked me to be part of his study and I agreed. It is just a series of blood draws during my pregnancy and a test on the baby when s/he is born. I’m going to be part of that – I’m good at getting my blood drawn and it should help out moms in the future. He seemed almost giddy when he was talking to me. I guess he doesn’t get a lot of calls so early in the pregnancy and from someone so close. His office is about 2 miles from my house, so going there for the study isn’t a problem for me.
M will have his cheek swabbed at my next doctor’s appointment (the 14th). Immediately after the appointment, we are meeting with the CF doctor and I will have my first blood draw. We’ll know about M’s status about a week later.
I’m a little freaked out about the meeting, but mainly because I don’t like planning pregnancy dependant events after an appointment. That would be a very uncomfortable phone call at a very bad time.
I talked to M for a while last night. He is upset. He feels guilty for possibly giving this life-shortening disease to someone so small. I understand his feelings, but I don’t have them at all for this (yet). I think it’s because I’ve already sorted through feeling guilty about what my body can do to a baby. I’ve already hated myself for something much worse than CF and I’ve dealt with it. This isn’t something we’ve intentionally done to our kid and IF we have a CF baby, we’ll do everything humanly possible to give them a great chance to live a long life.
So we’ll add this to my list of hopes: Dear little baby in there, I hope you’re still happy and growing and feeling all this love I’ve got for you. I hope to see you on a sunny day in May and you come out with great, strong lungs then go on to live a happy, healthy life surrounded with love and laughter.
All right, let’s talk about Cystic Fibrosis!
At my first appointment, the doctor threw out that I should get the screening for CF. I thought that was fine – I was already having a ton of blood drawn. She called me yesterday with the results. I am tested positive as a carrier.
This alone isn’t a huge deal. 1 in 25 white women are carriers. I’m surprised, though – no one in my family has the disease. I guess we’ve all been lucky! Now, M does have a family history – his grandmother’s sister’s daughter (we’ll call her a great-cousin) has CF and she is always in and out of the hospital. She’s been on the list for a lung transplant forever (I think she is not on the list anymore because of her age). So, it’s remote, but we have a reason to be afraid he’ll be a carrier also. If you remember high school biology – His grandmother is very likely to be a carrier, so M’s mom is 50% likely to be a carrier. If she is a carrier, then M is 50% likely to be a carrier. If we are both carriers, we have a 1 in 4 chance of having a baby with CF. That’s a lot of ifs.
I talked to a doctor at a nearby lab yesterday afternoon. His company is working to develop CF tests that will not require an Amniocentesis or a CVS. He asked me to be part of his study and I agreed. It is just a series of blood draws during my pregnancy and a test on the baby when s/he is born. I’m going to be part of that – I’m good at getting my blood drawn and it should help out moms in the future. He seemed almost giddy when he was talking to me. I guess he doesn’t get a lot of calls so early in the pregnancy and from someone so close. His office is about 2 miles from my house, so going there for the study isn’t a problem for me.
M will have his cheek swabbed at my next doctor’s appointment (the 14th). Immediately after the appointment, we are meeting with the CF doctor and I will have my first blood draw. We’ll know about M’s status about a week later.
I’m a little freaked out about the meeting, but mainly because I don’t like planning pregnancy dependant events after an appointment. That would be a very uncomfortable phone call at a very bad time.
I talked to M for a while last night. He is upset. He feels guilty for possibly giving this life-shortening disease to someone so small. I understand his feelings, but I don’t have them at all for this (yet). I think it’s because I’ve already sorted through feeling guilty about what my body can do to a baby. I’ve already hated myself for something much worse than CF and I’ve dealt with it. This isn’t something we’ve intentionally done to our kid and IF we have a CF baby, we’ll do everything humanly possible to give them a great chance to live a long life.
So we’ll add this to my list of hopes: Dear little baby in there, I hope you’re still happy and growing and feeling all this love I’ve got for you. I hope to see you on a sunny day in May and you come out with great, strong lungs then go on to live a happy, healthy life surrounded with love and laughter.
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