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#10481 - 05/25/05 05:26 PM Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I am posting to announce that I am pregnant. 8 weeks along, so I won't know for a long while if this child has confetti or not. Our chances are 50/50. So we'll see what happens. I'm due Jan 4, 2006.

I've known for 2 weeks, but I'm still not sure how to feel about it. I'm happy that I am pregnant, but I am worried about this one's health. No one knows much about confetti, so we have no idea how mild or severe this one will be. I have a lot of other worries, too, but none related to the ichthyosis.

My first ultrasound is tomorrow. I've been bleeding since yesterday morning, so I am worried that I may miscarry. I hope not.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10482 - 05/25/05 07:29 PM Re: Well...NFP is out the window
ShaunaJ Offline
Member

Registered: 07/29/03
Posts: 233
Loc: Ogden,Utah
You will have to let us know what happens. Your family will be in our prayers and I hope all works out for you guys.

Shauna

[This message has been edited by ShaunaJ (edited May 26, 2005).]
_________________________
Shauna Johnson
Independant Consultant
Cookie Lee Jewelry
"Choose a job that you LOVE and
you'll never WORK a day in your life!"

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#10483 - 05/26/05 03:42 AM Re: Well...NFP is out the window
AngV Offline
Member

Registered: 11/27/04
Posts: 23
Loc: Sartell, MN
My thoughts and prayers are with you, I hope all goes well tomorrow. Congrats and best wishes to you and your family.

Angela
_________________________
Angela

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#10484 - 05/27/05 12:07 AM Re: Well...NFP is out the window
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
Congrats on your pregnancy! I hope everything turns out ok for you & your family!
_________________________
If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#10485 - 05/27/05 06:11 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
U/S was yesterday. It has a heartbeat, so I seem to be okay. It was hard to see much of anything on it because it is only 2mm long - that's 1/20 of an inch! My due date changed to 1/21/06.

That's all we know so far. Thanks for your support.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10486 - 05/27/05 11:08 PM Re: Well...NFP is out the window
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
My son's birthday is 1/18! I'm sure you'll have a great pregnancy and a very healthy baby!
_________________________
If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#10487 - 06/03/05 05:04 PM Re: Well...NFP is out the window
dpatock Offline
Member

Registered: 01/31/05
Posts: 44
Loc: Sacramento, CA
Congrats Hearsay! Please keep us updated! -Darcie

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#10488 - 06/09/05 12:14 AM Re: Well...NFP is out the window
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
How's the bun in the oven? Is the dough rising yet? [img]http://www.ichthyosis.com/ubb/smile.gif[/img]
_________________________
If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#10489 - 06/27/05 03:39 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Dough is definitely rising. I'm 10 weeks as of Saturday, and I am starting to pooch out in front. I saw the OB last Friday, and I am now officially a high risk patient. An older siblingpreemie + 50% chance of rare birth defect = high risk, I guess.

Fine by me. It looks like they will be doing more ultrasounds and will likely be doing a 3d in the 3rd trimester to see if they can see the disorder developing or not. I also saw an article about doing a fetal biopsy at 19 weeks and seeing accelerated keratin growth. Apparently it doesn't show up until 24 weeks in unaffected babies. Anyone know anything about that?

This is from emedicine. Since our gene is unknown, we'd fall into the first category:
* Prenatal diagnosis can be made by ultrastructural analysis and by direct gene sequencing.

o Prenatal diagnosis of EHK can be performed by ultrastructural analysis of fetal skin biopsies and amniotic fluid cells. Keratin 1 and keratin 10 are expressed suprabasally as early as week 14 of gestation; normal fetal keratinization does not begin until the 24th week. To date, keratin filament aggregates have been detected for diagnostic purposes in the 19th week of gestation for diagnosis.

o Chorionic villus sampling can diagnose EHK earlier by direct gene sequencing if the familial mutation is known. The earliest documented diagnosis by this method is at the 15th week of gestation, but the chorionic villus sampling theoretically can be tested as early as the eighth week of gestation.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10490 - 07/27/05 09:01 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Well, I'm approaching 15 weeks. I guess I should update. As is usual for my life, I'm juggling quite a bit.

I was in Baltimore over the weekend and got back Monday afternoon. My MIL took the kids on Thursday and brought them back yesterday. Today was occupied by an eye appointment for Nathan. And in the meantime, I've been dealing with some pregnancy issues and also we may be moving to DC. Detail follows, if you're interested:

1. editted out

2. Pregnancy. My OB booted me completely. My care has been moved exclusively to the high risk office. Which means that rather than paying a single $20 copay for all the office visits and the delivery and the hospital, with the only extras being lab tests and ultrasounds, I will now be paying $20 EVERY TIME I GO IN. Plus lab fees and ultrasounds. And delivery is separate. And I can't deliver where I had Nathan. I have to go to OSU, which is 20 minutes of highway driving further away. And they want me to have a c-section, whether the kid has the disorder or not. And now I'm looking at possibly moving between 7 months pregnant up to 3 months after the birth.

3. I'm also in a bit of a pissy mood because of my MIL. The usual comments - telling Nathan how messy the house is, smart *** remarks about the cat and how the kids shouldn't touch the cat, asking me if the cats had used the plastic storage dishes I was giving back to her - like a cat could stick its head into a quart-sized deli dish. What else...oh, all the laundry I sent up with the kids had to be rewashed because it smelled funny and one pair of overalls was covered in cat hair - straight from the dryer, mind you. Then the dinner conversation about the job. She asked how I felt about moving and I told her that I was fine, as I could get a job anywhere with my field. She then spent 20 minutes telling me 1) that I can't get a job because I never completed my master's degree, 2) how do I expect to work with 3 toddlers at home and a house to manage, and 3) despite my field, (sciences - research and teaching) I shouldn't expect to get a job that makes 50,000 in the DC area, that I'd be lucky to get a 30,000 job, and 4) Brian's job is more important than anything I could do because he brings in the majority of the family income....oh, and also, I shouldn't expect him to do his own dishes on a weekend when I'm out of town and I should just cheerfully put them in the dishwasher myself because...he works and he's tired. AAAAAAAAAAAAAAAAAAAAAHHHHHHHHHHHHHHHHH

I haven't killed her yet, though. I'm thinking DC is looking brighter every day.

So...my big ultrasound is also my next appointment - Tuesday, August 9th. 13 days away! I'll be 16 weeks along, so hopefully they'll be able to tell. If not, I'm likely having a fetal biopsy between 19 and 22 weeks.

On the good news front, Nathan is not showing signs of corneal erosion, and is also not myopic. Both make me very happy, although the doctor irritated me a bit because he told me that Nathan doesn't have ichthyosis because all the ichthyosis patients he has seen have cataracts and problems from ectropian. Like I wouldn't know if my son had this damned disorder or not.

I'm sorry for the whine. I just need to get it out today.

[This message has been edited by Hearsay (edited July 29, 2005).]
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10491 - 07/27/05 11:19 PM Re: Well...NFP is out the window
ShaunaJ Offline
Member

Registered: 07/29/03
Posts: 233
Loc: Ogden,Utah
Wow where to Start lol. First off I hope he gets the job, it sounds like it would be a good move for two reasons.1.If he is unhappy where he is with work and can find it else where then I would. Mike is looking at the same thing so I know what you are going through with this one. 2.The move sounds like a good idea to get away from the MIL. I am sure she thinks she is helping and means well, but she needs to mind her own business. My mother in law can be this way sometimes too, and Mike encourages it by dragging her into every detail and problem in our life. A move would be nice for us too. I don't blame you for wanting to vent either. I would have to if I was going through all this at once. I hope things work out well for you with everything. Keep us up to date!

Shauna
_________________________
Shauna Johnson
Independant Consultant
Cookie Lee Jewelry
"Choose a job that you LOVE and
you'll never WORK a day in your life!"

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#10492 - 08/01/05 06:20 PM Re: Well...NFP is out the window
Laura Phillips Offline


Member

Registered: 07/31/08
Posts: 12
Loc: Detroit, MI
Congratulations from me and Chris!

The notion that you might be moving to the DC area caught my eye--it would be great to see you! Having just moved to DC a couple of years ago from Ohio, we probably would have much in common.

Let me know if we can help with any info on DC.

Laura
ljpindc@yahoo.com

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#10493 - 08/02/05 02:04 AM Re: Well...NFP is out the window
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
Next week is your u/s hearsay! You have to post on the results!

Also, maybe you should try to find a diff OB if they are going to make you have a c-section regardless of if baby has ich or not.

I have to have a c-section too in 2 weeks, but it's b/c baby's breech. Yay. Hopefully "she" turns before then so I dont need the c-section!

Anyway, make sure you let us know how your u/s went! I'm prayin for you guys!
_________________________
If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#10494 - 08/07/05 03:11 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Well, the ultrasound is coming up this Tuesday. 8am, which means we get up, dressed, kids to the sitter and out the door by 7:30! Ooh, fun!

It is also an appointment with the doctor, who hopefully has looked a little deeper into our situation this time. If not, I have a recommendation for another practice that I may be checking into.

In other news, I took Nathan to the eye doctor last week, and he does NOT have corneal erosion. He actually said that he sees other are ichthyosis patients. Dee - does Evan see Dr. Bremer? The only other kids I know in the area are Mark and Maria, Samia's LI kids. I was a little annoyed with him because he tried to tell me that my son doesn't have ichthyosis because he doesn't have the eye damage he has seen in other ichthyosis patients - cataracts and ectropion and stuff. Like I wouldn't know if he had it or not by now.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10495 - 08/08/05 02:15 AM Re: Well...NFP is out the window
Deidra Offline
Member

Registered: 03/08/02
Posts: 162
Loc: Lancaster, Ohio USA
HI,
No, we just go to a local eye doctor. Evan has never had any eye issues though. I have been told of a couple of ichthyosis patients here in my area and am working on getting in contact with them. I also know one other person who last I heard was an Ohio State student. I believe all 3 of them have EHK.
Glad there is no corneal issues. Good luck with the ultrasound on Tuesday.
Dee
_________________________
Dee

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#10496 - 08/09/05 04:37 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
We're having a boy!
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10497 - 08/10/05 01:56 AM Re: Well...NFP is out the window
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
Congrats!!! YAY!!! Now the fun part starts with deciding on a name! lol
_________________________
If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#10498 - 12/12/05 11:20 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
First post - we went to Denver on Nov 30th to try to do an ultrasound to see if the baby has the skin disorder. This was Dr. John Hobbins. He was one of the developers of 3D ultrasound and was one of the first to detect EHK through fetal biopsy in 1979.

The doctor was just incredible. In addition to the hour phone call I had with him back in September, he also contacted our dermatologist and regular OB and also did his homework and read through our history that we sent - which is 5 pages long! So coming in, he was well-informed. We brought birth pictures of Nathan so he had a good idea of what we were looking at.

Most of what we did was a 2-D ultrasound, but he spent an hour and a half going over the fine details, looking closely at the hands and feet and scalp. Because of the low amniotic fluid, it was hard to get good 3D or 4D pictures of anything near the head - which would be the hand and the head. Undecided . However, he did zoom in and look closely at the scalp and hair. He said that normal fetuses usually have hair floating the way it does when you put your head underwater, but this one, it was matted down and a bit on the thick side. He said it could be vernix but didn't think there would be that much because of the fetal age. It could also be skin overgrowth from ichthyosis. Or something else. Since no one ever looks at skin thickness in the scalp, he took the measurement, but doesn't know what it means or if it is significant. The cool thing about this doctor is that he said that he will make a point of checking the measurement on his other 32-33 week patients so he can get a comparison and get back to us!

A second thing he looked at was something called hyperechoic material. Amniotic fluid is a suspension with lots of little bits in it, but usually they are really small and the ultrasound can't pick them up or only picks them up in limited quantities. Some babies, though, have a lot of stuff in the amniotic fluid. It could be vernix or meconium (depending on the fetal age), or it could be a sign of a birth defect. In this case, it could be bits of skin, which may be ichthyosis. The little spaces in the amniotic fluid were full of little floaters that reflected white on the ultrasound. You could see it moving around Brownian motion-style, like when you dump gelatin in a bowl of hot water or look under a microscope with pond water or blood cells or something.

He looked at the hand repeatedly, and he said that the skin looked smooth and that it was opening and closing normally, as opposed to permanently clenched. On the 3D picture of the foot, there is a big fissure in the heel, but it was indeterminate if it was an actual fissure (ichthyosis) or if it was an artifact from the angle of the scan. Since the low fluid was the problem, he only tried to get it once.

Finally, he concurred about the low amniotic fluid and noted that (again) the abdomen was small compared to the head, enough to diagnose intrauterine growth restriction. He looked closely at the Doppler measurements of the fetal and maternal arteries. The umbilical arteries were right on. The cerebral artery was right on. One thing you usually see in IUGR is an increase in flow to the brain and a decrease to the body, so that was weird. He did say that the baby might be normal and that it is just his genetics because Brian isn't that big of a person and neither is Nathan. However, he did see a problem in my uterine artery. On the side with the placenta, all looked good, but the other side didn't match up and also had a dicrotic notch (a bump in the pressure). This means that for some reason, blood isn't flowing to the uterus as well as it should be on that side. He said that it could indicate a brewing problem, or it might just be weirdness specific but normal to me.

In a nutshell, because of the amniotic bits, the scalp thickness and the foot crack, we can't rule out the disorder, but at the same time, there wasn't enough there for him to make a concrete diagnosis that it really is there, as all of those things are explainable by the low fluid issues. He is quite concerned about the growth restriction, and told me to continue the NSTs and the kick count monitoring. He said that usually the NST goes wonky about 3 weeks before the baby is in danger and needs to be removed immediately.

If anyone is having a high-risk pregnancy and needs a really good ultrasound doctor, I will happily pass his name on to you. This trip was so worth it.

Jennifer
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#10499 - 12/12/05 11:24 PM Re: Well...NFP is out the window
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Second post: update through this weekend.

I haven't been checking in much lately because I've been travelling and dealing with lots of pregnancy complications. The Tuesday before Thanksgiving (31w) I went for a regular visit and they did an ultrasound to look at amniotic fluid levels. The norm is 5-25cm. I was at 6! At 5, they do the steroid shots and if it goes below 5, they induce. So Thanksgiving morning, I had to go back and get checked again. No change, although the heartrate and whatnot all seemed fine. Baby had dropped from 50th to 25th percentile in size, though, and was about a week behind in growth of his abdomen. The doctor decided to do the steroid shot and let me go to my family in Cleveland for the holiday, but I had to take the second shot with me for my father (a nurse) to give me the next day.

My next checkup was Tuesday (32w) again. Amnio was up to 9, so we got the go-ahead to go to Denver to see the specialist on Wednesday. The baby was down to 9th percentile in size, though, and
about 10 days behind, although the head is still on target. The Denver guy noticed that my one uterine artery isn't feeding the placenta properly, and diagnosed IUGR.

We went back to the doctor on Tuesday (33w) and talked to her about the Denver results. They did another growth u/s, which confirmed that the baby is getting behind. They came up with about 10th percentile. Amniotic fluid is still 9cm, which is still lower than average (15cm), but not life-threatening. She put me on total bedrest.

We went back on Friday (34w) and did another monitoring session and all was still looking good. They didn't check the baby's size again because growth differences less than a week apart are within the
margin of error of the machine, so we get to see growth again on the 20th, assuming I get that far. The doctor had been talking about possibly inducing this weekend, but given how the baby looked on
Friday, we held off.

Saturday morning, I started having false labor contractions and they are continuing today. Not frequent enough to call the doctor, but enough to think that labor is coming very soon. I was supposed go back to the doctor tomorrow (Tuesday) for another monitoring session, but I called them and they had me to come in at 1 today, instead. Thankfully, with the steroids, the baby should be fine if I had to deliver right away, with no lung problems (#1 preemie killer). Hopefully, we'll hang on another week or so.

The doctor today said that I'm 50% effaced but not dilating yet, so I'm likely in early labor. So I could have this kid tomorrow...or in 3 weeks. No way to predict.

BTW, his name will be Elliot.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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