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#10363 - 01/14/05 09:42 PM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
That's okay - my boys will be doomed to male pattern baldness too. . . my husband is bald and my father is too!

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#10364 - 01/14/05 10:04 PM Re: Just got x-linked diagnosis
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
Also, thats what just about everyone hears from their doctors. I really wish that if they did not know something, they would just say "You know what, I really do not know, but I will find out for you, and if I still do not know, I will find someone who does." Maybe they should add that quote to the MCAT ...better yet, it should be a class in itself. How to deal with the fact that you just will not always know everything, and sometimes, just sometimes your patients could be right. Anyway, if you look at it from their point of view (the doctors) it is still pretty rare. Even if it is 1 in 6000, which some stats have made xli more common with the testing 1 in 2000 it is still rare. Just look at other birth stats.
It is very frustrating, educate yourself, and do what is best for you and your family. If you have to, switch doctors but more than likely, the next one you choose will have no clue either. It is funny that I had an email from a mom with four children, two girls and two boys. The boys both have XLI, and the girls obviously did not. She had much more difficulty with her boys than her girls. She had thought her body was failing her, as she really wanted a midwife delivery with limited medical intervention. Both deliveries with her girls, regardless of birth order were much easier as far as cervical dilation and second stage labor.
related or not,we do not know because....
no one did a study right?
The long and short, I guess take as many precationary measures as possible. Educate yourself and push for what you feel is in your families best interest.
Did your first son ever have a test done to see if he has xli????? I was thinking about that last night, I never knew my first born had it until he was tested at three years after my second son was born.

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#10365 - 01/14/05 10:10 PM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
No - we haven't had our first son tested although I did have the triple screen with that pregnancy as well (he was born in August 2003) and it came back normal and he doesn't seem to have any dry skin at all. I'm getting blood drawn on Tuesday so they can confirm that I'm a carrier and if I am (which is pretty likely), I'll look into getting him tested.

Thanks for the reply!

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#10366 - 01/18/05 02:46 AM Re: Just got x-linked diagnosis
spareme65 Offline
Member

Registered: 11/24/03
Posts: 10
Loc: New Milford, CT USA
Hi Lisat,

Congratulations! I just saw your post and wanted to add some info. Just like threexli said, many women experience failure to progress and it does not matter wether it is your first , second or third delivery.

When my children were born, they did not do amnio's unless you were over 35. They were still relatively new, and as the gene was only recently discovered at the time it wouldn't have made a difference in my situation.
My first child was stillborn at 42 weeks. I never had labor what so ever.
My 2nd son was induced (because of the stillbirth) and I did not progress past 8 cm with pitocin for over 32 hrs. My 3rd child was a girl, and my labor started naturally at 38 weeks and lasted less than 6 hrs. My last child was induced at 39 weeks and labor went on and on for over 40 hrs before they did a section. (By the way he also has the most scaling and is the more severe xli of my sons. My oldest only has symptoms on his scalp and neck.) We recently had it confirmed that it was indeed x-linked and not vulgaris as originally diagnosed.
Any way, my point is not to scare you, you already have heard from the most knowledgable on the boards. I just wanted to relate my experience, so that you can relate all this to your OB/GYN. You may have a normal labor, but with this you can't really tell. But stress to your Dr. that you should not go past 40 wks.
The ichtyosis it's self is a managable condition, and you will have a beautiful child. You may have already seen this article from e-medicine, but it's definatly worth having the OB put it in your records. http://www.emedicine.com/derm/topic191.htm
I have even included this, with the fetal mortality paragraph highlighted, in my daughters medical records even though she is only 13. And my sons will all be made aware of this, so there daughters will know.

You are very lucky to have found not only this forum, with all the wonderfull people who have so much support and information to give, at such a time in your life.

Knowledge is power! When I first suggested x-linked to our family derm. he just said "Humn, maybe" and that ws that. If I hadn't found this site, we still wouldn't have had answers.

Good Luck and again Congrats!
Chris

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#10367 - 01/18/05 04:51 AM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
Hi Chris -

Thanks for your reply and the information. I'm so sorry to hear about your first baby - my sister also lost her first child at 41 weeks - a stillbirth with no apparent cause so, although I don't fully understand what it's like because I haven't gone through it myself, I know from watching her cope with it how hard it is to get over something like that.

I plan on printing out the emedicine article and taking it in to my ob-gyn at my next visit!

Thanks for the encouragement - this board is so great and I'm so glad I found it.

Lisa

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#10368 - 01/20/05 09:01 PM Re: Just got x-linked diagnosis
charmed7 Offline
Member

Registered: 03/07/04
Posts: 165
Loc: Hartford, CT
It so fustrating when your doctor just brushes off your concerns almost like they are not legitamite. When my sister was born with her first son, I told her to print out that e-medicine article because on the bottom of it, it states some legal information and liabilities. It might scare them into listening to you. It's hard because there are no studies and not a lot of knowledge about everything that the doctors will hardly listen. Like, if they don't know then how could we possibly know?!?

I'm not going to go into the whole drama of my son's birth, but besides never going into full labor, AND pratically stopping after induction, he went undiagnosed for at least 24 hours. They said his skin was scaly because he was post. As a newborn his skin became weak and that whole biology lesson that your skin is an organ starts flashing in my head. He was losing fluids through his skin, became dehydrated and got a skin infection. Once they put the aquaphor on his skin it acted as a barrier and he immediatly started getting better.

Good luck.
_________________________
I have a gifted 14 year old boy with X-Link Ichthyosis, Type I Diabetes and Bipolor Disorder.
I have a 7 year old girl who is uncanningly healthy
I have a spunky 1 year old who doesn't quite understand the word "No" yet.

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#10369 - 01/20/05 09:24 PM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
My husband and I had a great meeting yesterday with a genetics MD. She suggested that we schedule a consult with a perinatal MD who can then write out explicit instructions for my OB-GYN regarding my labor and delivery. That way, she might pay attention!!

Thanks for your information. All of this info from everyone is going to make things a lot easier when the baby comes! We have a consult with a pediatric dermatologist at the beginning of March as well which should be very helpful.

Lisa

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#10370 - 01/21/05 12:36 PM Re: Just got x-linked diagnosis
spareme65 Offline
Member

Registered: 11/24/03
Posts: 10
Loc: New Milford, CT USA
Lisat,

I'am sorry to hear about your sister, boy does that dring back memories. Because of your diagnosis, I asume her child was male. Weather or not, If she would like someone to talk to, please give her my e-mail. Sometimes, only someone who has been there, can understand exactly all the emotions she is feeling.

I'm glad your appointment went well, and good luck with the Derm. Dr.

Chris

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#10371 - 01/21/05 05:59 PM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
Hi Chris -

Thanks so much for your offer. My sister lost her baby almost 15 years ago - she also tries as much as she can to talk to other couples who are going through the same thing as she also thinks no one can understand unless they've gone through it. The baby she lost was a girl so, unlikely that it was XLI - but, I'm being tested now so if I'm a carrier, she will have her son tested. I know it's a long shot, but her husband said that he had really dry skin as a baby - they thought it was eczema - it's possible that he has XLI and she's a carrier - if so, I can imagine that the baby they lost, Emily, might have been homozygous for the deletion. The chances are something like 1/25,000. . .. but it might still be good for them to be tested - they never had a reason for the stillbirth and I think it might help her to know. . . .

Back when she was pregnant with Emily and even with her son who is now 10, they didn't test for estriol levels I don't think. ...

BTW - the genetics MD we saw this week told us that, at least in California, there's a chance they won't flag low estriol anymore. It might not be worth it for them - they started flagging low estriol to pick up cases of Smith Lemmli Opitz but they're finding at least 10 cases of XLI to every 1 case of SLO. They'll still test estriol because low AFP, HCG and Estriol is still a marker for trisomy 18, but if you just have low estriol, it won't flag as a positive test for anything and it would be up to the ob to look into it further. Based on the fact that the ob who called to give me my triple screen results didn't even mention the low estriol. . . . I'm going to guess that a lot of women with XLI babies won't know which would be disastrous if they go over their due dates.

I guess if they stop flagging for estriol, it would be good to somehow make pregnant women aware and ask their doctors to see their test results.

Lisa

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#10372 - 01/21/05 08:37 PM Re: Just got x-linked diagnosis
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
I think at this point I am so furious! I cant even speak. I cant even imagine this getting worse than it is, but I guess it has. How can they stop giving women test results that can affect the life of their babies?????????
What happen to "do no harm???"

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