Just got x-linked diagnosis

Posted by: lisat

Just got x-linked diagnosis - 01/06/05 03:59 AM

Hi -

I'm 21 weeks pregnant and just got a call from the genetic counselor that my baby has tested positive for x-linked ichthyosis. I have a 16 month old son who doesn't have XLI so I'm just starting to do research to find out what this is all about. My triple screen test came back abnormal - not just for estriol, but also high for both AFP and HCG so the baby was at risk for Downs and neural tube defects. The ultrasound and amnio showed nothing wrong so I was relieved. When they mentioned XLI as a possibility, I have to admit that I thought "if that's all it is, I'll be relieved". Well. . . .that's what it is and now I feel a bunch of emotions - worried, guilty, disappointed, sad. . . .

I'm a scientist with a degree in genetics but I still don't know much about this disorder. Surprisingly, either did the genetic counselor I spoke to today! I have a call in to my pediatrician who can put me in touch with a doctor at Children's Hospital who handles these types of cases.

What can I expect? I can't find many pictures online - how severe can this be. I'm a worrier so I immediately started worrying about how my son will be made fun of at school etc. . .etc. . . What is it like for kids with XLI?

I'm glad I found this board!!

Posted by: Les Avakian

Re: Just got x-linked diagnosis - 01/06/05 08:32 AM

Hello Lisa
I am glad you posted and many of the people here can give you very good advice. First of all, I would contact our ichthyosis foundation called FIRST(Foundation for Ichthyosis and Related Skin Types) at info@scalyskin.org. or (215)631-1411. Jean Pickford or Maureen Tierney can send you information on X linked and put you in touch with members of our ichthyosis support network.Our foundation website is www.scalyskin.org.With X linked, we lack the steroid sulphatase enzyme.In some cases there is an inhibition of progression of labor so inform your doctor of this possibility.Maybe Jean or Maureen can refer you to a doctor in your area experienced with ichthyosis.If I am not mistaken, Dr. Bari Cunningham(FIRST Med. Adv. Board) is down in the San Diego area.Lisa if you would like to email me, I am Les Avakian,X linked ich, at lesthan@aol.com.Take care and by for now.
Les Avakian
Posted by: threerxli

Re: Just got x-linked diagnosis - 01/07/05 09:00 PM

Call me, my estriol level was a 0 ZERO with my second pregnancy, they doctors had no idea what was wrong with the baby, they said it was a "DOOMED" (their words) pregnancy and even pushed me toward an abortion. They said they never saw zero estriol and that the baby would probably be born dead, or not make it to term to begin with. I pushed for amnio after the second level ultrasound ruled out downs markers and other defects. My son is about to turn 8 in March and he is the best looking , "doomed" child I ever met. He has way too many girls calling the house and for a second grader has an extremely high score in math and science. His skin is dry compared to my other boys, which also have x linked ichthyosis, but no one knows he has it. His face, and body are normal. Only his shins it is noticeable. And his scalp has it, but people with dandruff have worse time than he has. I have met people with normal skin,( and I use this term loosly because what IS normal after all?)that have worse and more severe problems than my boys with x linked have ever gone through. I am sure people will write me after this, but I am so angry right now from every mom I have talked to that have Doctors telling them to abort. Im prochoice, I always have been, I understand that there are exceptions for every rule, but had I listened to the medical community in 1997, with out pushing for an amnio, that would have been the biggest mistake of my life, and my sons.
Posted by: charmed7

Re: Just got x-linked diagnosis - 01/11/05 08:57 PM

I wanted to post one minor peice of information I found out after my son was born XLI. The gene that your son is missing causes problems with labor. I was even induced and still did not dialate completely. They had to do an emergency c-section. I found this information at emedicine.com. It's not a lot of information, but it was a good read. Go there and search for Ichthyosis. You will find the passage. You may even want to print it out for your doctor.

On another note, my son has a very mild condition, he does need extra care but for the most part his disease has not handi-capped him from any normal activities. I have many stories and experiences. The only way your going to have specific questions is when it happens to you. So right now just concentrate on your delivery. And here are a few other notes for that time:

-Have aquaphor (you can buy over the counter at any pharmacy and most grocery stores) available to put on his skin.
-Be prepared for skin infections and I would recommend keeping him out of the nursery and in the room with you so he doesn't catch or pass a skin infection.
-What for any dehydration, or fluids seeping through his skin.

Good luck and if you have any other questions please let me know.
Posted by: lisat

Re: Just got x-linked diagnosis - 01/12/05 12:20 AM

Thanks for that information. I had read that there could be problems with labor. I'm going to my ob-gyn for my 22 week visit tomorrow and will discuss it with her. I'll also look up the emedicine reference.

It helps a lot to talk to other mothers who've been through this!

I just had my followup ultrasound today and the baby looks great! Now we just have to come up with a name. . .

Posted by: threerxli

Re: Just got x-linked diagnosis - 01/13/05 03:06 AM

Charmed is correct. There is a great website at e medicine. I had three c sections the last one doesnt count because it was an emergency c section. The first two were due to failure to progress, could not get past 1-2 with both. This can get complicated considering most doctors and hospitals will not consider a women in labor until they dilate to four. My labor with my first son was 32 hours. My second son was an induction do to low amniotic fluid (37 weeks) and they stripped the membranes two days prior, cervical gel the night before at the hospital and pitocin at 6 AM. = one fat round baby 8 pounds 6 ounces by c section at 4 50 PM. Hey I gave it a try for vbac. I do have to say this, several moms that I have met on this board delivered their x linked boys with no problems at all, vaginally. One mom that had girls had easy deliveries and the affected boys were difficult deliveries. You may or may not have this problem, and again, until SOMEONE DOES A STUDY, we wont know if its the estriol, or the steriod sulfatase defic, or what.
Yes aquaphor I loved, we brought it with the third child, the peds Dr gave it to us with the second child. You will need written consent for the nursery to put anything on your newborn from your Peds DR or DERM. We had all of our boys room in, I really wasnt afraid of them catching anything. I have not had any of my boys get a skin infection related to X linked ichthyosis. Irritation to tags and seams, sometimes a tight waist band-even people with sensitive skin get this. I like cotton fabrics best, they work best with lotion. More than likely your son will not have any signs of x linked ichthyosis at birth. He may have the normal newborn quirky skin..you know the funny spots and millia, peeling, redness, (conehead) SMILE.
At the end of the pregnancy you will need ultrasounds (sonagrams) to check amniotic fluid levels, and non stress tests are a good idea as well to be sure the placenta is functioning properly and the baby is not in distress. You should NOT go past your due date with an x linked baby, there is a high rate of stillborn babies that go past their due date. (cause unknown because no one has done a formal study) I found a website about the ear wax at www.entjournal.com/htm/article11 Also this is funny and maybe I should post this as a question to those that are older with x linked, but something about them NOT losing their hair...lol In my family when we trace it, this holds true but you cant always believe what you read! HA
E medicine is a great web page I am going to write all of the pages I have found the information on so you can view them. Most are reputable sorces( such as dermatology, medical schools, hospital websites), some less reputable are animal studies,but it has nearly the same gene sequence and testing. Some are from Britain and some from Germany, luckily the German site is in English.
Posted by: threerxli

Re: Just got x-linked diagnosis - 01/13/05 03:32 AM

Look up and search the following
-steroid sulfatase deficiency
-placental steroid sulfatase deficiency
-steroid sulfastase deficiency disease
-arylsulfatase C
-Gene map locus (Im sure you know this)
Do searchs on each of these topics, you will find more this way than entering x linked ichthyosis. They are all related to x linked ichthyosis.
Another good website other than emedicine is www.ncbi.nlm.nih.gov type in omim first box) and x linked ichthyosis (second box) on their website for the search... its the johns hopkins university website.
The wont go bald website is (had to add this)www.keratin.com/ac/baldnessbiology/baldnesscauses It relates that men with sts deficiency do not develope pattern alpecia regardless of family history. Yes I have read everything. LOL thats what moms do when they want to learn more for their children...if it was published I read it.
North Carolina at chapel hill also has site info they were doing a study on skin and cholesterol. There is more, but I need sleep.

[This message has been edited by threerxli (edited January 12, 2005).]
Posted by: lisat

Re: Just got x-linked diagnosis - 01/13/05 11:25 PM

Thanks for the info - we use ncbi.nlm.nih.gov and medline all the time for work so I'd already seen the OMIM entry for STS. But the other is very helpful - I have mostly been searching using X-linked ichthyosis.

Well - I had my ob-gyn 22 week appt yesterday and I have to admit I was a little disappointed.

I told the Dr. about the XLI diagnosis and she didn't really know anything about it (which is okay), but I told her that women who have boys with XLI often have a problem progressing during labor and she said "oh - well - since it's your second pregnancy, I don't think that should be a problem since labor is usually quicker with the second pregnancy" And when I told her about not going over my due date because of the risk of stillbirth, she said "that shouldn't be a problem at all since we induced you close to your due date the first time because of high blood pressure"

Huh?? I don't think my first pregnancy with a non-affected child has anything to do with this one and just because I was induced the first time with high blood pressure, doesn't mean that will happen this time! Grrrr! So frustrating. I guess I have a while to work on her : )

Since I also had "unexplainable" high AFP and high HCG, I'm also at risk for early labor, pre-eclampsia etc. so they're just going to have me come in more often to get my blood pressure checked.

I will be collecting literature to give the Dr. on my next visit. . . .

Thanks to all of you for your help!

Posted by: lisat

Re: Just got x-linked diagnosis - 01/13/05 11:29 PM

Well - there goes that hypothesis!!

Dermatology. 2003;207(3):308-9. Related Articles, Links
Male-pattern baldness is common in men with X-linked recessive ichthyosis.

Axt-Gadermann M, Schlichting M, Kuster W.
TOMESA Clinic, Bad Salzschlirf, Germany.
BACKGROUND: X-linked recessive ichthyosis (XRI) is a relatively common genetic disorder of keratinization caused by deficiency in steroid sulfatase (STS) activity. STS appears to play an important role in testosterone metabolism. Therefore it has been discussed that the presence of normally functioning STS may be a presupposition for the development of androgenetic alopecia (AGA). METHODS: Patients with the diagnosis of XRI were sent questionnaires. RESULTS AND CONCLUSIONS: We reviewed 26 cases with XRI and noticed 11 patients with AGA in an advanced stage. The existence of two pathways for the steroid biosynthesis may be the explanation for a compensatory mechanism in XRI males. The Delta5 pathway depends on steroid sulfate activity, whereas the working Delta4 pathway produces AGA in XRI males. Copyright 2003 S. Karger AG, Basel
PMID: 14571075 [PubMed - indexed for MEDLINE]
Posted by: threerxli

Re: Just got x-linked diagnosis - 01/14/05 09:37 PM

OH MAN! I thought they had that to look forward too! lol Oh well, thought that article may have been revised.
Posted by: lisat

Re: Just got x-linked diagnosis - 01/14/05 09:42 PM

That's okay - my boys will be doomed to male pattern baldness too. . . my husband is bald and my father is too!
Posted by: threerxli

Re: Just got x-linked diagnosis - 01/14/05 10:04 PM

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.
Posted by: lisat

Re: Just got x-linked diagnosis - 01/14/05 10:10 PM

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!
Posted by: spareme65

Re: Just got x-linked diagnosis - 01/18/05 02:46 AM

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!
Posted by: lisat

Re: Just got x-linked diagnosis - 01/18/05 04:51 AM

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.

Posted by: charmed7

Re: Just got x-linked diagnosis - 01/20/05 09:01 PM

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.
Posted by: lisat

Re: Just got x-linked diagnosis - 01/20/05 09:24 PM

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.

Posted by: spareme65

Re: Just got x-linked diagnosis - 01/21/05 12:36 PM


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.

Posted by: lisat

Re: Just got x-linked diagnosis - 01/21/05 05:59 PM

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.

Posted by: threerxli

Re: Just got x-linked diagnosis - 01/21/05 08:37 PM

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???"
Posted by: lisat

Re: Just got x-linked diagnosis - 01/22/05 12:39 AM

Is the triple screen always a state run program? I only know that it is in California.

Just got my results back - I'm a carrier for XLI. The genetics counselor called and said "I have good news - you do have the deletion for STS" I had to laugh - it seems odd to hear "I have good news" and "you have a deletion on the X chromosome" in the same sentence!! I guess he only meant that it explains my estriol results and confirms the baby's diagnosis definitively. . . .

Posted by: threerxli

Re: Just got x-linked diagnosis - 01/22/05 05:50 PM

I was the happiest person alive to find out that I was a carrier for xli. It is strange, but compared to the other problems that my babies could have had,and the fear of what the doctors were telling me, XLI being cosmetic for the most part seemed so minor. About your question, the "state run program". This is what I know. When I lived in North Carolina and had my second son, it was state run. Mostly to have doctors let parents know about abnormal test results and push for pregnancy termination, so that the state had less people to pay for, as far as disability goes. I have a copy of this "new" policy somewhere on file. It made me sick to my stomach to read it. I am very mixed on my feelings. I am prochoice, but I also believe that parents should receive facts about the test results. I also believe that having the testing helps a parent to prepare to help their child at birth, and come to terms with anything found before the child is born. I know that had my sons had downs syndrome, I would have found out as much as possible to have doctors and medical staff ready. I would have used the information to give my child the best life and education possible. The point I have is that parents should have the choice to have the testing AND the correct information to make their decisions. Somewhere in this medical mess, there is a huge gap.
By the way, congrats on the XLI carrier status. SMILE