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#10353 - 01/06/05 03:59 AM Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
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!!

Lisa

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#10354 - 01/06/05 08:32 AM Re: Just got x-linked diagnosis
Les Avakian Offline


Member

Registered: 08/13/00
Posts: 680
Loc: Fresno, Calif. USA 93705
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.
Sincerely,
Les Avakian
_________________________
Les Avakian

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#10355 - 01/07/05 09:00 PM Re: Just got x-linked diagnosis
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
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.

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#10356 - 01/11/05 08:57 PM Re: Just got x-linked diagnosis
charmed7 Offline
Member

Registered: 03/07/04
Posts: 165
Loc: Hartford, CT
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.
_________________________
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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#10357 - 01/12/05 12:20 AM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
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. . .

Lisa

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#10358 - 01/13/05 03:06 AM Re: Just got x-linked diagnosis
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
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.

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#10359 - 01/13/05 03:32 AM Re: Just got x-linked diagnosis
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
Look up and search the following
-steroid sulfatase deficiency
-placental steroid sulfatase deficiency
-sts
-steroid sulfastase deficiency disease
-ssdd
-arylsulfatase C
-ARSC1
-Gene map locus (Im sure you know this)
Xp22.32
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).]

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#10360 - 01/13/05 11:25 PM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
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!

Lisa

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#10361 - 01/13/05 11:29 PM Re: Just got x-linked diagnosis
lisat Offline
Member

Registered: 01/05/05
Posts: 61
Loc: Encinitas, CA, USA
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]

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#10362 - 01/14/05 09:37 PM Re: Just got x-linked diagnosis
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
OH MAN! I thought they had that to look forward too! lol Oh well, thought that article may have been revised.

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