posted December 03, 2004 12:58 PM               

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Originally posted by stathmom:
My sister is going thru a stressful time. She had a test come back saying that her Estroil levels were low. Dr. is telling her that it could be a few different things like SLOS, Ich., etc.
I am looking for some guideance,information, and experiances in this area.
Thank you to everyone who has been so nice and helpful to me. What a great site to find.

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Hi, my name is Cindy and I have a son with XLI. I had the Tripple Screen test which is known to be inacurate. However, my esterol level was .04 at 18 weeks pregnant. They also told me my son would have Downs Syndrome. (1 in 91% chance). I was devistated. We eventually went for aminio. and it ruled out Downs. He was confirmed as having XLI.

Birth was normal, and went very well. I have heard of several people who have had their labour stall resulting in C-Section.

Connor is now 3 1/2 and has speech and developmental delays. We were told when they were looking for the deletion of the Steroid Sulfatase they only looked on the gene level, and could not find anything else. Now with the new delays, we contacted Genetics and they said they would have to do a blood test and look futher at the chromosome level to see if there are any other problems relating to the delays.

Connor's skin looks dry, but he is beautiful. My best advice is to get as much information and educated before the birth. I found that it helped me to deal better with my son's condition and I found infoming the doctor and medical staff also helped.

If you or your sister would like to e-mail me back or would like to talk on the phone please let me know. My e-mail address is CGMcmax@hotmail.com. I'am in Canada. I have also found the Ichthyosis Foundation to be an excellent resource when I was looking for information.

Take care. Hope this helps.

posted December 07, 2004 02:19 PM               

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Originally posted by threerxli:
Cindy... My middle son had speech trouble too. This sounds strange but it was improved by removing the compacted ear wax. We could not even see the wax in his ears at the time. He was at the doctor for all of his well baby appointments and even at two for a check up, they never saw it. I took him to an ears nose and throat Doctor (ENT) and he saw it. It was like an invisable film over the drum. Strangely enough we had it removed, both ears were scraped I guess you would call it. My son still said things like "gee the duck" instead of "SEE the duck" mostly because that is what he thought the word was. He could not hear words with SSSSSS FFFFFF HHHHHH soft sounding letters until the wax was removed. After the ears were fixed by removing the wax we had to reteach him his words. Most of it was habit because when he learned the Alphabet he could sing his "ABC'S" getting the "C" correct. but still said "GEE the dog?". Anyway this may or may not be the problem, but it happens a lot to children with ichthyosis.(ear wax) All three of my boys have XLI, and he was the only one to have the speech/hearing trouble. We had thought his hearing was fine, he could hear us if we whispered, he just couldnt hear the subtle sounds. He is almost eight now, and doing great, we just pay special attention to his ears. Its funny, but every so often my older one starts shouting, it's then I know his need a good cleaning too. We use a syringe and ear wax remover. They also have a little suction device at the ENT if we cant get it our selves. Thought this may help.

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Hi there, thank you for your reply. Connor is going to a ENT in the next few months. This is good to know. He did have his hearing checked, but it could have been missed.

A lot of medical staff here, have also not heard of XLI.