AOSupport

Thanks for reading my post!  Our son Andrew was born in July 2009 at 4 lbs 3 oz and has mild cutis aplasia, a high palate, and a fish shaped mouth.  He failed his infant hearing test 4x.  He is adopted and is native american and mexican.  At 37.5 weeks, they did an emergency c-section because there was no more fluid around him. After being in the NICU for 2 weeks, we brought him home to VA in August and took him to the pediatrician. She is very thorough and thankfully ordered a bunch of tests and specialist visits.  So since August we have taken him to the geneticist, the cardiologist, opthamologist, nuerologist , gastro, etc. Adams Oliver came up as a possibility at the geneticist visit.  Along with the cutis aplasia, they noticed that he also had small fingers and mottled skin patches (bluish vein color).  A funny moment was when Andrew kicked the dr when she was holding him and she said "well he's a feisty one!" :-)  They ran a bunch of blood tests and so far everything came back fine. They said come back in 6 months as some genetic disorders can only be diagnosed from symptoms. 

The nuerologist ordered tests and this Friday Jan 8 Andrew is going to have a brain and spinal cord MRI. (I'm a little nervous but they assured me that even if he has a genetic disorder, he should be fine under 2 hrs of anasthesia. Does that sound right to you?)  The heart echo and EKG came out fine. The kidney and sacral dimple sonos also came out fine. His eyes are fine. One big thing is a potential hearing loss. They have tried to assess it several times but to no conclusions. He does not startle to loud noises at all. His left ear tube seems a lot smaller than his right one. They are going to do a BEAR (brain acoustic response?) but they won't do it with sedation until he's 6 months officially.) Meanwhile the audiologists are saying we need him to have hearing aids now if there's a problem.  hmmmm  I guess we are a little tired of all the tests. I feel badly that he is so small (now 11 lbs 8 oz) and they keep taking blood and making him pee in a bag. ;-)  He is a wonderful boy and loves to smile and giggle now (5 mos old) but I hate seeing him suffer that way. 

To make a long story short, is there anything else we should be looking at or looking for?  Does anyone else have a child with similar symptoms, I am especially interested in the potential hearing loss and if it's associated with AOS.  THANKS for reading my post!  I appreciate your help and input!  Mai ;-)

First of all congrats on your new baby! Are you finalizing next month? That is always exciting. I am so glad you found are online support group.

Here is a link to how to diagnose AOS. http://www.aosupport.org/diagnosis.htm Your doctor is correct, there is no test yet they can do to prove AOS BUT, a clinical study was just published with a chart on how to diagnose it and from what I can tell, your son meets the criteria to have an AOS diagnoses.

I am so glad you have a good doctor who has stayed on top of testing. It is hard to go through it all and so sad to see the little one deal with it but I PROMISE it is worth it. It is SO important to know what is going on with your son because each case of AOS is so unique. I am especially happy to see you have had an ECHO and will have an MRI as well. I would recommend staying on top of the heart. That is one of the biggest concerns. They fact that he has already checked out good in that area is comforting but if at any point there are complications CHECK THE HEART AGAIN. (if he has weight loss, trouble gaining weight, drops in percentiles, labored breathing, blueish toes or lips, etc.) My son had an MRI on his head when he was about that age and everything went fine although the test was only about 30 minutes (but he was out for longer).

As far as the hearing... My son failed the hearing test in the hospital but when they did it again he passed. Since then he has had chronic fluid in his hears for almost a year and they will finally be putting tubes in soon. During this time he has failed hearing test but I understand this is a completely different story than Andrews. This is my only personal experience I have had with ears. While fluid in ears is very common in children and babies, his docs have wondered if his is AOS related, or I guess more specifically related to his vascular abnormailities. As far as my experience with other families, hearing loss, although not common, has been reported and while I don't know with certainty if it is directly linked to AOS, I will do some digging and see if I can find anything or anyone that can help on the subject for you.

Good luck on the upcoming MRI

Ky's Mom at 09:51AM on Jan 06, 2010

First of all congrats on your new baby! Are you finalizing next month? That is always exciting. I am so glad you found are online support group.

Here is a link to how to diagnose AOS. http://www.aosupport.org/diagnosis.htm Your doctor is correct, there is no test yet they can do to prove AOS BUT, a clinical study was just published with a chart on how to diagnose it and from what I can tell, your son meets the criteria to have an AOS diagnoses.

I am so glad you have a good doctor who has stayed on top of testing. It is hard to go through it all and so sad to see the little one deal with it but I PROMISE it is worth it. It is SO important to know what is going on with your son because each case of AOS is so unique. I am especially happy to see you have had an ECHO and will have an MRI as well. I would recommend staying on top of the heart. That is one of the biggest concerns. They fact that he has already checked out good in that area is comforting but if at any point there are complications CHECK THE HEART AGAIN. (if he has weight loss, trouble gaining weight, drops in percentiles, labored breathing, blueish toes or lips, etc.) My son had an MRI on his head when he was about that age and everything went fine although the test was only about 30 minutes (but he was out for longer).

As far as the hearing... My son failed the hearing test in the hospital but when they did it again he passed. Since then he has had chronic fluid in his hears for almost a year and they will finally be putting tubes in soon. During this time he has failed hearing test but I understand this is a completely different story than Andrews. This is my only personal experience I have had with ears. While fluid in ears is very common in children and babies, his docs have wondered if his is AOS related, or I guess more specifically related to his vascular abnormailities. As far as my experience with other families, hearing loss, although not common, has been reported and while I don't know with certainty if it is directly linked to AOS, I will do some digging and see if I can find anything or anyone that can help on the subject for you.

Good luck on the upcoming MRI

Hello, congrats, and you are right, he is beautiful  I am also the adoptive mother of a son (who is also Native American, despite the blue eyes, lol) who has probable AOS. 

Ky's Mom gave you the best advice, all I have to add is how very important it is to get whatever medical history and physical descriptions you can about his birth parents.  I'm sure you know that, and I understand it isn't always possible, but I've found that information has been extremely helpful when it comes to figuring out the puzzle that is Isaiah  

Thanks for your answers and your warm welcome!! Sorry I have not replied since Jan.  Andrew ended up in the hospital with RSV for a few days and been sick a bit since then. I am glad winter is coming to an end!  we got a lot of snow this year.

The MRI went fine. And actually they are going to put tubes in his ears at the end of this month. Each time a different dr looks at his ears they always say he has the smallest ear canals so i hope it goes smoothly.  Andrew does have a low weight also, he's at 13 lbs 10 oz and is almost 8 months old.  We have more drs visits lined up for april but overall he is doing well. He started sitting up and rolling over recently. He does get the blue skin and lips when he cries a lot. And recently i noticed his toes/feet looking bluish. We go backt o the nuerologist and the geneticist in april for hopefully some more helpa nd answers. 

I will check out that website and I also want to read about your kids too when i have a moment. Sounds like they have great moms!  I really appreciate your help!  Mai   

Oh i forgot to mention... the adoption was finalized right before Christmas!  We are so happy!  Shannon that is so interesting that Isaiah is also native american and has AOS.  I wonder if there is a link there.  Unfortunately we don't have limited medical history from the birthmom and none at all about the birthfather.  The birthmom doesn't want any contact now but said she may in the future.  Anyway, thanks again! 

That is so exciting that the adoption is finalized!  Congrats!

Kyle also gets blue lips/skin/toes a lot. He doesn't cry a lot so I mostly just notice it when he is cold or even more so if he is cold and we put him in a warm bath. (the tempreature change is what does it I think).

That is so funny what you said about the small ear canals. Every doctor we have ever seen makes a comment on how tiny Kyle's ear canals are (and hairy haha). It took our pediatrician a few times before he learned to just jam that sucker in there as far as he can to get a decent look. Kyle has the smallest tubes available because of that.

Has anyone else noticed this with their child?

Hi, my son hasn't been diagnosed with AOS as of yet, but I have my suspicions.  Here are some things that I have noticed that are different about him:  Mild Cutis aplasia, cutis marmorata (sp), he also has very small ear holes (and hairy), but hearing is fine.  He was very "fuzzy" at birth.  His hairline met his eyebrows, but now his hairline is fine.  He also has a sacral dimple.  I have also noticed that the little piece of skin between your upper lip and gums (I think it's called a frenum) is thick. 

Also, he does have a lot of Native American in his background.  My husband's mom's biological family (she was adopted) are part of the Monochan Indian tribe and my great-grandmother was full-blooded Native American.

Did anyone else's child also have a sacral dimple at birth?  We had an u/s done of it and they said it was fine, but sometimes it's associated w/ spina bifida, so they just wanted to rule that out.