AOSupport

Hello all,

it is good to see that you guys have each other to rely on.  When my daughter was born 15 years ago we didn't really have anyone to turn to for support specifically about AOS.  My husband and I visited every library we could get into to find information on AOS, and only came up with a few pages and a few doctor names.  Shortly after our son was born with AOS 2 years later, we got internet access and did what searches we could through that, but still very limited.  Of what we had found, there have been at least 1000 cases reported worldwide since 1945, and still counting.  You just have to dig to find those cases.  We also came across a Dr. Ernst Reichenberger at Harvard, that was doing research on musculoskeletal syndromes including AOS and we submitted bloodwork from all four of us and my father (my mother passed away when I was 7 months pregnant with my daughter).  To my knowledge, there still isn't a genetic test for AOS.

I am now 36 years old and pregnant again.  Total shocker, and am scared out of my mind that this one will have the syndrome too.  I don't believe in abortion, so even if they come up with a test, we are in this for the long haul.  I just wish I could have something "normal" for a change ya know?  In the past we have been there, done that with doctor visits, hospital stays, therapies, surgeries, genetic tests, etc... and for the past few years we have just "lived" so to speak.  No major incidents or concerns (knock on wood).  I am just not sure if I have it in me to do it all again.  Don't get me wrong, this child will be loved, I'm just feeling overwhelmed right now.  I just started going to college for myself this summer.... so kinda thrown off by the timing.

Guess I just needed to vent a bit and make a connection with others that know what AOS can do to your stress and anxiety levels.  

Again, I hate to see that there is a need for sites like this, but am glad that you guys have found each other to rely on. 

Elaine

Mother to Drianna and Kaige..... and??

Hi elaine,

Welcone on AOSupport.

I can imagine that you're scared! Two children with AOS and the third is on the way. I want to whish you all the luck that this child is healthy and doesn't have AOS.

But if so... You did it twice before so i'm convinced you will en can do it again!!

Greets Sandra

What a strong momma you are!!! Hang in there! The unknown is often more stressful than the known even when it is hard. How far along are you? Have you had an ultrasound yet? You are right about no genetic tests available, not yet anyway but hopefully in the next couple years. Please keep us updated! I would love to draw upon your great experience!

Thanks for the welcome.  I will try to convey our story as I can.  I tend to get long winded, so bear with me. I guess it's my coping mechanism.

Drianna was born weighing 5 lbs. 14.9 oz, she was induced 5 days early.

Born by emergency c-section after 17 hours of labor that stalled.  I developed a fever and it was decided that I had to have the C.  I was terrified as I'd never been in the hospital before in my life and after going through 17 hours I was exhausted.  I told the docs that if they were cutting me open they were knocking me out first. They argued, but finally gave in.  It was probably one of the biggest mistakes I could make, as she was born blue and we don't know what all else happened at birth.  The pediatrician assigned to us barely came out and told my husband and his mother that there were superficial problems  but we'd just have to deal with them and then he left to go back to bed. 

At first they thought she had amniotic banding, as she had shortened/almost missing toes. She had an ulcerated area approx 2.5 inches across on the very top of her head, where there actually wasnt any skin, but what would have been a clear membrane.  It was black from brusing; as they kept thinking she was breech when they would check me, and it was actually her head.  Two days later, when I was told i needed to get out of bed and start walking, I got dressed and walked down to the nursery only to be told to go back to my room,  and that Angel Flight was on it's way to get Drianna.  All we knew was that Dri had trouble sleeping the night before.  When the Angel Flight team boarded her up and brought her to my room to say goodbye, they explained that she had what appeared to be seizure like activity (a bi-pedaling motion), and that they wanted to run an MRI at the Arkansas Children's Hospital.  3 agonizing hours later, they called and said for us to get there if we could, as they didn't know if she would survive the night.  She only had bits and peices of brain matter that might measure up to approx. 1/3 of normal brain mass. She couldn't keep her body temp up, did not want to eat, etc....   My so called doctor wouldn't let me leave because it was "too early" for my release.  Needless to say my blood pressure went out the door.  They tried to sedate me with a couple meds and when that didn't work, as my blood pressure kept rising (I think it maxed at 215/110.) I was finally allowed to leave for the 2  1/2 hour drive.  I finally passed out 30 minutes into the drive.  When we arrived at the hospital, Drianna was in the NICU and we could only see her for 30 minutes as the doctors tried to guess at what was going on.  The next day we were given 2 pages of information on AOS and the rest is history.    

Drianna is a happy 15 year old, that happens to have severe scoliosis, cp, microcephaly, hydracephaly, NPO/fed via Mic-Key button, cortical visual impairment, epileptic, non ambulatory, non verbal, MR, etc...  She has a bald spot about the size of a fist that's bumpy and veiny.  As she hates to have her hair brushed, I keep it cut short now, even though the stares and questions really get old after all this time.  I used to keep her hair in a ponytail that hid the bald spot, but it just got to be too much of a hassle.    She likes music, movies (like Shrek), and people talking to her especially with higher pitch or lower pitch voices.

My son  was born two weeks late,  by c-section after 10 hours of stalled labor, weighing 7 lbs. 14 oz.  The stress of labor caused a mild subdural hematoma, but there didn't seem to be any severe damage from that.  (This time I stayed awake, but had headphones on so i didn't have to focus on the surgery sounds.)    He had a faint bald streak across the top of his head, slightly larger fontanel that healed over time and short toes on one foot.  He later had to deal with cryptorchidism and mp with testosterone shots and surgery when he was 1 year old. He is now 13 and it's  questionable whether he will have to have help with puberty.   He is for the most part a typical kid, has taken karate for 7 years, on the chess club and learning to play base guitar.  He's not a competitive kid, but tries to abide by the rules and do the right things.  (of course that tends to get him picked on, but that's part of why we got him started in karate in the first place).  Hopefually, he will be testing for his junior black belt this coming summer.  He grows his hair kinda shaggy to cover his bald spot.  He doesn't seem to be too bothered by the streak, because it's in the shape of an L and our last name starts with L.   He may decide when he's an adult to have the surgery to remove the bald spot, but for now he's accepting of how things are. 

I know this is a rough run down, but here we are. 

Our hearts go out to you. There is such blissful ignorance with a first baby, but knowing what could possibly be ahead of you, whilst it does allow us to prepare a little, can also be as you say, absolutely terrifying. I was 38  when I had Sophi and she was a surprise pregnancy .....and like yourself  I had been starting to think about new focus in my life....so there was alot of re-adjusting mentally. We can only imagine how mixed your feelings must be right now. We offer  the only thing we can...our prayers and the knowledge that you are not alone.

Minimal update.  We had our first ultrasound on the 15th, nothing showed to be out of the ordinary so far, but of course it wasn't a very detailed US.  We will be having a level 2 US at some point, but not sure when.   I have to do the typical genetic blood work  on Feb. 3rd and should get to hear the heartbeat.  I would love to have a level 3 US, but doubt they will unless it would benefit genetic research somehow.  

That is good news! I am keeping my fingers crossed for you. Hopefully you don't have to wait and worry too long before your level 2. Looking back after we had Kyle, his ultrasound pictures did capture his tiny little toes and very large soft spot. We just didn't have any reason to suspect anything but a perfectly healthy kiddo. I don't know which would have been worse, knowing ahead of time, or not. Anyway, keep us updated and I hope everything continues to go well.

Hello again, I know it's been a while since I last checked in. 

Have had two level II ultrasounds (one being today).  So far nothing has been noteworthy or stood out as a possible issue.  Although I want to accept that as meaning everything is ok, I know better than to assume anything. 

I have been diagnosed with Gestational Diabetes with this pregnancy, and let me tell you it has been the weirdest experience.  My sugars have done the complete opposite to what they should even with the insulin.  I didn't have this with my other two pregnancies, so this has utterly stressed me out.  (On top of this being Finals weeks--meaning they started this week and end next).   I am tired all of the time now, partially from very stressful, unfulfilling job on a day to day basis, trying to survive college, and now all the glucose checks and ups and downs throughout the day.  Yes, I'm whiney.  Very much so, and it's driving me nuts.  And of course adding in the factor that my husband has been layed off for 7 weeks now, doesn't help. 

Baby Rogan is measuring to be about 3.6 lbs and about 10 days ahead of growth schedule, so I have to have bloodwork every week (started about a month ago) til he's born. (adjusted due date is now July 2, 2010)  I was denied a 3D scan to see if there might be any obvious skin abnormalities, so am quite bummed. 

That's me in a nutshell.  Hope everyone else is having a good day and no major drama concerning AOS. 

Elaine

Hi Elaine,

My name is Danny,

I'm from England and I have AOS, I have one leg, 2 fingures and a thumb on each hand, left arm thiner than the right and stumped toes on the good leg.

I have read what you have wrote and would like to say weldone for your courage.

Your kids sound amazing and so do you brave lady.

The thing that made me write was your son. Your son is learning to play bass guitar and is about to hit puberty with AOS I've learnt.

Dispite my AOS Issue I'm in a band and I also play bass guitar (with two fingures) and i've been thrugh puberty (obviously) with AOS.

When I hit puberty my mother got depression (not because of me) she had suffered from extreme depression before I was even born. When it happened I was 12 she didnt even know my name at the early stages of her illness. She'd sit there and not say a single word sometimes for hours which was worsened by my dad working away to support us. He had to.

I never had a mum n dad i suppose during my teenage years. They have always loved me to bits n' vise verser. I guess what i'm trying to get at is I turned out really well, decent guy, have had a normal amount of girlfriends plenty of friends most able bodied a "NORMAL LIFE".

There's been difficult times mentally and physically draining. In a world where i sometimes I feel like an alien, it's been terribly hard at times but I aint giving up! whats the point in that eh?

Your son will get support from you unlike what i had from my mother and i turned out ok, so please take what I have said as a warm jesture of hope and courage for the future in the knowledge that you're never alone.

All the very best

hope every things ok for you xxx daisy and family