A Little History and Awareness

A little history on Ainsley and spreading a little awareness on a few things.

Ainsley was born at 37 weeks 5 days.  For the most part it was a smooth pregnancy with the exception of contractions starting a few months early.  We controlled that with BP meds and everything seemed to be going great.  I went in to the ER on 11/26 with pains that I thought were contractions.  The next morning I was induced to speed things along and we had an Ainsley.  7lbs 7 oz and 21 inches of bouncing baby girl.  Labor was fast, the fastest of the 3.  She was actually trying to make her appearance before the doctor got there.  When he arrived he realized the cord was around her neck and had a loose knot in it.  He thinks that happened during delivery and didn't cause any issues.  The only problem was her entire face was purple, not from lack of oxygen but because the labor was so fast and she hit my pelvis with such force that she was bruised.  She was still beautiful.  She passed her screenings and her Apgar scores we good.  She was a little jaundice but so were the other 2 so we expected it.  We were discharged the next day and life was grand.  Fast forward to her 3 day check up.  She wasn't eating, at least not enough to make me happy.  I was forcing an ounce in her every 4 hours and she was spitting up what seemed like 2 ounces.  I figured it was GERD since the boy kid had that when he was young and we went to a sensitive formula.  At her appointment they did the usual, weight, height, head circumference, looked her over and listened to her heart.  Then I heard: I hear a murmur, lets go do an echo.  Say what?! All I heard was there is something wrong with her heart.  At that point I was not aware of what a congenital heart defect is and how common they are.  CHD affects 1 in 100 children.  Some are severe and some are not so bad and don't really cause any issues for the children..they are just monitored.  The echo showed Ainsley had a PDA and an ASD.  Her doctor quickly told me that out of all of the heart defects she got the best 2 and not to worry because they could close on their own.  So, we head home for me to go straight to google and research.  Turns out the doctor was right.  Yeah, I needed google and WebMD to verify it for me.  1 week later we go back for a follow up echo to see if the openings had closed, they hadn't.  I mentioned that Ains had been running fever.  A CBC show a very high white count which resulted in hospital stay #1.  Turns out it was just a virus and a few days later we went home.  This was just the beginning. She was my first  true winter baby.  I knew we had to be careful and watch for cold, flu and RSV.  I did what we were suppose to.  No leaving the house before her first immunization, no sick people allowed over, limit the number of people visiting..i thought we would make it through the winter healthy.  Little did I know.  We spent the next several months in and out of the doctor's office and hospital. They kept saying that her heart defects were pulling her immune system down and we just had to make it to around 18-24 months to repair them.  I became the crazy paranoid mommy that calls the doctor's office with every sneeze, after all she was admitted every time I thought she had a cold so what normal mother wouldn't go off the deep end.  Fast forward to May. Ains has a fever and now breaks out in huge red blotches over her entire body every time she has a bottle. We went through latex allergies and allergies to every formula before we decided it wasn't an allergy.  Trying to keep her out of the hospital she got Rocephin shots 3 times that week. I've had many and they hurt like hell.  Her white count was over 20.  That normally means a bacterial infection (that's what we were told).  We did manage to avoid being admitted.  I kept telling them something was wrong and they kept saying it was just due to her heart.  A few weeks later..sick again.  We called and got a work in appointment.  We have 1 pediatrician office.  I'm not sure if it was due to a lack of doctors or organization skills but work in appointment meant coming in at your appointment time and waiting for 3-4 hours to see a doctor.  I gave Ains Motrin and we went to the appointment.  About 4 hours later we were finally called back. As we sat in the room Ains drank a bottle and when she finished she went limp.  She wouldn't respond.  She was just laying in my arms.  I ran into the hall with her and started yelling for a nurse.  One came and took her and yelled for a doctor.  2 came in.  By this time she was blue and shaking.  I was crying.  One called for meds that they didn't have and they had to debate over which meds they had that they could give her.  The other yelled for a crash cart and to call an ambulance.  I'm balling and cant think...all I see is my baby laying there blue.  They hooked her to a pulse ox machine and it registered at 60.  He kept telling me it was ok and that she was getting enough oxygen. The other doctor gave her Valium to stop the seizure.  After 10 minutes it hadn't stopped and they gave her more.  She was just laying there grunting and not responding.  By this time my husband had arrived and a few minutes later the ambulance did.  When we got to the ER her temperature was 104.  After tests it was determined that she had a febrile seizure due to another virus.  She was admitted for observation.  While we were admitted a new doctor made rounds.  He told us we were being discharged and that she just had ANOTHER virus.  He was walking out and I told him that something was wrong.  She didn't roll over or sit up.  She choked every time I tried to give her baby food.  She was always hungry, she was eating 16 ounces every 4 hours. She was always sick...something was wrong and it wasn't all her heart.  He looked her over and said that he believed she had Sotos Syndrome and wanted to send us for genetic testing.  Hello, our new pediatrician.  We moved to his office immediately.  We started physical therapy and test after test after test.  A few months later we had our results..Sotos Syndrome - a very rare genetic condition that no one has ever heard of.  Sotos Syndrome aka cerebral gigantism, is caused by a mutation or deletion of the NSD1 gene.  It causes children to grow at an unbelievable rate, large hands, feet and head size, and many associated conditions like kidney defects, conductive hearing loss,  heart defects and autism spectrum disorders.  So far Ains hasn't had any kidney or hearing issues. We are tested yearly as a preventative measure.  We finally had a name...with a name we knew what we up against and we could kick its ass.  We saw specialist after specialist. It's good that I did my homework on Sotos because the doctors had never heard of it so I spent a lot of time explaining to them what it was.  Ains is currently almost 3.  She is a couple of inches and pounds smaller than her 6 year old brother, she is the size of the average 6 year old.  Recently she was diagnosed with PDD-NOS which is on the autistic spectrum.  She has major meltdowns daily.  That combined with the regular terrible two's can be a challenge.  She has a high tolerance to pain and hurts herself and others during her meltdowns.  She is always covered in bruises..I am too.  We are working on regulating her medication so that hopefully we can get the meltdowns under control.  She is miserable during them..she doesn't process changes in her routine very well and does not like loud noises or crowds.  We deal with people's judgmental looks and comments often.  People love to tell me that if I don't get her under control now that I never will or that if I spank her she will stop throwing "fits" when she doesn't get her way.  Most people know what Autism is but they associate it with children that have severe disabilities that you can see...they don't understand that a child that appears to be healthy on the outside can have this.  They are quick to judge me as a bad parent or a parent that "spoils" their kids therefore creating an attitude in her that she gets what she wants when she falls on the floor kicking and screaming.  I've learned a lot in the past 3 years.  I've learned about CHD's, Sotos Syndrome and Autism.  I've learned you really cant judge a book by its cover.  I've learned what true fear and worry is.  I've learned that as unfair as it is, young children can be taken away from you by horrible illnesses/diseases in the blink of an eye.  I've learned that no matter how much you love your doctor that they can miss things and if they aren't listening to you that you need to go somewhere else. I've learned that life isn't always easy or fun but it's worth it.  I've learned that when you have a sick child that you are never truly at ease and the worry of what might happen never goes away.  I've learned to be more patient.  I've learned that finding groups of other parents going through exactly what you are going through is a life saver.  I've learned to listen to advise from other parents and I've learned that its up to parents to bring awareness to the conditions that their children have.  Awareness results in funding which results in research which results in more treatments.  If more people were aware of Sotos Syndrome it may not have taken a year for us to find out what was going on with Ainsley.