Our Story

From what I can tell from the people that I have met in the Rett community our story is pretty garden variety....

Emma was born in March. It was a very easy pregnancy as far as twins are concerned. No complications, no bed rest, all signs pointed to a perfect pregnancy.  I stayed away from caffeine, booze, ate healthy, no gorging on cake and cookies, took my vitamins, followed all of the doctors advice.  I carried them until 37 weeks, great for twins. I worked up until the day they were born.  No warnings, no signs of trouble ahead.... everything was perfect.

Emma went in the NICU immediately after being born for a couple days due to problems regulating her body temperature but the nurses and doctors did not think much of it. They called her a "pokey eater" but the nurses said that she was eating and that was all that mattered.  No one thought much of her trouble, she was out of the NICU in a couple days and she came home with us.  All the doctors and nurses said you both were perfect.

After we went home Emma was the perfect baby.  She never cried, never fussed, she was happy and content, unlike her brother who seemed to have a sensitivity to altitude and would cry when held while sitting down.

The first obvious signs that things were not perfect started around 4 months old.  Emma was throwing up constantly, like 6 or more times per day. Every time I fed her she threw up. We changed her from breast milk to formula, from Gerber Good Start to Alimentum (AKA liquid gold $$$) and put her on medication, nothing worked.

I took her to the doctors, over and over.  They ordered a sonogram to check to she if she had pyloric whatever, but she did not thank god.  They were not happy with her weight gain,  but the doctors kept saying she'd grow out of it, "she's just a pukey baby" and "all babies spit up". No one understood the extent of her suffering at home, the way her little body wretched as she got sick over and over again at home... it was terrible.  I think they just thought I was being a hysterical new mom.

I changed pediatricians 3 times.

But still Emma's doctors said she looked great. Emma was growing well, she was healthy, strong and beautiful. She held up her head, she could sit up, she played with toys, fed her self .....

At 9 months I raised concerns about her development.  Emma was no longer catching up with  her brother.  We used to joke that whatever Manny did, Emma would do 2 weeks later but at some point that stopped. I am not exactly sure when.  The doctor said that "all babies develop differently" and not to worry.  They thought I was being a hysterical new mom.  I believed it briefly, I think because I wanted it to be true.

At 10.5 months I told anyone that would listen that something was not right. Emma could sit up but not on her own, she was not crawling like Manny and would frequently fall over when sitting. We had to keep pillows set up all around her like orange caution cones. I said that I wanted to take Emma back to the doctor but every one suggested that just I wait for her 1 year appointment, I would not.



At 11 months Emma's doctors agreed that she was behind and referred her to early intervention.

At 12 months she was receiving Occupational Therapy, Developmental Therapy, Physical Therapy, Speech and Language Therapy, Aqua Therapy and seeing a Nurse weekly through Early Intervention.

After she started Early Intervention our lives be came therapy, therapy, therapy. 5 days per week.

The early intervention people suggested that Emma see a neurologist and a GI doctor so we did.  The GI doctor ordered x-rays to see if something was twisted in her digestive track.  They called me at school to let me know that her digestive track looked fine but her heart looked enlarged.  I almost died on the spot.  I felt like someone ripped my hear out.  I scheduled the EKG for the next day.

My husband and I took Emma in for x-rays of her heart and an EKG. She did a great job and was very patient.... for the most part.  When they tried to do the ultra sound of her heart chambers she had all the prodding she could tolerate and she FREAKED.  She became so upset she threw up all over the place. Her heart was fine.

GI wanted blood to test for gluten allergy, she did not have it.

By 16 months Emma had made progress, but not what we had hoped.  She still was not walking, or crawling or pulling up.  She was getting stronger, she could sit up on her own but it was not the gains we had hoped for after 4 months and we decided to do the medical diagnostic.  The wait was 6 months.

At 17 months I took Emma off milk against every ones advice and she stopped throwing up the next day and she has been on a dairy free diet ever since.

At around 18 months Neurology ordered a TON of blood work.  They needed 9 vials of blood form my sweet girl.  Her dad held her while they tried to get the blood but the lady could not find the vein and she just kept sticking Emma and making her cry.  I made them stop, I would not have my baby tortured in this way.  I called her pediatrician and she had a specialist come down to her office a few days later to get the blood.  She was still upset with the blood draw but it was one stick with the needle and done.

All of the results from neurology came back normal except L-carnitine so we started supplementing it with medication.  Two weeks after we started the L-carnitine Emma started crawling.  We were SO happy. One month later she was pulling up to a stand at furniture and cruising around the house on her own.  We were sure, everyone was sure that she'd be walking independently in no time.

At 19 months, in October, two months after she started pulling up Emma started doing a repetitive movement with her left hand. No one understood why she was doing it. Her neurologist said it was a "stereotypy" and that they can stop as suddenly as they start.  None of the doctors seemed that upset by it.  She also stopped looking at people, it was impossible to get her to look you in the face not matter how hard you tried.

The plan was more therapy, therapy, therapy.

At 21 months, I became fearful that Emma had lost her hearing. She did not respond to her name or any other sound that was not at a deafening volume. I followed her around the house banging things.  I must have looked completely mad running around the house banging on things.  I took her to the doctor and she agreed and referred Emma for a hearing test. They did an ECHO test and a booth test.

I never wanted to fail anything more than I wanted to fail that test.  I was so upset when they said her hearing was fine.  I know that must sound crazy but if she could not hear, we could fix that. She could get tubes in her ears, implants, whatever.  But ... if her brain was receiving the sound, why was she not responding.. that was much scarier.

Emma's therapists began throwing the idea of a sensory integration disorder around at this time.

At 22 months, in January Emma seemed a shadow of the girl I had 6 months before.  She was quite, silent really, she did not respond to her name anymore, she didn't laugh, she didn't play, she stopped interacting with everyone, she would not look at anyone, she would not let you hold her, you could not read a book to her, she did not clap anymore, she did not really react to anyone or anything.  She seemed empty most of the time. She had freaking out episodes. It was very hard.  All she did was walk.  From the time she woke up until she went to bed, round and around and around the house.

I dreaded trying to find her something for her birthday because she did not show ANY interest in ANY thing.  To be honest I hate trying to buy her toys, it is just a painful experience for me because my baby does not like them and it is a painful reminder.

On January 3rd I finally took her to Children's Memorial Hospital for a Pediatric Diagnostic. She was observed and examined by a specialist in pediatric physical therapy, occupational therapy, a pediatric nurse and a developmental diagnostic pediatrician.  They ordered more tests, a pediatric eye exam, an acoustic brain steam response test and genetic testing.They diagnosed Emma with a delay of unknown origin.  Hey!  Thanks!  Already knew that.

Ahh, the genetic testing.  They said that they wanted Emma have two genetic tests, a chromosomal microarray and to be tested for Rett Syndrome.  BUT they said "Don't look it up because it will just scare you and we are 95% sure that she does not have it"  I of course immediately looked it up upon leaving the office and they were right, it did scare me.  It became my new worse nightmare.  It was the worse thing I could imagine happening to my baby girl.

I have an irrational deep hatred for those people, I think because I need someone to be mad at and they are safe to hate.  I don't really know them, I don't have to see them.  However, despite my psychological insight, still feel intense hate them for telling me lies, that it was 95% unlikely that she would have it.   I hate them for giving me the false hope that I clung onto so desperately for months .....

Deep in my heart I think I knew after reading the criteria, I think in my heart I knew she had it because I kept looking it up but my brain would not listen, it kept holding on to the "95% sure".  I must have looked it up almost daily.  Read as much about it as I could, from as many sources as I could.  "What are the inclusion criteria, what are the exclusionary criteria, she has this but not that" ... blah, blah, blah.

One night in January as I was putting her to bed I noticed that she was rubbing the fingers of her other hand together and I cried...  I knew, it was Rett.  But wait! "95% sure", maybe it was something else I told myself.

At 23 months we took her in for the Acoustic Brain Response Test (ABR), and MRI of her brain to make sure that she did not have any brain damage or malformations and to draw all the blood for the genetic testing.

The ABR results were completely normal, her brain looked great, but she had a Chari One Malformation.  I looked that up and dared to believe that it could be the reasons for her presentation.  I would affect numerous areas, perhaps this was my answer.   Maybe it was not Rett, "95%"!

At 24 months she was now biting her right hand and hitting her self in the neck with her left. I had a custom made brace created for her left hand that would allow her a wide rang of motion but lock just before she could reach her neck.

We implemented a rigid sensory diet for Emma.  My dad and I built a platform swing for her because I was unwilling to wait 3 months for EI to buy me one.  I also bought the SPIO suit, the Z-Vibe and half of the other things they recommended.  It's a good thing too because I still have not seen any of it as I write this almost 4 months later!

At 25 months her therapist began mentioning that she seemed more "there" than she had before.  I noticed it to, Emma was starting to make nosies again and babble a little bit as she walked around, everyone was contributing it to the sensory diet.

At 26 months, on April 26th 2013 at 2:00pm they call me at work and told me it was Rett Syndrome.  I  swear that I literally felt my heart break.  I was devastated.  My husband and the rest of the family was devastated.

But, we've picked ourselves up off the floor, dusted ourselves off and we are trying to move forward as best we can.  Some days are easier than others, my heart still hurts, a lot.

I try and comfort myself by reminding my self that she is happy and at least right now she does not know that she has Rett.  She has no comprehension or awareness of the dreams that I am morning for her.

I am going to give her the best possible life that she can have, she will be happy.  I couldn't ask for more.