Monday, September 24, 2012

Rett Syndrome Episodes. Finally some answers for Abby

This past week we got a last minute call from the Children's hospital to get Abby in for a 48 hour EEG the next am. She was a trooper when they started.

Getting a little annoyed at this point. Poor baby

8 pullouts of her cap,bandages,and wires we had to quadruple wrap her.
After the hour long smelly removal of the wires. She was done.

So, I have thought for days how I would word this blog. I want to be very considerate to other families living with Rett Syndrome. Although we experience many many of the same things,Rett Syndrome is not the same for everyone and neither is the outcome. So please take no offense because it is not my intention. We got the answers we needed for our Abby and I feel good about it and wanted to share what we found out with you.

Abby suffers from what is referred to as Parkinsonian Tremors and Rett Episodes and what we thought were seizures. Daily.

When she wakes up in the morning she goes rigid and shakes. Her body trembles like she is being electrocuted. She looks confused and her eyes will open and close and roll. This usually lasts several minutes.

When Abby wakes up in school or on the bus the same thing happens except it is slightly different. She looks terrified. Her eyes dart back and forth and the tremors seem to come in bursts which have been misinterpreted as cluster seizures.Sometimes she will wake up shaking and burst into maniacal laughter.

When Abby is startled awake at night, either by a cough or a door slam or a noise her little body completely locks up. Legs go straight. Arms cross and lock to her chest. She hyperventilates and shakes and sometimes cries out.

Abby had 3 different of the above episodes while hooked up and on video. Each episode was also witnessed by at least 2 nurses and the middle one was physically witnessed by the Neurologist.

The Neurologist came in in mid morning and told me he had good news. Abby wasn't having seizures. She was having tremors and Rettpisodes as they call them. As a Rett parent I have always felt that was a cop out for,"We don't have a clue."

Before I could launch into him he calmly leaned up against the wall and asked me to hear him out. We talked for a while and this is the theory we...mostly him have come up with. This is my interpretation of the conversation.

Dr-MECP2 is the gene that makes the protein that makes your Neurons fire correct?


Dr-When our girls are asleep it almost seems as if they don't have Rett Syndrome. Everything is at rest. No breath holding, no hand wringing,head banging,repetitive movements. Correct?


Dr-OK look at it like this. When the brain starts up or wakes up its like a spark plug firing or like a motorcycle being kickstarted and everything turns on kind of all at once. Are you following me?

Me-Light bulb going on over my head...Yes

Dr-Her brain doesn't work like ours. We wake up kinda drowsy. We blink and stretch. They are getting brain fires all at once neurons trying to fire, criss crossing,some hitting, most not. This is what makes the tremors happen. This is how the muscles and body reacts. Does this make sense?

Me- Yes. But she also shakes when she is excited, happy,upset,hurt,startled,anxious.

Dr- Do you suppose that your normal brain may fire differently when you are excited, happy,upset,hurt,startled,anxious?

Me-Oh my God.

Dr-All of those things. All those emotions, situations make her brain fire differently also. It just manifests itself differently than it does in us. It affects her differently because her brain and her body work differently. That's why we also refer to it as a movement disorder. Her brain can't get her body to work in the way she wants it to. IE-Tremors and Rett Episodes.

Me-Looking at her bursting into tears.

Me- I get it. I get it.

Dr- We are not going to say she has never had a seizure or she never will but she isn't with what we are seeing here. I hope this gives you some comfort and understanding. Her brain is intact. Her Neurons are not firing to her body, her muscles correctly. That is  tremor. That is a Rett episode.

I felt I needed to share it for those of you who have kids with Rett dealing with the same thing. I know that there are many many kiddos more worse off than my Abby. If only to help educate those dealing with our situation. He explained it in a way no one ever has before and now I get it. I get what is happening to my girl. Finally.

Thanks for reading

Terri and Abby

Thursday, September 6, 2012

With all my love. Thank you Anna.


Above is my friend Anna. Anna was 4 years old and lost her battle with Rett Syndrome early yesterday morning.

I have been in this world of Rett Syndrome for 6 years now. A world so hard to explain. When we were told Abby had Rett Syndrome in that tiny room. When we were screaming and crying,"What do we do?" The only two things they said to us were,"Find other families. Much is not known but what we do know is with this disorder there is a family waiting for you that can tell you and guide you more than we ever can." The other I wont say now.

Boy were they right. By the end of that very first day I had a local Mom on the phone with me. The next 3 days the President of a Rett Syndrome Organization was crying with me on the phone and telling me things doctors still don't know. Things I have to teach doctors.

The Gutierrez family is such a family...the family they were talking about that day. Even though it would be several years before I met them.

Rett Syndrome families almost all know each other. We welcome the newbies in...into this family no one would ever want to be in with compassion and understanding that can never be taught. It unfortunately has to be lived. We understand that heartbreak. The fears. The what ifs and the struggles like no one else can.

Most people are fixers. Git er done. With Rett Syndrome we know we can't fix it. It's one of the things that hurts us the most. There is no magic button, pill or therapy that will fix our babies. The one thing we can do is help and teach other families that are going through what we have been through. The questions, the feelings, the support. I can't say that I have ever not taken a phone call from a Rett Parent. Not in 6 years. There has never been a time where I have reached out to another family that they haven't done everything they could to help me. Whether it be a shoulder to cry on or a medical question. Not once.

In October of 2010 a fellow Rett Mom offered to help me get Abby into a specialty clinic in New York. Abby was having issues that doctors here couldnt figure out. Issues that were totally Rett related. We needed a Specialist.

She called Stefanie. Anna's Mama. We emailed back and forth and made arrangements. This family took Abby and I into their home...sight unseen so we would have somewhere to stay in a scary place all alone. They put food in our bellies and we fell in love with them instantly. In fact Stefanie and I were laughing in total hysterics on the way home from the airport...after a near mugging on my part. Thelma and Louise we called ourselves.

At the time Anna was in the throws of Regression. We spent those days between hospital visits and back to the airport laughing, learning and teaching each other. She fell in love with Abby and I with Anna and her son Gabe immediately. Living my life I was in awe of her family. The bond. Her marriage. Her husband. Such love and support for each other. There is no way to explain it without spending time with them.

We kept in touch. Daily. We sent items back and forth. Not a day went by. Then this family..these amazing people got Rett Syndrome national attention. Something we all have tried to do. Over and over. I cant tell you how many letters I've written to politicians and celebrities and they got an interview on The View. They introduced Anna and Rett Syndrome to the World. People cared. When I would say Rett Syndrome they would now know what it was because of them and because of Anna and for that I am eternally grateful. They did it like they do everything. They did it with grace,faith and love.

The day I got back from the taping of The View my own daughter had her first seizure. I was broken hearted. I thought we had passed the point where that was a possibility. That night there was a knock on my door. It was a delivery man. I opened the door and he said,"Dinner from Stefanie in New York." and handed me a couple of boxes. I smile as I think about that. What an incredibly thoughtful thing to do.

People in the Rett Syndrome community are hurting right now. Possibly like never before. I in no means want to say that every death doesn't affect us because it does. I have sent countless cards and plants and flowers to families at this time. I've cried myself to sleep nearly every time. When you wake up every morning praying to God that you will hear your child breathing you know the pain and the possibility that at any time it can be your turn. At any time this Rett Monster can decide to take your child. With a seizure,aspiration,autonomic dysfunction or sudden death. We all live with that every day and still have to learn to get up and deal. Day in and day out. With Anna EVERYONE felt like they knew her. She was the one. This family was the one that got us known. That got us heard. I have often said it's like living in a glass box screaming to anyone that will listen and they all just keep walking by. That day people stopped. They listened. They heard.

I don't know that I can express what I am feeling. I am definitely hurting. In 6 years I have experienced many Rett Syndrome losses. But never a child I've held in my arms or a family I personally knew and care for so deeply. I am in agony for the woman who called and comforted me yesterday. Yes...She comforted me. I feel guilty that I am still able to kiss my own child goodnight. And if I said that to her she would kick my ass for it. Absolutely the strongest woman I know.

There is a new found feeling for me through this. Like nothing else matters. I am a crybaby and a bitcher. A poor me kind of person. I didn't used to be but Rett Syndrome has done that to me. I whine and complain about my lifestyle. My vehicle. My lack of funds. I cry to myself to sleep over all the what could have beens and the go withouts. That stopped the moment I opened my eyes yesterday and learned that sweet Anna was gone. I have my child and I am grateful. I will gratefully carry her up the stairs with a bad back. I will gratefully carry her anywhere she ever needs to go from every moment from now on. I will remember to thank the Lord that I have any roof over my head and any way to get where I need to go.

Stefanie, Manny and Gabe. Thank you for everything. Thank you for your friendship, your love, your example and for sharing your Anna with us. I loved you from the moment we met and you have made me a better person. I wish nothing but the best for you always and never ever want to lose our friendship. Anna is here. She is just no longer trapped and hurting. She is free. She is loved and she is watching. Dancing in her pretty dresses for Jesus.

I would have loved you all without Rett Syndrome. You are my heart. God bless you.