Wednesday, February 23, 2011

Happy Day

As most of you know last month we went to New York in support of our friends who were appearing on The View. Here is a video from that day. Ignore the beginning where the girl in blue looks like a deer caught in headlights.

I dont know what I would do without these ladies. The are so incredible and so supportive....AND so much fun!

Tuesday, February 15, 2011


Hey all,

It has been crazy around here lately. Mostly my fault. I'm sure things could run much more smoothly if I wasn't such a nutcase.

We started Abby on the meds and I hate it. I hate that she had a few seizures, hate that I was forced to medicate her and hate the state she is in. Rett Syndrome wins again!

In my paranoia I was just sure that as soon as i put the first dose of seizure med in here she would be catatonic. Didn't happen but she is different. I am praying she adjusts.

She has been moved into my room and we are working on turning her room into an office/dressing room...I don't know who we is..damn voices in my head.

Abby's little system is handling the change poorly. She seems to be starving. Keeps telling me she is hungry through pictures and when I feed her she gags and vomits. She hasn't had a bm without help in a week. She is clingy, spaced out and wobbly.

The exhausten hit me today like a ton of bricks. After she went to school I put a load of laundry in and was going to just rest my head on the couch for a minute. I woke up 6 hours later and still feel like I could sleep for days.

I have been trying to get video or pics of her to post for you so you can see that she is OK but she is not having it. Hopefully soon.

We have been without a caregiver to help for ...I fired her sometime last week but I was lucky if she was showing up 2 days a week for the previous month. My house is a war zone, someone borrowed my carpet steamer and I cant remember who and I have stacks and piles everywhere and all I want to do is just sleep..not sure if it's the being exhausted or depression

Thank for checking in. We're trying...and she's ok


Friday, February 11, 2011


Welcome to Bummerville. If you look to your left you will see Rett Syndrome,Seizures,diapers,meds and g-tubes. If you look out the window to the right you will see examples of complete hysteria,exhaustion and little pieces of one Moms heart scattered to and fro.

What a sorry sack I am lately huh? I think that I have decided instead of a quarterly nervous breakdown I'll just do it once or twice a week for sh*** and giggles.

Unfortunately Abby's seizures have continued. They arn't bad considering what I have seen and heard of some Rett Girls going through..They are totally breaking my heart could be worse (Please God don't let it get worse)

They have been lasting 1-3 minutes and she recovers quickly. The first few completely wiped her out.

On Monday the school called me while I was doing my --screw it I'm gonna lay in bed all day and feel sorry for myself routine. Abby had just had a cluster.(one after another) She vomited towards the end of one and as they were cleaning her up she went back into it. Her Dad went and got her and brought her home. She came in the door smiling like she just got a get out of jail free card.

That day I called the Neuro's office and had quite a large cow on his nurse over the phone. On Tuesday they called with an EEG appointment followed by a Neuro appointment for Wednesday.

We stayed up pretty late. Midnight for Abby and 3 am for me. Got up just before 5 am. She of course did not have a seizure during the EEG. I however, had to close my head and turn my eyes cause it makes me nauseous.

We met with the Neuro...I tried to fight the meds. Tried to excuse away the episodes as maybe something else. Begged to wait. In defeat I finally had to give in and realize that she is having seizures and I have to help her. Burying my head in the sand, praying,crying and refusing treatment isn't going to stop her from choking to death in the middle of the night of her own vomit.

I hate that Rett Syndrome wins every battle...insert a barrage of profanity here...

Why am I so devastated? For people to say seizures are a part of Rett Syndrome is like that bunghole person that always has to make some stupid when my dad died...,"He had cancer. It's not like you didn't see this coming."

For the most part if girls with Rett are gonna have seizures it is almost always by 3-4 years of age. We had beat that by 2 years. I had found God again. I just didn't expect it. Not at all. Walking into that room that first night I felt ambushed. Like I walked in to an intruder that had ahold of my baby and kicked me in the face when I walked in the door. Now I have to live with that happening at any time. I feel trapped and held hostage..

Whole lot of I's there huh? Poor me. Imagine all that and being 6. When I was six the only thing I was worried about was ice cream cups after lunch and hoarding all the blue crayons. I could scratch my own feet. Go to the bathroom. Eat. Breath. Walk.Run.Talk.

I may be crazy...OK who am I fooling? I am crazy. I always feel like Abby is being punished for something I did. Some sin from the past that I haven't been forgiven for. For being a bad kid. A bad sister. For making fun or not helping someone. For my years between 16-22. Was I too selfish? Did I bully someone or hurt them terribly?

I sometimes...there's that I again..lay next to her at night. Spooning with her and pray to God that he will take whatever she needs to make her whole from me and give it to her. Weather it's a hormone, a gene, a protein..a thousand genes..take it from me and give it to her. I would be forever grateful to be a blob on the floor than see her have to struggle one more day.

The lack of sleep is what is making this Mom even crazier I think. Per Docs orders I have her in bed with me. I'm up and on watch if she stretches,sighs,makes a noise,turns over. That shudder thing we do after she stretches darn near gives me a heart attack.

Sunday, February 6, 2011

New friends and knowing


So months after they knew..... the baddest part of Rett Syndrome is kicking their babies butt. For me it was opposite. It was kicking her butt and I didn't know why.

They, of course, have questions about what we experienced. Was Abby like this? When did you first know something was wrong.?What could she do?

These are hard questions. Back then I was clueless for the most part. Did I know something was wrong with my daughter? Yes I did. Back then I didn't know I knew.

Confusing statement I know. Hopefully I can make sense of it here.

Abby was over due and was born over 9 pounds face up with an apgar of 9. I questioned why she didn't cry when she was born and they told me she was worn out. I questioned the score and they told me she was pink,breathing and responsive.

I will tell you this is the second time today I have written this. The first time I went into every detail and it ended up being a novel so I will try to condense it.

We knew we had the happiest baby ever. Everyone said so.

We knew she turned over and held her head up a few days after being home from the hospital.

We watched videos of her brother at 2 months old not being able to do stuff or be as aware as she was at a week old..2 weeks..2 months. She always seemed ahead of him in age comparison videos.

We knew that he were invited to be in a video promoting the services of the clinic she went to and everyone commented how awesome she was.

We knew...

She said her first word at 5 months and could say words in both our languages by 6 months.
She played pretend

She always had a toy in each hand

She fed herself at 6 months

She was so full of life and personality she had personal Abbyisms for different people.

She was Audra's booby snuggler

She was Mae Maes Princess

She was Bubba's wrestling Buddy

She loved to attack and bite her Nee Nee and her Billy

She shared her toys with adults and bit babies. She was a brat

She was a flirt

She loved heavy metal music and would turn the 5 disc cd player to Metallica. No matter how many times we put in other cd's she would search for them and boogie down. My Lil Rocker.

She loved to dance

She was a Daddy's girl

She was Mommy's everything

The signs....

She never cried..never..not unless she hit her face directly on something..After having a kid with colic before we were very grateful

She tremored when you woke her up. The docs called it a startle reflex

She seemed to be spoiled and lazy...I did breast feed her for 17 months. Every one decided it was my fault because I held her too much.

She had no desire to hang on. Like I couldn't put her on my hip. I know now it was floppiness and low tone. Back then I really had not idea.

She stopped sleeping at night. Nights were the worst. She would scream and scream. The answer? Spoiled. My fault. Need to make her a schedule. Spoiled brat.

She woke up one day rubbing and twisting her fingers. We thought they itched. Later that day after she looked blankly at her Cheerios and juice for 3 hours I called and asked her Dad if he had dropped her or if she had fallen off the bed and he hadn't told me.

After a few days of blankness we realized she was almost completely silent. Except for the screaming. There was no more babbling.

We took her in...They said I was crazy. We switched doctors. When I started to recount things he told me she was fine and that I had Munchhausen's Syndrome.

I flipped and they agreed to tests. Another doctor said CP or stroke. They did an MRI and ordered genetic testing. We did the MRI and it was normal. We refused the genetic testing.

Why did we refuse? Because we were scared. We didn't know what they were going to tell us and they didn't know what they were looking for.

They came back with a best guess PDD and a suggestion that I seek some Mental Illness counseling.

The rest of the story I have told a million times and am too exhausted to completely recount here again. Eventually I found it in a book. Took her to her current doc and he nailed it immediately. First tests were negative..whew sigh of relief. Backup test was came to an end.

Was she like this?? Yes Stef she was. We just didn't know why. The only difference I can see is that you had your answers before regression. Her regression caused our search for answers.

I'm here sweetie. Whenever you need me

Saturday, February 5, 2011

New friends

Hi all.

I made some New friends in December. The are currently dealing with Rett Syndrome at it's worst.

To say that my heart aches for does. It makes me remember why I stopped reaching out to new families. It's not that I didn't care there for a while. It's that I care too much.

When I unsubscribed from Rettnet it was after reading an open letter from a father. He was pleading with the members(who had just went through the merger of 2 Rett Syndrome charities to stop fighting.) It was ugly. Rettnet had gone from this place where people could go for online support. For that advice no one else has...Most of us are told when our daughters are diagnosed to get online and find other families.

He was furious with the taunting,the hostility and talked of meeting a new father that weekend. His words had me in a ball on the floor. I rarely posted but I read everything. I too had wondered what had happened and why. I agreed with his words that no new family should come there in the state it was in. He talked about standing on a golf course listening to a new father describe his families journey and the pain they were in. I knew nothing of them but I still cried. I cried at the pain I knew they were feeling and the pain we all relive every time we meet a new family. I decided right then and there that I was just going to stop caring. Focus on my own child..this hurts too much Id tell myself. I didn't reach out to a new family after that. Even if they contacted me. I would kindly answer their questions but I did not want to be any ones shoulder to cry on anymore. It was killing me. I kept in contact with the Rett family and friends I already had but newbies...nope not me thank you.

Over the summer I got more involved in the Rett Syndrome world. Running a website and talking to people. In late summer Rett syndrome started kicking Abby's butt again. Crazy GI issues, tremors,panic attacks and severe gut pain. Long story short we ended up going to New York to the best Rett doc ever....Don't get offended Rett docs. Ive only met 2 but I think she's pretty awesome.

Our trip there is what led me to this family. I had heard of them. I had read their blog a time or two. We had even commented and common friends posts of FB. This family took us in during our trip to save us costs and to have a friendly face in a scary place.

That first night I knew I had made lifelong friends. I don't connect easily. I have a back off kind of attitude and my sense of humor is rude and tasteless. I purposefully keep everyone at arms length. Always have. Even before Rett hit. That's just me. I'm not a hugger or a snuggler. To the delight of many people I know...I'm a favorite target for an ambush group hug...yuk

The second night I was there..after all the appointments you would have thought I came back to home. Dinner waiting. Helped me unwind from the day and gave my daughter a bath for me. Sat up late talking. Stories, how to's, tears and laughter.

I don't know that there has been two days in a row since we haven't talked or emailed since. I had the great honor of being in the audience when this same family went to THE VIEW and spread awareness to the world. I carried their daughter off stage when she got fussy and sang to her in the hall while they completed the interview.

Their daughter is in the throws of regression. It is very hard for everyone. Those of us that have been there ache for this family. I laid awake with the parents all night long while she tossed and turned and screamed and whimpered. I took turns trying to calm her the next day as she tried to crawl out of her own skin and pleaded with those beautiful eyes. Man do I remember the screaming and the pleading. I can remember being so frustrated and angry and hurt that I wanted to die.

This family got their diagnosis like some do before the bad regression hits. This girl was a preemie so they did extra checks. As soon as she accomplished something it was gone and they knew something was up long before I did with Abby. They say that they were just gonna check. They knew there was an issue. The doctors decided to start with the worst of the worst and work their way down. They soon found out their baby had Rett Syndrome......

to be continued....

Dear Diary Blog

Weird title. huh?

No not really. People that keep up with this blog know that I am all over the place with this space.

It has become my Dear Diary. My someone to talk to.

It started as a way for family overseas in Europe to be able to keep up...hoping they could find a translator and letting them share pictures without me actually having to have them developed and mailed. Technology has made me a very lazy individual.

It turned into a place for me to vent,inform new parents and advocate for Rett Syndrome.

Through this blog I can say things on my mind that the people in my life wont take a minute to listen to.

Strange that I have people on almost every continent that check in here daily. People from England,South Africa,New Zealand and Australia check in here almost daily. I sometimes wonder if I disappoint them when it's just me bitching and crying about the same ole thing over and over.

I say that because I have had 4 parents..each from a different continent take the time to personally email me about Abby this week. To just check on her and offer seizure advice.

I said back in August when my son turned 18 that I would no longer suffer or wonder why my family does not seem to care. I called them each on Monday to tell them of her seizure. I have not heard from any of them since. Not one phone call. Not one email. One sibling lives a mile away. My Mom lives 9 miles away.

When my son had his first seizure my parents and siblings arrived at the hospital half dressed in the middle of the night. The stood vigil with me for weeks. My son is normal. He just had fever seizures.

Every time my son fell off a bike or had to get a stitch they were all there. I don't even call anymore when Abby is in the ER or the Hospital. The last time I did...I cant even recall at this point why we were going but we were rushing her to the ER Mom said, " OK Take care."

So... Thank you to my readers. You have become my calm in the storm. My silent friends. That family member to just hold my hand while my heart is breaking.

In this life I have to be the tough guy. The one that takes care of everything and everyone. In this house and through the families I counsel all over the country.

It helps me tremendously to have a place to go and let it out

Wednesday, February 2, 2011

Abby update.

Hey all.

Still not exactly sure what is going on and my head is spinning. I am so worked up my muscles are aching and my head is pounding.

Called the Neuro to tell him of the seizure the next am and he put her on a med without even seeing her. I protested and he gave me the due to her having Rett Syndrome speech then said Thank you Maam and was gone.

I haven't gone and picked up the med. First because I don't want to and second because our town is under a weather emergency and it is impossible to get out. My husband was stuck at his job for 3 days.

Yesterday she seemed fine but a little wobbly. Last night when I was bathing her she started to retch and vomit. After I got her out of the tub she was very anxious and lethargic. She clung to me and I had to cradle her tight against me. If I let up on my grip at all she would start to cry.

When we went to bed she started to retch and throw up 5 minutes into her feed. Even though she gets half of her days nutrition and hydration at night I decided to turn off the feed in hopes it would stop the vomiting. It did.

Abby sleeps with her arms crossed across her chest. I slipped my hand under her arms so I could feel her breath or feel her if she started to shake. Her grip was very tight.

At this point I don't know if she had the seizure because she was getting ill or if the illness is the after effects of having the seizure. I tried to call 2 of her doctors today to demand she be seen and we discuss all possibilities and side effects but both offices were closed due to weather.

I am hoping to be able to get her in tomorrow or at least before the weekend. I just cant start her on an every day epilepsy med over one seizure. I am very well aware that seizures are a part of Rett Syndrome but most girls have them by 3 or 4 and she is 6. I have had numerous parents tell me that their daughters don't have seizures unless they have the flu or a fever. Several have also reported only one ever. I just think we should wait,have an emergency med on hand and see what happens.

I am concerned about the extreme nausea and anxiety that she gets when she is nauseous. I would think there is something we could give her for those times besides benedryl...which hasn't been working.

Any advice would be appreciated.