My Daddy & Me.

When they least expected it, I gave my entire family the Angels of 2008 Calendar. They all loved them! xoxo

More Christmas video..

Great Grandpa helped me get my new Minnie Mouse out of the box. Isn't he just wonderful? :-) As you can see it was pretty hectic at grandma's that night. Lots of people talking and moving about. Me, I was content to just sit there opening my gifts and taking it all in. I was an absolute angel all evening!

What a wonderful Christmas! :-)

Gee whiz! Santa was too good to me and Tori...we got so many wonderful gifts. I got many sensory toys from family members, baby dolls galore, daddy got me a princess inflatable bed (I love it) to play in, symphony tubby toys, v-tech wizard and v-tech story books and a new battery operated toothbrush too! I like brushing my teeth much better now! Hee-hee.

I am trying to share a short video of me opening my cabbage patch doll so wish me luck. Grandma got a flip video camcorder but she is not real sure she what she is doing. Guess she is not as technological as she thought she was. That's okay, I love her all the more for trying to share me with all of you on video.

Check out my dress too...Tori and I really looked special for Christmas. And all weekend long family and friends kept telling Daddy how well behaved we were. I think it is because I sleep better and have so much freedom to just be me. Gotta love that. I know I do. Oh yeah, pay attention and you will see my big sister Tori and my cousin Olivia too in this short video. We all got cabbage patch dolls from Uncle Jimmy and Aunt Rushie!

Merry Christmas to all the angel families.

May you all have the Merriest of Christmas's this year, surrounded by lots of loved ones and friends.

Tori and I are officially counting down the hours till Santa arrives at our house. We have our cookies and milk ready to put out for Santa and we are going to leave a carrot for Rudoloph too!

I bet I will be the first one up as usual, but something tells me my big sister Tori won't be far behind. (Hee-hee) Then things will start unravel around our tree. I am getting so excited, aren't you?

Here's hoping all my angel friends get everything they asked Santa for this year. xo

Christmas has begun for me and Tori. :-)

Just a quick note to tell everybody that Christmas has begun for us! Yippee! We began visiting family today and I got all kinds of fun stuff. A baby doll that lights up and toys that make lots of noise. Tori of course got lots of my little pony stuff which made her very happy. Daddy is still shaking his head wondering where he is going to put all our new toys? Especially mine since he limits how many are accessible at night time for my safety and so as not to allow me to play all night long. I do need my sleep time too.... at least that is what he tells me. Well off to bed as I get to rest tomorrow before the presents start pouring in again. :-)

UPDATE...I am an Angel...but not deletion +. I am UBE3A.

Well folks, big update. I am not deletion +, but actually UBE3A. Poor daddy was so overwhelmed with the genetic specialists phone call at work yesterday that he got a wee bit confused. But he has it all straight now as I was sick yesterday afternoon and had to visit my pediatrician today.

While the pediatrician was making sure I did not have an infection because of my high fever last evening Daddy asked her for a copy of my results from the specialist to read. When we got home he shared it with grandma and my big sister Tori and that is when we found out that I am UBE3A. Oh well, all that matters is it is confirmed once and for all and life can go on as usual.

Anyway to stay on track, it turns out that there is a bug going around the county we live in and it causes high fevers. The good side is it only lasts about 24 hours so I am through the rough patch now and doing just fine. As a matter of fact, I am starting to feel like my old self again. :-)

Daddy took really good care of me last night. He gave me cool tubby, some pear juice and my tylenol. Grandma rocked me for a bit then laid down with me and rubbed my forehead till I went off to sleep. I slept for over 9 hours! Can you believe that? I mean I know my sleep has been really good the past few weeks but 9 hours is a bit much for even me!

Now I am wondering what I missed out on last night? :-(

Daddy stayed home from work today with me. I even took a morning nap after a wee bit of breakfast. Yes, your reading correctly, a morning nap! The little girl who never naps took one this morning. But not to fret as I am feeling more like myself right now and I am thinking about getting into a little mischief. Gotta keep daddy on his toes now don't I?

I sure hope he got some rest last night just in case I decide to pull an all-nighter. You know we angels are really good at the all-nighter's and I cannot have one without inviting my daddy to join me.

Wishing you all good health tonight....xo

Diagnosis is in, I AM AN ANGEL!

Hi everyone. Just a quick note to let you all know Daddy received the phone call today and I AM AN ANGEL!

If daddy understood what the doctor tried to explain, I am deletion +. He was a bit taken back by the phone call at work today but that is how he recalls the genetic specialist explaining things to him. I guess paperwork is coming in the mail too just to confirm everything in writing.

So no more "clinical" after my name......I am the real deal. xoxoxo

Guess what Tori & Grandma did?

Tori & Grandma made an "angel proofed" tree this year! Yip, its all stuffed snowman heads so I can't get hurt playing with them. No hooks to fret about either. Tori was so pleased with herself. And at my house she made Daddy put an angel on top our tree in celebration of Angelman Syndrome and me. Is she not the coolest big sister?

I am gonna have daddy get a picture of our tree to grandma so you can see it too. Oh yeah, daddy took us to see the Christmas light display at the fairgrounds last night. Wow! I did not know there could be so many lights in one place. I think all those lights hypnotized us as we both fell asleep on the drive home and poor daddy had to carry both of us into the house last night and tuck us in. I can't believe I missed my tubby-time! That NEVER happened before. I guess there is a first time for everything isn't there? Sweet dreams....

Well another week has come and gone. My how time flys when I am having fun. Did you hear, I have been sleeping all night? Yip! My daddy awoke to his alarm clock for the very first time since I was born. He said he heard it go off and ran down the hall to my room to make sure I was alright and found me still sleeping. Then he had to wake me up for daycare! :-)

First they say I don't sleep enough, then when I do they go and wake me up. Silly grown ups...do they know what they really want from we angels? Grandma taught Tori and I to play ring-around-the-rosie this week. And I got it. I know how to drop to my knees at the perfect point when she sings ashes, ashes, we all fall down! I just loved the look on all their faces when I did that. Hee-hee.

Oh yeah, got to put in a plug for my big sister. She got her kindergarten report card and got really good marks daddy said. The teacher says she is bright and doing very well in school. I already knew she was smart as she looks out for me. She always tells daddy if I want a cookie or a drink. I really like that part about big sisters. We don't have to say a word, they take care of getting the goodies for us.

Jennifer sent Grandma and Daddy some ideas to help with my constipation problems and I am getting much better. Who would have known canned pears would be so good and work so well at relieving my problems? And...........I get to drink the juice (watered down of course) afterwards. I gotta admit, grown-ups are smart aren't they?

Well grandma is coming over tomorrow morning early to sit with us for a bit so daddy can go to work. Its is 1/2 workday this Saturday. I better get to bed, as she will be expecting me to greet her early.

Angel hugs and sloppy kisses to all,

Miss Emma

Guess what all I did Saturday?

Hi everybody! Well its been a rough week so Daddy & Grandma decided we were all due for a fun day out. They took both of us to the hair salon for new "hairdo's" and we both got pampered and then went for pictures. Take a look! We are a couple of cutie pies...at least according to everyone watching our photo shoot.

We did a wee bit of shopping as Tori needed candy canes and silly socks for school and added a new little pony to her huge collection. Grandma got me a new winter coat, a few noisy toys to play with and new shoes. My feet just keep growing.. Hee-Hee. When we finished the to-do list Papa met us all for lunch! I was so surprised and excited. Oh yeah, I went for more lab work yesterday afternoon. Daddy held my arm and they poked me again. Three more tubes worth and I never shed a tear, just giggled! Hopefully this new set of tests will finally explain what type of Angel I am. It will be nice to know which category I fall into. I will let everyone know know as soon as Daddy tells me the results. Promise.....

Angel hugs and sweet dreams to all,

Miss Emma

Great News!

Daddy got a letter approving further testing for me to try to confirm my clinical diagnosis! I am going Friday. Maybe we will once and for all get the answers we have been waiting for. And a wee bit of help for my daddy with the extra little things I need day to day once my diagnosis is confirmed.
I know I am an angel and so does my family. But sometimes in life we just have to walk that extra mile to prove things to others. Wish me angel luck....

Peaceful sleep and sweet dreams to all the other angels tonight. XO

Well, they almost goofed today!

Grandma and Uncle Jimmy tried to add music to my blog page and in the process Grandma got the bright idea to change my template too. Bad move!!! They lost over half my posts and pictures and we never thought we would find the original again. Luckily she found it tonight (or should I say this morning?) and we are back on track. ."
Too funny how adults always come up with such silly ideas, isn't it? Sometimes its just best to laugh to myself at what they can get into. And they all worry about me getting in to trouble? Hmmm...I think I will remind them of tonight the next time I hear "no-no Emma

P.S. Sending a special "thank you" to Steph & Brady for sharing their blog page song with me, as grandma never did figure out how to include one on her own. Angel hugs and sloppy kisses to you both!

Happy Thanksgiving to all the Angels & their families.

Today is turkey day and I am going to my great grandparents house! See daddy has a grandma too just like me and Tori. I will visit and play with my cousins for a bit, then I have to visit mommy for a few hours too for the holiday. Just want to wish everyone a happy and safe holiday from me to you. Angel hugs to all.

Yipee!

Just a quick note to keep everyone up to date. Grandma joined the Angelman Syndrome Foundation after joining the listserv a few months ago! Wow, what great things were inside that packet for daddy and me. She also got a bit crazy and ordered 20 of the new 2008 Angel Calendars from Erin & Rob, Maggie's parents. I hope my family loves them as much as she does cause I think they are all getting one. Hee-hee.

Maggie's parents really put a lot of work into that calendar....did you see it yet? If you haven't checked it out you really do need to. Just go to Maggie's website and look for the calendar link. It's easy...

Hope everyone has a Happy Thanksgiving and spends it with their loved ones. That's what I am planning on doing.

Another week in my life....

Well it wasn't an exciting week but you know me I make the most out of life. Been battling a cold this week and the usual constipation problem. Makes for tough sleeping when I don't feel good, but I am not complaining. I appear to be luckier then most angels as I am still seizure free for now unlike many of my other angel friends. Daddy spoke to the genetic specialist and I guess my first set of tests came back normal? So I am going to have to have more done to see if I have any deletions. (Whatever that means?)

Three specialists said I have AS back in July, but since it is only a clinical diagnosis they cannot seem to get any assistance for me medically to help with my doctor bills until I get a "true blue" positive result? We all know what that means.........more pokes to get more blood from me for testing. I do not like being poked but daddy says he will take me to this visit like before so I am in good hands. I guess I have to go see my orthopedic doctor too. Doctors and more doctors it seems. I guess all angels see lots of them from time to time so I will cooperate. But I don't have to like it, right?

I would much rather be playing with my sister Tori and getting in to mischief. Its fun to hear no-no & hands down. Those are two of daddy's favorite things to say to me next to "I love you M & M." Hee-hee.

Well off to bed I go. I hope this finds all my angel friends across the world healthy and happy. Angel hugs and sloppy kisses to everyone!

Happy 4th Birthday to my cousin Olivia!

Saturday I went to my cousin Olivia's birthday party with Daddy and my big sister Tori. I was a bit taken by so many people in one house. Who would have ever thought so many would fit in one place as they did that day that day.

I saw Grandma and Papa, my Great Grandpa and Great Grandma, aunts and uncles and lots of family and friends. My newest cousin Abigail was there of course and being her sweet little self. She is such a good baby. I just kept staring at her in the pack and play as she napped during all that chaos. Boy, I would never have done that. I like being in the thick of things when there are people about and noise to be made. But then again, don't all angels? Hee-hee.

I will have to post a picture or two when grandma shares them with me so you can see Olivia's cake. It was an ice cream cake and I ate some. Daddy was so proud of me as I have never been big on cold things till recently....but I sure liked that cake!

Well off to bed for me before daddy catches me on his computer again. Angel dreams to all...xo

Weekend with daddy all to myself...

Well Tori went to grandma and papa's house this weekend so I had daddy all to myself. Boy did we have fun. Daddy and I went out to breakfast at Bakers Square, then shopping. Daddy said I was such a good girl in the restaurant. I love going out to eat in case you did not know that. I love watching all the people and smiling at everyone. Its all most as much fun as eating! I am waiting for daddy to give grandma a picture of me in my Halloween costume to share with you. I was an angel this year to celebrate my finally being diagnosed correctly after all this time. At least that is what daddy and grandma told me. I looked so cute! My big sister and cousin Olivia were princesses. Funny how they both picked out the same costumes isn't it? I guess great minds think alike. Me, I just like doing my own thing like all my other angel friends. That is what makes us so special so my daddy keeps telling. Hee-hee. I think he just is prejudice when it comes to me and my sister. I guess most daddy's are............

Well I am going to go to bed before daddy finds out I am still up and messing around. I will try to get my Halloween picture on here soon. Angel hugs and sweet dreams to all.

Shared by Jennifer Fiander..regarding well-known Actor Colin Farrell's son James also has Angelman Sydrome.

Just announced: Well-known Actor Colin Farrell's son also has Angelman Syndrome
Yesterday I was forwarded an article that announced that Colin Farrell has a son with Angelman Syndrome, the same disorder my son has. Wow. Finally someone well-known that maybe can shed some light on AS.
I belong to an AS listserv. I don't go on it very often now, because I rarely have time with the kids and with my business. But I went onto the listserv to check the reaction of everyone to this story.
It’s funny, all of the parents who were on the AS listserv always wished there was someone famous who was affected by AS, so that there would be more awareness of it. So, with the news being released yesterday about Colin Farrell, our combined initial reaction of course was- wow! Some people were openly ‘excited’ by this news. Not that we wish for people to have children with special needs, but we have all become sort of a ‘family’ on the listserv, so we gladly welcome any newcomers. And the majority of us also know how much having a child with special needs enriches our lives, so we don't 'feel sorry' for those in the same situation as us. And the article was a positive one, talking about how Colin feels blessed by his son, and how he – even though the boy’s mother and he are no longer together- is still a very present and hands-on dad. A few people on the listserv were working at contacting him through different methods, and there was a LOT of talk going on about how it was going to bring awareness, etc.
As I was trying to go to sleep, I couldn’t get this situation out of my head. All of the greatness of having a celebrity attached to AS didn't make sense anymore- the fog in my brain had cleared. What did we all want- a spokesperson for Angelman Syndrome? Wow, we were naïve… He and his ex don’t need the responsibility of feeling like they have to do that sort of thing just because they are a celebrity. And the idea that he is a celebrity going through the diagnosis, dealing with the things that we all deal with when our kids are young- how we feel, how we feel about others’ perceptions… I wonder if he felt forced to release the article. Was there really any other way? Would they just continue to live their lives as ‘normal’ and get chased by photographers on a daily basis and read write-ups in the enquirer or whatever saying ‘What is wrong with Colin Farrell’s son?” . Dealing with your feelings of having a special needs child in those young years or any years are very private. I can’t imagine not being able to live those moments quietly.
Of course, once the hype settled on the listserv, many of us realized that we can welcome Mr. Farrell and his son’s mom to the list, and to give them the support that they need (even if they join anonymously), without invading their privacy or being pushy. Even celebrities need support for these things.
Still, I did forward the article on to family and friends who I thought might be interested. And it is nice to see “Angelman Syndrome” out there for the world to find out about.
And a friend of mine who does NOT have any special needs children, but is still a very wise woman responded to my email with this:
It's just too bad that it requires a celebrity to bring awareness to it. After all, does it really have the same implications for someone who can afford all of the help, medical care and specialty equipment that money can buy?
Wow, that is powerful. And true. But at the same time, I’m happy for little James that he was lucky enough to be born to two loving parents who DO have the money to care for him. However, with most of us, it is not the case.
I love (sarcasm) how they always say “SUFFERS from Angelman Syndrome” . So many AS people live healthy and happy lives. I hardly call being happy everyday ‘suffering’.People’s perceptions have to change.

My story as I know it.......

I was born in 2003 and my family says it was a difficult situation, but does not wish to get into too many details with me so I will tell you what I know so far. I spent the first week following my birth in NICU and Akron Children's Hospital where they took exceptional care of me. Then off to home I went to be with my family.

Grandma still speaks of how tiny and fragile I was. Not sure I know what fragile means but she used that word often. I found it difficult to suck my bottle and daddy and mommy bought a lot of different nipples till they found one that worked for me. I understand I had reflux too and spent a great deal of time spitting up and had to take medication to help with this. Good news, I out grew that problem within a year or so. Now I eat everything! I love food of all kinds. Fruits, veggies, puddings, applesauce and COOKIES! My sister Tori calls me the cookie monster. Silly, sister.

From what I have been told, I was not doing much in the way of progressing the first year. Not crawling, sitting on my own and kept my body in a very stiff mode all the time. The doctors kept telling mommy and daddy that I was just delayed but nothing to fret about. All would come in time. But....my grandma did not like that excuse. She wanted more answers. Answers that simply were not coming.

So......grandma talked mommy into allowing me to go to physical therapy if she could work it out at the hospital where she works. Well as you may have already guessed, Grandma DID get it all worked out. I started going to PT shortly after my 1st birthday in 2004. That is where I met Christi and Karla, my personal trainers-therapists. They were so nice to me but they really worked me hard. Before I knew it I found out I could bend at my knees, my arms and at my waist. Funny how I did not figure that out on my own, isn't it? Boy did everyone enjoy seeing my new tricks. After my workout, Grandma always rewarded me by taking us to lunch in the hospital cafeteria. The hospital staff there were so nice. They use to come over to see me during my lunch visits. In turn I would smile and laugh with them and eat up all the comments like; "how cute she is" and "does she ever have a bad day?" I guess I must have smiled a lot? I did not know you weren't suppose to smile so much. For me it just comes natural. :-)

Well, on with my story....At the age of 2 the doctors told my parents I had a mild case of Cerebral Palsy and that was why I was not walking, talking and progressing as I should. Bethany from Help Me Grow got involved and by the time I turned 3 years of age I was off to preschool at the local school for special kids. I LOVE IT THERE! More therapies, PT, OT and Speech. And kids to play with too! I even have my own desk and classroom.

In the Spring of 2007, Dr. Manes the school administrator told my parents she thought I may have characteristics of Angelman Syndrome? Apparently she has seen a few others like me. Well, let me tell you that shook my family up, big time. Daddy called grandma and tried to tell her what he was told at my school visit but he simply could not remember more than that it was "Angel-Something" and they suggested I see the specialists at Akron Children's Hospital again. Well it took awhile to get the appointment but we did. And Daddy took me to see three doctors in one day. Of course they poked at me and took some blood, made me cry for a few minutes but I was tough. I made Daddy proud as usual.

That evening Daddy called grandma and told her that all three doctors came to the conclusion I have Clinical Angelman Syndrome, regardless of the blood test results. No one in my family had ever heard of it so my grandma started researching Angelman Syndrome on the internet. Turns out its a rare genetic disorder that I was born with. I knew I was special but wow how exciting to find out I AM AN ANGEL. Pretty cool don't you think? All this news came right after my 4th birthday. The doctors told Daddy to put away my walker, take off that silly brace and let me be me. That I would walk in my own fashion and that was just fine. Silly people, I knew I did not need that contraption but went along with the flow to keep everyone else happy.

Within 2 weeks of my walker disappearing I was off and walking all by myself. I had to let everyone wait a wee bit. Why show off all at once? I have now been walking by myself since late July, early August. (Thank goodness as my knee's were really taking a beating with all that crawling to get around). And if I must say so myself, I am becoming quite of pro with this walking gig. I can reach so many more things that I am not suppose to. Hee-Hee! I can even turn light switches on and off. Daddy loves that trick.

Grandma says my "gait" has narrowed considerably over the past few months and I am looking good. I have also been practicing using sippy cups and eating utensils. I never saw so many different cups in my life. Grandma buys a new one every few days trying to get me to use it. I tease her a bit and cooperate but gee, I really like that bedtime bottle. As for the eating tasks. Well someone on the Angelman Syndrome's Forum told grandma about "scoop bowls" and where to find them. They are really neat and I have a new fork and spoon too. I am doing much better now with these. I am not perfect with them but boy can I scoop up my applesauce and oatmeal.

Did I mention that my grandma joined the AS Forum and chats with lots of angel families all over the world? She is learning more and more about me and all the other angels everyday. New ways to help me with my difficulties and searching for ideas on how I can best communicate back to others. That seems to be the hard part for we angels. I guess God did not think we needed a voice to get our point across so he kept those for others who needed them more. Hey, I can't complain. God made me cute, loving and happy most all the time. And we all know that being happy all the time is a really great thing. Too many sad people in the world already.

So for now, I will just be me and just continue to bring joy and laughter to my entire family. My parents, my Grandma Donna, Papa Rick, Uncle Brian & Aunt Nicki, Uncle Jimmy & Aunt Rushie, Uncle Ricky & Aunt Missy and all my extended family too. Oh yeah, I better not forget my big sister Tori and my cousins Olivia, Abigail, Keith and Arielle. They would be upset if I left them out of the family. Did I mention that Abby is the newest in our family. She is such a little cutie. I may be an angel but she sure looks like one.

At this point in my life I have learned that my joy is their joy and that it is my greatest gift to my family and friends. I get lots of love and support from all directions so not to worry. Whether I ever have a voice of my own, my family understands me and best of all they "get me." Getting me is what matters most right now. And teaching others to get me and all the other angels in the world is what the Angelman Syndrome Foundation and its forum is all about.

There is a band of Angels across the world and our families ARE our voices. They have all joined forces to work together to assure others learn about us and recognize the need for further research on our disorder. We are not autistic, nor do we fit into the various other diagnosis's studied frequently by today's medical research. We are Angels and merely wish to be known across the world for who we are.

My name is Miss Emma and I AM proud to be an Angel. xoxo

I am up and running...blog page that is!

Well today grandma decided to start my own blog page......Anyone know what that means?

I am going to have to talk to daddy about this. Maybe he can explain what blogging is? If he can't I know my big sister Tori can. She is 5 1/2 years old and goes to kindergarten so she knows everything. Just ask her!

I bet she will know what grandma is up to. I will let you know what I find out tomorrow. In the mean time, its past my bedtime I so gotta go. Can't let daddy catch me on the computer now can I?

Angel hugs and sloppy kisses to all. Night night......