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Saturday, July 28, 2007

Raising Awareness and the Hardest Day Ever!

I don't even know where to begin with this story. I think I have typed stuff in and deleted it about 100 times already. Many of you who know me well, are very aware of everything that our family has been through in the last year as to you I am an open book and feel very comfortable sharing myself, my family and our struggles with you. It is because of the love that you have all shown to me, G, especially Little J and now our Princess J. It is because of you that I feel that I can share our story here now, publicly and hopefully raise some awareness.

At Little J's 12 month check up, I posed some concern to his pediatrician that he was not yet pulling up to try and stand or walk. She was not overly concerned, but felt that we should make an appointment with a developmental pediatrican (since it takes at least 3 months to get an appointment) just to be pro-active. On April 11th 2006, we went to that appointment. Little J was evaluated by a child psycologist and the developmental pediatrician. After the extensive examination and quite a bit of questions and answers she told me that she had a gut feeling about a diagnosis for Little J. She wasn't 100% sure and wanted to have some blood work done just to be sure. This was the first time I had ever heard of Angelman Syndrome. Before we left, she told me not to go online and start looking for information as she wasn't 100% sure at this point, but wanted to start with the easiest and least difficult test. I held out as long as I could. I typed those words into the computer and what I read devistated me. I was drowning in fear and felt like our entire life, future and dreams were being ripped out from underneath us. That night, I slept on the hardwood floor of Little J's room with just a pillow and a blanket crying my eyes out. At this point we still hadn't done the bloodwork and I put it off for a couple of weeks, fearing what the answer would be, but yet wanting to do the work to prove that my Little J did not have this disorder. I finally took little J down to get the bloodwork done and on May 1st 2006, we got that phone call. Our regular pediatrician's secretary called to tell us that our doctor would like to meet with us in her office. I imediately broke down in tears, for I knew deep in my gut that Little J now officially had Angelman Syndrome. I called G at work and told him that the doctor wanted to meet with us in her office, so he was on his way to meet us there. On May 1st, through tears, our pediatrican told us that Little J had Angelman Syndrome. I had so many things racing through my head, but I think the thing that sticks with me the most, is seeing my husband cry. He had his arm around me and was trying to comfort me, but he couldn't hold back his own tears.

For the next two weeks, things were up and down for both of us. Things I loved to do, I didn't want to do. I walked around in an almost robotic daze, just going through the motions of everyday life. The only thing that wasn't robotic was seeing, being with and taking care of our beautiful little boy. We jumped right in, getting him set up with appointments that his doctor felt were necessary, such as a genetic counselor, a neurologist, as well as getting him Early Intervention services. It was such a whilrwind.

Angelman Syndrome is a rare neurologically based genetic disorder. It is believed to occur in 1 in every 15,000 to 20,000 births. It is often misdiagnosed as Autism, Cerebral Palsy or other childhood disorders. There are a few diferent causes of this disorder. The type that Little J has in simplistic terms is that there is a small portion of his 15th chromosome missing. This is the most common type of this disorder with 70% of children having it in this manner. Some challenges faced by patients with Angelman Syndrome are developmental delay, profound speech impairment, movement and balance disorder, ataxia, short attention span, hyperactivity, sleep disturbance, and siezures. Little J has many of these symptoms, but not all of them. One symptom that many of the patients with AS have is a very happy demeanor. Little J definately has this! Thank goodness!

A year later, things are so different for us now. Little J is still the same amazing boy, but making so much more progress everyday. Today, I don't feel devistated by his diagnosis, but blessed. This doesn't mean that days are not hard, or that some days I don't have a mini pity party for myself, but I know in the grand scheme of things we are very blessed and lucky to have this little boy. He is an absolute joy to be around. I have never seen this kid wake up on the wrong side of the crib. If you need a smile, a hug or a big wet kiss, he has one for you. Little J makes friends with everyone anytime we go to the grocery store...or anywhere else for that matter. We have been so blessed to have so many wonderful doctors on his team. We also have been so lucky to have wonderful therapists working with him who are so invested in him and his progress and accomplishments. They have also been such great advocates for him and our family when dealing with the different programs that he is involved in.

I will also say here, that my faith in GOD has never been stronger. When we were first diagnosed, I know that HE was there to help us through that rough patch. HE put many people in our path that had just the right thing to say, or what we needed to hear at that moment. People who we didn't know very well reached out to us and shared their own stories with us. Our church reached out to us. I feel so blessed by all of this. I miss church right now.....might have to go early tomorrow with just Princess J. It is just to difficult right now to go on a regular basis with both kiddos while G is working on Sunday. I'm thankful to know that our church is working to revamp the childcare program to include children with special needs though. This warms my heart and I can't wait till the ball gets rolling with that and I can help!

Okay, now that you have read this big long post, I should get to the part about raising awareness. Kevin Bacon has founded Six Degrees.Org. Six Degrees, in partnership with the Network for Good and Hanes, Hanes will donate up to $10,000 to the top 10 badges charities! The top 10 badges are determined by the number of unique donations, not by the amount of the donation. A unique donation means getting different people to support your cause. They will be checking all of the donation records for each charity badge at the conclusion of the campaign; duplicate email address and credit card combinations will only be counted once, because they violate the spirit of Six Degrees. So please, no intentional gaming of the system or encouraging others to do so; efforts like this will jeopardize your eligibility. Past recipient charities are not eligible.

I hate asking for things, but I hope you will find it in your heart to donate! I would love to see this raise awareness of Angelman Syndrome as well as to support the Angelman Syndrome Foundation. They support many families with information, education and connections. They are also funding a lot of research! Little J will be participating in some research programs at UC San Diego later this year. I would love to see Little J's badge be one of the top 10!!!!

You can donate directly by using the badge you see on the sidebar of my blog. Just click the button that says "DONATE" All donations are handled and directed by the Network for Good.

Edited to add: Someone from another site sent me a question asking if Princess J was affected by this disorder as well. She is not. She was tested during my pregnancy and is negative for this disorder. The type that Little J has is generally not hereditary so there is not an increased risk of reoccurence. Our risk of having a child with AS was the same as every one else, about 1% risk.

Sunday, July 22, 2007

That's Funny!


Princess J is growing so fast!!! I can't believe how big she's getting and how her personality is emerging more and more every day! Lately, she loves to have very long conversations. They are so fun, listening to her "talk" to us in her baby babble! She loves to chat and when you chat back with her, she throws in those cute little smiles and lots of laughing! So stinkin' cute.....even at 2 in the morning!!! Friday, Little J had an appointment at Children's Hospital for a check up. Princess J had awakened at midnight for some food. She went back to sleep rather quickly and let me tell you I was so happy, as there would be no sleeping in for me if we were gonna get to that appointment on time! Well, Princess J decides that 2 am would be a good time to wake up and have a conversation and tell me a few stories. That little girl cried until I picked her up, and when I did, she was all smiles and ready for a chat. She did her incessant babble for an entire hour! She finally had enough at 3 am!!! Needless to say, I didn't run and grab the camera at 3 am, but I did manage to get her in action having a go at Daddy!!! I was so stinkin' tired, but I couldn't help enjoying the chat we had!

Wednesday, July 18, 2007

Harry Potter Palooozaaaaa!

So, the time has come for the final Harry Potter book to be released. In case you've been living under a rock or have been away in the forrest somewhere for while, the new book is called Harry Potter and the Deathly Hallows. Last week, I decided that it would probably be easier for me if I had the new Harry Potter delivered to my doorstep instead of heading out to brave the crowds on Saturday. I headed over to my favorite booksellers website....Barnes and Noble and decided to not only buy Harry Potter (making sure I would recieve it on its release date) but to browse through new books. On this website, the allow you to make a wish list of 25 books. Of course mine is full. I've also been checking out Good Reads. I've been spending a little time each day entering the books I've read and the ones that are on my "to read" list. That list is currently 18 books long and growing...rapidly.

This brings me back to Mr. Harry Potter. Why did I find it necessary to make sure I got my copy of Harry Potter by July 21st the day of its release? I still have to read #5 and #6! So obviously I won't be cracking it open on Saturday when it arrives. I know it's because I got caught up in the Harry Potter Palooozaaaaaaaa! It is going to be so difficult to navigate myself away from the spoilers and to keep myself from accidentaly finding out how the book ends or things that happen. When I say accidentaly, I am sincere about that. When it comes to books, I don't want to know any of the details. I want to read it and be engrossed in it. I want to be clinging to every word to find out what's going to happen next! The longer it takes me to get to the book, the harder this task will be. So, I have resolved that as soon as I finish the book I am currently reading, I am going to read through the 3 Harry Potter books.

The moral of this blog post is PLEASE! Do not spoil Harry Potter....or any other book for that matter for me!

And, since I have this love for buying books and making my "to read" list longer and longer....if you've got a book you love...name it so I can add it to my list!!!

Monday, July 16, 2007

Napping!!!

Why is it when we're kids we did everything possible to avoid taking the dreaded nap. If we only knew then what we know now. Today, I had a really busy day. Got up early, got dinner started in the crock pot and Little J had 3 appointments back to back this morning. Thankfully, all the appointments were here at home! After all was said and done, I was exhausted afterwards. G got home and had a bite to eat, and then I headed off to have a nap! A glorious nap!!! It was so wonderful!!! I love naps!!! Oh to be a kid again and be required to take a nap everyday again!!!

Thursday, July 12, 2007

Priceless.......

1 County
1 Big Company
1 Locked Door
500 Workers
2 Weeks worth of garbage sitting on your curb
2 Weeks worth of dirty diapers created by 2 kids sitting on your curb
200 Replacement Workers
Seeing the Garbage Truck (along with Garbage Truck Security) on your street........








PRICELESS!

Never thought I'd be so happy to see the garbage man....much less taking photos of his arrival!!

Sunday, July 08, 2007

Lucky 7-7-07 was Scrapalicious!!!


So, while everyone was planning their lucky 07-07-2007 to have babies born that day, buy lotto tickets, and get married. It never even dawned on me that there was any odd significance to this day until about 3 days before. Without even thinking about the actual date, I was convinced to spend my Saturday scrapping by Erin and Janice. Still not realizing the date when I signed myself up 2 weeks ago. Little did I know that it would be the best way to spend my day!! After a rough start to the day...Little J had an appointment in the morning and trying to get my stuff together, it turned out to be so productive and relaxing for me! I used quite a bit from my stash and I was so happy with the end product!!! Lucky Me!!! I should have known that it would be a lucky day when my new kit club products arrived too!!! So, are you ready for the next lucky day of this century? If you were to write dates out in the European fashion, you would find that today would be 09-07-2007. So the next lucky day of this century will be....
20-07-2007!!! Apparently just as many people in Europe are getting married, trying to have babies and such on this other lucky day of this year!!! So, I'm making plans to scrap again!! LOL!!! Actually, I don't know what I'm planning, but I'm going to try and put a little thought into the plans of this other lucky day of the year. Maybe I'll buy a lotto ticket? Gotta find something fun to do with the family!



Back to scrapping for a minute....See the heart on the top layout (inside the flower), the little embellishment that says "cutie" on the second layout and the stars on the bottom layout? Can you tell how sparkly they are? I have become addicted to this stuff called Stickles by Ranger. OMG!! It is so easy to use and it can make anything look like bling!!! I've used it on the rubber pieces you see here. In a previous post I posted a layout called Beautiful You and I used the stickles on the flower. Lvoe how it made the flower look all glittery!!! Okay, so that's my product plug for the day.

Almost time to feed Princess J and watch some Big Brother After Dark on Showtime.

Have a great day!!!

Tuesday, July 03, 2007

HOT! HOT! HOT! HOT! HOT!



There is a reason this guy has been Entertainer of the Year for the past 4 years. This years Flip Flop Summer Tour was HOT! Headed out to the concert this evening with my Sister -in-law, my neice and my friend Carole! Didn't have the great seats like we did last time, but Kenny Chesney can make the lawn seem like good seats at his show. The music was great and Kenny was HOT...all of us ladies were happy!

Sunday, July 01, 2007

Something HOT and Getting Tagged!



This time Monday evening, I will be sitting out on the lawn at Shoreline listening to Kenny Chesney!!!!

I have been lovin' his new song, and cannot wait for the new CD to come out in September!!!

So below, I am answering a tag I got and before I reveal the tag or who tagged me I'm gonna tell you who I'm taggin'

I'm tagging:
Jo and
Jenn






I also got tagged by Erin! So, here ya go!

1. WERE YOU NAMED AFTER ANYONE? My middle name is after my grandmother.

2. WHEN WAS THE LAST TIME YOU CRIED? When our little girl was born

3. DO YOU LIKE YOUR HANDWRITING? Yes, most of the time.

4. WHAT IS YOUR FAVOURITE LUNCH MEAT? Salami

5. DO YOU HAVE KIDS? Yes, 2 beautiful kiddos!

6. IF YOU WERE ANOTHER PERSON WOULD YOU BE FRIENDS WITH YOU? Yes.

7. DO YOU USE SARCASM A LOT? Yes!

8. DO YOU STILL HAVE YOUR TONSILS? Yes!

9. WOULD YOU BUNGEE JUMP? Oh Hell to the no!!!!

10. WHAT IS YOUR FAVOURITE CEREAL? Captain Crunch with Crunchberries!

11. DO YOU UNTIE YOUR SHOES WHEN YOU TAKE THEM OFF? Nah, I'm hecka lazy!

12. DO YOU THINK YOU ARE STRONG? Sometimes

13. WHAT IS YOUR FAVOURITE ICE CREAM? Chocolate Gelato!

14. WHAT IS THE FIRST THING YOU NOTICE ABOUT PEOPLE? Shoes..LOL!

15. RED OR PINK? Pink

16. WHAT IS THE LEAST FAVOURITE THING ABOUT YOURSELF? I procrastinate

17. WHO DO YOU MISS THE MOST? My daddy

18. WHAT COLOUR PANTS AND SHOES ARE YOU WEARING? Green sweats/bare feet!

19. WHAT WAS THE LAST THING YOU ATE? Mushroom burger from Chili's

20. WHAT ARE YOU LISTENING TO RIGHT NOW? Kenny Chesney

21. IF YOU WHERE A CRAYON, WHAT COLOUR WOULD YOU BE? Wild Strawberry

22. FAVOURITE SMELLS? Jasmine

23. WHO WAS THE LAST PERSON YOU TALKED TO ON THE PHONE? Erin

24. DO YOU LIKE THE PERSON WHO SENT THIS TO YOU? Hmmm..YES!

25. FAVOURITE SPORTS TO WATCH? Football

26. HAIR COLOUR? Brown

27. EYE COLOUR? Hazel

28. DO YOU WEAR CONTACTS? Yes

29. FAVOURITE FOOD? Spicey Pasta

30. SCARY MOVIES OR HAPPY ENDINGS? Happy Endings

31. LAST MOVIE YOU WATCHED? Beauty Shop

32. WHAT COLOUR SHIRT ARE YOU WEARING? White

33. SUMMER OR WINTER? Summer

34. HUGS OR KISSES? Both

35. MOST LIKELY TO RESPOND? Jenn

36. LEAST LIKELY TO RESPOND? Suzy

37. WHAT BOOK ARE YOU READING NOW? Plum Lovin' by Janet Evanovich

38. WHAT IS ON YOUR MOUSE PAD? No Mouse Pad

39. WHAT DID YOU WATCH ON T.V. LAST NIGHT? America's Most Wanted (you watch I will catch a criminal someday!!!)

40. FAVOURITE SOUND? The voices of my little ones

41. ROLLING STONES OR BEATLES? I can't choose

42. WHAT IS THE FARTHEST YOU HAVE BEEN FROM HOME? Italy/Switzerland/France

43. DO YOU HAVE A SPECIAL TALENT? Is spending a special talent?

44. WHERE WERE YOU BORN? California

45. WHAT SUPERPOWER WOULD YOU LIKE? Cure Children of all illnesses and disabilities