Dravet Syndrome Conference

Last summer (2007) we finally got a diagnosis for Jessica. She has a gene mutation that is associated with something called Dravet Syndrome. It is a catastrophic Epilepsy where seizures begin in the first year of life, and usually associated with a fever. Many seizures are very long or status, which means they last a long time, or just as one ends another begins and this cycle continutes. As they grow the seizures change and they have multiple types. The seizures are resistant to treatment with medications. Around the age of 3 the children stop progressing and either stagnate or decline in their development. Up until this point they develop normally and seem very bright and active. This was true for Jessica as well. There are many other things associated with it some of them being, not able to regulate body temperature, cold hands and feet, averse to sudden temperature changes (i.e, going from the bathtub to air temp can result in a seizure), and increased susceptibility to infection. This makes life very hard for these poor little sweeties. Between the ages of 4 and 6 seems to be the hardest time as seizures increase dramatically and many start having seizures while they sleep.


Jessica's seizures now occur mostly while she is sleeping and with illnesses. However we have found that she is "allergic" to some foods. The doctors say she is not truly allergic, but when she eats anything with Wheat, Corn or Sugar, she has an increase in seizures. As these things are in all prepackaged and canned foods, she eats mainly meat, vegetables, fruit, nuts, beans, etc.


We have to be very careful and read labels to look for anything like modified food starch (corn), corn syrup solids, and high fructose corn syrup (this is the worst one for her), among many others. We have recently discovered that sugar substitutes don't have this negative effect on her so we have been able to find a few treats for her.


Jessica has a problem with regulating her body temperature in that she doesn't sweat at all. We ordered a cooling vest for her to wear when she goes outside in the heat, which helps to keep her cool. If she doesn't have this, she goes out for just a few minutes and her face turns bright red and her body gets so hot it thinks it is having a fever. This will cause her to have a seizure.

This last August we were able to go to a conference about Dravet Syndrome. It was held in Chicago and specialists from all over the world came to speak and consult with us. It was a great experience. We did have a short consultation from Dr. Nabbout who is from France. She was a lot of help in suggesting the direction we should take with Jessica regarding medications. We will return to Chicago to see Dr. Linda Laux who is the foremost specialist on Dravet Syndrome in the USA. We are very excited to see her. I took Jessica's medical history with me to Chicago to leave with her. We have an appointment in February to meet with her and her staff. Hopefully she will be able to give us better direction in Jessica's treatment.









Here are a couple of pictures of our trip. Both kids found friends there they want to keep in contact with.

Epilepsy Association of Utah - Utah County Support Group

Hi all,

I am back and hope to post more regularly again. I work as the Secretary of the Epilepsy Association of Utah and have started up a support group in Utah County. If you know anyone who would be interested or would benefit from this please pass this information on to them.

Utah County Epilepsy Support Group
Provo City Library at Academy Square
550 North University Avenue – Room 308
Second Saturday of each Month 3 p.m. – 4 p.m.
Everyone Welcome

Dates through the end of the year are as follows:

September 13th
October 11th
November 8th
December 13th

There are also support groups located in Sandy, St. George, Vernal, and Layton. Please go to www.epilepsyut.org for more information.

Julie

100 Things About Me

1. I love to read.
2. I play the piano and flute.
3. I love sports.
4. My favorite color is Sapphire Blue.
5. Both my kids were born in the same hospital I was.
6. I lived in only one house growing up.
7. I am 4 years older than my husband.

8. Hot Chocolate is my favorite winter drink.
9. I like cop shows and always have. I remember watching LA LAW and
Crazy Like A Fox (80's) with my Dad.
10. I love to fish, but...
11. I don't eat seafood of any kind.
12. I've never lived outside of utah.
13. I love to travel and have been to 8 countries. England, Scotland, Ireland,
France, Mexico, Canada, Japan, and all over the USA.
14. I love musicals/theater.
15. I am not creative/artsy unless I have instructions.
16. I haven't been to Italy, but it is my dream vacation.
17. I have pierced ears, but can't wear earrings. Even hypoallergenic ones swell my ears for like a week. (I sacrifice for special occasions!!)
18. I love music of all kinds.
19. I love flowers: hyacinth, iris, and gladiolas being some of my favorites.






20. My favorite restaurant is El Azteca! Absolute heaven!!
21. I bought my first home at the age of 22.
22. I like all things hot! (Salsa, hot tamales, cinnamon candy, etc.)
23. I am terrified of spiders.
24. I am equally terrified of cockroaches.
25. I like to drive, especially by myself.
26. I love slipper socks! I tend to wear out my socks because I don't love shoes.
27. I can't watch a movie in the dark without falling asleep.
28. I have Epilepsy.
29. I live on the same street I grew up on, but not in the same house.
30. I always wished I was a boy.
31. I didn't play with dolls when I was little.
32. I was too afraid to try out for sports teams in high school, one of my regrets.
33. I have had my appendix taken out.
34. The sun gives me headaches, therefore summer is my least favorite season.
35. I love the spring when everything looks new and beautiful. Fall is my next favorite because of the colors and weather. Then winter, I don't mind the cold, it's a whole lot easier to warm up than it is to cool down. And last and definitely least, summer.
36. I plant a garden every year.


37. I know how to do canning.
38. I am shy in big groups, but am okay one-on-one.
39. I am horrible at keeping in touch with people.
40. Tetris and PacMan are my favorite Arcade/Computer games.
41. I have very slow-growing hair.
42. I like to make blankets/quilts.
43. I had a paper route as a kid.
44. I was a cub scout leader for 4 years.
45. Christmas is my favorite holiday. I love that the feel of it lasts a whole month, not just a day.
46. I love Ruffles, Cheddar and Sour Cream potato chips.
47. I love the smell of the rain.
48. I love to read by the window on a rainy day.
49. One of the living rooms in our house is my Library.
50. I am not a social butterfly.
51. Nachos are one of my favorite treats.
52. I don't like to move.
53. I wish I could play the violin. I actually took lessons twice, but quit both times.
54. I love to bake, anything unhealthy and I'm all over it.
55. I am terrible at keeping a journal.
56. I enjoy being a mom.
57. I am the secretary of the Epilepsy Association of Utah.
58. I have a huge CD collection.
59. My desk is always a mess.
60. I had surgery in high school on both feet, for bunyons on my big toes and bone spurs on my heels.
61. My closet dream would be to be able to sing in a play on broadway. It will never happen, I don't have a great voice. Not to mention the stage fright!
62. My favorite type of food is mexican.
63. I don't like change.
64. I like to take pictures, but don't consider myself a great photographer.
65. I am more than 4 years behind on my scrapbooks. YIKES!
66. I love card games.
67. I am very competetive.
68. I don't like to lose.
69. I was a tom boy. I played every sport my brothers did.
70. I love crushed Ice.
71. I don't like feeling unorganized.
72. I hate running as a form of exercise, and don't ever do it.
73. I love sour candies.
74. I love cats.
75. I was on the Gymnastics team in High School.
76. I am a night owl, I don't do early morning.
77. Strong smelling cleaning supplies give me a headache.
78. I held hands with my husband on the first night we met...after a date with another guy.
79. I have naturally curly hair.
80. I am a VERY picky eater, it has gotten much better as I "mature."
81. I won't eat most cooked vegetables, but I'll eat them raw.
82. I LOVE a good back scratch/rub.
83. I love SKOR and blue Symphony candy bars.
84. I have blue eyes.
85. I love horses and have always wanted to learn to ride.
86. I played flute in the marching band for one summer.
87. I turn into a space heater when I sleep.

88. I AM NOT INTERESTED IN BOOGERS!!! (Jessie likes to show you the ones she picks, look mommy.)

89. I like my space, I have developed a little bit of claustrophobia in the last few years.
90. My most hated household chore is mopping the kitchen, I had to do it every Saturday for years when I was a kid.
91. Matthew says, I'm nice and I like sports like him.
92. I love a good sunset.
93. My favorite cologne is Obsession for men.
94. I was a fan of New Kids on the Block in High School.
95. I like to try new recipes.
96. I feel stressed when I am late, but I always am. You'd think I would learn.
97. I love a clean house.
98. I can keep chocolate forever, once I hide it I never think of it again.
99. I like combination pizza without mushrooms. My husband says that's unusual since I'm so picky.

100. I love to hug and cuddle my kids.

Fun, Fun, Fun

Last Friday my brother called and asked if I wanted to go with him to the BYU basketball game Saturday. Turns out they were trying to fill up the Marriot Center because Air Force was coming and they were selling tickets for $1 each. What a deal! I don't usually go to games because they cost so freaking much, but I couldn't pass up this opportunity.

I took Matthew with me, as he is becoming quite the little sports fan. This makes me so happy, I love to watch sports but somehow married a husband who is not the least bit interested in them. I know you all think I'm lucky, but I actually miss my sports now and then so I am excited Matthew is wanting to do these things now.

As a little side note Matthew asked Marshall to play catch with him the other day by saying, "dad lets play catch and we can count math while we do it because you like math." Pretty clever huh?

It was a great game and BYU won! It was pretty close the second half and Air Force kept catching up and then we'd get ahead again. The stadium was packed and really loud, and it was a nail biter right down to the end. We bought him this little mini BYU basketball that he loves and he practices dribbling all the time. He's actually become pretty good in the few days he's had it.


My dad has keys to the church so he leaves them with me during the week so the kids can go down and run around in the gym. We go at least twice a week, they have such a good time.

Crop Because You Care

The Epilepsy Association of Utah is putting together a crop event at the South Town Expo Center Saturday, February 17th. If you can't read the flyer it says, "Grab your friends and join us for a fabulous day of scrapbooking, games, food and fun. The first 300 registrants will receive a gift bag stuffed wtih valuable products. Enter to win a scrapbook get-away-weekend for 10 and other exciting prizes. Special guests: Wendy Smedley and Angie Lucas, Editors of Simple Scrapbooks Magazine." All the money benefits the Epilepsy Association of Utah, so it is for a good cause. If you are interested in this event, you can register online at www.epilepsyut.org. Please come and support us if you can.

Merry Christmas

Well, we spent most of last week at Primary Children's Hospital in SLC. The doctor's have started Jessica on the Ketogenic Diet with the hope that it will stop her seizures and they admit you for 3-4 days so they can watch for problems, etc. I am a big procrasinator and got nothing done while we were there, so my Christmas card did not get sent out. Therefore, I am posting it on my blog for all to see and hopefully this will do. I am mailing out a few between Christmas and New Years. Big thanks to those who sent cards to us, we love reading about friends and family.

Dear Friends and Family,

Another year has come and gone. In June of this year, we found ourselves having to move. Leaving the old neighborhood and all our friends behind was hard on us all, but we were lucky to find a house close to Julie’s parents. It is in a great neighborhood and we have made many new friends already.

Matthew started preschool at our neighborhood preschool this fall. He is doing well and loves to learn new things. He has learned to read a little bit and loves his teachers. Mattie is a little performer and sang a solo in church in October. He has a vivid imagination and finds all kinds of ways to entertain himself and us. His favorite thing to do right now is swordfight. He has decided he would like to be a swordfighter when he grows up.

Jessica is in first grade this year and enjoying school. She gets to ride the bus, which she loves and has a great classroom environment that keeps her happy. She is starting a new diet, which we hope will help to better control her seizures. She loves to “put the babies to bed” and “cook some food in the oven”. She’s a “great cooker” if she does say so herself. Both kids enjoy horseback riding lessons once a week.

Julie has found herself with a bit of free time this year. With the kids in school, she actually has a couple of hours a day to relax and do things for herself. She enjoys attending an aerobics class with the ladies in the ward. Julie was recently appointed as secretary on the governing board of the Epilepsy Association of Utah. She has made many good contacts through this organization and is constantly finding new resources to help Jessica.

Marshall continues to teach at Provo Canyon School. He is finishing up his Special Education endorsement and is in the middle of the student teaching portion of this course. He has been promoted to the Math Department chair and works with the youth in our ward. He looks forward every day to coming home and spending time with the kids.

May you have a very happy holiday season, and best wishes for the New Year.

P.S. There were pictures, but blogger wouldn't let me upload, so I will try again later.

Catching Up

Well, I haven't posted in over a month. Yet, still I have noting much to say. I have been busy researching something having to do with Jessica's seizures. She is still having a ton and we are in a constant state of sleeplessness. So we are looking for anything that will help her. We are looking into having her tested for genetic problems, and we are going to be starting the Ketogenic diet (high in fat). For some reason this works for some kids when medications don't. We are hopeful, but not without hesitation.
Last month Matthew went through the strangest phase. Because of Jessica's problems my parents help us out quite a bit. Taking the kids overnight twice a week so we can get a full night's sleep in the biggest help. And because of this Matthew is very close to Gma. However he started not wanting to go there at night. This was very puzzling. Then it turned into not wanting to leave the house, especially to go to preschool. I talked to the teacher and she was puzzled too, and it is someone I trust 100 percent. I have known her since I was 8 years old. Every time we went anywhere he said "my tummy hurts." I thought perhaps he was getting carsick, because oftentimes it would happen in the car (but on the way to someplace). Then I thought it was a separation anxiety thing, but It didn't matter if I was with him anytime we were away from home his tummy hurt. And, because of Jessica going to school full day he is getting more one-on-one attention from me than he ever has. I finally took him to the Dr. because I got tired of hearing it. The doctor didn't see any problems, but said perhaps he had acid reflux. So we tried giving him a tums every time his tummy hurt. This lasted about 2 weeks and then one day he just snapped out of it. He was happy to go to school, grandmas, etc. I still don't know what the problem was, but needless to say I am very happy he is back to normal.
It snowed for the first time this year the other day, and the valley is looking so beautiful and finally like Christmas. It was warm for such an unusually long time it just didn't seem right. But now I am into the Christmas spirit. I have about half my shopping list done, and am working on the rest. Hopefully I can finish before Christmas Eve, as I usually procrastinate until the very end.

What kinds of Christmas traditions do you do with your families?