90% Improvement in Seizures, My interview with Dr. Ron Thibert!

I recently had the opportunity to catch up with the Angelman communities very own trusted Neurologists Dr. Ron Thibert!

He is the Co-Director of the Angelman Syndrome Clinic at MassGeneral Hospital for Children in Boston. His specialties include Neurology and Epilepsy Service. Many families in our community travel from many other states just to see him.  He really understand how to provide the best treatment for our kids!  Angelman Syndrome is so rare and when it comes to their brain and seizures, our kids need the best! They need someone who has experience to draw from when deciding the best treatments and medications.

Here he is in an interview talking about seizures in individuals with Angelman Syndrome and effective Nutritional therapies like Low Glycemic Index treatment (LGIT) and the Ketogenic diet.

Dr. Thibert has been a long time supporter of dietary therapies in controlling seizures. He has seen the proof in EEG reports for many of his patients.  In fact, in one of my earlier posts entitle Stop Seizures with 3 Nutritional Therapies I shared with you the story of young Jace who has not had a seizure but shares in the typical AS abnormal EEG, showed improvement after beginning the GFCF diet.  His mom told me he is now considered to have a "Normal" EEG!  That's Fantastic!

Dr. Thibert and his team including Dr. Elizabeth Thiele (both are members of the Scientific Advisory Commity for the Angelman Syndrome Foundation) were able to launch a clinical study to determine the efficacy of the Low Glycemic Index Treatment in reducing seizures in individuals with Angelman Syndrome.  In July 2012 the results were in and published in Epilepsia and on the Angelman Syndrome newsletter.

 "The results were better than we had expected" said Dr. Thibert. 80% reduction in seizures and 90% reduction after 1 year and ALL experienced no significant adverse effects! "5 of the 6 individuals remained on the diet" said Thibert.

I asked Dr. Thibert who is the best candidate for this dietary therapy?
   "Anyone with 1 failed antiepileptic medication".

How does one get their child on the program?
   "Patients may come and see me for an initial visit, we can run the necessary tests to monitor medication and a few other things, and they can consult with our dietician Heidi Pfeifer or transfer to a local dietitian closer to them. Food Allergies will be tested. Then see me on a yearly basis. Labs should be monitored every 3 months, which include Electrolytes, Cholesterol, Liver panel, Carnitine, and Vitamin D".

My son is on the Glute Free Dairy Free diet, what are the differences between the two?
  "They are actually quite similar, when you take out the gluten your are removing a large portion of the carbs like pasta's and breads which will lower your glycemic index. The LGIT consists of high fats and meats and cheese are staples of the diet."

Once on the diet, how long before you can see results?
  "It may take a few months to kick in.  The diet must be consistent and limit carbs to 40-60 grams per day."

Who would not be a good candidate for this diet?
  "It is not recommended for those on a G-Tube.  Another option for them would be the Ketogenic diet.  There is a product called KetoCal and it can be used to assist with the ketogenic diet." 

Why don't more doctors suggest dietary therapy as a first and safe option for seizure treatment?
  "My guess is lack of awareness and maybe they do not want to change what they have always done, which is prescribe medication, the evidence is there to support dietary therapy. We are looking into preparing a package of material to help educate other dietitians".

Here is the publication on PubMed.

Dr. Thibert is hopeful that this information will get out into our community and more people will use the Low Glycemic index treatment to reduce seizures.  80-90% reduction is astonishing!  In my humble opinion, if your child with Angelman Syndrome or any seizure condition for that matter is still having seizures, you should try this diet!!  It breaks my heart every time I hear of someone in the hospital with seizures and it's the same thing every time. Doctor's don't know the cause, they check levels or do an eeg and in the end they  just prescribe more meds.  Been there done that too many times with Nathan!  It wasn't until I took his diet into my own hands, armed with good info and a plan and made it happen!!  You can too!  Dr. Thibert is willing to help each and every one of you!
You can contact Dr. Thibert at: Pediatric Epilepsy Program 175 Cambridge Street, Suite 340, Boston, MA 02114-2796 Phone: 617-726-6540

Another person who is willing to help is Angel Mamma Sybille Bellamy.  She has created a facebook page dedicated to what she is calling the Angelman Syndrome Diet.  She shares the recipes she uses for her son Max who has been on the diet for years.  She also shares important dietary info and articles.

For an example, Sybille has given me a meal plan for 1 day for Max

Morning breakfast: 2 tbs steel cut oatmeal cook in coconut cream. 1 table spoon of manna coconut 1tbs of coconut oil 1tbs of mix seeds-hemp, chia, sesame, flax seeds and 1 tbs of walnut butter.
Drink is herbal tea with coconut oil.

At school Max drinks herbal tea with MCT and a lot of water with lemon juice.

Lunch: 3 tbs of sheep yogurt, 2 tbs of grated apple, 1 tsp grated carrot, 1/2 avocado, 1tbs almond butter, 1tsp of MCT.

Nurse give him MCT (medium chain triglyceridearound) 2 pm 5ml at school.

Afternoon snack: home made almond milk, 1tsp coconut flour, cinnamon and 4 strawberries.

Dinner: vegetable soup- kale, spinach, carrots, onions, with one egg, grass fed butter, goat cheese.
He likes to drink before bed- coconut milk with 1/2 tsp of coconut flour.

During the day Max drinks a lot of water.

I hope you find this info helpful in your journey of helping your loved ones achieve the healthiest lives as possible.

~Lizzie

Anticipating the FAST Gala 2012!

It's almost here, The 2012 Foundation for Angelman Syndrome Therapeutics Gala!

This much anticipated event, which we began immediate countdown after the 2011 Gala ended, will soon be here!  Beginning December 1st, the Angelman community and our supporters will be gathered at the Hilton Reniassance Chicago Downtown Hotel for a weekend long event including an Educational Seminar, Scientific Symposium, and Fundraising Gala.  This "Evening with the Stars, a Benefit for the Angels" will be a night to remember with Guest of Honor: Actor and Golden Globe Winner, Colin Farrell!

This is the 5th annual gala for FAST, but last year was my first year attending.  We are a little over 2 years since receiving Nathan's diagnosis and I am always looking for ways to be involved and meet other parents.  I had such a wonderful time meeting everyone (well maybe not everyone, there was so many people there), listening to Dr. Weeber talk about upcoming research and the real hope he has in finding a treatment for our kids.  FAST also had a live band named 7th Heaven that were awesome!!  Drinks and great conversation 'til 3am with people who "get it" meant the world to me!  Many thanks to the team at FAST made up of volunteers, and most are also parents of children with Angelman Sydrome.

I was lucky enough to be asked about my experience and if I would be willing to share it with everyone in the upcoming FAST newsletter.  Since I love to write and have this little blogging hobby, I was honored to share.  The link below is the newsletter from the FAST website www.cureangelman.org

http://www.cureangelman.org/newsletter/NewsLetter_December2011.pdf

A Mom's view of the 2011 FAST Gala by Liz Sordia
"The 2011 FAST Gala was my first and it was everything I had hoped for and much more! 

My son Nathan was diagnosed with Angelman Syndrome in July of 2010 and since that time I have connected with many AS families on Facebook, so when I knew how many of them would be going, I really wanted to go and meet them in person. 

I arrived in Chicago on Saturday morning sporting my Angels On Earth – Angel wings hat, hoping to be recognized by other Angel families. I was quickly greeted by a few of them that had gathered in the lobby of the Hyatt. As I spotted my Facebook friends, I walked up and introduced myself. I quickly felt that even though I had arrived alone, I was now among family. 

I had so many wonderful conversations with so many people. We laughed, we cried… 
It was with such ease that we bonded over the love that we have for our kids. It is almost indescribable, the feeling that I get when I am around other AS families. Only they truly understand what life is like as an AS parent. No explanations needed.
Prior to the FAST event, I had received the email announcement about the Colin Farrell Gala Ticket Giveaway, I quickly entered and I WON! I was so grateful for the opportunity to meet Colin at the event and to personally thank him and share in a conversation. He has a heart of gold and I am proud that he is a member of our AS family.

I was so caught up in all the wonderful moments of the weekend that I didn’t get to take as many pictures as I wanted, but my memories and new relationships will remain in my heart. I am hopeful as I look forward to the future as the clinical trials began and I will continue in fundraising efforts for FAST. Thank you all so very much and let the countdown to Gala 2012 began!"

Thanks again for letting me share and I am looking forward to seeing everyone in my AS family!

Lizzie xo

The Charlie Foundation - To Help Cure Pediatric Epilepsy

I know that most of our Angels continue to battle seizures. My own Angel has had his unfair share of uncontrollable seizures and many hospital stays.  I am not one to lay down and do nothing while doctors continue to drown my child with medicine that failed to control his seizures.  On my journey to find some answers and other options, I read a book about treating seizures that listed "The Charlie Foundation" as a resource. So I looked them up and gave them a call.  I discovered the amazing things they are doing so I had to share with you.

 

Established in 1994 by Jim and Nancy Abrahams to help cure pediatric epilepsy.  Their youngest son Charlie had multiple seizures daily, they tried many seizure medications and brain surgery. They ALL failed to control his seizures.  One day, Jim went to the library to research seizures and try to find out as much as he could about them. He came across a book about the Ketogenic diet from the 1920's.  They took Charlie to John Hopkins Hospital where they were implementing the diet and within DAYS of being on the ketogenic diet his seizures were GONE!   

I recently had the privilege to catch up with the Hollywood Movie Director, Jim Abrahams and we got to talk about what life is like as a parent to a child with epilepsy, the Ketogenic diet, the upcoming International Symposium: Dietary Therapy for Epilepsy, and how Charlie is doing now.

As a fellow parent to a child with epilepsy, I wondered how Jim and Nancy could find the time and inspiration to start a foundation.  Jim said "It all sort of started with a video they created to help raise awareness about the ketogenic diet and the success that Charlie and so many other children had with it".  That video featured family friend and actress Meryl Streep, who also witnessed Charlie's struggles through epilepsy.  

Once Charlie had been successful on the diet, Jim and Nancy began to reflect on everything that happened. They wondered how, with seeing several Neurologists and Pediatricians that not a single one EVER mentioned the diet as a viable option.
They were now aware of the statistics of a second anti-convulsant medication only has a 10-15% chance of ever being effective to control seizures. Charlie's doctors kept adding medications and his brain surgery had been for nothing. "We wish we would have been given the lay of the land a lot sooner, so we could have made informed decisions about ALL of our options and we were never told upfront that seizures could potentially be deadly."  With these feelings, the desire to help families learn of the ketogenic diet, and the response from the awareness video, the foundation began...

Letters poured in from all over from families that have been effected by epilepsy, including a few that had done the ketogenic diet a very long time ago and shared that they remained seizure free.  One family in particular wrote in to share their story and the struggles they went through with their young son.  With Jim being in the Movie business, he produced a made for TV movie called "First Do No Harm" starring Hollywood actress Meryl Streep.  Inspired by true events, this movie has been described as "A true story of one women's struggles against a narrow minded medical establishment".  Based on my own experience with doctors and finding alternatives that have proven successful, I agree! This is a fantastic movie and Jim was gracious enough to send me a copy to view and share it with our AS community or you can purchase it from their site.  Seeing someone have a seizure never gets easier and this movie connected with me and our struggles with Nathan.

Angel Mama - Erin Sheldon says "I can't say enough positive things about the diet and Maggie. I can only imagine what we'd be doing for seizure control or how medicated she'd be without the role of the diet in her seizure management".

Here is a video of Jim being recognized at the 2011Epilepsy Fellowship at UCLA.

It's what happens in the end that makes all the difference... Today, Charlie is doing very well! Jim says "He can eat anything he wants and is seizure free!"  He is in his first year of college away from home and doing great!





If you would like more information click here for a map to find a keto hospital near you or please visit their website www.charliefoundation.org

The Charlie Foundation hosted their Third International Symposium: Dietary Therapy for Epilepsy and Other Neurological Disorders on September 19th, - 22nd, 2012 at the Beautiful Chicago Hilton Indian Lakes Resort 

There was a Gala Celebration to honor Three time Acadamy Award Winner Meryl Streep and here is the Tribute video.
http://youtu.be/tPa5s_GXZcI

Jim also told me about a Nutritional supplement powder that has been created to help with the diet called Ketocal.  It can also be used for those that have a G-tube. This is a Nutritionally complete, ready to feed keto formula.  Helps make the diet a little easier.

Wherever you are in your battle against seizures, I want to encourage you to contact to The Charlie Foundation. They will be more than happy to help you find out if the ketogenic diet is right for your child and help you find a location near you to get started.  

Website: www.charliefoundation.org Contact via Email: ketoman@aol.com Phone: (310) 393-2347

Stop Seizures with 3 Nutritional Therapies!

I would like to share some helpful information and get the conversations started about preventing Seizures and tips for the health of our Angels.  I will share with you my experience with my kids and of some other Angel families as well that have used Nutritional Therapies.  While we have great minds working hard in science labs for the CURE, there are things we can do in our very own kitchens that will be helpful for our Angels.

It is so important to know if your child has food allergies and/or sensitivities.  Something as "simple" as food can be causing our kids harm and we may not even know it or see external signs of it until it has become a severe problem.  This is also overlooked most times by our pediatricians.  I know that was the case for both of my children (my Angel Nathan and my typical child Braden) and for countless other parents who have shared their stories with me.  We feed our kids many times a day, but how much thought is put into WHAT they are being fed and how it effects their bodies?

Most of you may know of the famous Dr. Sears, author and pediatrician.  Here is a link to an article that came out recently about this very subject, which I feel applies to many of the same symptoms our Angels have and the possible cause.

7 Signs your child may have food intolerance's
http://m.newhope360.com/allergies-amp-sensitivities/7-signs-your-child-may-have-food-intolerance

1. Spitting up/Reflux - Intolerance to casein (Dairy)
2. Chronic diarrhea - Intolerance to Gluten (a protein found in wheat and other grains) or Lactose (Dairy Sugar)
3. Chronic ear infections - Dairy intolerance or Soy. Research shows 90% of kids with recurring ear infections have food reactions. So why didn't any doctor or ENT specialist ever tell me this when BOTH of my boys suffered with this problem and my Nathan had ear tube surgery??
4. Eczema or itchy skin rash - Gluten, Casein (any dairy), eggs, oranges, grapefruit, tangerines, lemons, strawberries and pineapple.
5. Hyperactivity - Artificial colors and/or sugar, MSG (monosodium glutamate) which is in almost all restaurant food.
Crankiness - Gluten intolerance. Studies linked it to neurological symptoms, which can range from moodiness, chronic headaches, ADHD, and COORDINATION LOSS!!
7. Small stature or Picky palate - Gluten sensitivity or Zinc deficiency.  Gluten intolerance interferes with nutrient absorption, suffering kids often fail to thrive!! Zinc is a mineral that normalizes appetite and through it's relationship with growth hormone, helps the body develop.

The article has more details but I wanted to point these things out because it effects so many Angels and I have seen the proof in my kids.  When I removed the Gluten, Dairy, & processed foods from Nathan's diet, his reflux, ear infections, eczema, crankiness/colic was GONE! Even SEIZURES which were at one time uncontrollable, now under control.  It helped me to identify the only two triggers for seizures which were sleep disturbances and sickness/fever.  And now with further guidance from my Holistic ped and nutritional supplementation, he is not having them.  With our success, I must share some resources with you.

In the battle against Seizures there are things we as parents can do!  We cannot wait for our pediatricians and neurologists to suggest it because it may never happen.

Nutritional Therapy/Dietary Therapy

There are 3 Nutritional Therapies that can help our kids.  Gluten/Casein Free (GFCF diet), The Low Glycemic Index diet, and The Ketogenic diet.

For the GF/CF diet, I will link the document created by our very own Pediatrician Dr. David Berger of www.wholisticpeds.com  This is the protocol for beginning the diet http://www.wholisticpeds.com/uploads/GFCFSF%20Diet.pdf He also lists at the bottom of the doc other online resources and links.

Many of you know Neurologist Dr. Ron Thibert.  He is on the Medical advisory board of the Angelman Syndrome Foundation and treats many of our Angels at Massachusetts General Hospital in Boston.  Here is a good video of him talking about the effectiveness of the Low Glycemic Index diet and the Ketogenic diet.

An AS Family Story: By Angel Mommy Danielle Pinders
"Jace is 22 months old and doing very well. He’s had two EEG’s and both have been clear of any epileptic activity which has contributed to his continued developmental progress. In fact, his most recent EEG which also took place on June 1, 2012 looked better than his first one 6 months prior in December. We believe that this is largely in part of his Gluten/Casein Free diet. His Neurologist in Boston (Dr. Thibert) who is an AS expert also supports a low glycemic diet and its many benefits to children with neurological conditions".




This is amazing proof of the benefits that Nutritional therapies like Gluten Free/ Casein (dairy) Free, Low Glycemic index diet and the Ketogenic Diet can be for our kids!

Dr. Elizabeth Thiele is the Director of the Pediatric Epilepsy Program at Massachusetts General Hospital with clinical interest in the Ketogenic diet.  Dr. Thiele is also on the advisory board of the Angelman Syndrome Foundation and The Charlie Foundation.
Board Certifications: Clinical Neurophysiology, American Board of Psychiatry and Neurology, Neurology with Special Qualifications in Child Neurology, American Board of Psychiatry and Neurology Clinical Interests: Ketogenic diet, Tuberous sclerosis complex, Pediatric epilepsy

I would also like to introduce you to The Charlie Foundation and their dedicated work to raise awareness about the Ketogenic diet to help cure pediatric epilepsy.
Stay tuned for my next blog post when I get the opportunity to have a conversation with famous Hollywood movie producer and founder of the Charlie Foundation, Jim Abrahams! He will share with us the latest news from the foundation and the upcoming Charlie Foundation 2012 Symposium in Chicago this September.

View the clip below and for more info NOW click: http://us2.campaign-archive1.com/?u=eef59c2e88be33ecdcbbb42d0&id=1fb0beeb19

With so many options available, you will just have to see which one will work well for your child.  If your child is on more than one anti-seizure med, I strongly urge you to begin the journey, do your own research and DO NOT be discouraged if your Pediatrician or Neuro downplays their effectiveness.  This does not come in pill form so it is not typically encouraged by the medical community, however, we are seeing more Doctors get on board, who truly want to make a difference in the life of our children.

Florida Angelman Family Fundraiser for FAST

Angelman Families get together for a lunch and social fundraiser for F.A.S.T at BJ's Brewery and Restaurant in Tampa, Florida.

On Saturday November 5th many Florida Angelman families came together for a great cause and to hear from Dr. Weeber.  The adorable Angels ranged in ages from 3-21.  After the Angelman walk last May, I had many parents suggest to me that they would like to spend more time with other families and socialize.  So, I kept that in mind.

Over the summer there was a Vivint voting contest for a charity to receive $250,000.  The Foundation for Angelman Syndrome Therapeutics (F.A.S.T) had entered and as votes came in, the excitement was building.  Our AS community really came together to rally for votes.  We reminded each other for our daily vote and posted on the Facebook "walls" of our friends and family or anyone who would listen.  I know that I told all of Nathan's therapist & Dr's and had them voting.  As I learned that this win would afford FAST the opportunity for the first Human clinical trials, I became excited and determined!  We all did and it felt great. We were all working together to get our kids the cure they need and at the same time, we grew so much closer as a community!  FAST WON! I was laughing and crying with joy as I watched the ceremony online.

It was then that I knew... We had to get together to celebrate as a community and who better to join us than our very own Floridian - Dr. Weeber!   I found BJ's restaurant who supports charities and would donate proceeds to F.A.S.T.

It meant a lot for me to be able to meet Dr. Weeber.  Shortly after my son Nathan's diagnosis my husband found the online article of Dr. Weeber's research of curing AS in a mouse.  It was that article that gave us HOPE.

Just days before our lunch, the highly anticipated F.A.S.T newsletter came out to answer many of our questions about the upcoming clinical trials.
click to view: http://www.cureangelman.org/newsletter/NewsLetter_November2011.pdf

40 people had RSVP'd and told me how excited they were to see all the other families.  We ended up having more people in attendance than expected!  We had so much fun!

*We introduced our Angels to the group

*Shared www.MyAngelman.com (a website created by Angel Dad Troy Davis for our AS online community)

*Gifted Chewy Tubes to all the Angels from www.ChewyTubes.com donated by the company.  You can buy these favorite Angel toys on Amazon.com

Dr. Weeber spoke to the group and answered questions.  Everyone was so grateful to Dr. Weeber and his staff members for taking the time to come out and visit with our Angels and share his research with us.
The families are so excited about the trials that will be here in Tamp and ready to sign up their Angels. They are eagerly awaiting the details of who will be eligible, which we understand will be announced after everything is approved and ready to began.

It was such a great time and my heart fills with so much love when I am in a room with so many Angels and their families.

Thank you to Dr. Weeber, Joe Greico, Justin Rogers Ph.D and all the Angel families who came out to Tampa.

Thank you letting me share with you,
Lizzie

(More pics below)

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"Nutritional Therapy" - Carters' Story

I would like to share the story of another AS family that began using "Nutritional Therapies" to help their adorable little boy name Carter. 
This message is being shared by Carters' Mom Nealie Prewitt.

"Carter was diagnosed with Angelman Syndrome before he was 1 year old.  In October 2009, I really began searching for help because Carter was struggling so hard to have control or be successful with BM's on the toilet or in genera.l  He was also getting bigger and harder to distract when he became irritable or aggressive or just "not himself". I was frustrated with the amount of unorganized information I was flooded with on the Internet, I went old school and checked out a couple of Books from the library- Jenny Macarthy's Curing and treating Autism (or something like that ) and the four epidemic A's of Adolescence (again, something like that) Both of these books talked a lot about GLUTEN and what we put into our children. 
Meanwhile my sister had just finished having her children tested for food allergies due to chronic sinus issues.  My new knowledge on food and symptoms of food allergies prompted me to have my boys tested too. My Angel Cater tested allergic to Wheat, Dairy, Pork, Beef, Cherry, and Tree Nuts. My husband and I decided to go all gluten free because of what we read.  I had them tested because at the time I felt like, how could I take away Mac n Cheese, (one of Carter's true joys) on top of all the other obstacles he faces daily? Within 1-2 weeks we saw such a huge difference in his demeanor that we knew we had to jump in full force- IT IS HARD- food plays a huge emotional role in both Brad and my families - that even now almost 2 years later we do not have every ones full support- we hear all the time "can't he have a little?" No!!! The benefits of him not having Dairy and Gluten far out way how things taste and feel in the moment!

Since we have gone GF and DF (Dairy Free) he sleeps soooooo much better, not perfect, but closer to normal than we ever had. He is reasonable to negotiate with, meaning I can say we can go outside after you get dressed and he doesn't instantly start banging his head or scream at me because he is now able to process things where before he just seemed to process- "I am not geting what I want". Carter did not think we understood what he was trying to communicate. 
Carter's BMs have begun to become predictable and a "normal" consistency. Some of his BM issues are habitual because things were so hard while toilet training that he would hold and avoid but has made huge strides with this in the past 6 months. He is always successful at having a BM on the potty now:) Carter also tries really hard to talk- and says yeah, Bye and has a lot of sounds that are building and growing everyday. 
I really believe this started happening more when we removed the things that his body identified as toxins. He is able to think so much clearer and process things so much better now. We know it is food related because Carter is like every other child. He likes what he likes and occasionally will get into something that he shouldn't have, then instantly his sleep pattern is messed up for 4-7 days his skin reacts under his arms, behind his knees and in the diaper rash area, he becomes easily agitated and irritable and just seems crabby because he doesn't feel good.


Carter now understands if there is something he wants and he asks, I can say no, that will hurt your tummy or make you feel sick and he knows that it is not worth it and does not fight me at all. We strive hard to always have "good" things he loves available for him to eat.
I am a firm believer in what you put in your body effects what you get out."


Thank you for sharing Carters' story with us Nealie and we will continue to share the real benefits for our kids by using "Nutritional Therapies" in the upcoming blogs.


Lizzie

Seizures... Scary Seizures..

The scariest part of having a child with Angelman Syndrome is that he or she will most likely have seizures.  My son Nathan had his first seizure at 15 months old.  He was sick with fever.  So it was called a "febrile seizure", which I understood to mean as an isolated incident.  However, this went on for almost a year, being called the same and treated as such.
We were in the hospital on a monthly basis and it was never explained to me that seizures could be deadly.  On one hospital stay the doctors struggled to control his seizures and he lay there heavily sedated.  They pulled my husband and I out of the room and began talking about feeding tubes and a Trachea (breathing tube in the neck).
WHAT IS GOING ON WITH MY BABY?!  Why is his brain doing this?  What is the cause?  Let me at it!!
I ordered the doctors to send me a CPR specialist, and a nutritionist immediately!  I need to know what to do!

Now, anyone can have a seizure.  Symptomatic Seizures are caused from a known stroke, tumor, brain lesion infection or brain trauma.  Seizures with an unknown cause are called Idiopathic.  Although my son has a neuro-genetic condition, his seizures are idiopathic.  They maybe related, BUT NOT THE CAUSE!
As I understand it, Dr's do not completely understand why the brain seizes.  "Abnormal brain activity" it is called.  Well... I believe everything has a cause and effect.  Which is this?  "Rarely are seizures deadly" I was told.

My friends... Our AS community lost 3 Angels recently.  Two of them to seizures.  This is heartbreaking and not ok with me!  This is not what I consider rare.

Since my Angel hardly let me sleep, I put that time to good use.  I searched so much and reached the end of the internet.  Just kidding, but I did find answers and options for seizures.

The purpose of this blog post is to share our journey with you and the things that I am discovering.
Our cure is coming but it may or may not help with seizures.  What I have learned is that seizures can be controlled and it will not cost you thousands of dollars to make a significant difference for your child.

Let's understand that children/people with Neurological problems cannot be expected to have "Perfect" digestion and absorption.  Nutrition is the MOST important thing we can do for them.

*The Ketogenic diet, *Gluten Free and *Dairy Free are options with proven results.  Because they cannot be produced in pill form by the pharmaceutical companies you will not hear this from your doctors.

One year ago I started Nathan on a Gluten and Dairy Free diet.  He eats very simple and REAL food.  For the first time since Nathan was 15 months old, he was seizure free for 6 months.  Now, he will only seize when sick with fever or sleep problems.

I am so grateful for the things I have learned and the success we've had.  But my work is not over. There is more I can do.  This is a journey and one that I need to share with you, so we all can start winning against seizures.

Next post, I will share more details about "Nutritional Therapy", what I do for Nathan and the story of another AS Parent who also practices "Nutritional Therapy" for her Angel who does not have seizures, but has benefited in other ways.
~Lizzie
( you can email me if you want more info immediately Lizsordia@gmail.com)

Medicine and More Meds...

Most individuals with Angelman Syndrome will have seizures.  Statistically, I believe it is 80%.
There are many different types of seizures. They can range from major convulsing to a simple stare or head drop.  Because of this range many different anti-seizure medications may be prescribed to try and find what works for the individual.  Unfortunately, more than one medication is sometimes needed.

Here are the cocktail of meds my son takes twice a day.  Two anti-seizure meds, sleep meds, Cod Liver oil for Omega vitamins and a Gluten/Dairy/Sugar Free multi vitamin.

Here are meds from another sweet Angel friend of ours, Ethan.  This is only part of a four day supply.  

Here is more cocktail meds for another sweet Angel friend named Nick.

Our kids take so much medication. We want our kids to have a better quality of life.  

Vivint is having an online competition and will be donating $250,000 to the charity with the most votes.  The Foundation for Angelman Syndrome Therapeutics (FAST) is in the lead! (Yay!)  Today we are closer to a cure more than ever before.  AS has been cured in the mouse model.  This is promising for our kids.  But we need your help...

We have 2 days left for voting.  It's easy!

1. Click http://www.vivint.com/givesbackproject/charity/43
2. Login with your Facebook account, allow access
3. Scroll down to the bottom of the page and click VOTE!

Thank you for taking a moment to vote!
All the Angels and all us Angel Parents Thank you!

Angelman Syndrome Walk Orlando, FL May 21, 2011

Every year the Angelman Syndrome Foundation hosts a walk to raise money on the same day in many cities all across the country.  This year it was on May 21, 2011.

After Nathan was diagnosed in July of 2010 we wanted to get involved and learn as much as we could about Angelman Syndrome, and help raise awareness so we joined the Angelman Syndrome Foundation.  I found out the closest walk was in Ft. Lauderdale, so I volunteered to coordinate the ASF walk and bring it here to Orlando for the very first time.

Since Nathan was still newly diagnosed and we were still trying to figure it out, we had many trips to the hospital for his seizures that would come in clusters until I took out the Gluten (wheat) and dairy from his diet.  He will occasionally get seizures when he gets a cold or fever, but they are no longer regular and no longer in clusters.  His attention has improved greatly and his learning also continues to improve thank you to our Speech, Occupational, & Pysical Therapist.

So far from my own family in Los Angeles, I was not sure how I was going to coordinate everything for I had never done anything like this before.  I knew some how, some way, it could be done.  I knew that the struggle we went through to get the diagnosis, we couldn't be the only ones.  I was encouraged by my friends and family and AS family friends on Facebook.  I reached out to my circle of influence and it began!

The day finally arrives and many volunteers that I had not know of when I set out for this suddenly appeard, it seemed.  Water and snacks, signs and overhead tarps were all ready! 

So many people registered online and almost all showed up!  Set up went great, we got everyone registered and to my surprise we had in attendance Dr. Charles Williams, board member of the Angelman Syndrome Foundation and who is very involved in the research and healthcare of our Angels.  I had sent him an email with a personal invitation, along with Dr. Weeber, but was unsure if they would show up.  Dr. Weeber was unfortunately out of town that weekend, but would have love to attend.

I met so many amazing families and beatiful little Angels, I just had to hug them all! Here are the pictures of the event.

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I was so happy to have the opportunity to share with the local community about Angelman Syndrome and there was a lot of people who came up to ask about what we were doing and what is Angelman Syndrome.

I thought for sure I was going to get choked up when I said my little speech, but since I didn't have a mic I just kept it short. We had a great time and I felt like I was walking on clouds after the event, I was so happy to have met everyone and our Angels did pretty good in the heat and the weather was pretty nice. We were able to raise over $10,000 in Oralndo and over $917,000 Nationwide!! My heart was filled with gratitude. I also learned so much about how I can make it better for next year and I already have committments from many of my volunteers and new friends.

Thank you so much and I offer to any families of AS, I would also like to share your story and experience with either the walk you attended, and your experiences with Angelman Syndrome.

Sincerely,
Lizzie

Our Dear Angel Ethan

On behalf of his wonderful parents Sarah and David, we wanted to introduce Ethan!  He has a smile that will light up a room!  It's not always easy for Ethan, but he is blessed with two loving parents who are so amazing and an adorable little brother Austin.  Personally, Ethan and his family are very near and dear to my family and we wanted to share this lovely video that they created. 

Sarah also writes a blog http://parkerfamilywa.blogspot.com/ and will be posted on the right side of this blog.
Sarah reached out to me shortly after my son Nathan was diagnosed and has been a great support for me ever since.  Thank you so much Parker family for sharing!!  Ethan is an inspiration to us all!!

2011 Angelman Syndrome Calendar

The 2011 Angelman Syndrome Calendar is here!  Created by a fellow AS parent John Heinzman, father to Andrew, to help support the Angelman Syndrome Foundation.
It features over 220 of our smiling Angel faces.  It's the perfect holiday gift!  Help create awareness and support the ASF.

This is also exciting for us because it features our handsome son, Nathan! May 1st!
If your Angel is also featured, tell me about it and please share the link.

sneak peak http://www.angelman.org/media/files/ASF2011FinalDraft.pdf

Purchase link on left side of my blog or  http://www.angelman.org/store/index.cfm/ses_/c,list,x,0,1000,x/General/Misc/

Thank you for your support and spreading the word about Angelman Syndrome!
Sincerely,
Lizzie

Angel Brittni

Hello to anyone who has an angel in their life. I will start at the beginning.  My daughter Brittni was born with Angelman Syndrome.  I had a completely normal pregnancy and there was no detection of any abnormalities. Brittni was a baby who had colic for almost two and a half months. She cried twenty-three out of twenty-four hours in a day.  I thought I was going to lose my sanity.  Thank you to God for giving us as much as he knows we can handle. 

Brittni suffered from chronic ear infections from about three months on.  They lasted until she was about twelve years of age.  She had constant tubes put in and out of her ears to help with the infections. Furthermore, she had her tonsils and adenoids out at two years of age. She also had Roto virus and ended up in the ICU for almost a week. At four years of age she had an onset of seizures. I had taken her to six different neurologists and all of them told me that there was no seizure activity showing up on her EEG's. The neurologists also did not have a definite diagnosis. They looked at me like if I did not know what I was talking about since I was not an actual doctor. No, but I am only her mom and I did not know anything. I was furious. After that, she started school in the birth to three program at the ARC in Miami. They were wonderful there. She received lots of therapy (speech, occupational, and physical). Then at three and a half years old she entered the public school system for pre-kindergarten. She had the most wonderful teacher. I will remember her forever. Brittni thrived a lot in this program. One day I was called that she was rushed to the hospital because of a grand mal seizure that lasted almost five minutes. She had a couple of them in a row. I called a dear friend at the time and she referred me to a neurologist at the hospital.  He did not work for the group I had originally taken her to. Thank God. He came to see her and said "Mrs. Hart I will do the best I can to help your daughter, but medicine is not an exact science so we will see what happens".

    The doctor followed up on her in his office. After a few visits he stated to me that he had studied in college a certain type of syndrome children had, which was called the Happy Puppet Syndrome. He told me to research it, and see what I come up with. Once I started researching it hit me right in the gut and the heart. I knew this is what Brittni had.

I asked the doctor for a referral to take Brittni to a specialist in Gainsville, Florida (Shands Hospital). Dr. Charles Williams. He took one look at her and clinically diagnosed her with Angelman Syndrome. We had done some genetic testing, but it had come back negative.  He told us that there was no testing at this point that could detect the malfunction she had, because it was so minor. We could have genetic testing done again in several years.  At age fourteen we took Brittni again to the University of Miami Genetic dept. They screened her and did further genetic testing. They had to send her tests all the way to Nebraska to find out results. At the time, Nebraska and Baylor university were the only places that did this testing.  Several weeks later we went back to the genetic clinic and the doctor sat down with us and discussed all of Brittni's results. He told us she was diagnosed genetically with Angelman Syndrome. She has the UBe3a type which is a malfunction in one of the genes.

  

From that point on Brittni seizures, with new medication, slowly started to get under control. Little by little they became less frequent. I trust this doctor so much, and he is still her doctor to this day.

Her ear doctor, her pediatrician, and her dentist all treat her as if she was their own.  I would not trade them for anything.

Brittni, also has a disorder called Pica. She eats everything non-edible. You name it she has ate it. It use to scare me, but not anymore. I am so use to it, I have to keep a sense of humor about the whole thing other wise I think I would cry and worry sick. She has eaten: paper clips, crayons, shampoo, conditioner, shaving cream,glue,rubber gloves, rubber bands, plastic bags, tin foil, charcoal,play dough,finger paint,pencils, pens and so forth. Thank God again nothing has happened to her. She is so fast, sneaky, and clever she does this right under your nose while looking at you. She could probably be the worlds best pick pocket.(just kidding)

Brittni can say up to 25 words on a consistent basis.  She can also communicate with the Pecs system, and she knows a drop of sign language.  Most of the time she just points to what she wants. I thank this progress due to a very special speech pathologist she saw for about eight or nine years.

    Brittni is also a wiz at the computer. She can use the computer appropriately, just like you and I.  She knows how to go to all her favorite sites such as: Disney channel, Nickelodeon, Puzzle sites, and her favorite favorite is YouTube. She loves all the videos.

Brittni can also use the DVD player and VCR player appropriately. She knows how to put in her movies, and take them out. She can use the remote control to switch channels on the television. She is able to make a bowl of cereal for herself, make a sandwich,and put a t.v. dinner from the freezer in the microwave with supervision.

   

Brittni is now 17 and a half.  She has been seizure free for about 6 years now. Her ear infections are pretty much gone. She only occasionally gets sick. She hates going to school. It is very difficult getting her up in the mornings. She is not a morning person. Therefore, she misses more school then she goes. I wish I could find a solution to this issue. I have tried everything. Moreover, Brittni loves going to the movies, blockbuster, bowling, golf, swimming, eating cookies, and long drives.

I joke with her caretaker all the time. If we had thousands of dollars I would pay her to drive Brittni around the country, and Brittni would be the most content Angel in the world.

I do not know what the future holds for Brittni at this point.  I am now in the process of looking into day programs for her as she will be eighteen in a few months.  I will have to do paper work through the court to make myself her legal guardian. She can stay in public school here in Miami until the age of twenty-two.  All I do know is that I will be taking care of Brittni forever and will do all I can to make her life a happy one.