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.

We are pleased to introduce Angel Collin Preston!

Collin’s Story
by Rebecca Preston

After nine months of a blissful, uneventful pregnancy, our first child was born. Collin was placed on my chest and I was overcome by love for him. He was the most beautiful baby I had ever seen. Within minutes though, I found myself asking the doctor and nurses over and over again, why his cry sounded like a forced screech, why his right eye wouldn’t open, and why his breathing sounded so harsh. I also remember the nurse who laid him on my chest- she seemed to warn me that his tone didn’t seem right as he flexed and stiffened on his way to me and almost stood up on the bed instead of cradling into my arms like a newborn should. Even with this, his apgar scores were 9 and 9 and no one seemed concerned except me, and I was just a paranoid first time mother.

The next two days in the hospital went relatively smoothly. Barring a little jaundice, Collin slept well and nursed well and passed all the mandatory screenings. Each of our 3 days there I asked separate rotating Pediatricians who visited us why his breathing sounded the way it did and why his eye wasn’t opening. They all dismissed my concerns saying his eye was probably from the antibiotic ointment that the newborns get and his breathing was probably from swallowing some fluid during delivery. I was less than reassured, especially since I opted for him not to get the antibiotic ointment after he was born.

After we had been home for a day or two, my peaceful newborn from the hospital was nowhere to be found. Collin cried about 23 hours a day, didn’t want to be held, couldn’t be soothed, and just wanted to be left alone. He didn’t make eye contact with anyone and never searched for me when I wasn’t around. He had a horrible time sleeping- so much so that I remember after 2 or 3 weeks of barely ANY sleep, people started bring us swings, rockers, chairs, soothing music machines…they must have thought we were surely unequipped as first time parents and that had to be the issue. Nonetheless, Collin refused to sleep unless he was in a swing or if someone rocked him and then held him without breathing or moving for a half hour at best.

During this time, we had already begun our affair with Specialists, although we never could have guessed that it was going to grow exponentially in the years ahead. At our first pediatrician visit out of the hospital, I was still concerned about his eye and his breathing. We were sent first to an Ophthalmologist, who diagnosed him with a weak levator muscle on the upper right eyelid, or a droopy eyelid due to weakness. We began patching his eye daily at 10 days old. We saw great improvement over time and it is hardly noticeable now. Down the road though, he also developed intermittent bilateral exotropia, which means that his eyes drift toward the outside every once in awhile. We still patch him daily for this condition to help strengthen the eye muscles. The only other alternative is surgery.

Meanwhile, I was having a terrible time nursing Collin. I was hell-bent on nursing and believed that was the most precious gift I could provide my son. He nursed so nicely (although ineffectively) in the hospital, and although you hear horror stories about breastfeeding, I really thought we had the hang of it. Ha! After we were home, he would arch, scream, try to cry (he STILL didn’t cry normally)…anything to avoid nursing. He would finally give in after hours of struggle out of pure exhaustion and near starvation I’m sure, and then he was too weak to suckle very long before falling asleep. He also developed terrible reflux, which made the whole situation that much worse. He was spitting up most of what he took in and probably in constant pain from the burning in his chest. I was raw, bleeding, and engorged. I even had mastitis at one point with fever and chills. As a pair, we were a mess.

We hired a lactation consultant who came to the house to teach me how to nurse my baby. I was crushed. If there was anything I was supposed to be able to do right after carrying this kid for an eternity, it was to nurse him! She worked with Collin and me for probably 3 hours- in the glider, on the bed; sitting up, laying down, football hold, sideways hold….nothing was working. She was also a Labor and Delivery Nurse and
she would be the second nurse to mention that he didn’t seem ‘quite right’, especially in regards to his muscle tone and his fist clenching. I had no choice but to do the best I could with nursing and buy a double electric breast pump, which I used to pump my milk for Collin for 10 months!

On top of all this, but not surprising, Collin had lost so much weight from ineffectively nursing, refluxing, and burning so many calories crying and fighting all the time, that at his 3 week visit we were still dealing with jaundice and he was deemed Failure To Thrive. My heart sank as I began supplementing my breast milk with formula. Slowly but surely the jaundice resolved and he gained weight little by little. Along with the start
of the formula though, came severe eczema, which we eventually identified as a dairy sensitivity. It took him almost 2 hours to finish a 6oz bottle because of the low tone in his mouth, which we were still blissfully unaware of.

Eventually we made our way to an ENT (ear, nose, and throat doctor) to find out why he had such noisy breathing. They scoped him, which consisted of threading a small camera up his nose and down into his throat to find the problem. Collin was only a couple months old and it was my first heartbreaking experience that I had to subject my precious baby to. The doctor diagnosed him with Tracheomalacia, which is a softening and weakness of the trachea, causing it to sort of flop with air flow, resulting in the stridor that we hear when he breathes. They predicted he would outgrow this by 2, but at almost 4 we still hear it. It is better than it was, but gets really bad anytime he is sick.

At around 3 months of age, things still didn’t seem right. Collin was still very floppy. He wasn’t bearing weight on his feet at all and you had to keep two hands on him at all times when you held him or he would fall backwards. He was also completely unaware of people and remained unengaged with everything. I expressed some concerns to my pediatrician at the time who sent us to a Neurologist. The doctor told me that he wanted to run genetic testing, do an EEG, and get an MRI. I told him I thought he was crazy and
there was no reason to do that. Collin was an adorable baby and there was nothing wrong with him. When I pushed him further on what he was thinking and why he wanted to run all those tests, he told me he thought Collin might have Cerebral Palsy because his legs were scissoring. I left in a huff thinking the man was insane.

Truth be told, in my gut, I knew he was right. There was something off here and things weren’t adding up. I knew it the minute Collin entered this world. I started searching for a new pediatrician who wasn’t so much of the ‘wait and see’ mindset. If there was an issue, I was going to need to put my denial and heartbreak aside and get aggressive.
As a precaution, I had already submitted all the paperwork for the Early Steps Program and had Collin evaluated at 3 ½ months old and approved for therapy. I think they gave him one half hour of Physical Therapy (PT) a week to start. Still hoping he was just delayed, I would start him in PT at 4 months old until he got caught up. Meanwhile we

started with a new pediatrician, who is still my rock today. He had several concerns and was able to be real with me about what he was thinking and why. He also took my concerns seriously and never brushed me off as just a mom who didn’t know anything. We became fast friends, thankfully, because I didn’t even realize how much I was going to need
him.

By 6 months, we had an appointment with a different Neurologist who was well known in the community. He too wanted an EEG, genetic testing, and an MRI. We had all of it done immediately. He spoke with me after the EEG, explaining that it showed some
abnormalities, but he wanted to wait until the rest of the test results came back before worrying too much about it. I took that as a good sign and was further convinced that Collin just had some physical delays. Next was the MRI. It was painful to see my
chubby little 6 month old baby in a huge hospital crib, head wrapped from the EEG, and having to hold him down while they put the mask on him to sedate him for the MRI. I cried as I left the room, to wait for what seemed like forever.

The call from the neurologist came a few days later saying that the MRI looked fine. Then I received a call from the geneticist when I was in Speech Therapy with Collin at the time, as we had decided to add ST and OT, as well as more PT by then. “Hi Mrs. Preston. The results of the genetic testing came back today.” Every word felt like it took him a year to spit out. “It shows a small deletion on the 15th Chromosome. I need to refer you to a geneticist for further testing. I’m very sorry.” My heart sank and I started to cry. I didn’t have any idea what that meant, but I remember the first thoughts that went through my head were ‘this is permanent’ and ‘I can’t fix this’. I felt numb and powerless and I walked out to tell his PT who I had become close friends with already, and I couldn’t feel myself walking, or talking, or thinking. I felt dizzy and I sat down. Then I had to tell everyone else I knew the devastating news, fielding 100 questions I didn’t have the answers to.

We were referred to a geneticist who ran another test to differentiate if the deletion was on the maternal or paternal portion of the 15th chromosome. That would determine if it was Prader Willi Syndrome (PWS) or Angelman Syndrome (AS). She was not the most sensitive person and she assured me that because Collin was chubby that it was PWS. He was 7 months old, of course he was chubby! She also advised me to not waste time or money on any off beat or alternative treatments or studies, but to just stick to the normal therapies if I wanted to and let Collin ‘do the best he can’. We never went back to her. I despised her so much that I wouldn’t even go back to get the results. We had my pediatrician get them. It took a month for them to come back and in that time I had joined the PWS association, read everything I could about PWS, and met a local mom with a young daughter who has PWS (who I am still friends with today).

We went to see my pediatrician and were there as the results were faxed in. It was October 13, 2008 and Collin had just turned 8 months old on the 11th. We had all prepared for a PWS diagnosis, but as he read it, he paused, looked up at me and said “Angelman Syndrome”. I felt like I walked into an exam that I didn’t study for. I didn’t know a thing about AS. He admitted that he didn’t either, except for the seizures. Over the coming months, we would all learn together. It would be a long, challenging,
painful road, glittered with hope and optimism along the way.

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