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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Get your own

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.

Meet the Families of AS - Nathan's Story

Thank you for visiting my blog!  I have created this blog to share our story and the stories of many other families that have children with Angelman Syndrome.  I would like to create awareness of this neuro-genetic condition and provide support through our common experiences and the resources that are out there.  Angelman Syndrome is often misdiagnosed for Autism.  They are similar in so many ways.  Early into our journey some Doctors had suggested I have my son evaluated for Autism and that I prepare myself that Autism maybe the diagnosis.  Symptoms of AS are: Seizures, developmental delays, protruding tongue, movement/balance problems, minimum or no speech, frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with uplifted hand-flapping movements.


This blog is for families, by families.  I am not a medical personnel, nor do I claim to be.  This blog is beginning with my son Nathan, and his life with Angelman Syndrome.

It was 2008 and we were about to welcome into our lives our second son.  We knew he was going to be a big boy, his weight was expected to be over 9lbs, so I was schedule for a C-section.  My first son Braden was also a large baby at 9lbs 10oz.  The day arrives and everything seems to be going as planned.  Monitors hooked up, we're doing fine, having conversation as I was being opened, my husband by my side behind the blue curtain and not daring to peek over.  He's a cop and bloodshed in the street doesn't seem to bother him, but when it comes to those you love, I guess it's a different story... "Almost done" says the doc, then splash! "Good thing I have an extra pair of clothes and shoes". Doc says.  A tug and a pull and he's out!  I hear him cry, then stop!  I see the nurse run over and they race him to the table.  I can't see much, but I see his arm lay limp.  They suction and suction and seconds seems like hours, still no cry.  As I lay on the table and the doctors continue to close me up, I hold my breath and it feels like my heart stopped beating.  I yell to my husband "Henry!, What's going on?! He's focused on our baby and says "Come on my lil buddy".  Then finally a cry.  They wrap him up and bring him over to my husband and he brings him to me and lays him on me.  I sigh with relief and kiss him.  My "Mother Lion" instincts kick in and I notice he keeps smacking his lips and seems very  irritated, his cry was persistent and I knew something was not right.  His biliruben levels had escalated so quickly and was approaching dangerous levels. It was Jaundice.  We were transferred to a hospital downtown and he stayed for a few days.  Finally, we were headed home and  it seemed that everything was now behind us.  Into the sunset we went...

At our "Well Baby" visits, I started to express my concerns for Nathan.  He wasn't feeding well, I was breast feeding and he would detach and scream.  I thought it might be reflux, but the doctor did not agree and suggested we find a formula.  We went through all of the formulas and none of them worked, he reacted the same.  I also noticed he had a hard time learning to suck the bottle.  At one visit he even lost weight.  I still suggested it was reflux and it was dismissed and never even tested.  I was also concerned with his development, he was not meeting his mile markers.  He was not sitting up when recommended in my books. He didn't roll over when expected and the problems with the bottle persisted. I continued to breastfeeding for the next 18 months and his weight bounced back.  As time went on, I noticed he was not making much eye contact or many sounds.  He liked to look at us from the side and I just thought that was part of his cute personality.

Shortly after Nathan turned one, he was still not walking or talking and at the "Well Baby" visit, I again expressed my concerns.  My first son Braden started walking the day of his first birthday.  "All children will develop differently, so try not to compare." I was told by the doc. "Let's just wait and see", he says.

15 months, still no walking, no talking, no hand clapping, no pointing and the persistent ear infections began with the many medications.  We go to the doc's office again to see if the infection is still there, he shows Nathan the light from the scope that he is about to put in his ear, most kids by this age usually use their index finger to cover the light, but Nathan could not.  I had enough of being ignored! I said "Do you finally see what I am talking about, he cannot do alot

When we took Nathan for the developmental eval., I realized how many other things he should be doing and was not.  It was so hard not to take it personal.  I had to remind myself that this is not MY eval. as a mother.  I kept reassuring myself that nothing was seriously wrong, I just needed to know what to do and how to work with him and he would catch up.  Results were; he was definitely delayed, and did not pass his hearing test.  That must be it, I thought, he can't hear me...  With futher evals from the ENT, he was scheduled to get tubes put in his ears.  That's the answer, I thought... Once we get this done, he can answer me when I call, his balance will be restored and he can learn to talk. Yup... it all make sense!  Tubes in and 1 week later he stands up and pushes his push car across the room for the first time and my hubby catches it all on video!  Victory!

Now let the learning begin, he started physical therapy and speech therapy weekly.  Things were going good when all of a sudden more seizures!!  What?!  Why?! Back to the hospital, back to our Pediatrician, but this time a new Ped, someone who cared and would listen.  We were still waiting to see the Dev. Specialist, so our new Ped, referred us to a Geneticist. 

She examened Nathan and asked if we had ever heard of Angelman Syndrome and that she would be testing for it specifically.  It would take 30 days to get the results.  As soon as I got home I got online, as soon as I read the symptoms on wiki my heart sank and I started crying almost uncontrollably.  I went to my husband and as I read I saw tears coming down his face, he knew too.  With all of the talk of Autism, I always thought it was similar but never felt like the "answer" and now I knew why. This was the answer.  Nathan was 2yr 3 months old we received our results and it was positive.  Deleted chromosome 15.  She handed us an info packet from Angelman Syndrome Foundation and said "No know treatment, no know cure". 
With Nathan still having seizures every 3-4 weeks I started reading "Treating Epilepsy Naturally" by Patricia Murphy.  I took out the dairy, wheat/gluten from his diet, added gluten/sugar free multi vitamin and cod liver oil.  Nathan did not have a seizure for 5 months, then got Strep w/ fever.  Now he will only have a seizure from lack of sleep or when he is sick with fever.  We are working with a Nutritionist and Speech & Physical therapists and I will continue to make sure we provide the best quality of life for Nathan as possible. 
I want to raise awareness and participate in events that raise money to find a cure for Angelman Syndrome, I know it's close!  I love meeting other families.