Bringing Sammie Smiles: A Child Living With Batten Disease in New Jersey

GARFIELD, N.J. - May 2, 2013 - PRLog -- Samantha was born on February 1st 2007.  She was a beautiful full term baby girl weighing in at 7 lbs 13 oz and measuring 21 inches.  She was a perfectly healthy and happy little girl.  As she grew she proceeded to meet all her milestones just like you would expect from a normal and healthy child.  She began to crawl, walk, talk and play just like all kids her age did.  Mommy and Daddy couldn't be happier with their little princess.  She was perfect in every way and had the most beautiful smile we could have ever imagined.
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Sammie had her first seizure on April 4th 2010.  She was lying in bed watching her favorite movie Finding Nemo when she suddenly began to vomit and became very lifeless.  Her lips turned blue and she seemed like she had stopped breathing.  The ambulance took her to the hospital and they proceeded to run multiple tests.  She was hooked up to a video EEG for 48 hours but at the time the doctors could not find anything wrong with her tests.  Two weeks passed and she was sitting in the car with her aunt when she began to look as she was staring off into space.  She began started to vomit once again and we knew something was wrong.  This time the EEG showed abnormal spikes in the back of her head and she was diagnosed with epilepsy.  We were sent home with a prescription for Trileptal to treat her seizures.  This was not a quick fix and she proceeded to have seizures at least once a week over the next year as we traveled back and forth to the hospital desperately trying to find the right mix of medicines to help our baby girl.  In April of 2011 Sammie started to become very clumsy and began regressing in her speech and motor functions.  At this point our neurologist suggested something more than epilepsy was at work here and we were put into contact with a geneticist.  The geneticist proceeded to run a multitude of blood tests as Sammie's regression became more apparent.  In November of 2011 Sammie had a biopsy done to test for Mitochondrial Disease.  The test came back negative but it gave a clue to another possibility.  On January 3rd 2012 we were given the worst news a parent could ever get.  It is a day we will never forget.  Sammie had been officially diagnosed with Late Infantile Neuronal Ceroid Lipofuscinosis, or as it is more commonly known, Batten Disease.  A rare and terminal degenerative brain disease with no known cure or effective treatment of any kind.

On June 19th 2012 Sammie was accepted to be a part of a clinical trial taking place at New York Presbyterian Hospital in New York City.  She underwent an extensive and invasive brain surgery to inject a harmless gene-bearing virus in the hope of significantly slowing the progression of the disease.  The trial is still ongoing and we are hopeful that this has not only given us some more time with our angel Sammie but also that it has helped the medical community learn more about this disease so that we can work towards finding effective treatments and ultimately a cure.

Today Sammie can no longer walk, talk or eat and has completely lost her vision.  We feed her via a feeding tube multiple times throughout the day to ensure she has the nutrition to live.  She receives multiple medications throughout the day to control and prevent her seizures and also to minimize the sustained muscle contractions she has developed.  Despite all of this Sammie still finds the strength to show the world that same beautiful smile she has always had.

Batten Disease is so rare it does not receive adequate funding from the government and pharmaceutical companies neglect to perform research into a cure because it would not be profitable given that so few children are afflicted with it.  That is why we have created this site in honor of Sammie to help raise awareness and funds for this horrible disease.  The only way we can ever hope to defeat it is to get more people to join the fight.

To learn more and how you can help, please visit our website at http://www.bringingsammiesmiles.com.