Let’s Welcome Bianca and Her Son, Manuel, to the BBDF Community.

Bianca Vidal recently wrote to us and was kind enough to let us share her story. Let’s give her and her son a warm welcome.

“My son Manuel is a 17-year-old young man who was recently diagnosed with this terrible disease. Even though at 10 years old he started losing his vision, I never imagine it could be something else. Last year his health started to decline dramatically – it was then that a Doctor found the disease in him. He is declining faster than I thought. He can barely walk and talk now, and he does not recognize who I am most of the time. It is heartbreaking to see him like this. Even though he has good and bad days, his positive attitude is always there. And he always has a big smile for everybody and loves to show off his ‘muscles’.”

Dr. Marco Sardiello’s Research on Batten Disease Paves Way for New Treatments

A team led by researchers at Baylor College of Medicine has uncovered an unexpected mechanism that can explain a form of Batten disease called neuronal ceroid lipofuscinosis 8. The findings published in the journal Nature Cell Biology provide potential new targets for future therapeutic interventions for this rare and incurable disease.

Click here to read the full article. 

Tree Planting

On Saturday morning, the weather was perfect just long enough for the Bensons to share some beautiful words of gratitude and to plant the “Triangle Oak” in honor of all of you. Thanks to those of you who came out. In case you weren’t able to be with us to include your name on the river rocks that were planted with the tree, we wanted to be sure to share their heartfelt message with you:

“They say the true meaning of life is to plant trees under whose shade you never expect to sit.

And, that’s exactly what you have done for our family! In our darkest hour, YOU planted this tree and placed Christiane beneath the only shade in an otherwise desolate and barren landscape. In a selfless act of compassion and love, you have supported us with an unfailing devotion to our family. And, after 10 years of hard work, and on the cusp of a clinical trial, you should be so proud for having put Batten disease on the map! There are simply no words to express the enormity of our gratitude for everything you have done over these last years.

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Our Son Ollie – A Mother’s Story

by SUSIE EGR

This is our handsome son, Oliver James Egr. He is a big piece of our “why” and our superhero. He turned the big thirteen a few months back. When he was born I remember saying “Thank you God for all the abundance in our lives and for this sweet baby boy. He is perfect in every way and has now completed our family ”. He was the typical little boy- ornery but so dang cute. When he started kindergarten we noticed he kept sitting close to the TV and he wasn’t always paying attention. We soon learned he had visual issues. That led to months of additional neuro and genetic testing. I vividly recall that horrific day we received his official diagnosis.- Batten Disease. The genetic company called me on the phone while we were driving to Iowa City for an eye specialist appt for Ollie. To say it took my breath away is an understatement. Darin pulled the car over while I continued to listen on the phone. Ollman was singing “the ants go marching one by one” in the backseat (Not a care in the world.. while ours was being turned upside down) tears instantly flowed from my face and Darin just knew the results weren’t good. I remained quiet as I didn’t want to worry Ollie. That was the longest drive of our lives. After I got the news Dare and I just sat there holding hands with tears streaming. I felt helpless. “No cure….Fatal” is all I heard and it just kept playing over and over in my head. 

Ollie lost his complete vision 6 months after that appointment. Over the years we have seen this disease not only rear it’s ugly head in our son but take the lives of so many innocent, sweet kids. These affected families have became our extended family now. THIS HAS BECAME PERSONAL. 

My faith is strong and I remind myself frequently that our loving Father loves this child more then I will ever comprehend and he walks beside us daily as we fight the good fight. We feel his presence and see him through the kindness of others. That gives us hope. As parents we will never stop advocating for Ollie and the Batten community because they need us! What also gives us hope is putting our efforts towards funding a cure. We are so close!

BBDF 101 – Next Steps to Clinical Trials

In July, BBDF sponsored the Batten Disease Support and Research Association Family Conference where we had an opportunity to update affected families on the progress of our drug development program for the combination therapy BBDF 101.
Visiting one on one with parents at the conference allowed us to share information on the next steps required by the FDA to initiate clinical trials. We were also able to acknowledge the generosity and support of the BBDF community that created the opportunity for these children to receive the first ever treatment for juvenile Batten disease. On behalf of all the families we talked with, thank you for making this treatment a reality for their kids!
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Go Tyler! Beat Batten! – A Sister’s Story

by JAMIE KIM

My brother, Tyler, has always been the most energetic happy little boy I have ever been around.  He never runs out of things to do or things to say.

A few years ago, he started to have seizures and began to lose his vision.  Around a year ago, our family found out that Tyler has juvenile Batten disease. Batten disease is a rare and awful neurodegenerative disease that is terminal. There is currently no treatment or cure but there are researchers who have discovered a treatment that slows the progression of the disease and others are working on a possible cure for the disease.

When I first found out he had this disease, I was a little in disbelief.  I have seen many commercials of people diagnosed with terrible diseases but it never occured to me that it could happen to Tyler.  He seemed like such a happy and healthy boy that it was hard to understand that such a devastating disease was hurting him.

In the first few months of his diagnosis, I did not want to talk about it with anyone outside our family.  I did not know how to tell people what he was going through because it is not a common disease and I knew no one would really understand what was happening.  Our family began first with telling close friends and extended family. More recently, we joined other affected families and set up a fund at Beyond Batten Disease Foundation called Tyler’s Mission.  All donations to Tyler’s Mission go to the research for a treatment and cure for juvenile Batten disease. Seeing all the people who have donated to this cause has showed me how many people care and support our family and it really means so much to us.  It did not cross my mind that so many people who do not know us were also donating and leaving comments of support. Looking at these comments made me realize that it is possible to raise the 6 million dollars needed by next year to start a clinical trial for the treatment for kids living with Batten Disease. So far, Tyler’s Mission has raised over $45,0000! 

This summer, I want to make a difference.  I want to help raise money and awareness of Batten Disease.  It is urgent to raise the funds as quickly as possible because time is not on our side. With donations and support, there is hope for a treatment and ultimately a cure.

Every day I am reminded there is hope for my little brother and others with Batten Disease.  I love Tyler more than words can explain and he brings me happiness everyday from his little kisses to his big squeeze hugs to his goofy bad jokes.  Although he has hard days and struggles sometimes, he always hold his head up high and helps me see how much there is to appreciate in our lives.

Please help us raise funds and defeat Batten Disease by donating to Tyler’s Mission at beyondbatten.org/tylers-mission or visit the Understanding Batten page to learn more about Batten disease. To stay updated with his journey, follow his Instagram, Twitter, and Facebook @tylersmission.

GO TYLER! BEAT BATTEN!

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