Batten Juvenile Disease CLN3, a Genetic Nightmare

Christina Bouraimi (mother) and Nick Maroulis (nurse) join us on CCTalkRadio from Athens, Greece to tell the story of a brave young man Theodore who lives day by day with progressed symptoms of Batten Disease, CLN3. There are 10 identified types of Batten Disease, which is itself one of approximately 50 diseases called lysosomal storage disorders (LSD), meaning that genetic mutations disrupt the cells ability to dispose of wastes. With Batten disease, cells are thrown out of balance with the build-up of proteins and lipids (fats). Because of these damaged cells, patients with Batten disease suffer progressive neurological impairment, which includes seizures, visual impairment/blindness, personality and behavior changes, dementia, loss of motor skills and the ability to walk, talk and communicate. The arc of Batten disease can vary tremendously for each person due to widely varying genetic mutations; until more progress is made in research and treatments, Batten invariably results in an early death.

Christina describes the fairy-tale like joy of life prior to Batten, and the nightmare that ensued as her youngest of two boys went through the journey of diagnosis with Batten Juvenile CLN3 at the age of 6, which was unknown in Greece at the time in 2002. They received diagnostic news from U. Rochester in the United States, from Finland, and Germany to fully understand the scope of the illness. Theodore lives now a rich and well-scheduled life, enjoying music, political conversation, and following sports despite his loss of sight, cognitive and emotional challenges, and the threat of a deadly prognosis. Christina's resolve to fight for her son in the difficult financial climate characteristic of life in Greece, and Nick's compassion for the boy's desire to live fully without question earns them the "Hero of the Week" title on Childhood Cancer Talk Radio; we salute Theodoros!

In the United States, visit www.BDSRA.org for more information about the Batten Disease community, clinical trials, current research, and support. In the UK, www.bdfa-uk.org.uk/; currently there are no support systems for the afflicted nor is the disease recognized to allow State provided medical assistance. Childhood Cancer Talk Radio is reaching out to the greater global community for financial ingenuity and assistance for helping families like Theodore's in a country where gofundme and other such platforms for crowdfunding do not operate.

Please contact cctalkradio@gmail.com to forward helpful information or financial arrangement proposals for the family. Thank you!

 

 

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About Janet


Blessed with varied interests and an artistic and musical upbringing, Janet had health challenges throughout her young adult life. Despite these she graduated Cum Laude from Wellesley College with an award of distinction for acting, and had also been a champion equestrian. She began a family with her husband Barry later in life, and had finally found happiness with daughter Sophie-Marie (3/12/06) and then baby (Jack 8/30/08). Five weeks after his birth, the family escaped a wildfire in which all worldly possessions were lost. The family relocated in December of 2008 to Agua Dulce CA where they currently reside.

Jack began to have unsettling symptoms at the age of 3; he was taken to Children's Hospital Los Angeles and was diagnosed with DIPG, or diffuse intrinsic pontine glioma, on Friday Oct. 28, 2011, indisputably the darkest experience of Janet's life. The outrage of it made her determined to find the good in the situation, and she asked God to "Put me to work!" After Jack's death, she remained determined to start working to find solutions to DIPG and incorporated Jack's Angels at the end of 2012; the Foundation began its work in 2013. Despite the fact that DIPG is responsible for the majority of brain tumor deaths in children, she had been told there were no solutions for Jack because "the numbers aren't great enough for investors." This remains the primary motivation in her advocacy work, to prioritize children's lives in our medical system in the United States.


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