Curing a Fatal Childhood Disease

SC Phil and Cure Sanfilippo Foundation Partner for February 3 Masterworks
by Glenn O’Neill, President of Cure Sanfilippo Foundation

When my 3 year old daughter Eliza was diagnosed with a terminal disease in 2014, my world stopped.   All of the hopes and dreams I had for her immediately vanished.  To know that my daughter had a disease she would die from in her teens was bad enough, but to find out that she was already fading away before my eyes, was nearly too much to bear.  At that time, she was much like any young child and liked running, climbing, playing with toys, & laughing. She learned to sing songs, read words, say the alphabet, count to 20.  Such a smart little girl, but even then, we were starting to see the signs of Sanfilippo Syndrome.

Sanfilippo Syndrome is a terminal and rapidly degenerative brain disease in children, often referred to as a “Childhood Alzheimer’s.” It is a recessive genetic condition which affects the function of critical lysosomal enzymes resulting in excessive storage of heparan sulfate.  Toxic build-up occurs in every cell in the body and the earliest and most severe manifestations are in the brain. Many children with this disease receive an autism diagnosis before the underlying cause, Sanfilippo Syndrome, is found.  Progressive dementia, extreme behavior and sleep disturbances, seizures, and early death in the teen years are hallmarks of Sanfilippo.  Parents just begin to get to know their child’s personality at around age 3-4, and then it is all quickly taken away.

CSF Eliza

When my daughter was diagnosed, there was no proven treatment or cure, but there was HOPE in promising research in the way of clinical trials.  My wife and I formed a nonprofit Foundation to fund research for a cure for all children.  Cure Sanfilippo Foundation’s long-term goal is a day when newborn screening exists and an effective treatment or cure can be delivered soon after diagnosis.  Along the way, we hope to help save as many children as possible. Because of the rapid degeneration, the work must be done in an urgent fashion as the lives of so many children living today hang in the balance.

In 2016, at age 6 & 1/2 , my daughter Eliza was fortunate to receive a low-dose experimental gene therapy treatment in a clinical trial.  Ten other children have also since been treated, and more will follow. This trial was able to happen, because of funding by family foundations like Cure Sanfilippo Foundation.  Literally, the kind and generous donors of Cure Sanfilippo Foundation are giving children life-saving chances.  Pretty incredible! Cure Sanfilippo Foundation funds many different types of research now which are unlocking mysteries of the brain, and could have implications for more common neurological disorders, such as Alzheimer’s and Parkinson’s. Supporters have helped raise over $5 Million dollars to fund 12 research grants around the world.

For my daughter, by the time she was treated, the reality was that she had lost nearly all her speech and likely much of her understanding.  This disease impacts children so very quickly.  Still, we have HOPE and we love her more and more every day.  Our drive for this mission comes from the so many families of children with Sanfilippo Syndrome that have joined the fight and advocate and fundraise with our Foundation.  It also comes from the deep desire to have NO OTHER family or child go through what we have.  Once you have lived through watching your child lose so much, you want no one else to ever experience it.  It’s an anguish for which words don’t exist.

What carries us through are our faith, family, and the unwavering support of the community and from so many people we have never met.  So many right here in Columbia, SC.  That is why it was such an honor for Cure Sanfilippo Foundation to hear that we were selected by the South Carolina Philharmonic for their 2017/2018 Music for a Cause program!  We have so much thanks.

Music has a very special place in the hearts of parents of Sanfilippo children.  As children go through this dementia, so much of the understanding is taken away, but the connection with music is undeniable.  For my daughter Eliza, now age 8, this is so true.  Whether it’s classical music from the cartoon Little Einstein’s, or the song Wagon Wheel, or her favorite is when I sing Sweet Baby James (by James Taylor) to her at bedtime…she absolutely lights up!  She even seems to try to mouth the words, although she no longer speaks.  It is through her eyes she tells me “yes Daddy I know, I remember.” She smiles and connects.  Those moments and memories truly mean the world to me, and to so many other parents.  Eliza is now in music therapy at Key Changes in West Columbia and enjoys it immensely.  Her music therapist, Monica, works with her using the instruments and her beautiful voice.  Eliza’s favorite instrument right now is the Cabasa.

CSF Eliza Music

Thank you for reading about our cause, and we hope you will come out on Saturday February 3rd for the South Carolina Philharmonic Masterworks concert Kubrick Classics when Cure Sanfilippo Foundation will be featured as the Music for a Cause charity.  Every ticket for the night of Kubrick Classics that is purchased with a mention of “charity” will benefit our non-profit and the cause to save children’s lives.  (75% of ticket price will go to the cause!)  For Cure Sanfilippo Foundation to receive credit, visit or call The Koger Center Box Office at 803-251-2222 (online ticket purchases not eligible).

We move forward to fund urgent research projects to bring more treatments and clinical trial options to children, so that they might have a chance at life, and the best quality of life possible.  It is the continued support and awareness from the community that allows us to make a difference.  Many people coming together for one common goal:  Cure Sanfilippo.  We hope you’ll join the fight with us.  Thank you.  www.CureSFF.org

 

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