What If We Never Find a Cure for Dup15q Syndrome?

Harvest Ministry for Special Needs Individuals

 

"There was a time when families in the Dup15q community were told to focus only on care - not cures.  The idea of actually targeting the root cause of Dup15q Syndrome felt out of reach.  Even impossible.  But today, that's changing.  breakthroughs like anti-sense oligonucleotides (ASOs) - designed to quiet overactive genes - are already making an impact in other rare conditions.  And now, that same science is moving closer to clinical trials for Dup15q.  What once felt distant is now within reach.  Real progress.  Real momentum.  Real hope."  - Dup15q Alliance. 

In the beginning of my Dup15q journey, the desperation for a cure was incredibly intense and I found myself pouring over any and all research on the condition and any rare conditions related to it late into the night as I tucked Lucas to bed.  In the stillness and quiet of the night or weekends spent at UC Irvine's library, tears of frustration, helplessness and anger of not being able to find research groups actively doing meaningful clinical trials for a cure became a mission to get researchers involved even if they were generically studying autism and not specifically into his condition.  Lucas was enrolled for clinical trials for an investigator studying autism at UC Irvine and had his group punch a patch of skin from his thigh only to never hear back from them every again.  Lucas was enrolled in an eye tracking study at UCLA autism center spearheaded by Dr. Jeste, a Bonafide Dup15q researcher and a member of the scientific advisory board of the Alliance.  No therapies came out of the studies, but we learned that he does track eye movement and is able to focus his attention onto characters in a skit (they used one from Sesame Street).  It shed light onto his ability to track people better than other individuals with autism whose eye movements are random with no distinct ability to focus in on people. But yet, not therapies or treatments came out of the study. The promise of Applied Behavior Therapy to get him to communicate his needs and wants faded as he was dropped from the program for not making any progress for over 5 years.  The excitement of raising money for transgenic mice models with Dup15q phenotypic features eventually faded to disappointment when propriety rights for the mice posed a hurdle in free exchange of information among different research groups.  Even progress made in basic research with drosophila flies and imaging studies of Dup15q brain cells only made me painfully aware of how much further in years, perhaps decades, it would take for therapies to be available to actual patients, if there was any meat to the findings. 

 As the years move on with Lucas turning 9, 10,11....14 years old and without concrete answers, a pill, a treatment, infusion of any biologics, it became evident that we are still at that stage when parents should focus only on care, not cures because trying to pursue a cure can lead to disappointment and hopelessness and time missed from celebrating the child.  Getting involved in studies initially filled me up with high hopes that something can be done but maybe my hopes and expectations were too high that they eventually left me feeling despair and a bit jaded at the research and the groups that are involved in "finding a cure".  Whenever I encountered a problem, I have always been able to find a solution, troubleshoot, pivot the course of my life to come to a satisfactory outcome so encountering a situation like Dup15q where I can't find an outcome that "fixes the problem" poses as a very frustrating challenge. Instead of focusing on finding a cure, which may or may not happen during his lifetime, my mind pivoted to finding meaning in the situation instead (see my previous blogs addressing this topic here).  

I realize the motivating drive for desperately trying to find a cure was my fear and anxiety.  Fear of suffering because of this condition and the anxiety of not being able to do anything about it. I expected scientific knowledge to fix most of humanity's problems.  Science has allowed most people on earth to keep disease at bay by understanding the cause of infections from bacteria and viruses and invented vaccines to make them less harmful.  Most people have access to clean drinking water, transportation which in compared to human history zips at unheard speeds.  We've built rockets to man the moon and have people live temporarily in space like the ISS and can garner energy by splitting the atom.  These advancements keep our fear and anxiety of the unknown and being helpless victims of nature at bay.   But what did humanity do before all these technological advancements to ease their fear and anxiety?  When death, disease and suffering was all around? How did they cope?  

They sang, they danced, they told stories, they prayed, they built communities, they beautified their surrounding and their bodies with art, design, architecture.  They found meaning of their place in the cosmos by exploring their divine connection to God, Source, Love.  Every achievement in music, dance, art are loving balms to the fear and anxiety of being placed in a world of unimaginable horrors and suffering and a culmination of love to ease the pain.  Where would we be without these balms, like lullabies and gentle taps on our backs by a loving grandmother to help keep the monsters at bay as we fall asleep?  Finding a cure for my son's condition would be amazing but even if we don't find one during his lifetime, life will go on and we will create beauty and meaning around his condition. I am not obsessively trying to find a cure as I initially did and ignore other aspects of beauty about his life.  So came my realization that science, a cure, genetic engineering, transgenic mice are not the end all be all to our worldly dilemmas like having a son with Dup15q Syndrome.  Love is. 

If a cure comes, great and if not, that's OK, too.  Though, having said that, if clinical trials for ASO's are made available, I will be the first one to sign Lucas up!