Happy 65th Birthday Caren!

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After years of searching, my family and I had almost given up on finding a diagnosis for my sister Caren, age 64. We had seen more than a hundred specialists, but her medical mystery had not been solved. We began to accept the fact that we may never answer the thousands of questions we carried in our minds, and we’d made peace with this fate. Yet on June 17th, 2020, we finally received the diagnosis of SynGAP1 from a genetic test administered by Dr. Darius Adams. Little did we know that Caren would become a symbol of hope for other families who are impacted by this rare disease. 

The Miracles

Spring 2020 was truly an awful time for the world. Along with millions of other people, I thought I would lose a loved one to the pandemic. My sister, an epileptic, schizophrenic, intellectually disabled, and autistic individual contracted COVID-19 in March 2020. After several days of inpatient treatment at Saint Barnabas Hospital, my worst nightmare came true. Due to her inability to eat, Caren was placed on “comfort care.” In my adult life, I have always worked endlessly to arrange everything for my sister, but I never imagined I would be planning her funeral arrangements so soon. In the midst of this heartache, I received my first miracle in the form of a phone call – “She’s awake! She asked for food!”

After an unbelievable turnaround, Caren was sent to regain her strength for 6 weeks at the Atrium Acute Care facility. I accredit her remarkable recovery to the staff at both the hospital and care facility. Day and night, incredible health care workers tried everything they could to treat her, and I will forever be grateful. Without these individuals, we would have never experienced our second, and greatest, miracle of this challenging year; a SynGAP1 diagnosis. 

Introduction

My name is Nancy Kessler, and I am honored to share Caren’s SynGAP1 story. I am her younger sister, co-guardian, personal chef, Santa Claus, or whoever she wants me to be on a given day. I play many different roles in Caren’s life, but above all, I am Caren’s biggest fan!

As Caren’s co-guardian along with my youngest sister, I oversee her health and wellbeing. In 2015, my father decided it was in Caren’s best interest to transfer her guardianship to us, given his old age. Our mother passed in 2000, and our father in 2019, a year shy of Caren’s SynGAP1 diagnosis. We also have one brother, the second born, who lives in California. Geography has been a challenge for our family, especially with my younger sister now residing in Florida. I live close to Caren in New Jersey, and have been able to handle much of her care. A number of my responsibilities as a co-guardian include attending all medical appointments, providing yearly reports to the surrogate family court for Caren’s finances/wellbeing, buying clothing and necessities, spending holidays and quality time together, visiting her home and cooking her favorite meals. Despite the distance, it is up to the three of us to ensure that Caren is well attended to.  

Caring for Caren has always come naturally to me. When I was little, I tried my best to help my mother whenever possible. I developed a nurturing and giving personality from caring for her at a young age, and I have always felt a tremendous sense of responsibility towards her. It is no surprise that I ultimately became a teacher and later worked on a child study team, where I had the opportunity to manage children with special needs. I dedicated 35 years of my life to education and the special needs community. I believe my background as a caretaker bolstered my career, as I was able to understand and empathize with children and their families on a deeper level. I devote my success in my work to being Caren’s sister.

I may be biased, but Caren is a pleasure to look after. Her laugh is contagious, but her sarcastic humor catches people by surprise. Caren observes everything and doesn’t miss a beat. She can be strong willed and will always let you know what she wants. Although I am Caren’s sister, I have a strong maternal attachment to her. She knows I love her and I would do anything for her! Caren’s life has not always been easy, but her SynGAP1 diagnosis is worthwhile!

Caren’s History

Caren received her very first diagnosis of a congenital foot deformity after her birth in 1956. It seems almost silly now, given the weight of all of her other symptoms and struggles in her life. As one of four children, Caren’s behaviors were perhaps most difficult on my mother. Even with a babysitter and advice from doctors, my mother felt as though she could never catch a break. As an infant, Caren missed many milestones and experienced her first seizure at 7 months old. Not only was my mother disheartened by her mysterious set of symptoms, but the doctors who had advised her were at a loss as well. 

At 6 years old, Caren was diagnosed with moderate intellectual disability and mental retardation secondary to congenital cerebral defect. At such a young age, Caren’s behaviors and symptoms were unmanageable. It’s important to understand Caren’s symptoms within the context of our times. This was not 2021, where schools are legally mandated to support and educate children with disabilities under Individuals with Disabilities Education Act, IDEA. This was the 1960s, a far cry from the age of expected disability rights that we know today. Disabled individuals, even children, were more often than not “sent away” or segregated — not by the families, but by the institutions themselves. Standard schooling was not an option. My parents tried their best to make it work at home, despite little help or support from the state. Given the societal norms and lack of accommodations, my parents had no choice but to place Caren under the watch of those more qualified to manage her behaviors at a residential school in North Jersey.

At age 8, Caren returned home in order to visit a series of specialists, including a neurologist and psychiatrist in Philadelphia. They recommended an ambitious course of specialized learning activities and exercises called “patterning,” to be administered in the home with help from members of our community. The prescribed treatment was designed to retrain the brain with specific movements such as crawling, and repetitive educational activities. Today, the extension of this type of treatment can be found at the Philadelphia-based Institute for Human Potential. Caren learned to read phonetically, complete simple math and write single words. 

Although Caren learned many critical skills during her childhood, her severe behaviors were not subdued. My parents never gave up on her, as they kept advocating for her care. From the ages of 11 to 17, my parents placed Caren in a residential school for Catholic girls in Pennsylvania. During this time, her behaviors became more bizarre and she was diagnosed with organic brain dysfunction. Even in her early childhood, I remember witnessing Caren bound into a straightjacket in residential placements — an intervention they commonly used to restrain patients in an effort to keep them and others safe. Unfortunately, her temper, aggression and tendencies accelerated in her teens and were overwhelming for the staff.

My parents never gave up on her, and they kept pushing the medical community to produce answers and provide support for Caren. Upon turning 18 and with a diagnosis of schizophrenia, Caren was taken to see Dr. William Beecher Scoville in Hartford, Connecticut. At the time, the only way to advocate for Caren was to undergo an experimental treatment for her condition, or else she would have remained in the back wards of institutions in a straightjacket. Therefore, a lobotomy was the only option.    

A lobotomy is a neurosurgical treatment of a mental disorder that involves severing the connections of the brain’s prefrontal cortex. Filled with desperation and unwavering hope, my parents accepted the treatment. The specific procedure performed is called a “modified” frontal lobotomy with orbital undercutting. Dr. Scoville was initially hesitant and advised placing Caren on other medications for seizures; however, he was convinced to complete this surgery by the desperate pleas from my parents and her doctors. Ironically, Dr. Scoville had performed a similar procedure on an infamous patient, H.M., where the effects and biological underpinnings of anterograde amnesia were investigated. 

While my parents always questioned the surgery and the overall success, we suspect that Caren experiences a degree of anterograde amnesia. She has a difficult time consolidating new memories, but she remembers events and knowledge from her childhood before the procedure. In addition, she developed more severe seizures than seen in childhood after the surgery. 

Upon completion of the surgery, Caren entered a residential institution in Vineland, New Jersey, where she remained until 2013. Throughout her time at the Vineland Developmental Center, Caren was often featured in the school newspaper, participated in the Special Olympics and enjoyed many vacations and outings within the community. In recent years, deinstitutionalization became a major threat to the facility. In order to preserve her care, we moved Caren closer to our family. 

Caren was placed at a rehabilitation and medical group home in 2019, where she continues to reside. Prior to the pandemic, Caren visited my home as frequently as twice a month, and I still visit her very often! When she is not able to visit us, we FaceTime a few times a week. The staff at her home and day program are wonderful individuals, and have facilitated our communication during this uncharted time. Not only has the pandemic changed Caren’s life, but her newly found diagnosis has opened new doors for her as well. 

SynGAP1 Diagnosis

Caren’s diagnosis story is certainly one of a kind. Caren’s geneticist, Dr. Darius Adams, hoped to identify the genetic influences on her overwhelming symptoms; intellectual disability, autism spectrum disorder (ASD), seizure disorder and other behaviors. Although we were not particularly optimistic, we decided to move ahead with testing in September 2019 — before the pandemic. 

Caren’s first round of genetic testing was called a chromosomal microarray (CMA). Illumina describes CMA as being able to identify “structural chromosomal aberrations and provide insight into causative relationship anolmolies.” The CMA test came back negative, but Dr. Adams was persistent about further testing. After all, what did we have to lose at this stage in her diagnostic journey? 

Following the CMA, Dr. Adams wanted to try Trio Whole Exome Sequencing (WES), which is typically administered to parents and their child. Given that our parents had already passed, my younger sister and I participated in the test with Caren. According to Illumina, Whole Exome Sequencing “involves sequencing the protein-coding regions of the genome.” With much anticipation, we finally received a diagnosis of SynGAP1! In combination with my joy from Caren’s survival from COVID-19, I was so filled with emotion. After almost 65 years, we finally pieced together my sister’s health puzzle. Now we understood.

According to the National Organization for Rare Disorders (NORD), SynGAP1-related NSID (non-syndromic intellectual disability), first reported in 2009, is a sporadic condition caused by “de novo (spontaneous, non inherited) mutations.” Symptoms vary between individuals and include intellectual disability (moderate to severe), varying degrees of epilepsy and/or autism spectrum disorders (ASD), mild hypotonia (low muscle tone), global developmental delays, speech delays, oral dyspraxia, and physical aggression (hitting, biting). Two thirds of the children also have seizures, which may be controlled through the use of anticonvulsant medications. Many SynGAPians are also diagnosed with attention deficit disorders, impulsivity and/or mood disorders.  

Throughout her life, Caren has displayed all of these symptoms. Her earlier diagnoses included mental retardation, organic brain dysfunction, speech delays, motor delays, seizures, schizophrenia, global developmental delays, autism, severe to moderate intellectual disability, and severe aggression. 

Although my parents were unable to witness this breakthrough in Caren’s diagnostic journey, I believe they would have felt relieved that we have found an answer. My only regret is that they never knew, despite their continuous support and relentless advocacy. They always thought Caren’s behaviors and cognitive delays were somehow their fault, but they would be amazed to learn about her SynGAP1 diagnosis today. 

The Next Steps

Once Caren was diagnosed, I didn’t know where to begin. I was determined to learn as much as I could about SynGAP1, and I spent many long nights researching the condition. I eventually stumbled upon one of the SynGAP1 groups on Facebook and introduced Caren and me to the group. Naively, I figured I would connect with other caretakers of older SynGAPians, but this was not the case. Through my own research and with input from the members on the page, I soon realized that very little is known about older adults with SynGAP1 pathogenic variants. 

As you can imagine, many parents must have long searched for information on the aging SynGAPian. I tried my best to answer a plethora of questions surrounding Caren and SynGAP1 at her age. The parents and I also exchanged stories, and the site soon turned into an anecdotal database for SynGAP1. 

I have met the most incredible parents from the Facebook group, including Jess from the SynGAP Research Fund (SRF). We discussed the idea of creating a film about Caren, and I could not resist. This project soon became a reality, and Mike Graglia, co-founder of SRF with his wife, Ashley Evans, connected me with Daniel Defabio, the co-founder of The DISORDER Channel. As the director of this film, Daniel was a wonderful person to work with. He is a professional, a calming force, and a creative planner. We had created a phenomenal team for this project and we could not wait to get filming. 

Caren was ecstatic to learn that she would become a “movie star!” She loves being the center of attention, and is a “girly-girl” at heart. Happily preparing for her time in front of the camera, Caren picked out a dress, wore make-up and earrings, and sat still for her manicure! Filming was a lovely bonding experience, and we made sure to celebrate Caren in the process. (Read Jess’s article about the day) With this in mind, we came up with the perfect name for the film: Celebrating Caren

Looking Ahead and Making a Difference 

My goal in creating Celebrating Caren was to make a difference. I wanted to reach families that are yet to have a diagnosis, as I can attest to how difficult this journey can be. I know there are more “Carens” out there, and they need to be found. In addition, Caren is a story of hope for SynGAP families. This community needs to know that their children have the potential to live long and happy lives like Caren. Long-term planning is a must for these families, as they need to begin to think about guardianship and needs trusts for the future. For Caren, our family prepared these documents with the help of an experienced special needs attorney, prior to both parents being deceased. 

Caren’s SynGAP1 diagnosis changed everything for us. Thanks to the Facebook group, we have been able to find amazing specialists that are familiar with the condition. I have also been introduced to tools such as Ciitizen Natural History Studies that have greatly impacted the way I navigate Caren’s health. Ciitizen allows not only me, but also health professionals to access Caren’s medical records. This platform has been a life saver for doctor visits and has given her the opportunity to participate in research. A simple diagnosis can spark a domino effect for science, and we need to identify every SynGAPian out there! SRF has been a powerful force in this arena. Through funding research grants, SRF is making potential treatment possible for SynGAPians. One hundred percent of donations goes towards research that matters, and I cannot wait for the future of this organization and SynGAP1. 

Genetic testing can move mountains for a patient and science as a whole, but it has impacted me in ways I could have never imagined. I am so thrilled to now be part of a greater community. As Caren’s primary caretaker, I have often found myself to be a lone wolf, seeking answers to a targeted set of questions. Being a caretaker is draining at times, but through social media and SRF, I no longer feel so alone. I am surrounded by an entourage of equally passionate and understanding individuals. I would like to personally shout out a big thank you to SRF, who have been my total support from the beginning, especially Mike Graglia and his wife Ashley Evans, along with the Board of Directors and Illumina! Their support and unwavering commitment have made this journey so special. 

Celebrating Caren is so much more than just my sister’s story. Despite the challenges she faced throughout her life, her tremendous strength and resilience is what makes her shine. Caren survived COVID-19 for a reason: to help others and become a part of a cause that is greater than her. I admire my older sister for who she is, and I’m so proud of the work she has put in motion. 

The future is yet to be told, therefore TODAY, my dear Caren, I celebrate you and your life. For you are the difference, and I am honored to be your sister. Happy 65th Birthday Caren!