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Tay-Sachs Disease and why September holds significance

By Patrick Donovan – Author/Screenwriter
US Navy Disabled Veteran – 1980 – 1991
Seattle, WA (The Hollywood Times) 09/14/2023

Empowering Jewish Families for a Brighter Tomorrow:
A Ray of Hope in the Shadow of Tay-Sachs Disease

– Patrick Donovan

What is Tay-Sachs?

Tay-Sachs disease is a fatal genetic disorder that primarily affects the nervous system, leading to a progressive degeneration of motor skills and mental abilities. Most commonly identified in infancy, the disease causes severe disability and typically results in death by early childhood. Though prevalent among individuals of Ashkenazi Jewish descent, it can manifest in any population. Both parents must be carriers for a child to be at risk, with each child having a 25% chance of developing the disease. September is Tay-Sachs Awareness Month, a dedicated time to amplify knowledge about this devastating condition. Various organizations, such as JScreen, champion the cause by raising awareness about the disease, promoting comprehensive genetic screening, and offering specialized counseling to inform and support families potentially at risk.

Does Tay-Sachs only affect the Jewish population?

Tay-Sachs disease does not only affect Jewish families, but it is notably more prevalent among individuals of Ashkenazi Jewish descent. Specifically, the carrier rate among Ashkenazi Jews is approximately 1 in 27. However, it’s essential to understand that Tay-Sachs is not exclusive to this group. The disease can and does affect other populations. For instance, the carrier rate is about 1 in 50 among French Canadians and Cajuns of Louisiana. It’s also present, albeit less commonly, in the general population.

The higher incidence in certain ethnic groups can be traced back to the “founder effect,” where a specific mutation occurs within an initial set of individuals in a larger population. As these individuals reproduce, the mutation is passed down and becomes more common within that subgroup, especially if there’s a tendency for that community to intermarry. While awareness campaigns might emphasize testing in high-risk populations like the Ashkenazi Jewish community, it’s crucial for everyone, regardless of ethnicity, to be aware of the potential risks and to consider genetic screening if planning a family.

Describe the specific Ashkenazi Jewish descent and who are they?

The Ashkenazi Jewish population refers to Jews who historically lived in the medieval region of Ashkenaz, which encompasses parts of present-day Germany, France, and Eastern Europe. Over centuries, due to various historical events such as migrations, expulsions, and the Holocaust, the Ashkenazi Jewish population dispersed, with many eventually settling in the United States, Israel, and other parts of the world.

Ashkenazi Jews have developed a distinctive culture, language, and set of traditions. Their traditional language, Yiddish, is a High German-derived language historically spoken by the Ashkenazi Jewish diaspora. It incorporates elements of Slavic languages, Hebrew, and Aramaic.

Genetically, Ashkenazi Jews have been a relatively isolated population, leading to certain genetic markers and diseases being more prevalent within this community than in the broader population. This genetic distinction is often the reason behind the higher prevalence of certain inherited diseases, like Tay-Sachs, among Ashkenazim.

It’s worth noting that the Ashkenazi Jews are just one of several Jewish ethnic divisions. Others include Sephardi Jews (originally from Spain and Portugal), Mizrahi Jews (from the Middle East, Central Asia, and the Caucasus), and various other smaller groups. Each group has its own unique history, traditions, and cultural practices.

History of Tay-Sachs and why September is significant.

Every year, as the autumn leaves begin to change, September holds a significant resonance for many Jewish families. It becomes a month dedicated to amplifying the awareness of Tay-Sachs disease—a condition that has left its mark on countless families. But this September, we spotlight the resilient effort of JScreen, an organization dedicated to curbing the impact of this dreaded disease and other genetic conditions.

The tragic tale of Tay-Sachs is one that’s all too familiar within Jewish communities, especially among those of Ashkenazi descent. A life-threatening neurodegenerative disease, Tay-Sachs ruthlessly erodes the nervous system of those it afflicts, typically presenting its harrowing symptoms in infancy and culminating in death during early childhood. When both parents carry the Tay-Sachs gene mutation, their children bear a 25% risk of being affected.

Amidst these grim realities, the poignant stories of Bonnie Davis, Kevin Romer, and Shari Ungerleider—parents who faced the unimaginable loss of a child to Tay-Sachs—offer a clarion call for change. Their shared vision, channeled through JScreen’s mission, is a world where no parent endures the pain they’ve known.

Bonnie Davis’s narrative echoes the sentiment many families share: the sheer need for knowledge. As she painfully recollects, despite both her and her partner being Ashkenazi Jews—a group at a heightened risk—no medical or religious guidance alerted them to the necessity of genetic screening. The importance of preconception genetic testing, combined with individualized counseling, is championed passionately by Shari Ungerleider, who channels her son Evan’s memory as a force for positive transformation.

Kevin Romer’s story introduces another crucial dimension to the conversation: the dire consequences of inadequate testing and misinterpretation. His family did everything “by the book,” yet a flaw in the screening process shattered their world. His unwavering spirit led to the establishment of The Mathew Forbes Romer Foundation, which has since joined hands with JScreen to amplify the scope and impact of genetic screening initiatives.

But it’s not just about preventing sorrow; it’s also about celebrating life. Molly Meyers’s account with JScreen is a testament to the power of informed decisions. The unexpected revelation of both Molly and her non-Jewish husband being Tay-Sachs carriers could have spelled disaster. Yet, with the guidance and support of JScreen, they were armed with the knowledge needed to ensure the birth of a healthy child.

In today’s age of scientific marvels, it’s distressing to note that preventable genetic tragedies continue to unfold. As organizations like JScreen make strides in bridging the gap between knowledge and accessibility, they become beacons of hope for countless families.

JScreen’s comprehensive ReproGEN test, suitable for individuals between 18 to 45, is a game-changer. By screening for over 200 genetic diseases, it provides invaluable insights into a couple’s genetic landscape, equipping them with the foresight to plan a healthy future for their children.

In conclusion, as September casts its spotlight on Tay-Sachs awareness, it also shines a light on the unyielding efforts of organizations like JScreen. By intertwining advanced genetic technology, patient education, and personalized counseling, they offer the world a fighting chance against the devastating ramifications of genetic diseases.


Interview with Becky Benson

Patrick: Thank you for joining me today, Becky. It’s a pleasure.  How are you doing?

Becky: Thanks, Patrick, I’m doing well.  I’m glad to meet with you today to help spread awareness of Tay-Sachs disease.

Patrick: So, what is Tay-Sach’s disease and who does it affect? This is the first time I’ve ever heard of this disease.

Becky: Tay-Sachs is an ultra-rare recessive genetic neurological disorder.  There are three onsets of the disease: infantile, juvenile, and Late Onset (adult).  Unfortunately there is no treatment or cure for Tay-Sachs disease.  With the classic infantile and juvenile mutations these conditions are fatal.  With the adult onset, it is extremely debilitating.  Children with Tay-Sachs appear healthy at birth, but soon begin to show signs of the disease as they are not able to meet their milestones.  Most children with Tay-Sachs will never crawl, walk, or talk.  They will lose all mental cognition, the ability to swallow, physical paralysis will set in and they will often suffer from daily seizures.  Anyone can be a Tay-Sachs carrier as pass along a mutated copy of the HEXA gene.

Patrick: As September brings awareness to Tay-Sachs, talk to me about JScreen and how this non-profit is raising awareness about genetic diseases by providing comprehensive screening, and counseling on genetics?  Also, can this help with all types of genetic diseases and not just Tay-Sachs?

Becky:  Being forewarned is being forearmed.  Everyone should have the most comprehensive information regarding their health in order to make the most informed choices when planning to expand their family, or care for themselves.  Genetic screening offers this information for Tay-Sachs and many other disease as well.

Patrick: What is the Tay-Sachs mutation and how prevalent is it among the population or is it affecting specific ethnicities?  Wasn’t Tay-Sachs eradicated and why has it seen a resurgence when genetic testing is so readily available? Is there a cost? Is there a lack of awareness that genetic testing is out there?

Becky: Tay-Sachs was never eradicated, thus there is no resurgence, but children continue to be born affected by Tay-Sachs as it is a recessive genetic disorder, meaning both parents must pass along a mutated copy of the gene in order for a child to be born affected.  Usually this happens because the parents do not know their carrier status.  The cost of testing may not be covered by insurance, and unfortunately there is still a misconception among the medical community they it should only be offered to those of Jewish lineage.  The average person who is not Jewish or may not know of any Jewish heritage will likely not be offered genetic screening for Tay-Sachs, or even know they need it.  Such was the case with our family.

Patrick: Talk to me about daughter, Elliott. Who was she, what was she like, and I apologize in advance if this is painful for you.

Becky: Don’t worry – it’s not.  I love speaking about her and hope it helps others avoid the pain of loss I know all-too-well.  I also work for the National Tay-Sachs and Allied Diseases Association as their Family Services Manager and support families daily.

Patrick: Also, why is it carried by a specific ethnicities at a higher prevalence? type of Jew: Ashkenazi. I was unaware there are different subsets of ethnicities.

Becky: While 1:250 people in the general population may be carriers, French Canadian/Cajun, Irish, and Ashkenazi Jews are all know to have a much higher prevalence (with Ashkenazi Jews being at the highest at up to 1:16).  This is why expanded carrier screening (non-ethnic based screening) is so important: so that everyone knows their carrier status before they find out the hard way.

BeckyAbout Elliott:  When our Miss Elliott was born we already had one healthy daughter.  We were young, healthy, and had planned to expand our family.  We never knew we needed genetic testing, and it was never offered to us.  Unfortunately, shortly after birth we noticed Elliott wasn’t meeting her milestones.  I took her to a total of ten different specialists searching for answers.  One evaluator even wrote on a form, “Baby is fine, mom is overly concerned.”  The baby was not fine, at ten months the ophthalmologist saw the cherry red spots in her eyes (a tell-tale sign of Tay-Sachs) and diagnosed as terminally ill.  Our world very much came crashing down.  The whole time, I thought I was searching for intervention, a way to help her tackle whatever was holding her back.  I never dreamed that not only was there nothing we could do.  The disease was degenerative.  She was going to get worse, and in just three short years we would lose her completely.  We were devastated.

Patrick: Talk to me about JScreen.org… how can we get the word out through this article and interview.

Becky: JScreen works to educate and empower people to have healthy families.  Knowing your carrier status for Tay-Sachs and many other conditions can help you make the most informed choice as you seek to expand your family.  The National Tay-Sachs and Allied Disease Association (NTSAD) also supports carriers and affected families alike from diagnosis, through bereavement.

Patrick: Thank you Becky for your time and I wish you all the best in making the public more aware of Tay-Sachs.

Becky:  Thank you, Patrick.  My goal is to make sure no other family knows the searing pain of child loss due to Tay-Sachs disease.  If I can do anything to prevent that, I feel it’s my duty to help and to continue to make an impact on Miss Elliott’s legacy.

Interview with Emily Goldberg:

Patrick: Thank you for joining us today. Can you start by briefly describing what drew you to the field of genetic counseling?

Emily: Thanks, Patrick! My interest in genetic counseling stems from my genuine passion for both science and healthcare. This unique field not only allows me to delve deep into the scientific intricacies of genetics but also enables me to provide crucial support to my patients. I am drawn to the role because it grants me the opportunity to guide individuals through complex and often emotionally challenging situations, helping them navigate their genetic journey with empathy, expertise, and support.

Patrick: Your academic background is impressive. How do you believe your studies in both biology and psychology at Brandeis University shaped your approach to genetic counseling?

Emily: Thank you! Genetic counseling is a beautiful union between science and patient care. This education provided me with a solid foundation for several aspects of genetic counseling and set me up for success in graduate school and beyond. I was also able to meet several faculty members at Brandeis who continued to inspire me to pursue the field.

Patrick: The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College is renowned in the field. What were some of your key takeaways from the program that you’ve applied in your career?

Emily: Sarah Lawrence College created the first (and remains the largest) genetic counseling program in the country. My studies focused heavily on genetics concepts and medicine, but also how to support patients and their families through education, decision making, and empathy. The program also emphasized the ethical, legal, and social implications of genetic testing and technologies.

Patrick: Being certified by the American Board of Genetic Counseling since 2011 signifies a decade of expertise and experience. What are some of the most profound changes or advancements you’ve observed in genetic counseling over the past decade? Prior to joining JScreen, you worked at Montefiore Medical Center, focusing on prenatal and cancer genetics. How did that experience influence your work with JScreen?

Emily: During my time at Montefiore, I was able to meet with thousands of patients from all different walks of life. Not only was I able to hone my expertise as a genetic counselor, but I was able to connect with so many patients and providers and learn from their experiences. This prepared me for my work at JScreen by reminding me to always consider the perspective of the patient and make the program as effective and patient oriented as possible.  I am so thrilled to be at www.jscreen.org to share my experiences and drive people to get tested.

Patrick: Can you explain the differences or challenges between counseling patients for prenatal genetics compared to cancer genetics?

Emily: Counseling in the prenatal/preconception and cancer genetics roles can be both rewarding and emotionally challenging. In prenatal and preconception counseling, we’re reviewing the possible health risks and future of someone’s child. This comes with a lot of uncertainty, anxiety, hope, and fear. Genetic counselors can help patients navigate the many options for screening and diagnostic testing within the context of their values, feelings, and specific situations. Family planning and pregnancy is a very intense time in someone’s life with very high stakes. This type of counseling requires a lot of expertise, patience, empathy, and understanding.

In the setting of hereditary cancer counseling, individuals are learning about their own personal risks and how this information will inform their health and medical management. This can be very empowering and allow them to take actionable steps to treat, prevent, or screen for cancer. This testing may also elicit strong emotions and anxiety. Additionally, unlike many medical tests, genetic testing is a “family affair” as it also provides information about the risks of other biological relatives which is an important consideration.

Patrick: Education is a prominent theme in your career, both as a professional interest and in your roles as an Instructor and adjunct faculty. What drives your passion for teaching and mentoring the next generation of genetic counselors?

Emily: Guiding students in this field is not only an opportunity to foster their growth but also a way to address the growing demand for genetic counselors. With the field of genetics continually expanding, the need for skilled and compassionate professionals has never been greater. I find teaching very rewarding and feel that it’s refreshing to re-learn genetics through my students. I am also driven by the prospect of equipping future genetic counselors with the skills and compassion they need to make a meaningful difference in the lives of their patients.

Patrick: Speaking of education, how do you feel genetic counseling education has evolved over the years, especially with the rapid advancements in genetic technology and research?

Emily: As genetic testing and technologies have evolved so dramatically in the last several years (and will continue to do so), it is a challenge for programs to stay on top of all new advancements. Genetic education is geared towards giving students a very strong foundation in genetics and empathic counseling, while also equipping them with the skills to continue their learning and professional development and adapt to the inevitable progress of the field.

Patrick: As an adjust faculty member at Sarah Lawrence College, you teach reproductive genetics. What do you hope your students take away from your classes?

Emily: This course focuses on many aspects of reproductive health from preconception through prenatal care. My hope is that my students feel confident in their knowledge and prepared for their clinical rotations and continued patient care.

Patrick: JScreen is at the forefront of preventing genetic diseases. From a counselor’s perspective, how do you approach discussions with potential carriers or affected individuals to ensure they are informed and supported?

Emily: At JScreen, we believe that “knowledge is power.” By learning their genetic status, they can feel armed with the information to make informed decisions and guide next steps. We provide patients with comprehensive and accessible genetic testing and couple that with ongoing support and education. It’s also important for people to realize that there are often actionable steps that can reduce their risks. For example, if a couple learns that they are both carriers of Tay Sachs disease, they have many options for building a healthy family. These can include genetic testing during pregnancy, IVF with preimplantation genetic testing for monogenic diseases (testing embryos for the presence of the condition), using gamete donation, and/or adoption. The genetic counselors at JScreen guide patients through the entire process and review their options based on their specific situation, values, and goals.

Patrick: Lastly, looking into the future, where do you see the field of genetic counseling heading, and what role do you hope to play in shaping that direction?

Emily: While it’s impossible to predict, I anticipate more advancements in personalized and comprehensive genetic testing across many different specialties. Genetic testing will become further integrated into other areas of medicine and genetic counselors will play a crucial role in multidisciplinary healthcare teams. Increased accessibility to genetic testing and services through telehealth (like JScreen) will become a routine part of medical care and will improve access for underserved populations. It will also be vital to continue discussions about the ethical and legal implications of genetic testing and technologies. Genetic counselors are vital for the future because they bridge the gap between complex genetic information and individuals’ understanding, decision-making, and emotional well-being. Their expertise is increasingly important as genetics and genomics continue to advance and play a more prominent role in healthcare and research.

Patrick: Thank you for your time and insights, Emily. It’s been enlightening to delve deeper into the world of genetic counseling with you.

Here’s a good Tay-Sachs Awareness video that was created:
How Tay Sachs Disease Impacted Three Families – YouTube

For more information people can go to www.jscreen.org

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