Tag: genetic disease

Family Stories of Tay-Sachs Disease

The Cure Tay-Sachs Foundation website contains many resources including information about the disease, carrier statistics, family stories, research initiatives, and fundraising opportunities. Tay-Sachs disease is a rare, fatal genetic condition that destroys nerve cells in the brain and spinal cord primarily in babies and young children. It has a history of affecting people of Ashkenazi Jewish descent but now is seen in other ethnic backgrounds. If you click on the “family stories” tab, you can view over twenty personal narratives of children who were diagnosed with Tay-Sachs, often written by parents. The stories are divided into three short sections documenting the journeys from when they first realized something was wrong, how the illness progressed, and what the family’s ultimate decision was in how to handle it. One of the stories is told from the perspective of an adult with late onset Tay-Sachs as well as bipolar disorder, and she describes the experience of dealing with both conditions simultaneously. Another feature of this website to explore is the “drawings of our kids” tab. You can click on any of over fifty names to see an original drawing of children who have died from Tay-Sachs, all drawn by one of the grandfather of one of the children. The family stories would be a very impactful reading assignment in a course about genetic diseases to increase awareness about the many different ways the same disease can affect individuals and families. It could also fit into a bioethics course to prompt discussions or even essays on if/when it is ethical to stop providing treatment and medical intervention for a patient who has a terminal illness with serious impacts on quality of life for the patient and family.

The Boy in the Moon: A Father’s Journey to Understand His Extraordinary Son

“The Boy in the Moon: A Father’s Journey to Understand His Extraordinary Son” by Ian Brown is a deeply personal memoir that chronicles the author’s experiences with raising his son, Walker, who was born with a rare genetic disorder called Cardiofaciocutaneous Syndrome, or CFC. The book explores the challenges, joys, and complexities of caring for a child with special needs. He explains that his son sometimes feels like the man in the moon, and he knows there is no man there. This book chronicles his exploration of why his son, then, feels so important to him. He explains how deeply he wants to know his son’s thoughts, but this question always brings him back to what goes on in his own head. Specifically, he brings up issues of the child he thought he would have had, what a normal childhood looks like, what a normal parenthood looks like, and the grief (and joys) of having a child who is not like other people. He explores, too, how amazing and perspective-changing it can be to love someone who has unique medical needs and functionality. He feels very thankful for his life with his child, despite the challenges. Brown shares the intimate details of their life, discussing the impact of Walker’s condition on daily routines, relationships, and perspectives on parenthood. He discusses how he spends much more time with his child, and contemplates the fact that Walker cannot be independent or grow into independence like other children. He learns that love and parenthood is unconditional, and how to love someone who can’t form relationships the same ways as many people do. The narrative delves into the medical aspects of CFC, as well, spreading awareness about this disorder. As Brown grapples with the emotional and practical aspects of caring for Walker, he also reflects on the broader themes of disability, acceptance, illness, and what it means to be a father.

This memoir could be used in a class interested in discussing the implications of illness and disability for a family. It addresses the complexities at home caretaking and a rare condition, making it a good book to read for students wanting to understand home care and disability in childhood. Classes hoping to engage with first-person narratives addressing childhood illness could also use this book as an example of a caretaker’s narrative. With this, individual chapters of this book could be used to explore the questions this story raises. Brown’s writings, at any point in the story, could be discussed and used in a class discussion.

Living with Huntington’s Disease

This is a five-minute video narrated by a 46 year old woman who acts as an in-home caregiver for her father, who has Huntington’s disease, a terminal genetic disease that children have a 50% chance of inheriting from their parents. She describes the disease as “having Alzheimer’s, Parkinson’s, and ALS all together.” Panning from the bedroom to the kitchen, the video follows this woman throughout routine moments of taking care of her dad, such as getting him out of bed and feeding him. In between clips, statistics and factual information about Huntington’s are flashed on the screen. Recently, she found out she had the gene and is beginning to get symptoms herself, but is in a clinical trial for a drug. This is a very moving, emotionally impactful video that also provides a lot of basic information about what it is like to live with Huntington’s and take care of someone who has it. It is rare to find such a nuanced blend of the emotional and the informational, as well as a perspective of a person taking care of someone with the very same disease, just at different stages. It would be useful to play for discussion material in a class about genetic diseases or family members who act as caregivers or in a discussion about how personal narrative and statistical information can be combined to communicate a message. It could also be used as an example video in an assignment for students to create narratively infused informational interview videos about a certain disease.