by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist, ThinkGenetic
Welcome to ThinkGenetic’s first genetic book spotlight!
Starting this month we will be pairing a review of one or more books focusing on a specific genetic condition while providing general information about that condition during its awareness month. The first book in our series comes from our very own Dawn Laney, Chief Genetics Officer for ThinkGenetic, Inc. Her book, “Can I Play if I Have Fabry,” provides information about Fabry disease in an easy to understand format for children.
What is Fabry Disease?
Fabry disease is a pan-ethnic progressive genetic condition that impacts the eyes, skin, nerves, kidneys, heart, stomach, intestines, and other key body systems. Fabry disease affects both men and women. Fabry disease occurs when an individual has a disease-causing change or mutation in the GLA gene. This results in the body making too little of a specific enzyme called alpha-galactosidase A. If there is not enough of this enzyme, then the body is unable to break down certain large molecules such as globotriaosylceramide (GL-3). These molecules build up in the cells that form blood vessels and other parts of the body. This build up narrows the blood vessels, interferes with cell function, and causes cells to send out distress signals to the immune system leading to inflammation and cell death. Fabry disease health issues can start at any age but based on the timing of when symptoms begin and the combination of the medical issues it is divided into 2 types: Classic Fabry disease and non-classic or later onset Fabry disease. 1
April is Fabry Disease Awareness Month!
Early detection and treatment can change the lives of those affected by Fabry disease. Visit the National Fabry Disease Foundation (NFDF) at https://www.fabrydisease.org/ for more information about the condition as well as information on how to get involved. For example, NFDF is hosting a webinar series in 2021 for both US and non-US attendees covering a range of content including therapy updates, the genetics of Fabry disease, information on how Fabry affects different organ systems and many more. NFDF will also be sharing information daily via Twitter, Facebook and their own newsletter throughout the month of April. In addition, the Fabry Support and Information Group (FSIG) at http://fabry.org is holding their annual expert conference over the weekend of 4/9/21. Talk to your doctor about any information presented and with any questions you may have about your family’s care.
About “Can I Play if I Have Fabry”
Written in the second person, Laney’s book speaks directly to a child affected by Fabry disease. It talks about both how someone is diagnosed with Fabry disease through newborn screening, what Fabry disease is, and also reviews some symptoms of Fabry disease that would be important for a child to let their parents know about. Most importantly, this book emphasizes that children with Fabry disease are also like any other child. They can go to school, play with friends, and have fun! It also emphasizes the importance of children going to their parents with any questions they have about Fabry disease, just like they would with other questions.
Laney’s book also provides general information about Fabry disease for adults and lists some resources that may be helpful to families. Please note that Laney’s book and included references are not a substitute for medical advice. Talk to your doctor about any information presented and with any questions you may have about your family’s care.
Ways to Start Conversations About Fabry With Your Own Family
Laney’s book does a great job of letting children know that it’s ok to go to parents with questions about Fabry disease. But if you or someone you love has Fabry disease, you know that it can sometimes be difficult to talk to children about your family’s condition. As a parent you may wonder when the best time to talk to your child about Fabry disease is, or how to expand those conversations as they grow and begin to ask questions of their own. I’d encourage you to talk to your child’s doctor and genetic counselor about how to engage in age appropriate conversations about Fabry disease, and maybe give Laney’s book or similar books a look to see if they would be helpful to your family.
Many parents don’t want to overwhelm their children with too much information, but in clinics we often have to remind parents that children may be more aware of what’s going on that they think. Making sure your children know that you are open to answering questions can help them take some control of their own stories, which may make them more comfortable sharing with friends and family as well. Some strategies to starting this conversation could include asking children to explain what Fabry means to them, asking them to describe how they would talk about their condition to their friends if asked, and asking if they feel comfortable coming to you with questions. Depending on the child, they may be more or less open to engaging in these conversations, but at least they will know that you are available if and when they do have questions. And again, your doctor and genetic counselor are there to help!
1 Fabry disease – ThinkGenetic: ThinkGenetic. (n.d.). Retrieved April 8, 2021, from https://www.thinkgenetic.
About Jessica Dronen, MS, LCGC. Jessica is a Genetic Diseases Research and Information Specialist for ThinkGenetic, Inc. She received her Master of Science in the field of Genetic Counseling at the University of Oklahoma Health Sciences Center in 2016. She has worked with both pediatric and adult patients in a variety of areas. Away from work Jessica enjoys reading memoirs, making music and spending time outside with her family.