Comprehensive discussion of people living with genetic disorders of varying intensities
By Krishti Banik
Many people assume that genetic disorders affect everyone equally, but they fail to recognize that genetic disorders can affect a person through a varying intensity. However, what’s more interesting is how they live with their disorders!
A common misconception about cystic fibrosis (CF), an inherited genetic disorder that affects the lungs and digestive system, is that most children with it won’t live up to becoming adults. Nevertheless, it is not true and even though there is no cure as of now, your life expectancy is based on how severe your cystic fibrosis is as well as how you handle it. Many adults live into their 30s, with some also living up to their 50s! An example of someone using their disorder as a means to bring awareness to it is Tommy Brophy. He is a college student at the University of Maryland, and he has now begun to independently handle his disorder by keeping up with all the medications and therapies. But most importantly, organizing the “Great Strides” walk for the Cystic Fibrosis Foundation is significant because it is an important factor that allows him to accept his cystic fibrosis and “own it.” On the other hand, the news of 3 month old Brooklyn having CF was an utter shock to Christa, her mom. CF affects children much differently than adults and Christa and her husband had to adapt to new routines, such as feeding their daughter enzymes and engaging in chest physical therapy. However, Christa and Ray are finding ways to adapt to it and they feel that once there’s a routine, everything starts to become okay.
Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism that results in increased LDL (low-density lipoprotein) cholesterol levels. This can potentially lead to increased risks for having a heart attack or premature cardiovascular diseases. FH is particularly a disorder that is passed down through families. This disorder has two types which are the heterozygous FH and homozygous FH. Heterozygous FH is the more common type of this disorder where there is very high LDL cholesterol and there is a family history of high cholesterol, stroke, or heart disease. Homozygous FH, however, is when both of an individual’s parents have this disorder and the individual has 2 FH genes. Mutations in the APOB, LDLR, PCSK9, OR LDLRAP1 cause this disorder however, mutations in the LDLR gene are the most common since it provides instructions for creating a protein called a LDL receptor. A perspective on FH comes from Cat Davis Ahmed, who is the director of the Outreach for the FH Foundation. She has FH and inherited that gene from her father. She found out that she had FH when she was in high school and her cholesterol numbers have always been in the mid-300s. Ms. Ahmed and her sisters are taking statins and ezetimibe treatment and it is working well for her family.
Thalassemia is an inherited blood disorder that entails less red blood cells and hemoglobin being produced in the body. A perspective on Thalassemia comes from Eashani Ghosh, who is a 15 year-old that deals with this disorder. She explains how it “felt uncomfortable explaining to her teachers and classmates about why she must often miss school classes or activities in order to receive the regular blood transfusions that are a major part of her treatment for thalassemia.” But, she’s learnt to accept it as something that doesn’t define her and instead, she started “Connect THAL.” This group helps bring awareness to thalassemia and she aims to connect teenagers who have this disorder so they can talk about their “stressful teenage high school life” and how thalassemia plays a factor in that. On the other hand, Yasmeen Anis was diagnosed with a more severe form of thalassemia and without the regular blood transfusions, she feels “tired and weak” and goes so far as to say that her “survival” depends on them. She also understands that if the iron from the blood transfusions builds up in her body, then she could experience other “complications such as heart failure or liver cirrhosis.” Thalassemia affected all parts of her life, all the way from college to her career. She needed resources that could help her find the right care for her condition and distance wasn’t her friend. So, she looked for other ways to adapt, such as finding good hematologists that could help guide her through her journey. Overall, she is much more satisfied in her life because she has learnt to open up about her needs and she is able to get the right care she deserves.
References:
Ahmed, C. D. (2020, February 13). Living with familial hypercholesterolemia. Family Heart Foundation. https://familyheart.org/living-with-familial-hypercholesterolemia
Centers for Disease Control and Prevention. (2023, April 24). Real stories from people living with thalassemia. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/thalassemia/stories.html
Centers for Disease Control and Prevention. (2022, April 29). Real stories from people living with thalassemia - yasmeen anis. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/thalassemia/stories/yasmeen.html
Myths about cystic fibrosis: Aruma. Aruma Disability Services. (2019, July 15). https://www.aruma.com.au/about-us/blog/myths-about-cystic-fibrosis/
The Children’s Hospital of Philadelphia. (2017, May 23). Cystic fibrosis: Tommy’s story. Children’s Hospital of Philadelphia. https://www.chop.edu/stories/cystic-fibrosis-tommy-s-story
The Children’s Hospital of Philadelphia. (2018, March 20). Cystic fibrosis: Brooklyn’s story. Children’s Hospital of Philadelphia. https://www.chop.edu/stories/cystic-fibrosis-brooklyns-story
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