It is truly a heart-wrenching tale of resilience and strength. Celia Chartres-Aris opens up about her battle with Loeys-Dietz syndrome, a rare genetic condition that has left her unable to eat or drink for the past four years. Her incredible journey sheds light on the challenges faced by individuals living with this debilitating condition.
Celia was born with Loeys-Dietz syndrome, a degenerative and life-shortening condition that affects the connective tissue in the body. This means that all of her organs, muscles, tendons, and bones are either undeveloped or failing. As a result, Celia experiences excruciating pain, limited mobility, and multiple health complications. Currently, in her mid-20s, the condition has left her unable to eat or drink for the last four years. She now receives all nutrients, including fat and calories, intravenously each day. (1)
Living with Loeys-Dietz Syndrome
The symptoms and effects of Loeys-Dietz syndrome can vary from person to person. Celia describes how her daily life is a constant struggle, with every day presenting different challenges. There are times when she can barely get out of bed due to severe pain, while other days she can manage to work from home and enjoy time with loved ones. However, her condition forces her to stop all activities by 4 pm, as she needs to connect herself to an infusion that provides vital nutrients and support for her failing immune system and organs.
“Every day is different,” Celia wrote in a piece for Metro UK. “Sometimes I have to crawl back into my bed from sheer pain after an hour or so of being up. Other times, on a good day, I can work from home, spend time with friends and family, and use the little energy I have trying to do things I love.”
@celia.chartresaris My name is Celia. And this is my story. A huge thank you to the team at @Truly Show (especially Tom and Georgia) and Born Different for providing me a safe space to share my story, raise awareness and educate others ❤️. #Documentary #Disabled #Disability #Power100 #DemandTheChange #Neurodiversity #MentalHealth #feedingtubeawareness #DisabilityTikTok #DisabledTikTok #DisabilityAwareness #TPN #loeysdietzsyndrome #marfansyndrome ♬ original sound – Celia Chartres-Aris
The Impact on Eating and Drinking
One of the most devastating aspects of Loeys-Dietz syndrome for Celia is her inability to eat or drink. Due to her weakened digestive system and the degenerative nature of the condition, she relies on a form of nutrition called Total Parenteral Nutrition (TPN). Through a permanent line directly into her bloodstream, Celia receives all the necessary calories and nutrients to sustain her body. It has been four years since she last had anything to eat or drink, a challenging aspect she continues to navigate.
“Everything I do in my life, from holidays to work, is restricted by the way I have to nourish myself. Everyday I feel the burden, the extra planning,” she explained. “You don’t realize how much eating and drinking dominates social interactions unless you can’t do these things, and navigating life without them is unimaginably hard.”
@celia.chartresaris This is my Hickman. What on earth is that a that? What does it do? How does it work? What do you use it for? All questions I get asked regularly. So I thought I’d walk you through it, in the hope of raising awareness and showing others that some of us live a little bit differently. @Dr Karan Raj #hickmancentralline #Disabled #Representation #Disability #DisabilityTikTok #DisabilityTikTok #feedingtubeawareness #totalparenteralnutrition #feedingtubechange #invisibleillness ♬ Cool Kids (our sped up version) – Echosmith
Growing up, Celia recalls that she suffered from countless broken and dislocated bones. After her injury-riddled childhood, things only went further downhill as a teenager. Her heart began failing, and she required many surgeries. She struggled to keep food down and vomited multiple times per day. She was in university when she received her first feeding tube. Her condition forced her to complete her studies at home and in hospital rather than at school with her peers. Finally, one day, her stomach stopped accepting the tube feedings as her digestive system was too weak. It was after this, just as she was completing her studies that they began the TPN feedings. She has not had a thing to eat or drink since then.
“It’s a rollercoaster of emotions with my feeding tube. I can’t deny there’s an overwhelming feeling of sadness that does hold me back. I am also aware, my feeding tube is what is keeping me alive,” she explains the emotional toll of her condition. “A future without food and drink is far, far better than no future at all.”
Understanding Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a rare genetic disorder that affects the connective tissue in the body. It is caused by mutations in genes that play a role in the signaling pathways of transforming growth factor-beta (TGF-beta). This results in the formation of weak or abnormal connective tissue, leading to various complications throughout the body. (2)
Diagnosing Loeys-Dietz syndrome can be challenging, as its symptoms may overlap with other conditions. It typically involves a comprehensive evaluation of a patient’s medical history, physical examination, and genetic testing. Doctors often focus on identifying characteristic features such as aortic aneurysms or dissections, skeletal abnormalities, and facial characteristics associated with the syndrome.
Effects on the Body
Loeys-Dietz syndrome affects numerous systems in the body. One of the most common and dangerous complications involves the cardiovascular system, with individuals being prone to aortic aneurysms, arterial tortuosity, and dissections. Skeletal abnormalities, such as scoliosis and joint laxity, are also common. Additionally, individuals may experience craniofacial features such as a cleft palate, hypertelorism, and a bifid uvula.
The life expectancy of individuals with Loeys-Dietz syndrome varies depending on the severity of the symptoms and medical management. With proper monitoring, regular check-ups, and appropriate treatment, many people can live fulfilling lives despite the challenges posed by the condition. However, the presence of severe cardiovascular complications can significantly impact life expectancy.
While there is no cure for Loeys-Dietz syndrome, the management of the condition focuses on minimizing its complications, monitoring aortic health, and supporting overall health. Treatment options may include regular cardiovascular follow-ups, medication to manage blood pressure, surgical interventions for aortic aneurysms, and physiotherapy to address musculoskeletal issues. Genetic counseling is also crucial to help individuals understand the risks of passing the condition on to their children.
The Bottom Line
Celia Chartres-Aris’ story of living with Loeys-Dietz syndrome shines a light on the challenges faced by individuals battling this rare genetic condition. Through her strength and determination, she continues to inspire others, emphasizing the importance of support, empathy, and understanding. While Loeys-Dietz syndrome poses many obstacles, ongoing research and medical advancements provide hope for improved management strategies and a better quality of life for those affected.