Authors Note: A Message of gratitude from Ellie, Creator and Author of A Note of Hope.
"I am honoured to share Melissa experience with CADASIL, a rare genetic disease which affects the blood vessels in the brains. Melissa submitted her story in writing via TikTok, after she came across one of our promotional videos.
After nearly two years of working on this project, encountering a condition I’m not familiar with has become a rare occurrence for me. But Melissa’s story introduced me to CADASIL for the first time, and the more I researched the condition for this article, the heavier my heart became at the devastating impact and future prognosis for those diagnosed with it. It’s a burden I can scarcely begin to imagine. However, what resonated with me most was Melissa’s ability to maintain a positive and hopeful outlook amidst her challenges. Her emphasis on her family, especially her children, as a source of inspiration is something I found to be both inspiring and beautiful.
Through Melissa’s story we gain insight into the complexities of living with a rare genetic condition and finding sources of hope and joy whilst facing such an unknown future. I hope her story resonate with you as deeply as it has with me." - Ellie Howe, Creator and Author of A Note of Hope.
"My name is Melissa, I'm currently 23 and live in the UK. Growing up I never really had any medical issues, apart from incredibly painful migraines with auras that would make me feel foggy for a few days after each one."
Melissa, at only 23 years old, is facing a challenging medical reality that has cast a shadow over her future and that of her family. Her journey with CADASIL, an acronym for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, began with painful migraines during her childhood. Little did she know that these migraines were early signs of a genetic condition that would shape her life in unforeseen ways.
CADASIL is a rare genetic disease that affects the blood vessels in the brain and is present in Melissa's family history. According to a report by the National Organisation of Rare Diseases, CADASIL affects approximately 2 to 5 out of 100,000 people worldwide. However, this may be an underestimate as research suggests that the disorder is often undiagnosed or misdiagnosed, making it difficult to determine the actual frequency of CADASIL in the general population.
Melissa's father was diagnosed with CADASIL when she was just 11 years old. If one parent carries the faulty gene, there is a 50% chance that their child will inherit the gene and develop the condition. Melissa decided to undergo testing after becoming a mother at the age of 18. In October 2020, she received a call confirming her fears: she carried the CADASIL mutation.
This news altered the trajectory of Melissa's entire life, as CADASIL is a progressive and debilitating condition for which there is currently no cure. Due to a lack of research and understanding, while some people with CADASIL may be able to manage some of their symptoms, it isn't easy to treat the condition as a whole. Melissa, for instance, manages her symptoms primarily through medication to alleviate her debilitating migraines, but she faces the daunting reality that there is nothing she can currently do to stop her condition from progressing.
Other common symptoms of CADASIL include problems with thinking and memory, weakness, and slurring of speech. However, the hallmark of CADASIL is the development of recurrent ischemic strokes, which are known to cause a variety of neurological symptoms such as weakness or numbness on one side of the body, difficulty speaking or understanding speech, vision problems, and cognitive impairment. Melissa has already experienced two such attacks. However, it is unclear whether she experienced transient ischemic attacks (mini-strokes) or hemiplegic migraines, a rare and severe type of migraine that can cause temporary weakness or paralysis on one side of the body.
"In the future, I can expect early dementia, strokes, Parkinson's, and more...I can't explain how I feel in my day to day with this knowledge hanging over me. Some days it's easier to cope."
CADASIL is a progressive disease, and symptoms can vary widely in severity and onset and the disease tends to worsen over time, with symptoms becoming more frequent and severe with age. Melissa faces each day knowing that her symptoms will worsen, potentially leading to early dementia, strokes, Parkinsonism, seizures, and more. According to the Alzheimers Society UK, around 2 in 3 people who have CADASIL will develop dementia at some point in their lives. Reflecting on this, Melissa bravely admits, "I try to stay positive, but seeing older people with CADASIL shows me what my future may look like, and it is scary." As Melissa's symptoms progress, she faces the possibility of losing her independence and relying on her family for support.
To find out more about CADASIL, click the link below:
CADASIL
CADASIL is a rare, inherited type of vascular disease (a disease of the blood vessels such as arteries and veins). A person who has CADASIL is likely to have a series of mild strokes that can damage their brain tissue, particularly the ‘white matter’ that connects different parts of their brain together. CADASIL can cause a range of symptoms that develop slowly over many years. These include problems with memory and thinking as well as physical and emotional problems.
As a mother of two young children, Melissa carries a heavy burden. She worries about her own health concerns, as well as the possibility of passing the CADASIL genetic mutation on to her daughters. The fear of what their future may hold and the weight of uncertainty are constantly on her mind.
"I now have two beautiful daughters, and I am terrified that I may have passed it on to them both."
The hardest part, Melissa admits, is maintaining a sense of normalcy and positivity for her children while facing an uncertain future herself. It's not an easy task, but she draws strength from her partner, who is her rock and support system through it all. However, living with a condition so rare that most of the world is unaware of its existence presents unique challenges. The complexity and rarity of the condition mean that few people can fully comprehend the daily struggles and profound emotional toll it exacts, and those who can are often few and far between as it is such a small minority of the population. This lack of understanding can lead to feelings of isolation and loneliness, as many individuals with CADASIL may find themselves navigating their journeys alone.
Melissa describes how on her difficult days, she finds solace and inspiration in her family. Particularly in the unwavering love and joy of her two daughters, aged 4 years and 9 months. "When things are tough, I see how amazing my daughters are and give my all for them," Melissa shares. As she navigates the uncertainties of living with CADASIL, Melissa draws strength from her role as a mother, giving her all for the well-being and happiness of her children and remaining as healthy as possible to be there for them.
Additionally, Melissa dreams of becoming an entrepreneur and creating a business that inspires her daughters to achieve their full potential. She believes that her daughters can achieve anything they set their minds to through hard work and dedication. Melissa wants her business to serve as a testament to their potential and to show them just how much they can achieve if they put their hearts into it.
More than anything, Melissa wants her daughters to grow up to be happy and kind. She understands that the prognosis of her medical condition can be overwhelming at times, but she refuses to let that stop her from planning for the future. Melissa shows great courage and strength by continuing to create plans for herself and her family. She believes that with the right mindset, anything is possible.
"When things are particularly tough, I see how amazing my daughters are and tell myself that if I keep myself as healthy as possible, I can be there for as long as they need me."
Melissa understands that CADASIL symptoms and severity can differ significantly among individuals. Despite the uncertainty surrounding her future, she holds onto a sense of hope and optimism. She recognizes that her condition may not necessarily follow the ominous prognosis she fears. Instead, she chooses to embrace the possibility that her future may deviate from what she expects.
"I hope that I am overestimating the future symptoms I'll get," she shares. Melissa's resilience in the face of uncertainty is truly admirable. Even though the future may be uncertain, she remains optimistic and determined to live her life to the fullest. Melissa is a shining example of how hope and positivity can help one overcome even the most challenging of circumstances.
Additionally, she is hopeful that ongoing research will lead to better treatments or even a cure for this rare genetic disorder. Melissa has taken an active role in advancing research by participating in various studies and allowing researchers to use her medical records to further their understanding of CADASIL. She understands that this is a rare condition, and she is willing to do what it takes to help with its discovery and treatment. Until then, she takes each day as it comes, facing the challenges head-on with courage and strength.
Melissa's ability to choose optimism amidst the unknown showcases her remarkable strength of character, serving as a testament to her unwavering determination to persevere despite the challenges she faces.
“I'd say I know you're trying your best and not to be too harsh on yourself. Even though some days are hard, there's always something to look forward to or enjoy.”
Reflecting on her journey, Melissa shared some kind words of advice she wished she could have told her younger self. In doing so, she offers a glimpse into her resilience and compassion that defined both her and her journey. "If I could write a note of hope to my younger self," she said, "I would tell myself that I will eventually find a community of others who understand." Emphasising the importance of seeking connections with others in similar positions, she added, "If you need help, ask for it. Know that there are others who understand what you're going through. You are not alone."
Melissa's advice to her younger self captures the essence of the project: to ensure people never give up hope. She believes it's crucial to maintain a positive attitude and keep moving forward, even when things seem impossible. Melissa learned from her journey that resilience and compassion are essential qualities to cultivate. She believes being kind to oneself and others is crucial for a fulfilling life. Her message is clear: if you're going through a tough time, don't hesitate to seek help and support. Remember that you're not alone, and that there's always hope for a brighter future.
Overall, Melissa's story is a profound reminder that amidst the struggles and uncertainties of life with CADASIL, or any chronic health condition, there is always room for compassion, self-care, and hope.
Thank you Melissa for sharing your inspiring story for the 'A Note of Hope' project.