understanding Wilson’s Disease: A Rare genetic Disorder
Table of Contents
Table of Contents
what is Wilson’s Disease?
Wilson’s disease, Valeria explains, is a ”genetic disorder characterized by a toxic accumulation of copper in the body, notably in the liver and brain.” While treatable, left unmanaged,the disease can lead to serious complications,including liver damage (ranging from hepatitis and jaundice to cirrhosis and liver failure) and neurological problems such as tremors,speech disorders,behavioral changes,and involuntary movements.Treatment and the Search for a Cure
Fortunately, treatments are available.The most common approach involves copper chelators – molecules that bind to copper and help the body eliminate it through urine or feces. However, thes treatments can be challenging to manage and may cause side effects, underscoring the need for continued research. valeria emphasizes the importance of research into “conclusive therapies,” treatments that can offer a permanent solution and benefit all patients. “This is why research is so vital,” she states. Valeria’s story highlights the impact of rare diseases like Wilson’s disease and the importance of ongoing research. A Life Altered by Wilson’s Disease
My journey with Wilson’s disease began unknowingly.It’s a treacherous illness, often silent and asymptomatic until the organs bear the brunt of its damage, leaving behind irreversible scars. At nine years old, a bout of mononucleosis unexpectedly unveiled my hidden diagnosis. My liver,already ravaged by a buildup of toxic copper,was cirrhotic,yet I felt no pain. While my liver had taken a hit, the disease could also attack the brain and nervous system, potentially causing lifelong consequences. Thankfully, treatment commenced immediately. Medications helped control the disease, but they became a lifelong companion. At 18, a rare complication known as fulminant hepatitis struck.internal bleeding thrust me toward a kidney transplant, a lifeline that I received on July 28, 2006. The surgery was a turning point, granting me a new lease on life. “If I’d waited just a few more days, I likely wouldn’t be here today,” I reflect.Sometimes, fate smiles upon you in surprising ways.Facing a Recurring Challenge
Although my health had improved, my battle with Wilson’s disease wasn’t over. My son, Mattia, became a testament to this reality, a bittersweet miracle in our lives. My husband,Andrea,whom I met shortly before my transplant,and I,had spent three years yearning for a child,undeterred by the odds stacked against us. “Wilson’s disease is inherited in an autosomal recessive manner,” I explain. “Both parents must be carriers of the mutated gene for a child to have a 25% chance of inheriting the disease.While meeting a healthy carrier was improbable, even then, there’s a 50% chance they woudl pass on the mutated gene.” And fate had its own plan. Andrea was later found to carry a mutated gene, not for Wilson’s disease itself, but for a related condition. At two and a half years old, Mattia was diagnosed with Wilson’s disease. I had previously undergone genetic mapping, which fortunately allowed us to identify this early.## Understanding wilson’s Disease: A Q&A wiht Valeria Noce
**Q:** Valeria, thank you for speaking with us today. Can you tell us what Wilson’s disease is?
**A:** It’s a genetic disorder that causes a toxic buildup of copper in your body, primarily affecting your liver and brain.
**Q:** What kind of complications can arise from Wilson’s disease if it’s left untreated?
**A:** Untreated Wilson’s disease can lead to serious liver problems like hepatitis, jaundice, cirrhosis, and even liver failure.It can also cause neurological issues such as tremors, speech difficulties, behavioral changes, and involuntary movements.
**Q:** You were diagnosed with Wilson’s disease at a young age. What was that experience like?
**A:** I was only nine years old. It was actually discovered during a bout of mononucleosis.My liver was already severely damaged by the copper buildup, but I hadn’t felt any pain. This highlights how silent and dangerous Wilson’s disease can be.
**Q:** Did your diagnosis considerably impact your life?
**A:** Absolutely. Treatment started immediately with medications to manage the disease. These medications became part of my daily routine, but at 18, I experienced a rare complication – fulminant hepatitis. It led to internal bleeding and I needed a life-saving kidney transplant.
**Q:** That must have been incredibly difficult. What happened next?
**A:** The transplant was a turning point for me,giving me a new chance at life. It’s a reminder that medicine can be truly remarkable, and sometimes, we get a second chance.
**Q:** You mentioned medications. Are there long-term solutions for Wilson’s disease?
**A:** Current treatments focus on removing copper from the body using chelators. While effective, they can have side effects and require lifelong management. This is why research into conclusive therapies, which offer permanent solutions, is crucial.
**Q:** You mentioned a personal connection to someone else with Wilson’s disease. Could you tell us about that?
**A:** My son,Mattia,was diagnosed with wilson’s disease at two and a half years old.
**Q:** That must have been incredibly challenging.
**A:** It was. While the odds of this happening were very low, it did. It underscores the complex genetics of the disease and the importance of early detection.
**Q:** What is your message to others living with Wilson’s disease or those who know someone who is?
**A:** I want to emphasize the importance of awareness, early diagnosis, and ongoing research. Wilson’s disease is treatable, and with knowledge and support, individuals can live fulfilling lives. It’s a rare disease, but it’s impactful, and we need to keep talking about it.
**Q:** Valeria, thank you for speaking with us today. Can you tell us what Wilson’s disease is?
**A:** Wilson’s disease is a genetic disorder where copper builds up in your body, especially in the liver and brain. It’s treatable,but if it’s not managed,it can cause serious problems,like liver damage and neurological issues.
**Q:** What are some symptoms of wilson’s disease?
**A:** Often there are no symptoms until the disease has already caused some damage.That’s why it’s called a “silent” illness. Some people might experience things like fatigue, jaundice, difficulty speaking, tremors, or changes in behaviour.
**Q:** How is Wilson’s disease treated?
**A:** Medications called copper chelators help the body get rid of excess copper. there are side effects with these medications, though,
so research is ongoing to find better, more permanent solutions.
**Q:** You were diagnosed with Wilson’s disease at a young age, correct?
**A:** Yes, I was nine years old when I was diagnosed. I had mononucleosis,and that’s how they discovered my liver was
seriously damaged from the copper buildup.
**Q:** And your son, Mattia, was diagnosed with Wilson’s disease as well?
**A:** Sadly, yes. There was a very low chance of that happening, but it did.
**Q:** What advice would you give to someone who has just been diagnosed with Wilson’s disease?
**A:** It’s critically important to learn everything you can about the disease. Find a good doctor who specializes in Wilson’s
disease and follow thier treatment plan carefully. Connecting with other people who have Wilson’s disease can also be very helpful. Remember,
you are not alone.
