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Articles by Emily Malcolm
Blood periostin may be key marker for kidney damage in Fabry |... Original
Periostin, a protein associated with kidney injury, may be a valuable biomarker of Fabry disease’s related kidney damage, according to new a study in Turkey. Researchers found that blood levels of periostin were correlated to proteinuria — the presence of proteins in the urine — which is one of the most critical indicators of kidney failure progression.
Galafold may lower Fabry heart changes, boost exercise tolerance |...
In previously untreated Fabry disease patients with heart involvement, 18 months of treatment with Galafold (migalastat) stabilized measures of heart disease and was linked to a trend toward improvement in exercise tolerance, an observational study reported These findings provide “new detailed evidence on the effect of migalastat on FD [Fabry disease] cardiomyopathy [heart disease]”, the researchers wrote.
Study Finds Good Vision in Fabry Patients Despite Eye Changes |...
Despite disease-related eye changes, visual acuity — the sharpness of a person’s vision, with 20/20 denoting perfect clarity of sight — was “good” in children and adults with Fabry disease, a study showed. Eye involvement was not associated with disease severity in adults with Fabry, and overall vision-related quality of life also was reported as good.
NORD’s ‘Living Rare, Living Stronger’ Patient, Family Event on for June 26
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference Center and will feature the 2022 Rare Impact Awards ceremony, which will be presented that evening at the Rock and Roll Hall of Fame. Go here to register.
NORD’s ‘Living Rare, Living Stronger’ Patient, Family Event on for June 26
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference Center and will feature the 2022 Rare Impact Awards ceremony, which will be presented that evening at the Rock and Roll Hall of Fame. Go here to register.
Key IPF Protective Protein Alpha-Klotho Boosted in Mice via Oral Therapy
Oral therapies that kill aging cells were found to boost the levels of alpha-Klotho, a protective protein that declines with age and safeguards animals against age-related diseases — including idiopathic pulmonary fibrosis (IPF) — in a study involving older mice. So-called senolytic therapies are designed to kill aging senescent cells, or those that no longer divide or grow.
My Circles of Friends Have Overlapped During My IPF Journey
by Samuel Kirton | March 15, 2022 Share this article: It’s normal for people to come and go in our life. Our circle of friends changes when we change schools, start a new job, get married or divorced, and have children. Being diagnosed with idiopathic pulmonary fibrosis (IPF) had the same effect on my group of friends. As my IPF progressed, I left my job and went on disability benefits.
Acute Porphyria Linked to Higher Primary Liver Cancer Risk, Study Finds
by Margarida Maia PhD | March 9, 2022 Share this article: Patients with acute porphyria have a higher risk of developing primary liver cancer, a Swedish study has found. Researchers observed that primary liver cancer was 38 times more likely to occur in patients with acute porphyria than in the general population. This risk was even higher for those with active disease who were older than 50 or had been admitted to the hospital for treatment.
Acute Porphyria Linked to Higher Primary Liver Cancer Risk, Study Finds
Patients with acute porphyria have a higher risk of developing primary liver cancer, a Swedish study has found. Researchers observed that primary liver cancer was 38 times more likely to occur in patients with acute porphyria than in the general population. This risk was even higher for those with active disease who were older than 50 or had been admitted to the hospital for treatment.
Circulating DNA May Be Biomarker of Rapidly Progressing IPF: Study
by Marta Figueiredo PhD | January 28, 2022 Share this article: People with rapidly progressing idiopathic pulmonary fibrosis (IPF) have significantly higher levels of circulating cell-free DNA (ccfDNA) than those with slower disease progression and healthy people, a small study shows. In addition, ccfDNA levels, which have been suggested to contribute to IPF, were found to be associated with changes in several metabolic pathways that are known to be affected in people with IPF.
Untreated IPF Linked to 50% Mortality Rate at 3 Years
by Yedida Y Bogachkov PhD | January 5, 2022 Share this article: If left untreated by anti-fibrotic medications, idiopathic pulmonary fibrosis (IPF) has a 50% mortality rate after three years, according to a recent observational study using real-world data. This is compared with a 26–31% mortality rate among IPF patients taking available anti-fibrotics, such as Esbriet (pirfenidone) and Ofev (nintedanib).
Weighing the Pros and Cons of Taking Another Immunosuppressant
by Lori Dunham | November 8, 2021 Share this article: We live only two hours from “The Happiest Place on Earth,” so it’s no surprise that we used to frequent Disney World. Each year, my children would push me to ride bigger and scarier rides. I’m more of a Tilt-A-Whirl kind of girl, but my kids love rides like The Twilight Zone Tower of Terror and the Rock ‘n’ Roller Coaster Starring Aerosmith. I must admit that these rides stretch my limits.
Liver Disease Prevalence in EPP Patients Similar to General Population
The prevalence of advanced liver disease — including fatty liver disease — in patients with erythropoietic protoporphyria (EPP) is similar to that of the general population, according to a new Dutch study. Investigators also noted that the levels of protoporphyrin IX or PPIX, a heme precursor that tends to build up to toxic levels in EPP patients, seem to be associated with liver stiffness and might help assess a person’s risk of developing liver scarring.
Liver Disease Prevalence in EPP Patients Similar to General Population
The prevalence of advanced liver disease — including fatty liver disease — in patients with erythropoietic protoporphyria (EPP) is similar to that of the general population, according to a new Dutch study. Investigators also noted that the levels of protoporphyrin IX or PPIX, a heme precursor that tends to build up to toxic levels in EPP patients, seem to be associated with liver stiffness and might help assess a person’s risk of developing liver scarring.
The Many Challenges of Getting Out
Normally, we live much of our life at home. My husband, Todd, has ALS and is paralyzed. He spends his time in his wheelchair set up at his computer, and I can’t go far in case he needs help. Our traveling days are over, and we can’t visit most people in their homes because they are inaccessible to Todd in his 400-pound power wheelchair. But we had a couple fun events last weekend that were doable. Our friends held their daughter’s graduation party in their yard, and the weather was warm.
I’m Seeking Learning Opportunities as I Expand My Exercise Regimen
by Young Lee | July 20, 2021 Share this article: “No, it’s not really my thing,” I responded to a friend and self-admitted “gym junkie” in college when he offered to show me the ropes in weight training. These days, I regret turning down his offer. If life were a video game, my friend’s offer would have been the tutorial level, meaning I had just skipped an important training stage — an opportunity to learn how to play the game of life. But life is very different from video games.
Raising Awareness of LEMS
Lambert-Eaton myasthenic syndrome (LEMS) is a very rare disease, with researchers estimating it affects about one person in every one million. Like many rare diseases, LEMS could well be underdiagnosed, especially in an aging population. Few physicians are very familiar with the disease, and many may never treat a person with LEMS. As a result, some patients may never know they have this disease.
Raising Awareness of LEMS
Organizations that can help At present, no organization works solely to promote the cause of LEMS, but a number with overlapping interests support research into this disease and have resources of use to those trying to raise awareness. For example, The Myasthenia Gravis Foundation of America has designated June as; myasthenia gravis is a disease with similar symptoms to LEMS.
Firdapse and Ruzurgi to Treat LEMS
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease that affects the neuromuscular junction — the point at which nerve and muscle cells meet. The disease leads to muscle weakness, pain, and fatigue, among other symptoms. With no current cure, LEMS can be treated to alleviate some symptoms, and slow disease progression.
Firdapse and Ruzurgi to Treat LEMS
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease that affects the neuromuscular junction — the point at which nerve and muscle cells meet. The disease leads to muscle weakness, pain, and fatigue, among other symptoms. With no current cure, LEMS can be treated to alleviate some symptoms, and slow disease progression.
How to Make the Most of Our LEMS Forums
Our forums for Lambert-Eaton myasthenic syndrome (LEMS) are now live. If you have LEMS or a loved one with the condition, you may be wondering who these forums are for and how to use them. Here are answers to these questions and some others: Who are the forums for? The forums are designed for LEMS patients and their families and friends. Anyone over age 18 can build a profile and start a conversation. What are the forums for?
Distinguishing LEMS and Carpal Tunnel Syndrome
Many of the symptoms of Lambert-Eaton myasthenic syndrome (LEMS) — notably muscle weakness, pain, and fatigue, as well as tingling in the hands and feet — can be very similar to another condition called carpal tunnel syndrome. It can, therefore, be difficult to distinguish the two conditions. LEMS is a rare autoimmune disease that affects the neuromuscular junction, the point at which nerve and muscle cells meet.
Should My Baby Be Tested for LEMS?
If you or your partner has Lambert-Eaton myasthenic syndrome (LEMS), you may be wondering whether your baby should be tested for this disease. About LEMS LEMS is a rare autoimmune disease in which the body produces autoantibodies that attack the neuromuscular junction — the point at which nerve and muscle cells meet. Although there are genetic factors that can predispose a person to LEMS, there is no known genetic cause. It’s very rare to have multiple cases of LEMS within the same family.
Vaccines and Lambert-Eaton Myasthenic Syndrome (LEMS)
Many patients with an autoimmune disease such as Lambert-Eaton myasthenic syndrome (LEMS) may wonder whether it is safe for them to get vaccines. What are vaccines? Vaccines are treatments that stimulate your immune system to produce antibodies against disease. They usually contain either dead or weakened virus or bacteria, which cannot cause infection. Alternatively, they may contain only a small piece of a virus or bacterium rather than the whole germ.
Medications to Avoid with Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease that primarily affects nerve cells and muscles. The immune system mistakenly attacks a specific component of the nervous system that controls muscle contractions. This results in muscle weakness, among other symptoms. There are some medications that you should not use if you have LEMS, as they can make your symptoms more severe.
Anesthesia and Lambert-Eaton Myasthenic Syndrome (LEMS)
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease that affects the connection between nerve and muscle cells. Patients’ bodies produce antibodies that mistakenly attack this connection, and the muscles grow weak as a result. The abnormalities in nerve signaling mean that patients may have an atypical response to anesthesia. What is anesthesia? Anesthesia medications can either prevent nerve cells from sending pain signals to the brain or render patients completely unconscious.
Clinical Trials for Atypical Hemolytic Uremic Syndrome (aHUS)
Only a few treatment options exist for atypical hemolytic uremic syndrome (aHUS) and there's currently no cure for the disease. One way that patients can help with the development of new and better treatments is by participating in clinical trials. What are clinical trials? Before pharmaceutical companies can market a treatment to patients, regulatory agencies must approve it. In the U.S., this regulatory agency is the Food and Drug Administration (FDA).
Frequently Asked Questions and Answers About Porphyria
Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin. Hemoglobin is the protein that binds oxygen in red blood cells. Due to this inability, porphyrins — chemicals that the body normally uses to make hemoglobin — build up in the body. Following are answers to some frequently asked questions about porphyria. Are all porphyrias the same? No, there are different types of the disease, based on the genetic cause and the symptoms.
Frequently Asked Questions and Answers About Porphyria
Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin. Hemoglobin is the protein that binds oxygen in red blood cells. Due to this inability, porphyrins — chemicals that the body normally uses to make hemoglobin — build up in the body. Following are answers to some frequently asked questions about porphyria. Are all porphyrias the same? No, there are different types of the disease, based on the genetic cause and the symptoms.
Why Should I Be Tested for Cancer if Diagnosed with LEMS?
If you have been diagnosed with Lambert-Eaton myasthenic syndrome (LEMS), a rare autoimmune disease that, among its symptoms, causes muscle weakness, it’s very important you be screened for cancer as soon as possible. Around 60% of LEMS cases are associated with small cell lung cancer (SCLC), a very aggressive type of lung cancer, and LEMS onset can precede a finding of this cancer, especially among older patients. How do doctors diagnose LEMS? Diagnosing LEMS is a multi-step process.
Genetic Counseling for Mitochondrial Disease
255990 Genetic Counseling for Mitochondrial Disease https://bionewsfeeds.com/2020/05/05/genetic-counseling-for-mitochondrial-disease/ If you or a family member have mitochondrial disease, you may benefit from genetic counseling. What is genetic counseling? Genetic counseling gives you information about your risks of inheriting or transmitting a genetic disease. A genetic counselor will take your personal and family medical history.
Pregnancy and Lambert-Eaton myasthenic syndrome
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease characterized by muscle weakness, among other symptoms. It is caused by the production of antibodies that mistakenly attack the point where nerve and muscle cells meet. Can women with LEMS get pregnant? There are no data indicating that women with LEMS cannot get pregnant. However, only a few accounts are known of LEMS patients becoming pregnant.
How Might Mitochondrial Disease Affect My Lifespan?
254538 How Might Mitochondrial Disease Affect My Lifespan? https://bionewsfeeds.com/2020/04/27/how-might-mitochondrial-disease-affect-my-lifespan/ Being diagnosed with a genetic condition like mitochondrial disease can be challenging and frightening, and you may be wondering whether your disease will affect your lifespan. Does mitochondrial disease affect lifespan? The effect mitochondrial disease will have on a patient’s lifespan is difficult to predict.
LEMS and Exercise
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease characterized by the immune system mistakenly attacking the nerve cells that control muscles. The most common symptom of LEMS is muscle weakness that gets worse over time. Health benefits of exercise Regular exercise can help people lose weight and stay healthy. Exercising improves mood and mental health, as well as improving sleep and boosting energy levels.
Building Emotional Resilience When You Have LEMS
Emotional resilience is a term used to describe how people respond to changes in life and their ability to adapt to stressful situations. However, a person being more resilient than another doesn’t mean they don’t experience or feel the stress. Rather, it refers to how quickly they can adapt to crises. If you aren’t as emotionally resilient as you would like to be, the good news is that resilience can be learned by practicing certain patterns of thought and behavior.
Support Networks for EDS
Having a good support network is important for maintaining physical and mental health. Positive support from friends, family, peers, and co-workers can make you more resilient when encountering stress, depression, and anxiety. Although specific studies on support networks in Ehlers-Danlos syndrome (EDS) patient populations have not been done, it is likely that, as with other chronic rare diseases, having a good support network is even more important for patients with EDS. What is a support network?
Importance of Support Networks for Patients with LEMS
Developing and maintaining a good support network is important for physical and mental health. Positive support from friends, family, peers and co-workers can make you more resilient. Although specific studies about support networks among Lambert-Eaton myasthenic syndrome (LEMS) patients have not been done, it is likely that, as with other chronic rare diseases, having a good support network also is important for patients with LEMS. What is a support network?
Travel Tips for People with LEMS
Traveling can be challenging when you have a rare disease like Lambert-Eaton myasthenic syndrome (LEMS). Here are some tips to help you travel safely: Before travel Planning ahead is key to ensuring that everything goes smoothly. Talk with your doctor about the medications you will need, as well as any special measures you should take while traveling. You may need authorization to carry your medication through airport security.
Aquatic Therapy for Children with AADC Deficiency
Children with aromatic L-amino acid decarboxylase (AADC) deficiency generally have muscle weakness, uncontrollable movements, and developmental delays. Physiotherapy can help patients with AADC deficiency improve strength, coordination, balance, and posture. One type of physiotherapy that may be particularly beneficial is aquatic therapy. What is aquatic therapy? Aquatic therapy is physiotherapy that takes place in the water.
Aids and Adaptive Devices for Hand Dexterity for LEMS Patients
If you have Lambert-Eaton myasthenic syndrome (LEMS) you may find that the disease affects your hand dexterity as it progresses. While you can work with a physiotherapist to improve your strength and coordination, you may find that you also need the help of an occupational therapist who can prescribe aids and adaptive devices to help you with hand dexterity.
Breathing Aids for LEMS patients
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease characterized by muscle weakness, among other symptoms. As the disease progresses, some patients may start to experience weakness in the muscles that control breathing, and therefore require breathing aids. Here are some breathing aids that can help those experiencing breathing difficulties: Continuous positive airway pressure machine Continuous positive airway pressure (CPAP) machines are designed to treat sleep apnea.
Augmentative and Alternative Communication Aids for LEMS Patients
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease affecting the nervous system. Patients with LEMS may have difficulty speaking due to weakness in the jaw, throat, and tongue muscles. Speech therapists can help patients develop an exercise routine to strengthen affected muscles and ease communication. In some cases, patients may also need communication aids. What are communication aids? Communication aids are devices that help with communication.
The Spoon Theory for People with LEMS
Many people with Lambert-Eaton myasthenic syndrome (LEMS) speak of experiencing chronic fatigue and pain. They can feel tired and rundown every day, making it hard for them to accomplish even basic daily tasks. If you have LEMS, it can be difficult to explain what your life is like to friends and family, who may not understand the limits placed on your energy supplies. A simple analogy can help. It’s called the spoon theory. What is the spoon theory?
Tips for Dealing With Dry Mouth When You Have LEMS
Dry mouth is a common symptom of Lambert-Eaton myasthenic syndrome (LEMS) — a rare autoimmune disease marked by muscle weakness that starts in the lower limbs. The disease can affect the functioning of the autonomic nervous system, which is involved in saliva production, among other things. If you have dry mouth, discuss available treatments with your physician.
Walking Aids for LEMS Patients
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease characterized by muscle weakness, which usually starts in the feet and ankles — making walking difficult. Stumbling or falling as a result of muscle weakness can be dangerous, especially for older patients. Many LEMS patients work with physical therapists to build muscle strength and maintain flexibility and range of motion for as long as possible.
Managing Bladder Problems Caused by LEMS
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease marked by muscle weakness that starts in the lower limbs. The disease can affect how well the autonomic nervous system — involved in saliva production and bladder and bowel control — works. Although rare, some LEMS patients may have what is known as neurogenic bladder. What is a neurogenic bladder? Neurogenic bladder is the name given to a number of urinary conditions where people lack bladder control.
FAQs About Botox and LEMS
Many people enjoy using treatments that enhance beauty, such as Botox. For others, Botox might be used to ease migraines or treat other medical conditions. However, for patients with Lambert-Eaton myasthenic syndrome (LEMS) and myasthenia gravis, Botox treatments can be very dangerous. What are LEMS and myasthenia gravis? LEMS and myasthenia gravis are both progressive neurological disorders that cause muscle weakness.
Will LEMS Affect my Life Expectancy?
Learning you have a rare disorder like Lambert-Eaton myasthenic syndrome (LEMS) can be frightening. Among the first questions many people have is: How will my lifespan be affected? The answer often isn’t clear-cut. What is life expectancy? Life expectancy is an estimate of how long people will live. That average age is based on their date of birth, where they live, their gender, and a number of other environmental and genetic factors.
Multiple Sclerosis News Today
Multiple sclerosis (MS) is a neurodegenerative disorder in which the immune system mistakenly attacks the protein coating that protects nerve fibers from damage. It is unknown what triggers the immune system’s attack, but many MS treatments are targeted at reducing inflammation to curb the activity of the immune system. Researchers say one factor that may contribute to MS progression is the microbiome â the assorted microorganisms that live in the human digestive tract. What is the microbiome?
Tips for Managing Stress When You Have LEMS
Living with a chronic disease like Lambert-Eaton myasthenic syndrome (LEMS) can be very stressful. You may feel like you’ve lost control over your life after being diagnosed. Here are some tips to help reduce stress, and improve your mental and physical health. Get enough sleep It’s easy to feel overwhelmed when you are exhausted. Try to make sure that you get enough sleep — this might mean going to bed earlier, or making time for a nap during the day.
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