“Why is this happening to me?” A question no parent wants to hear. But for a family in Norco, California, the search for a solution is a daily battle. When both of their young boys were diagnosed with Duchenne muscular dystrophy, it was a heartbreaking prognosis. But every day since, they’ve worked tirelessly to make their children’s lives full of joy and wonder. And with CureDuchenne, they’re getting the support and resources they need to give their kids a brighter future.
Both the boys of the Albaugh family are affected by Duchenne.
As you grow older, you will need to think about where you will receive adult Duchenne care. You should start to develop a plan to transition from your pediatric doctors to adult doctors around the age of 14 – most people move to adult doctors around age 18. Your pediatric doctors will help you to find adult doctors that can provide neuromuscular care as well as care for your heart, lungs, bones and the rest of your body.
Doctors also help to provide guidance for financial, medical and personal assistance. An emergency care plan is very important for the patient to handle an emergency situation.
The world is celebrating World Duchenne Awareness Day on September 7. At this special and important day, an international conference is held in Amsterdam, The Netherlands. During this Duchenne Care Conference, clinicians from all over the world speak about the latest Standards of Care. In this video Jarod Wong gives a presentation about bone health.
Jack Wolf, a teenager impacted by Duchenne muscular dystrophy, writes a letter to his mom and dad about the challenges living with Duchenne. The video features his accomplishments and the challenges he faces. Jack shares his gratitude to his parents for all their support through his journey with Duchenne.
Speaking straight from the heart, a 18-year-old from Concord, North Carolina, Bryson Foster, a two times National Ambassador of Muscular Dystrophy Association (MDA), treats every day as a blessing as he lives with Duchenne Muscular Dystrophy (DMD), and shares his struggles and hopes in a heartfelt video to inspire others. Life for Bryson and his parents Phil and Claire Foster, has been hard, but he has a strength greater than most.
The video explains the basics of insurance particularly the health insurance and its various types. Health insurance is a way to pay for healthcare which protects individuals from paying the full costs of their medical services. Individuals choose a plan with defined benefits and pays premium on a defined basis. The video also explains various laws and acts and how they affect the health insurance in general.
This brief animation video explains the mechanism, progression and genetic basis of Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy is a fatal, genetic neuromuscular disease caused by mutation in dystrophin encoding gene which affects 1 in 3500-5000 newborn boys. It causes early developmental delays and ultimately boys succumb to death due to respiratory or cardiac arrest in their mid twenties.
In order to deliver microdystrophin, we use a virus called AAV. This is a virus that does not cause human disease. It is isolated to specifically be able to target muscles. The virus is used as a delivery vehicle to target muscles in the entire body. Through an intravenous route, it goes into the arm and then everywhere in the muscles.
Most commonly, DMD is caused by deletion of one or more exons from the dystrophin gene resulting in a shift in the frame. By skipping an additional exon in the pre mRNA, it is possible to re-align the remaining exons and restore the frame.
The CRISPR-Cas9 system has revolutionised gene-editing, but cutting DNA isn’t all it can do. From turning gene expression on and off to fluorescently tagging particular sequences, this animation explores some of the exciting possibilities of CRISPR.
This brief animation illustrates the basics of AAV gene transfer technology. AAV based delivery systems can be administered by intravenous drip or direct injection to target tissues. These are ideal carriers for gene transfer as they do not cause disease and are capable of affecting both dividing and non-dividing cells.
Debrah Miller talks about her close relationship with the illness (Duchenne muscular dystrophy) and how she has taken an unconventional route to help people in need. She works very closely to cure Duchenne.
Steve Wilton has developed a new class of drug treatments for genetic diseases. This revolutionary treatment is now relieving the debilitating effects of Duchenne muscular dystrophy.
Steve Wilton's research focus is Duchenne muscular dystrophy (DMD). His insight has led to an innovative drug therapy which promises to revolutionize treatments of DMD and other genetic diseases.
Muscular dystrophy occurs when damaged muscle tissue is replaced with fibrous, fatty or bony tissue and loses function. For years, scientists have searched for a way to successfully treat the most common form of the disease, Duchenne muscular dystrophy (DMD), which primarily affects boys. Now, a team of University of Missouri researchers have successfully treated dogs with DMD and say that human clinical trials are being planned in the next few years.
Dr. Eric Olson, University of Texas Southwestern Medical Center, discussed his CRISPR/Cas9 gene editing research at a CureDuchenne Cares workshop in Dallas. This is an approach that enables us to identify even a single letter mutation in the DNA to correct that mutation. He talks about how this technique can be applied to Duchenne muscular dystrophy.
Early recognition of the obvious signs of Duchenne Muscular Dystrophy is the best instrument we have at the moment for early diagnosis. Delayed gross motor milestones, gower’s sign, bog calf muscles and delayed speech should raise a red flag and be followed up by a CK test as soon as possible.
Dr. Kathryn Wagner, Associate Professor in the Department of Neurology and a foremost expert in muscular dystrophy, talks about general progress toward the development of therapies for muscular dystrophy.
Jack Wolf is living with Duchenne Muscular Dystrophy (DMD), a genetic and neuromuscular disease which makes hard for him to do daily life activities even walking. He was diagnosed with DMD when he was five years old. There is no curative therapy for DMD out in the market yet.
Jack has joined his school marching band and will march with band while sitting in wheelchair. It took him lot of practice to play the instrument and control the wheelchair at the same time while marching.
In the summer of 2017, Duchenne UK launched its first patient survey, to better understand patient views on accessing clinical trials and research. The survey is part of their community engagement work to better understand what patients and caregivers want from care, research and clinical trials. Here is the video to understand the survey results.
Jean L Mah, MD, of the University of Calgary talks about the history, pathogenesis, treatment, and standard of care for boys with Duchenne muscular dystrophy. This symposium was filmed at the Child Neurology Society annual meeting in Vancouver, Canada on October 28, 2016.
People, who have some disability particularly muscular dystrophy, have questions and queries related to dating online through social media. A “dating coach on wheels” shares his experience and his thoughts related to online dating through Facebook, Ok-Cupid, Tinder, etc. He tells people to accept who they are and find someone who is ready to accept the “with the wheel chair” whether online or offline.
The picture displays assessments in ambulatory, non-ambulatory and late ambulatory stages. Also, interventions are discussed for the three stages that define a required treatment program during each stage.
Justin DeCross was able to gaduate despite being a Duchenne Muscular Dystrophy patient. He is explaining his feelings and experiences about being on wheelchair and attending the college. His parents are very thankful to the doctors and other healthcare professionals at UR Medicine, who are involved in treatment of Justin. After graduation Justin is currently employed as an independent contractor doing solid modeling.
Professor Dame Kay Davies in conversation with Professor Denis Noble at University of Oxford explaining Duchenne muscular dystrophy and her ground breaking research discovery of Utrophin up regulation as a treatment approach for DMD. She is talking how she was able to treat DMD in mouse model and how it can be translated into humans as cure.
James Raffone, Founder and CEO of JAR of Hope talks about the struggles in raising a boy with Duchenne muscular dystrophy.
As James explains in this video, it is heartbreaking as a parent to watch your son slowly deteriorate while be frustrated by the lack of treatment options.
Dr. laura Bachrach focuses on pediatric diabetes and pediatric endocrinology and has been with the Lucile Packard Children's Hospital and Stanford Medical Center for 28 years. Her research interests are directed at the process of bone mineral acquisition during childhood in healthy young people and patients with disorders that place them at risk for premature osteoporosis. In this video, she discusses why bone health matters and what are the threats and possible management strategies for people with DMD.
Jon Hastie has Duchenne – a severe form of Muscular Dystrophy typified by rapid, progressive muscle degeneration. Jon has lived a comparatively good life and now decides to travel around the UK and Holland to visit a number of amazing Duchenners who have carved out remarkable lives for themselves despite this most crippling of disabilities.The film is more than an inspiring encouragement to a younger Duchenne generation and their parents, it affirms – for all of us – that life is to be treasured and lived to the full.
Duchenne muscular dystrophy affects the body in different ways. It is caused by a genetic mutation that leads to lack of a muscle protein called dystrophin. This causes muscle weakness particularly in legs and arms, which ultimately results in loss of mobility. Muscles in the heart and respiratory system may also be affected, which makes people with the disorder more susceptible to complications like infections or heart failure. Bones may become brittle and weak as the disease progresses.
Clay Matthews from the Green Bay Packers is proud to support CureDuchenne in their mission to find a cure for Duchenne muscular dystrophy. The FDA granted accelerated approval to Sarepta for the first drug for Duchenne muscular dystrophy. CureDuchenne provided early funding to Sarepta that helped the company move into human clinical trials.
The Crosbie lab at UCLA is focussed on key Duchenne research. Dr. Crosbie-Watson has made a significant contribution to the world of Duchenne and her students will go on to change the outlook for boys and young men with the Duchenne.
This is a movie about a little boy with Duchenne Muscular Dystrophy. DMD has no treatment and no cure. It is terminal and progressive. Jordan Pollak created this beautiful film to help bring awareness of Duchenne as well as honor Christopher Callahan and his family as they work to make sure that Christopher's days are filled with love for life and for each other.
If you have never been seen by a pulmonologist, you may not know what to expect during your visit. This video explains what will happen during your visit and what to expect especially when you have Duchenne Muscular Dystrophy.
Ryan Benton is the first patient in the United States to receive human umbilical cord-derived mesenchymal stem cell therapy for Duchenne muscular dystrophy. The US FDA granted Ryan this trial under compassionate use. Ryan first began treatments at the Stem Cell Institute in Panama before being able to receive treatments in his hometown of Wichita, Kansas.
Coughing is how you clear your lungs and airway, keeping germs and other toxins out of your respiratory tract. This video explains all that is involved when your body coughs, and why coughing is important.
Over time, the muscles that help you cough may become too weak to cough effectively. Mucous containing germs and other toxins can remain in your lungs, causing you to get sick more easily. If your cough becomes too weak to remove this mucous from your lungs and airways, you will need some help coughing. This video explains the different ways that your cough can be assisted, keeping your airways clean and your lungs healthy.
In this segment, we meet Randy Richardson, MD, MMS, Assistant Professor of Neurology at Seattle Children's hospital. He examines a young boy, Hunter Rader, to verify the progression of his Duchenne muscular dystrophy. Dr. Richardson also takes some time to speak with Hunter's mom, Tami, who gives advice to parents of newly diagnosed children with muscular dystrophy.
Jeff Chamberlain, PhD and Bruce Ransom, MD, PhD of The University of Washington continue their discussion about muscular dystrophy, this time describing the genes that cause muscular dystrophy. These genes include, but are not limited to dystrophin, collagen VI and sarcoglycen. Different gene defects can cause different types of Muscular Dystrophy, some just disabling, and others fatal.
Jamesy Raffone was diagnosed at 6 years old with a rare disease, Duchenne muscular dystrophy. His father decided not to watch his son wither away, he researched and made strides in helping his son manage his disease.
Terry Marlin is 41 years old and has been married to Sonya for 16 years. They have 2 boys, Jonah is 12 and Emory is 10 who were diagnosed with Duchenne Muscular Dystrophy in 2009, which is why they started FightDMD in April of 2010. Terry Marlin and his team have currently raised $750,000 to fund cardiac research at Vanderbilt Children's Hospital for kids with DMD.
The differences between C-PAP (continuous airway pressure) and Bi-PAP (bi-level airway pressure), two methods of assisting nighttime breathing, can be confusing. This video explains the difference between the two and when each should be considered/used.
Monitoring your breathing during sleep is important. While you sleep, your body breathes oxygen in and carbon dioxide out. If your body is not getting enough oxygen, or has too much carbon dioxide, you won't feel your best while you are awake. Two main breathing problems of DMD are Obstructive Sleep Apnea and Hypoventilation. This video talks about the same and its consequences and management.
CureDuchenne Cares is an interactive education and outreach program designed to increase the health and wellbeing of those living with Duchenne muscular dystrophy. The program provides education to parents, family members, caregivers, physical therapists, and other core members of the care team.
Linda Cripe, MD presents at PPMD's Annual Connect Conference on June 29, 2017. She is professor of pediatrics at the Heart Center. She discusses care complications and chest pain in DMD in this video. Learn about what you can do in such situations.
In this 2015 Duchenne/Becker Transitions Meeting panel session, panelists talk to adult siblings of men with muscular dystrophy about what it was like to grow up with brothers who have muscular dystrophy, and what that dynamic looks like today as adults. They also discussed their relationship with their parents.
Prasanth Surampudi, MD presents at PPMD's Annual Connect Conference on June 29, 2017. Dr. Prasanth Surampudi discusses about the types of bones and common types of fractures which relate to DMD such as spinal fracture, long bone fracture, hip fracture, etc. This video also focuses on symptoms, causes, pain management programs during fractures and other diseases which relate to fractures.
Several topics are discussed in this video such as contractures in DMD, physical therapy techniques, orthopedic treatment for contractures, scoliosis in DMD - evaluation and treatment, fractures – causes and treatment, monitoring bone health, complications, etc. Boys with DMD face a lot of problems during bone movements, and sometimes no financial help can be provided to them.
In this 2015 Duchenne/Becker Transitions Meeting panel session, panelists spent some time with a few men who’ve transitioned into new roles within the family dynamic as they’ve married and started families of their own.
This video describes how relationships work for people who either are suffering with DMD or are caregivers to DMD patients.
Limits have been put on Blake Leitch ever since he was born. Initially he wasn't expected to live past the age of 6. He looks at life through a different lens, Now 21, he offers his personal insights into the world.
Hari Krishnan Nair has discussed about Duchenne Muscular Dystrophy. In his slide, Dr. Nair has emphasized on the organs affected by this disease. Moreover, he has discussed about the types of diagnosis and treatments opted for duchenne muscular dystrophy
Duchenne is typically diagnosed between the ages of two and six. The first noticeable symptom is delay of motor milestones, including sitting and standing independently. Speech delays are also very common in boys with DMD.
Rare diseases like Duchenne together affect many thousands of children across the world. Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is a 100% fatal condition.
Boys are born with one X-chromosome (from mom) and one Y-chromosome (from dad). Because boys only have one X chromosome, if the X-chromosome they receive has a gene mutation that causes Duchenne, the boy will be born with Duchenne.
In 1986, MDA-supported researchers identified a gene on the X chromosome that, when flawed (mutated), causes both Duchenne and Becker muscular dystrophies. Genes contain codes, or recipes, for proteins, which are important biological components in all forms of life. In 1987, the protein associated with this gene was identified and named dystrophin.
This is a video by a caregiver. Amy Napoli and her sister discuss about DMD. Amy is a health coach and her nephew is affected with DMD. The life altering changes Duchenne puts on boys is immense, but its grasp reaches out beyond the caregivers. On June 10, 2015, a webinar was held to discuss how to take a healthy approach to nutrition, exercise, and overall wellness while still being an amazing caregiver. If you missed this informative discussion, give yourself a few minutes to view the recording.
This webinar reviewed the basic biology of dystrophin (the gene, structure-function of the protein, its role in the dystrophin-glycoprotein complex, characteristics of different forms of dystrophin (both naturally occurring and drug-induced truncated forms), discussed how dystrophin is measured in both preclinical studies and clinical trials, and discussed the need for and role that dystrophin analysis play in clinical trials of novel agents designed to exert their therapeutic effects through an increase in dystrophin levels.
In this segment, the panel turned its attention to Duchenne muscular dystrophy, which affects just one in every 3500 male births according to moderator Abhimanyu Garg, MD. That equates to 20,000 new cases every year.
Tom has Duchenne muscular dystrophy, a rare and fatal condition that causes muscle weakness, and a relentless deterioration in physical abilities. Action Medical Research is funding research which aims to develop a new treatment that could increase muscle strength and slow down disease progression to help give boys like Tom a better brighter outlook. Hear Tom's story to get a clear thought of the life with Duchenne Muscular Dystrophy.
The FDA grants accelerated approval to the first drug for Duchenne muscular dystrophy. CureDuchenne provided early funding to Sarepta Therapeutics for the development of this drug. This provides hope to all Duchenne families and this is a huge step forward in turning Duchenne from a fatal disease to a more manageable condition.
During Aquatic Therapy, a child is immersed in water and is able to perform exercises. Water reduces the pressure on bones and joints which enables the child to move freely. This benefits the child by strengthening muscle tone, improving coordination, and increasing endurance.
Duchenne Muscular Dystrophy (DMD) is a genetic muscle-wasting disease that leads to disability and early death. In all cases of this disease, the gene for a protein known as dystrophin is mutated. How does a dysfunctional dystrophin gene cause DMD? Find out in this episode of Medicurio.
Neurology Grand Rounds Guest Speaker Robert C. Griggs, MD, speaks on October 25, 2013. He first talks very briefly about Duchenne treatments and prospects for cure. He then discusses about equipoise, standards of care, and fidelity in this video.