Muscular Dystrophy

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What advice do you have for someone searching for a rare disease diagnosis?

Between managing symptoms, juggling doctors’ appointments, and trying to find a name for what you’re experiencing, the journey to a rare disease diagnosis can be a bumpy one. That’s why it helps to have a community that “gets it” in your corner.

If you’ve been through the rare disease diagnostic process before, what advice do you have for someone just starting their search for answers? Do you have any tips for communicating with health care providers?

And remember, no matter where you are in your rare disease journey, you’re your own best health advocate. We’re cheering you on!

✏️ P.S. We’re creating a story with one of our partners, Catalyst, to raise awareness around late-onset rare disease. We may use your answer in an upcoming story on The Mighty.

💡 If you’re looking for more resources on navigating life with a rare disease, check out Catalyst’s new program at Many Faces of LEMS - lemsaware

#RareDisease #LambertEatonMyasthenicSyndrome #MyastheniaGravis #LungCancer #SCLC #CheckInWithMe #Spoonie #MentalHealth #Caregiving #MuscularDystrophy #IntravenousImmunoglobulin

Many Faces of LEMS - lemsaware

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Having A Home Health Can Be A LOT!

Part 1 of 2 Home Health Aid for Chronic Illness: A Comprehensive Guide

As someone who suffers from a chronic illness, I know firsthand how challenging it can be to manage your health while also trying to maintain a normal life.Imagine having a chronic illness that affects your daily mobility, quality of life, and having hired personal care assistants who don’t show up – meaning that you don’t eat, drink, go to the bathroom, shower, or get to the doctor for your necessary weekly appointments. That has been my reality too many times to count because of the negligence or unprofessionalism of many of the home health aids I’ve hired and fired. Time and time again, my experiences have proven the old adage to be true, “Good help is [truly] hard to find.”The real need to have consistent and reliable help still exists as daily reality for those of us with chronic illnesses like Muscular Dystrophy. I want to make it clear that my experience does not represent all experiences, but as someone who is dependent on the assistance of another to maintain a human-quality of life, I know the importance of having the right support on this journey. Whether it’s you, a relative, partner or community member, understand that the evaluation process of a home health aid is just as important as the work. I want to share some of the things I’ve learned in my experience of hiring (and firing) home health aides in hopes that you too can find the best help for yourself or loved ones. Based on my experiences, I’ve compiled a list of considerations, skills and responsibilities a home health aid should possess in order to adequately support those with chronic illnesses and other conditions that may affect mobility and expected functions of the body. What to Expect or Request from a Home Health AidDaily Living ActivitiesHome health aids should be prepared to assist patients with activities of daily living. This can include personal care such as bathing, grooming, or dressing. They may also help patients and caregivers with light housekeeping duties, such as laundry or food preparation.Condition ManagementFor patients with chronic illnesses, home health aids can play a vital role in helping us manage our condition. They should work closely with the patient’s healthcare team to ensure that we receive the necessary care and support. This includes monitoring the patient’s vital signs, administering medication, and providing emotional support.Independence and Quality of LifeIn addition to providing physical care, home health aids should also help patients maintain our independence and quality of life. Assisting with mobility and exercise, encouraging social interaction, and providing companionship are additional factors that can make or break your experience depending on your current caregiving support system. Knowing first-hand how challenging living with a chronic illness can be, I”ve learned that its’ 100% necessary to work with an aid who makes your life more comfortable with their help, not more work. Skills Required for Home Health AidsAfter having my fairshare of good and bad experiences with home health aids, I have developed a checklist of skill sets that make the difference between feeling supported and feeling frustrated. Here are some important factors to keep in mind when selecting a home health aide.Language SkillsOne of my biggest challenges with most of the home health aids I’ve worked with is a lack of reasonable English language skills. Not being able to truly understand one another or effectively communicate has been my biggest barrier to receiving adequate care. I am a strong supporter advocate and believer in diverse workforces, but this has been one area of frustration for me as time and time again, I have had to end a contract based on the inability of my home health aid to understand or speak English. My hope is that you don’t experience the same challenge, and I do hope there will be more training and development resources available to help solve this issue for both home care providers and the patients like me who so desperately need their assistance. Communication SkillsEffective communication is essential in the home health aide profession. Being able to communicate with patients, their families, and other healthcare professionals is critical and something you can’t skip when evaluating your aid. I need to be able to discuss treatments, medications, doctor’s orders and I need to know that my aid understands and can communicate when they don’t EmpathyEmpathy is the ability to feel compassion for another person. Your home health aid has to be sensitive to the fact that they may be working with patients who have health issues and cannot perform basic daily tasks. To be effective and make genuine connections with patients, aids must have strong empathy skills. This includes creating a rapport with the patient

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I'm new here!

Hi, my name is Brenda Lee. I've been diagnosed with Adult Onset Muscular Dystrophy LGMD2A R1, a slow progressing rare muscle wasting disease. It's incurable and I need support and want to hear stories of coping mechanisms. I'm still mobile at 62, no chair yet. Finding a life balance is a struggle in Vermont.
#MightyTogether #MuscularDystrophy

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Double Standards in Funding for the Physically Disabled

Part 1 of 2 I am aware that this article may stir up some controversy, but there are certain things that must be brought out of the hidden, dark places and into the light. It’s also an opportunity to educate everyone: able-bodied and disabled alike, to the double standards that exist in funding for the physically disabled.

There is a discrepancy in funding available for those who become physically disabled later in life and those who are born with a physical disability. I know that’s a rather pointed statement but let me prove it with some facts gleaned from extensive research. Note: all research was done online using the google chrome search engine.

The largest group of people who become disabled at some point in life are those diagnosed with Multiple Sclerosis (MS). There are approximately 400,000 people living with MS in the US. MS Foundations received $47.5B from the National Institute for Health (NIH) for research in 2023.

Eight states in the US have grants that can be applied for to assist in paying for physical and occupational therapies, medical equipment (canes, walkers, wheelchairs), and for home renovations to make things accessible for people with MS. Crowdfunding is also very successful for larger items like accessible vans, roll in showers or slide/step-in tubs, and accessible kitchens, and the cost of medications for MS is extreme.

The second largest group in this category are people who sustain spinal cord injuries (SCI) as a result of car accidents, sports accidents, boating accidents, and falls. As I write this there are 302,000 people living with a SCI in the US. SCI Foundations and Research received approximately $100M from the NIH for research alone in 2023.

Then there are funds available in the form of grants to assist people with SCI in paying for medical equipment (wheelchairs, walkers, sliding boards, saska poles) and for home modifications (ramping, wheelchair lifts or elevators, bathroom renovations for roll in showers, grab bars, modified kitchens, etc). Crowdfunding has also proved very successful in obtaining the funds necessary to provide therapy services, wheelchair vans, and other living expenses those with SCI face on a monthly basis. Some are able to obtain damages from lawsuits if their SCI was a result of someone else’s choices: drunk drivers, or drivers under the influence of narcotics are good examples.

Let’s contrast that information with the largest groups of people born with physical disabilities. People living with Cerebral Palsy (CP) top the list. Currently there are 764,000 children and adults living with CP in the US. CP Research foundations received approximately $30 million dollars from the NIH in 2023.

There are funds and grants available for children with CP for physical therapy, occupational therapy, wheelchairs, walkers, and other personal aids; wheelchair vans, and renovations to make homes more accessible in the US. These come from a variety of forms: foundations, telethons, and professional sports organizations. Once a teen turns 18, all of this is cut off. Adults with CP have to advocate for themselves and that is an uphill battle. In 2023, most primary care physicians still think of CP as a childhood disorder. Crowdfunding has not proven to be very successful either. There are no legal avenues for people with CP unless their injury was a result of malpractice and that is very difficult to prove and uphold in a court of law.

The second largest group are people who are born with Muscular Dystrophy (MD). Currently there are 250,000 people living with the various forms of MD in the US. Funding for Research comes from two sources: the NIH and Muscular Dystrophy Association (MDA) and the combined total is approximately $27M per year. It must be noted that MD in all of its forms shortens the life expectancy with the average lifespan being between 18–25 years of age. The oldest living person with MD is now 40 years old. The funding for medical and personal equipment, wheelchair vans, and house renovations is very similar to that of those with CP as the funding sources are similar: telethons, sports organizations, and the MDA as well. Unlike CP, that care extends throughout the lifespan of a person with MD.

Physical Disability acquired:

MS = $47.5B in research funding for 400,000 people in the US.

SCI = $100M in research funding for 302,000 people in the US.

Total: $47.6B for 702,000 Americans.

Physical Disability from birth:

CP = $30 million in research funding for 764,000 people in the US.

MD = $27 million in research funding for 250,000 people in the US.

Total: $57M for 1.14M Americans.

The funding gap between the two is appalling. There is more empathy from the able-bodied community for others who were able-bodied, but have a

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I’m new here!

Hi, my name is Bloom. I'm looking for groups of support my daughter has been diagnosed with Limb-girdle muscular dystrophy

#MightyTogether

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I’m new here!

Hi, my name is hippityroo. I've been diagnosed with Inappropriate Sinus Tachycardia, Cluster Headaches, Neuropathy, PCOS, lumbosacral transitional vertebrae (LSTV), IBS, Hashimoto's, Autism Spectrum Disorder, Bipolar Disorder, OCD, C-PTSD, and ADHD. I have a EMG/nerve test tomorrow afternoon and I'm scared out of my mind. Does anyone have any tips or advice? Maybe advice what to expect? Not knowing it driving me up the wall. Thank you in advance! We're testing for Myositis and Limb-Gurdle Muscular Dystrophy if that makes a difference on the testing?

#MightyTogether #Depression #AutismSpectrumDisorder #PTSD #ADHD #OCD #EatingDisorder #Osteoarthritis #AutonomicDysfunction #Myositis

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Physically Disabled, but Not Intellectually Disabled

Think about what you do best. Are you creative, a musician? Do you cook well? Were you a star athlete in high school, and do you still try to stay in shape? Maybe you are very cerebral and well-studied. You are humble enough to know you have weaknesses, but see your strength as your contribution to the world. Something you can fall back on and say you are good at, even in the face of other challenges you may face in life.

Imagine a world in which not only are you not recognized for your strengths, but your strengths are actually seen as weaknesses. Ever since you were a kid, people assumed your strength was a weakness, and you know that there will always be people who make that assumption until the day that you die, no matter how hard you work at your strength or how many accolades you receive.

There is a widespread misconception that most people with physical disabilities also have intellectual disabilities. Statistics show that this is not the case. Common physical disabilities include cerebral palsy, spina bifida, and muscular dystrophy. Around 50-70% of people with cerebral palsy do not have any intellectual or learning disabilities, according to the www.ninds.nih.gov/health-information/disorders/cerebral-palsy and Cognitive Impairment Estimates show that around 70% of people with muscular dystrophy do not have any intellectual or learning disabilities, according to the Quest - Article - When Neuromuscular Disease Affects the Bra.... According to the www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/di..., 80% of people with spina bifida do not have any intellectual or learning disabilities. These statistics do not include many other forms of physical disability, including, but not limited to, physical disability as a result of chronic illness or injury.

The truth is that not only do most people with physical disabilities not have intellectual disabilities, but many of us have above-average intelligence. Like a blind person with strong hearing or a deaf person who can see well, people with physical disabilities often use their intelligence to compensate for their weaknesses.

As a child, I was not playing on sports teams or dancing in recitals. I was reading, working on homework, and trying to win academic awards. It’s what I knew I could do well, and gosh darn, I was going to excel at it. For most of my academic career, I was not in special education classrooms. I was in Honors classrooms.

This is not to say people with physical disabilities are better than those with intellectual disabilities or that intellectual disability is a valid reason to treat someone poorly. Every person-whether physically disabled, intellectually disabled, or both, deserves to be recognized for their strengths and accommodated for their weaknesses. (According to the www.psychiatry.org/patients-families/intellectual-disability..., 85% of those with intellectual disabilities only have a mild intellectual disability. Also, even those with severe intellectual disabilities have value as human beings.)

This is about the many times I’ve overheard people whisper in shock, “Jen’s actually smart.” This is about people speaking more slowly or over-explaining things to my friends and me. This is about employers making pre-judgements about candidates with visible disabilities. This is about how many accessible recreational activities, social activities, and even church programs for people with disabilities are geared toward those with intellectual disabilities or even children. (At times, the leaders of such programs assume grown adults with physical disabilities need their parent’s permission to participate.)

This is about the strengths of people with physical disabilities being mistaken for our weaknesses.

Quest - Article - When Neuromuscular Disease Affects the Brain | Muscular Dystrophy Association

If you’re the parent of a child with a neuromuscular disease, you’ve probably heard something about learning disabilities, mental retardation or emotional problems that accompany some of the muscular dystrophies and related diseases. But this information is often expressed in vague, general terms, leaving a parent wondering what specifically has gone wrong, whether the child’s school problem is directly related to his neuromuscular disease or not, and — perhaps most important — what can be done to help. Several neuromuscular diseases can involve cognitive problems.
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The Funny Side of Muscular Dystrophy: 911 and Jackets

Part of living with muscular dystrophy for over 20 years has taught me to laugh at myself on more than one occasion. Throughout my academic career I took things extremely seriously and was slightly (tremendously!) competitive. I won’t say that it got to the point of dominating my life, but it factored into my at times overly serious disposition. Luckily, I learned to lighten up eventually!

In 2019, I could see the light at the end of my graduate school tunnel. After years of research, writing, designing, performing experiments and reiterating, I finally set a date for my PhD defense. This still is one of the most nerve-racking experiences I’ve had! Besides the fact that I was presenting and defending all of the research I had done since approximately 2013 to my academic advisors and committee, there were 15 to 20 friends, family, and colleagues there supporting me. While I paced myself during practice sessions to talk for about 45 minutes with 30 to 40 minutes of close door discussion with my committee, it went much quicker unsurprisingly! About halfway through, I felt myself calm down a bit, and I finally got into a flow similar to other presentations in the past. No matter how much you prepare, there’s always going to be nerves for something this significant. Enter my adaptive needs. Part of my graduate school experience was becoming a pioneer. As a power wheelchair user with muscular dystrophy I had to adapt and experiment to complete simple tasks like typing, writing, opening doors, accessing elevators, entering laboratories, and attending meetings. Furthermore, it’s not like there were many examples to follow, which meant I had to blaze my own trail. One of the adaptations, that myself, and a team of students in a design class (Shout Out Team PERCH) came up with was based on an idea by one of my awesome advisors. The device would assist me in making my laptop more portable. For someone in a power chair driving alone is enough of a job. Adding things to carry is an entirely different problem. I always needed someone to pull the laptop out of my backpack and place it on a table or desk in the past. For the first time, I had a stable platform to place my computer. You can’t imagine how liberating and exciting this was! I could drive to a coffee shop, switch rooms in my home during writing sessions, and attend meetings and classes anywhere on campus with my trusty computer at my fingertips. I made use of some industrial grade Velcro to make sure the laptop didn’t fall and end up road kill. I could also attach my phone and the automatic door opener for my office on the platform. Why am I elaborating so much on this platform you ask? Now is the time that I have to remind you electronic devices don’t always behave like you expect… Because I had my laptop open during my dissertation defense, I could not see the screen of my iPhone. But I would periodically make eye contact with my audience and a few faces were looking down at where my phone was attached to my laptop stand. After completing my presentation, I took a quick break, closed my laptop and got a drink (tiny sip IYKYK) of water. When I looked down at my phone, I happened to see a very short phone number that was connected to someone on the other line talking about an emergency. Yep, my phone called 911 during my PhD defense! 😳I can’t imagine what the committee members were thinking watching my phone go into panic mode. Honestly, my phone must’ve been channeling my emotions because there were a couple of moments where I would’ve actually considered dialing 911. This ended up being a minor issue because I did pass my defense and am proud to look at my diploma as the culmination of years of teamwork with friends, mentors and family. I still think back on this as one of my biggest achievements because I was proving that someone with muscular dystrophy could earn a PhD in one of the most challenging fields of study. I will also remember the moment when my phone went rogue and tried to bail me out during the most critical point of earning my PhD!

Sometimes it’s not the electronics that go rogue and start doing random things. Anyone who has been on painkillers or other medications that alter your mental state will probably relate to the story. I was about halfway through my stay at the UNM hospital neurological ICU in 2021. I had never taken many medications, let alone powerful painkillers. This was the first time in my life when I honestly needed them. When you have muscular dystrophy, your muscles and ligaments are extremely tight to the point of developing contractures that severely limit range of motion. Hyperextensions are one of the most painful things you can endure. Not having my speech at the time, the nurses in the ICU had no choice but to roll me on my side for a number of care needs, including, avoiding pressure sores without my feedback. Once one of my nurses figured out that I was trying to write a note to her, I was able to communicate enough to let them know how much pain I was in during these turns. I started out with painkillers like Tylenol and eventually small doses of oxycodone. While these helped with some of the pain, they did not touch the excruciating shock waves going through my body during side to side turns. Oh, hello fentanyl. I’m sure that many of you know of this addictive opioid. Unfortunately, activities like transfers from bed to gurney and turning on my side were next to impossible without it. Fentanyl, more than any other medication I took over the 45 days in the hospital, played tricks on my mind. I said a couple of things that were interesting and alarming, especially for someone with a PhD in biomedical engineering. In 2021, Covid was still raging and remained embedded in my mind even more so being around more people in the ICU. My mother and father would alternate staying with me, which obviously meant they would leave and come back risking some additional exposure to infection. One wonderfully fugacious (shoutout to my Thermodynamics training!) night after receiving fentanyl, I began stressing about introducing the Covid virus into parts of the hospital that were not infected. I analyzed everything that was entering and leaving my room, including janitor brooms and my father’s JACKET. You can imagine the look on my parent’s faces when I began ranting about getting the contagion out of the hospital! I was adamant that this piece of comforting daily winter-wear was a vile infected monstrosity. At some point the effects wore off and my sanity and reason thankfully returned. There were other instances of fentanyl messing with my mental state, but for some reason this stands out. I’m fortunate now to be able to look back on my most life threatening experience and laugh at my fentanyl influenced self. While there are so many negative and stressful events that happened during that time, memories like this help me cope to this day. However, I will avoid this particular pain medication at all costs moving forward because of the mind altering side effects and more severe, addictive consequences.

The main point of sharing these humorous moments in my life with muscular dystrophy is to highlight that no matter how big or serious an event in your life seems at the time, you can always find a laugh somewhere. I continue to realize this more and more and apply it to my every day life. Laughing at yourself and your situation can sometimes be the best medicine for you and those around you. It can even be better medicine than powerful opioids. Whether you have a disability or not, there will obviously be times where you feel stressed, anxious, embarrassed, or in pain. I hope if you do not already look for humor in the face of adversity, you begin to try. Please feel free to share any of your funny life stories with me and others! Let’s take a roll on the funny side!

(edited)
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