Showing posts with label USA. Show all posts
Showing posts with label USA. Show all posts

April 15, 2021

Jack Enzler

At Rancho Mirage, California

I was diagnosed with LOPD 6 years ago at age 62...I was hired by The Home Depot almost 3 years ago, (I now work at the Rancho Mirage, California location) and, at the time, did not share any details of my condition (passing off as the slow moving old guy!)...in recent months I've shared more of my situation as the disease progresses..I feel fortunate to be working for a company that cares about its people and the community at large..a recent example is last month I was faced with a move that was overwhelming (just from a physical/ logistical sense. My supervisor asked if I'ld be receptive to help and I quickly responded, "yes please!"...on the big day they moved all the heavy furniture and many heavy boxes which reduced the stress greatly. 

As a former contractor I get a lot of satisfaction helping people with their various projects and, while I'm shuffling around these aisles even more slowly now..and heavily dependent on my "go-back" (returned merchandise) shopping cart (aka walker), I hope to continue as long as I can.
God bless everyone reading this and those you love❤️. 

Jack Enzler

Haley-IOPD

Haley Hayes is from Virginia, USA. She's 15 years old and was diagnosed with Infantile Onset Pompe Disease at 6 months old. She loves connecting with Pompe family all over the world via social media. She is also passionate about spreading awareness and newborn screening.

Pompe Life in Texas!

Howdy! In Texas, Pompe Life for me is all about family and friends. We love fiesta, the outdoors, and the Pull for Pompe!  Several of these photos are from past Pull for Pompe events, a fundraiser for Pompe research. It is generally held in April, right by International Pompe Day! I also include a photo from the "Pause for Pompe" we did on International Pompe Day in front of the Alamo several years ago! Another fun day of support and awareness for Pompe! Hope to see ya'll here in a few years at the next AMDA/IPA International Pompe Patient and Scientific Conference!

Tiffany House, Texas, USA (38)



Working Toward a Breakthrough Together on International Pompe Day

By: Gallia Levy, M.D., Ph.D., Chief Medical Officer, Spark Therapeutics

April 15 marks International Pompe Day, an opportunity to educate ourselves and raise awareness about the rare and complex impact of this inherited lysosomal storage disorder. This year's theme, "Pompe Around the World," calls on patients, caregivers, healthcare providers, advocates and researchers to participate in a global dialogue and connect with this community. It reminds us that achieving a brighter future for those affected by Pompe disease will require sustained and collective action from all of us.

At Spark Therapeutics, our commitment is stronger than ever—and I am proud of our ongoing collaboration with the International Pompe Association and the broader Pompe community, as we work together to address unmet needs and enhance the Pompe disease community's understanding of gene therapy research.

Spark is dedicated to empowering members of the Pompe patient community. This involves listening to those affected by Pompe disease to understand precisely how the disease impacts overall quality of life and how symptoms like pain, difficulty walking and fatigue can get in the way of daily activities. These insights help us to understand the full burden of Pompe disease, so we can endeavor to advance new options to address the most urgent medical needs. 

Guided by this foundational understanding, our aim is to develop and safely research a gene therapy that will provide a durable and meaningful benefit for those living with Pompe disease. Despite the variability in symptoms and disease manifestations, all individuals living with Pompe disease have mutations in the GAA gene, leading to reduced or missing acid alpha glucosidase enzyme. As a single gene disorder with well understood biochemistry and natural history, we believe gene therapy holds significant potential in treating this condition.

Through our global RESOLUTE clinical trial, we are investigating the safety and efficacy of an experimental gene therapy for people with late-onset Pompe disease, and we hope these efforts will ultimately allow us to deliver a novel therapy to patients in need of innovative options. As we actively enroll participants in the RESOLUTE clinical trial, we are honored to collaborate with the Pompe disease community to advance understanding of gene therapy research, enabling people with this disease around the world to make informed decisions about whether gene therapy may be the right therapeutic choice for them.

At every step of the way, the Pompe disease community inspires us by connecting patients and families to education, research, support services and to each other. This community is a reminder of how many lives are impacted by this disease and fuels us to continue working tirelessly toward a breakthrough.

To learn more about Spark Therapeutics’ work in gene therapy, or to learn if you or someone you love may be eligible to participate in a clinical trial, visit ClinicalTrials.gov.

Amy K. Fisher, MS, CGC (she/her)

Head of Patient Advocacy

Spark Therapeutics

3737 Market Street

Philadelphia, PA 19104

O:   215-220-6288

www.sparktx.com

Facing Unique Times Together: Pompe Around the World

International Pompe Day 2021 comes at a peculiar time for the human
race. At this point a year ago, the COVID-19 pandemic began to spread
across the globe like wildfire. The world essentially shut down to
slow the spread of the contagious disease. For most, this meant less
in-person outings to the store, or restaurants. For the Pompe
community, it brought additional challenges.
"Stay at home" orders introduced difficulty for many patients to
undergo their yearly batteries of tests and physician visits. Even
worse, getting bi-weekly (or for many, weekly) infusions turned into a
harrowing experience of potential exposure, either having an outside
medical professional come into your home, or by spending hours in a
hospital environment.

Throughout this pandemic, any chances at seeing other Pompe patients
for casual gatherings, such as at the Duke Hospital yearly meetings,
have been nullified. For patients and caretakers alike, the reduced
contact with others in the Pompe community has made the mental health
aspects of this disease much more of a struggle. However, in line with
this year's theme of pompe around the world, we as a community come
together, virtually, to not only face this debilitating disease, but
also the demands of the pandemic. As a community, we have adopted the
motto "together we are strong." In the uncertain times of the present,
we continue to connect globally to share information, resources, and
advocacy. Much like this blog post you are reading now, we share our
stories to maintain hope, to understand, to cope, and to inspire. Once
a patient, parent, or caretaker is able to locate the resources of our
community, they become part of it. You do not have to look far to see
a parent that has an infant diagnosed with Pompe via newborn screening
that has reached out on Facebook, receive dozens of warm and
compassionate replies of open arms, or for casual Zoom meet-ups
arranged by patients, for patients, to catch up to talk about life.
With the power of technology and the strength of our community,
together we are strong. Pompe around the world.

Sean Doerr, Detroit, MI USA

Sanofi Genzyme bringing #PompePearls of wisdom around the world from you, for you

Well-being is a topic that needs more focus and attention according to patients, caregivers and providers impacted by Pompe Around The World. Your responses to the question “what has helped you on your journey living with Pompe” brought firsthand perspectives of how you have navigated the challenges of the condition and stayed strong. From these meaningful insights, #PompePearls of wisdom was born. 

Sanofi Genzyme has partnered with artists to transform these words of mental resilience and emotional encouragement into beautiful and unique works of art: 

 

No two experiences of Pompe are the same, but each and every one is invaluable to others living with this rare disease. By opening up and sharing your advice, you bring hope and positivity into the lives of others. Keep the inspiration thriving. Share your words of wisdom using #PompePearls. 

About Sanofi Genzyme

Sanofi Genzyme is a pioneer in the development of treatments for Pompe disease and has collaborated with the Pompe community around the world for more than 20 years. We were the first to develop an ERT of the treatment of Pompe disease and our hope for the future is for Pompe patients to live to their fullest potential. We continue to develop innovative solutions that have the potential to offer meaningful change.

MAT-GLB-2101291-v1.0 April 2021

Marshall’s Mountain

Marshall is a one year old with LOPD that was diagnosed via newborn screening. Marshall lives on a farm in northwest Ohio, USA with his parents and two older siblings.

Newly Diagnosed Mom Of 2

On Feb 18, 2021 I was diagnosed with Late Onset Pompe Disease (LOPD).  I'm a married, 45 year old Mom of 2 young boys (5 and 3) who works full time "outside" the home.  (Due to COVID I've been working from home for the last year).  It's been a journey of 10+ years (probably closer to 20) to get diagnosed. During that time, my mobility has deteriorated to the point which I recently purchased a shiny red rollator to help me get around when I'm outside of the home.

I am so thankful to finally have a diagnosis and my Neurologist, Dr. Stuart Mendelson, is my hero. I begin ERT on 4/7/2021 and I am grateful that there is a treatment out there than can provide some hope of at least slowing the progression of this disease.  And I am thankful for this amazing Pompe community that is there to help me along the way.

Stephanie Levin
Age 45
Randolph, NJ USA


April 15, 2020

Hope for the future


Our hope for the future:

For there to be a cure, not only for pompe but for all rare diseases. 👏🙏🏻💚

Lindsey Bergman
3 years old
Ohio, United States

Duke Pompe Disease Clinical and Research Team

Please join the Duke Pompe Disease Clinical and Research Team in remembering our friends and expressing our hopes for the future on International Pompe Day! During our time away from the office, away from co-workers and friends, we have reflected on our “hopes for the future” for our patients and research participants with Pompe disease.  We join the Pompe community celebrating this exciting time of new studies and advances in treatment!


“As a physician researcher, my hope is that we continue to make new strides in therapy development to provide the best possible treatments to our children and adults with Pompe disease. “ – Priya Kishnani

“My wish is for safe resolution of the pandemic, so that we can all get back to working on Pompe disease research!” – Dwight Koeberl

”My hope is that we will be able to provide a treatment that makes daily life easier for all children and adults with Pompe disease and prevents long-term medical complications.” – Jennifer Cohen

Quote provided by Areeg El-Gharbawy, “Once there is hope, anything is possible” (Christopher Reeve)

“Positive Energy and persistence can conquer all things, including Pompe disease."  - Modification of Benjamin Franklin quote by Deeksha Bali

“My hope is for the parents of children with Pompe – that when a new diagnosis is received, the parents are filled with hope and thoughts of a bright future without the worry of Pompe disease.” – Stephanie Austin

“Here’s hoping that very soon a cure for Pompe will be found.” – Carla Johnson

“I hope for a cure for Pompe disease.” – Sarah Young

“The breakthrough in treatment for Pompe should help in preventing muscle loss so individuals with Pompe can continue to be strong and independent”. – Surekha Pendyal

“My hope for the future is that a diagnosis of Pompe disease is never missed in a patient.” – Ashlee Stiles

”I hope Pompe awareness continues to grow so that patients are able to have optimized local access to Pompe- specific care.” – Jennifer Coker

”Newborn screening for Pompe be done routinely around the world.” – Sarah Laub

“I hope that Pompe warriors win, always!”– Aditi Korlimarla

“My hope for Pompe is newborn screening for all!” – Erin Huggins

“My hope for the future is mandatory newborn screening for Pompe disease for everyone!” – Janet Blount

“My hope is after I have contact with any patient or family member touched by Pompe disease, I am able to leave them with a positive outlook to their future. I hope my small part in the research world will have a great impact on each of these families.” – Stephanie DeArmey

”I hope gene therapy can provide Pompe patients with a long term supply of GAA enzyme without moderate or severe side effects.” – Ming Xu

“Hope for accurate markers as predictors for trajectory of disease and hence personalized therapy. TOGETHER WE ARE STRONG!” – Shelly Goomber

Hope for POMPE
P – Patients and parents of affected children coming together
O – One voice
M – Monetary support to further research efforts
P – Physicians, scientists, and researchers working side by side for a cure
E – Earliest recognition of symptoms for accurate diagnosis, management, and treatment
- Erica Nading



Janet G Blount
Clinical Research Coordinator
Pediatric Medical Genetics
Duke University Medical Center
Durham NC 27710

What Is Next

Hello, everyone. My name is Morgan Burroughs. I am 24 years old, living in Asheville, North Carolina. My story is a bit different, which means my hopes for the future are a bit different, mainly because I have many obstacles to overcome. I have experienced many things in my short 24 years of life. I went many years without treatment, hoping I could just make it through until treatment became available; "(obviously, that was the case!)." Flash forward to 2003, the first generation of treatment for Pompe disease became available and I was lucky enough to be in the trial of Myozyme. There are many hopes I have for the future, not only with my disease process, but for my personal life as well. I hope there will be a second generation of treatment for Pompe that removes more of the stored glycogen. I believe there will be a cure some day for this "monster" that we live with so that future patients will not have to endure the trails and tribulations that patients in the present has to overcome. My goal for the future is to find the path that I am supposed to lead and understand why things are the way they are in my life. We all have a purpose in this life, we just have to search for that reason, and if you just look deep enough, you might find the answers in the most unexpected places. I hope to inspire others to stay positive as I do myself, utilizing any and all resources available to see our way through this unpredictable journey.
--
Sincerely,
Morgan Burroughs

The AMDA's Hopes for the Future


Robert H. Goddard said: "It is difficult to say what is impossible, for the dreams of yesterday are the hopes of today and the reality of tomorrow."

Twenty-five years ago, when the AMDA was founded, our hope for the Pompe community was a treatment. Today, that treatment is a reality.

However, just because one hope is realized does not mean that we stop. We continue to hope and dream for a better future for the Pompe Community. Gene therapy, next generation ERTs, muscle regeneration and stem cell therapy are among just a few Hopes for the Future that the AMDA has today.

But as I was writing this I realized that my hopes vary for different segments of the community. For those who have not yet been born, we hope for a day where newborn screening is a reality. Where Pompe disease can be treated or cured before any symptoms occur. A future where parents do not constantly fear for their child's life. So the AMDA's hope for the future of patients who have not yet been born is that newborn screening will be a reality for them. That they will be able to access treatment or a cure before they have to live with the inevitable symptoms of Pompe.

For those who have yet to be diagnosed, we hope for a future where diagnosis is easier. A future where it doesn't take decades of searching for answers to receive a diagnosis. We know that early diagnosis is the key to the best outcomes for patients, and yet the path to diagnosis is still fraught with difficulties. So, the AMDA hopes and strives for a future where that is not the case.

Finally, for those who have already been diagnosed, the AMDA hopes that all patients around the world will have access to current treatments. Even though the current treatment has been commercially available in most countries since 2006, it is not available everywhere. The AMDA hopes that one day treatment across the globe will be a reality. We also hope that future treatments will be better. For some that means a treatment that is more convenient. For others it means a treatment that will repair lost muscle. Regardless of how you or your family define "better," the AMDA hopes that your definition will become a reality in the future.

Ultimately, only time will tell which hopes become tomorrow's realities. But the AMDA believes one thing above all—in order to make any of our Hopes for the Future a reality, we must all work together. The patient community, the medical community and industry all have important roles to play—they are all different, but all equally important. However, in the last twenty-five years one thing has remained very clear—it is by working together that great things have happened for our Community. Together We Are Strong, has never been more true. Here is to all of our Hopes for the Future. Happy International Pompe Day!

Tiffany House
AMDA President

Spark Joins the Pompe Community in Celebrating our Hope for the Future for Pompe disease





By Fatemeh (Mitra) Tavakkoli, MD, PharmD Clinical Development Lead, Internal Medicine, Spark Therapeutics

April 15 marks the seventh International Pompe Day, a global awareness day sponsored by the International Pompe Association (IPA). Through this year’s theme, “Hope for the Future”, IPA is encouraging the community to reflect on the impact of this rare, progressive neuromuscular disease and to look ahead to the future of Pompe disease.

Present-day Pompe disease

A rare genetic disease that affects roughly one in 40,000 people in the U.S., Pompe disease is a dynamic condition with variable rates of progression and different ages of onset. Initial symptoms, such as muscle and respiratory weakness, may begin at any age and manifest differently from patient-to-patient. Today, enzyme replacement therapy is the standard of care for many patients with Pompe disease.


The main focus of my clinical research experience in the past two decades has been in rare disease, and more recently, in Pompe disease. As the medical lead for Spark Therapeutics’ Pompe clinical development program, I have seen first-hand the impact this disease has on the lives of patients living with this condition and their families. My “Hope for the Future” is that we continue to make meaningful strides forward with our innovative gene therapy clinical research to address the unmet medical needs of the Pompe community.

Keeping the Pompe community front-and-center

At Spark, we believe in championing patients every step of the way. We recognize that understanding the day-to-day challenges of those facing inherited diseases, such as Pompe, is just as important as understanding the disease biology. Patients, caregivers and advocates play a critical role in supporting our gene therapy research, and we continuously learn from and collaborate with the patient advocacy community to gather insights that directly impact our scientific platform. For example, we were honored to support the inaugural Community Advisory Board hosted by the IPA in the Fall 2019.

The clinical presentation of Pompe disease can be different from one individual to another. Having the unique privilege to work closely with the incredibly passionate patient community also allows us to better understand the impact of this disease. The powerful insights from IPA-hosted advisory meetings, as well as from collaborative and educational engagements with numerous country-based Pompe advocacy organizations, have propelled our thinking about community needs and defined new areas that we want to explore as we advance our clinical development program. We have been honored to be part of these vital conversations, which ultimately inform our research program and collective hopes for the future. You can learn more about how my colleagues at Spark Therapeutics are sharing our personal Hope for the Future by tuning into our social channels (on Twitter and LinkedIn) on International Pompe Day!

Potential for gene therapy in Pompe disease

Genetic diseases that are the result of a single-gene disorder, such as Pompe disease, are the ideal targets for gene-based investigational therapies. Hope, as well as a vision for a world where no life is limited by genetic disease, are what inspire our team to keep working to discover and develop investigational treatment options.

Our clinical development program aims to help answer many important scientific and medical questions, such as whether our investigational gene therapy is safe and effective. Spark Therapeutics has always placed patient safety first. Recently, as a result of COVID-19 (SARS-CoV-2) pandemic, out of an abundance of caution for the health and safety of Pompe patients and to minimize their risk of exposure to COVID-19 as a result of travelling to investigational sites, Spark Therapeutics has decided to voluntarily suspend enrollment into our Pompe clinical trials. We encourage those in the community to learn more about Spark’s efforts, gene therapy and important considerations in light of COVID-19, by speaking to their physician, visiting clinicaltrials.gov when enrollment resumes, or by emailing us at RESOLUTE@sparktx.com.

I sincerely hope for a future of continued research to combat the devastating symptoms of Pompe disease. I’m proud to join the Spark team and the members of the global Pompe community to express our Hope for the Future and continue to work together to create a world free from Pompe Disease.

Be the help to generate hope





Hope. Defined as a feeling of expectation and desire for a certain thing to happen. Not only does the Pompe community run on hope, but as we are seeing now in this global pandemic, the world does too. There has never been a more hopeful time for Pompe Disease.

As I approach two years since diagnosis of Pompe Disease, I cannot help but think on the opportunities I had had to learn and help push for the advancement of treatment for this disease. To me, having hope with Pompe means giving help. For our community, we must HELP to generate the HOPE. Without a consensus of patients and caregivers pushing for further development and further treatments, they will not happen. The message is simple, generate hope, give help. Be an advocate for Pompe. It may be hard to bring the courage to put your life and disease front and center, but by advocating, we have accomplished newborn screening in over half of the United States. By advocating, the world is listening to our needs and wants as a community, whether it be the media, lectures, non-profits or pharmaceutical companies. I have left out the biggest thing one can do as a Pompe patient advocate.... clinical trials. Take a serious look at what is available, see what will soon be available, and most of all, MAKE YOURSELF available. Hope for the future of Pompe does not happen without relationship between patients and research. If we as a community do consider clinical trials for the betterment of our future, there will be no hope for advancement.

I have hope. Hope for you and I. Hopeful we can continue to strive for a future free from the chains of Pompe that burden us and the ones who care for us. What continues to give me hope is the amazing opportunities presented to me as a rare disease patient. I'm given hope when I have the opportunity to express my experiences with others, whether it is a medical professional, a fellow patient, or a pharmaceutical company. Stay hopeful.

Sean Doerr
United States
Age 30

Dreams for a Cure, Soon!!!





I have been wishing for a cure since my Sister, Shirley was diagnosed with Pompe when she was 35. Then at age 40 I was diagnosed. She was the one who found a drug trial for a possible treatment. We were both accepted into the drug trial. We both were so excited to be in the study. Now 14 years later it's only me receiving treatment. She lost her battle to Pompe in May 2013. My dream is a cure for this disease. Even though I stand alone in my fight I feel my Sister still beside me. We had such a close bond. Two loving brave Sisters who stood up to Pompe.

Mary Joyce
Overland Park, Kansas

SANOFI GENZYME JOINS IN THE ‘HOPE FOR THE FUTURE’

Sanofi Genzyme is proud of our long history in Pompe disease and equally proud of the long history of working with the Pompe community to meet the needs of patients. Research and development in Pompe disease at Sanofi Genzyme started in 1988 and reached an important milestone in 2006 with the approval of the first treatment for Pompe disease that has changed outcomes for people living with Pompe disease around the world. In 2006, we established our humanitarian program, which has helped patients from more than 65 countries. Today, we continue to study this disease with the hope of finding better solutions, motivated by the goal to further improve the lives of our patients.

Through the years working with patients in the Pompe community, we understand that the journey to diagnosis, while getting better for many, can still be a long and winding path for far too many people. We are inspired by patient stories, such as Sean and Cheryl’s, which communicates a powerful story about the importance of family testing. At Sanofi Genzyme, we continue to innovate our ways of working with and supporting the Pompe community. It is a team effort involving industry, patients, patient groups, and healthcare practitioners to increase efforts to identify, diagnose and appropriately manage patients.

Even in tough times, we are working hard and hand-in-hand with the community to ensure patients get the support they need. Our hope for the future, is one in which we carry on efforts to help Pompe patients get to an earlier diagnosis, and pioneer new solutions for Pompe patients, their families and caregivers, because every patient counts.

MAT-GL- 2000316  04/2020

HOPE for POMPE


                                           HOPE for POMPE
    My name is Dwayne Wilson, I turned 52 years old on St Patrick's Day. I have Late Onset Pompe Disease, LOPD. I was diagnosed on Nov. 19th, 2018. Pompe is a type of muscular dystrophy, a muscle weakness disease also know as Glycogen Storage Disease Type II. Soon afterwards I joined Pompe support groups on Facebook, started getting involved with Hope Travels Pompe Awareness where a Sloth named Hope has become the Official Mascot for the Pompe Community. I got my own SoCal Beach Sloth Hope and started bringing awareness to Pompe Disease with the sloths and Hope. I started making more and more friends in the support groups and decided that I wanted to be an advocate for Pompe Disease. After sharing Hope Travels with the LA MDA office and being in a monthly newsletter, I found out about the LA MDA Muscle Walk and decided that I wanted to walk to raise money for the MDA, Pompe Disease and bring more awareness about it and to bring HOPE to the community. Most everyone I encounter has never heard of the disease. I signed up Team Hope for Pompe in our 1st ever Muscle walk last year. The support and encouragement was overwhelming. I had 13 friends and family members walk and support me including my wife and sister, old high school friends and even a new Pompe friend in Trudy who's in the photo with me. Pompe Strong to bring awareness about the disease. I am so Blessed with the circle of friends around me. Team Hope for Pompe was the #1 Fundraising Team and I was the #1 Fundraising Individual. Not bad for my 1st Muscle Walk for Pompe. Life is about experiences and adventures and making memories with the ones we love, friends and family. I like to say Pompe, It's in my DNA. When someone sees a sloth, they think of me now because HOPE is all around. As the Pompe Community says…Together we are Stronger. I also say, Make a Difference in the World. Keep moving on the road with Pompe, there is Hope for a Cure.
By Dwayne Wilson, USA-Southern California
I am Slothman

Pompe Warrior

Here is Margot! She was diagnosed by newborn screen with LOPD This February. My hope is that she draws strength from her situation and inspire others. I hope she defies the odds and lives the life she hopes for.

Amanda Holthaus (mother) 

April 26, 2019

Looking forward to a Bright Future for Pompe Disease

By Federico Mingozzi, Ph.D., Chief Scientific Officer, Spark Therapeutics

I’m optimistic about the future of Pompe disease, or better yet, a future without the devastating symptoms of Pompe disease. (Federico Mingozzi)

Today is International Pompe Day, a global awareness day shining a spotlight on a rare genetic disease that affects roughly one in 40,000 people in the U.S. The International Pompe Association, which sponsors today’s activities globally, has issued a call-to-action to inspire others by how the community is “Moving On with Pompe.” I, for one, hope to inspire the Pompe community and other researchers to “move on” to a bright future for Pompe disease patients through research.

Read more on the website of Spark Therapeutics: http://sparktx.com/voices/looking-forward-to-a-bright-future-for-pompe-disease/

April 17, 2019

Pompe: Silver Linings

Hello Everyone my name is Ellen,

I was diagnosed with late onset Pompe Disease in late 2018. Like many others I had been misdiagnosed, and traumatized by testing and guesswork for years. Once I finally knew what was making me so weak, and all my abnormal results finally created a full picture, I looked immediately for what I could to move forward and what the positives could be. So I'm going to share what keeps me going. First the silver linings on Late Onset Pompe.
  1. One thing I learned and probably the biggest light in our lives collectively, is that there is a treatment to slow the progression of the disease. There is no trial and error, we need the enzyme that our body lacks re-infused into our bodies on a bi-weekly basis to maintain our abilities and our lives depend on it. There are many neuromuscular diseases that have no treatments available, we are lucky, even though it is hard to feel that way on many days. Even more light at the tunnel, there are progressive treatments being developed like gene therapy!