Tears in smiles – living with Pompe in the past 13 years

 

My daughter Kei Kei was diagnosed with Pompe disease when she was two-month old infant. The treating physician said there was an indicated enzyme replacement therapy that was sky-high price. If Kei Kei was not treated, she might leave us by her one year old time. My husband and I did not know about the disease and very sad while puzzled about the next step. 

After digesting the medical advice and available option, we made our mind to try our best to help Kei Kei to receive the enzyme replacement therapy so that she would have chance to experience the world as far as the treatment could help. 

In the past 12 years, we had received donation from different stakeholders and funding groups in the community for supporting Kei Kei's drug cost some years, not to discontinue the treatment while the Hong Kong government did not subside for some years when her clinical response to the ERT was not good. 

Even with enzyme replacement therapy, Kei Kei has been affecting by the disease with muscle weakness that limits her motor function and respiratory problem. One of the most critical medical incidences happened when she was 5. She was diagnosed with severe pneumonitis and has been hospitalized for five months including 3 months in ICU. Afterward, she would need to use ventilator and wheelchair. It was a difficulty time for change of her physical condition and we worries about whether we would be able to take care of her well. 

We always embrace a positive mindset to face all these ups and downs as we believe the disease is irreversible and having an active attitude and good emotion would introduce Kei Kei a harmony family environment. We would also want to Kei Kei to live with quality of life, experiencing the world as a normal kid, for example, traveling with public transportation and going to different places in the community. Four years ago, we completed a mission that our family traveled Taipei for vocation via flight. 

Lastly, we HOPE Kei Kei would be healthy as her physical condition would very much limit the activities she would do. She has been fancy about visiting Disneyland in Hong Kong. We are looking forward to be there after Covid-19 outbreak.

Pompe daughter: Wing-Kei Chung, 13 year, Hong Kong
Post writer: Mrs. Chung, mother of Wing-Kei 

Things that Have Brought Hope this Year

A message of Hope!

I am going to mention some things that have brought me glimmers of hope for the future. 

1. Gene Therapy: I have a friend whose son has Spinal Muscular Atrophy. He was one of the first kids to receive the new gene therapy and it has done wonders for him. She recently posted a video of him without his breathing device, he was just munching on a cheese doodle for about an hour like a regular kid! And my heart exploded with joy for them. I have hope that our young Pompe kids might have new options for treatment just like the kids fighting SMA.

2. Medical Assist Advances: Someone posted in our Pompe community about having a diaphragmatic pacemaker for which he attributes to having his life back. He can go places without all sorts of equipment and is very pleased to breathe unencumbered.

3. Connection to Community: I live seeing all of the things people are doing to try and live their lives to the fullest. I even saw a picture of a young lady who was fishing from her wheelchair. Her family put her in waders and wheeled her right into the creek! She looked so happy, and I have to say it brought me hope.

This is a photo of my Brothers and I from who knows what year. But it has that Pompe green, and was a very nice hike, which I am losing my ability to do much of so the picture brings me hope that I can overcome things and be a part of what I love doing one way or another!

I will continue to have hope and a will to live for as long as I can but in 2019/2020 these things I can rely on for hope and cheer. THANK YOU for hearing my story.

Ellen Williams 35 ~ Pompe Disease

Hope

My HOPE for the future is for the government of New Zealand to fund the standard of care treatment for Pompe Disease that is available in nearly 80 other countries.

Allyson Lock

Age 55

New Zealand

Allyson Lock, MNZM

President

New Zealand Pompe Network

My hope to be heard.

When I first thought about contributing towards this, my hope was based around a time before our current Covid crisis. Right now we all have to have hope that everyone will do the right thing to help flatten the curve and stay indoors as much as possible and I hope that our vulnerable Pompe community stays safe.

But in New Zealand even before the Covid crisis Pompe patients were living their own personal crisis. We are one of the very few countries that do not fund Myozyme. 76 countries do fund this treatment and we live every day with the hope that our government will fund this life-saving drug that prolongs quality of life and gives us all hope for our future.

So my hope remains the same, that when we emerge from this crisis our government will look to help its most vulnerable groups of society. Not just Pompe patients but all rare disease patients who desperately need medications to be funded.  We cannot be left to feel like second class citizens, we need our government to recognise its failing in supporting rare disease groups. It will be a new beginning and an uncertain one but I hope that the New Zealand government will finally listen to the 300,000 voices who so desperately hope they will be heard.
--
Samantha Lenik
Vice President
New Zealand Pompe Network
M: 00 64 211865091

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

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

Pompe is rare - Hope is not

Our HOPE is for Pompe known by all parents and medical professionals.
Our HOPE is for early diagnosis and early treatment.
Our HOPE is for accessible and affordable medicine.
Our HOPE is Pompe can be cured.
Our HOPE is no one left behind in our Pompe community.

Swathi Nisha Nair
3 years old
Infantile Pompe
Malaysia

We Hope to make a difference

We hope that we can continue Nate's legacy and have Pompe Disease added to routine Newborn Screening here in Australia. May every newborn be given the best possible chance to fight Pompe Disease and lead a normal, healthy life. May they run around, play and laugh. We hope that no more Pompe families have to say goodbye to their babies.

We hope to make a difference.

Maddy and Jenna

Australia 

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

Hope for the Future

I'm hoping for a cure for Pompe disease. For the expression of love for my lady friends with Pompe disease, I would want them receive the cure before I have the cure.

Bruce LeMond

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.

My hope for the future

My Hope For The Future is no longer a hope for a miracle. fortunately we have research on our side, which continues with good results. My hope, now, is for everyone to receive the same type of treatment and care by doctors, with no inequalities, regardless of where you live or  if you live close to a center of excellence, even within the same country. My hope is for all of us to receive the same treatments and care, by expert physical therapists, and by committed, dedicated and well-informed medical specialists. My hope is to be seen not as patients with a disease, but as persons, each one of us with different needs, like everyone does.

Elisabetta, 40, Italy

A treatment that helps everyone

My name is Sue Davey. I live in Leeds, England. I was diagnosed back in 2008 and immediately began ert with myozyme. Unfortunately my pompe disease continued to progress quite rapidly. I made the decision to stop treatment as it wasn't helping at all. Infact it made me feel worse for a few days after having it. I did try ert again after a year without it but again I had the same result. I've been continuing without treatment for around 5 years now. The disease progression slowed down on its own & I have been fairly stable for a around 3 years. My hopes for the future are that new treatments will be found that work for everyone. Treatments that reverse the symptoms of pompe disease. My biggest hope is of course that a cure will be found. I would love to be able to go for a walk again. Getting out in my wheelchair is ok but I really want to be able to go for a walk. I miss that so much. 

Better understanding of pompe disease and a cure is my biggest hope for the pompe community. 

Sue Davey 

Leeds, 

England

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

Star-shaped block by origami

Hello.
Now we are in a big trouble by COVID-19.
Not to be caught virus, we must not no-necessary touch with others.
This time, I decided to make Star-Shaped Block by origami.
It is able to create not touch others.

(Photos of making see below)

1. Start folding paper.
   How to fold in detail, see this site: https://weboo.link/article/7513?p=3
2. Create 12 units.
   Only green is not colorful that I used 3 colors.
   The colors are green, white, red, Italian flag colors.
   I wish this work is cheer for Pompe fellows, and Italian fellows.
3. Joint created units.
4. Complete!
   About 2 hours to fold units, and about 30 minutes to joint units.
5. Cherry on back.
6. Self photo.
   It is a little difficult to take selfie by digital camera.

I hope we will be recovered from this big trouble.
However we cannot contact in real, together we are strong.

Best Wishes, Ikuo Kuribayashi
Japan, age 57
Japan Pompe Association

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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

My Hopes

My Hope For The Future is personalized medicine and a personalized medical treatment to stop disease progression and to treat based on individual needs.

My Hope For The Future is multidisciplinary care delivered by a range of professionals working together as a team that addresses my clinical and psychosocial needs.

I hope also that no one in our community is affected by the current health emergency and we can all stay safe.

Happy International Pompe Day! 🍀

Fabio, Italy, 41

#HopeForTheFuture #HopeForPompe #InternationalPompeDay  #TogetherWeAreStrong    

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. 19^th, 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 1^st 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 1^st 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)