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.
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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

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

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