2022: International Pompe Voices

For International Pompe Day on April 15, 2022 we asked people in the global Pompe community to contribute a video illustrating how strength and resilience is gained through friendship. All recordings can be watched in the IPD 2022 playlist on the IPA YouTube channel.

• Experiences from Pompe Association in Japan - Watch on Youtube
  Four parents of Pompe children, and one individual with Pompe disease, discuss their experiences with diagnosis, treatment and challenges while living with Pompe disease in Japan.
   
  
• Pompe Journeys: Danish family - Watch on Youtube
  From Denmark, Anders, Andrea's father, discuses his daughter's journey; from Pompe disease diagnosis as an infant, through to teenage life, highlighting the importance of close family support.
   
  
• Father and Son discuss PompAbility - Watch on YouTube
  Allan Muir talks with his son about the series of short films they created together. The PompAbilty film series can be viewed from the Pompe Support Network website and also on the Pompe Support Network YouTube channel.
   
  
• IPD 2022 AMDA - Watch on YouTube
  Three of members of the AMDA (Acid Maltase Deficiency Association) (Marsha Zimmerman, Morgan Burroughs, and Tiffany House [President]) introduce themselves and talk a little about what they do for the AMDA and how it helps the Pompe community.
  Website: https://amda-pompe.org, email: info@amda-pompe.org
   
  
• Tiffany in conversation with her sister and family - Watch on YouTube
  A short conversation with my sister and her family about the strength I get from them. Be warned—we have little kids so it’s a little chaotic! :-)
  Tiffany from Texas
   
  
• New Zealand Pompe Network - Watch on YouTube
  In NZ we have formed great friendships among our Pompe families. With those connections we are able to support and understand each other even better. It is much easier to be stronger when you have people to support you.
  

• Happy International Pompe Day from the Italian Pompe Community - Watch on YouTube
  A short conversation in Italian about what strength and resilience mean to us. 

• Pim Pijnappel in conversation with Tiffany House - Watch on YouTube
  Tiffany House, AMDA President, discusses international cooperation with Dr. Pim Pijnappel, Associate Professor at the Erasmus Medical Centre, Rotterdam.
  
  
• Pompe Voices from France - Watch on YouTube
  This is a very moving conversation between Olivier and his close friend.  The conversation concentrates on what’s happening in the body and Pompe medication, and the difficulty of finding support. But Oliviers's friend is probably the person who best understands the impact of his condition, both in body and mind.
  
  
• Nina Raben in conversation with Tiffany House - Watch on YouTube
  Dr Nina Raben, who works at the National Institutes of Health (NIH), talks of her 30 year of dedication to understanding the science behind Pompe disease and its treatments. Her excitement and motivation comes from meeting and listening to patients who she regards as a very well informed community. Nina also talks of her support for the Ukrainian Pompe community and is impressed by the way the International Pompe community is supporting them.
  
  
• Priya Kishnani talks with Tiffany House - Watch on YouTube
  Prof. Priya Kishnani is well known to many people within the international Pompe community. Priya is Professor in the Department of Molecular Genetics and Microbiology at Duke University School of Medicine. She talks of the privilege of working with such a strong and friendly patient community, and feels it is a very special relationship that provides motivation to future generations of physicians and scientists.
  
  
• Ryan and friends say HI Pompe Day - Watch on YouTube
  Ryan, Steven, Alison and Nealie say "Happy International Pompe Day!"
  

Samuele grillo parlante

Ciao,
sono Samuele.
ho 11 anni e vivo a Trepuzzi, provincia di Lecce, Italia.
Lo studio mi impegna molto, ma trovo sempre il tempo per le mie passioni (musica, libri, teatro).
Qui partecipo ad un saggio della scuola di teatro, che frequentavo prima del Covid, ed interpreto il "Grillo Parlante" del "Pinocchio" di Collodi. Sempre avanti, non mi abbatto.
TOGETHER WE ARE STRONG. 💕

We can reach so far as our mind goes!

CHRISTOS SAMARAS

AGE 52

GREECE

"We should get stronger every day of our life to battle for our breath and stepping. This is our life, it is not an easy one, but it is beautiful and we must keep moving forward"

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)

Don't lose hope (you never know what tomorrow will bring)

Happy International Pompe Day from the Acropolis of Athens (Greece). The Acropolis of Athens and its monuments are universal symbols of the classical spirit and civilization and form the greatest architectural and artistic complex bequeathed by Greek Antiquity to the world.

My name is Penny, I am 51 years old and I have been diagnosed since 2002 because of my brother who also has Pompe.

I want to say that I am so grateful being a part of Pompe community all over the world. I found a new family who supports me and shares with me the latest insights into Pompe diagnostics and treatments.

Thank you all Pompe warriors for your stories and experiences, your feedback, your answers and guidance, your love and compassion, your emotional support and inspiration that helped me be a survivor for about 20 challenging years without any treatment.

Samuel from Worcestershire, England

Hello there!

This is our wonderful Samuel from Worcestershire, England who is 15 months old. Sam has been diagnosed with Infantile Pompe Disease two months ago and receiving his Enzyme Replacement Therapy at Birmingham Children's Hospital as an inpatient. Due to the late diagnosis, his Pompe is irreversibly progressed in his skeletal muscles, breathing and swallowing but his heart size has improved slightly since his treatment began. We are yet to go home since his diagnosis and unsure when that will be, but we can't wait to make up for lost time over the covid lockdowns and make some new, precious memories with Sam, our family and friends during what's left of his short life. Wishing every parent going through similar circumstances all the love in the world, as we understand the heartbreak and devastation you must be feeling. 

Graham, Harriette and Little Samuel x x x

Parco Le Risorgive

 

Hello, my name is Giuseppina, I am 52 years old, I am of Calabrian origin but I live in the province of Verona. I have been a Pompe patient for 22 years. I am sending a photo taken in the Le Risorgive park located in Castel D 'Azzano (VR), the town where I live. I wish all of us a happy anniversary. 

An affectionate hug.

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

Happy IPD from an English Arboretum

Happy International Pompe day from the Sir Harold Hillier Gardens and arboretum in the UK. (near Romsey Hampshire)

Comprising 72 hectares accommodating over 42,000 trees and shrubs in about 12,000 taxa, notably a collection of oaks, camellia, magnolia and rhododendron.

A big hello to all my friends in the Pompe Community, in the UK and abroad . I will never forget you all and the support I have received over the years.

Many of you I will have met at conferences or at meetings.

A big thank you also to all the medics involved in the Pompe story which we joined in 1991 before any treatment options available.

Your dedication and expertise lead to treatment today and will in time lead to future developments.

Together we are strong !

Barbara Muir
Trustee/ and proud to be the Mum of Jamie Muir.
Pompe Support Network
Pompe.uk

Great battles are only given to great warriors. Gabi is one.

Gabriel ("Gabi") is a child full of energy, who likes to play with those around him. Despite not being able to walk, he soon learned to move by dragging his tail, always trying to do what others do. His resilience and overcoming spirit are an inspiration for those around him. Gabi has infantile pompe disease, but the disease will never define him ... If he is unable to walk, we will help him fly like his favorites superheroes.

Gabriel Moreira, 3 years old
Portugal

What the world sees now, is Pompe, treat Pompe...

Inspired by Banksy, his strong visual messages often reproduced in this format, I created this document for 2021. These are the logos of Pompe Disease worldwide. 

Lucy, 62 yrs, France.

Treatment Without Borders

When I was young, I wanted to see the world, so I went on many adventures and travelled extensively around the world. My favorite parts of the world were/are Asia and Australia.
At some stage I felt like settling for a while. I found a great place and a good job in Thailand. I had the chance to get to know the people, the way of life and a lot more. A few years in the land of smiles changed me and my wish was to live there forever.

In 2010 I got diagnose with Morbus Pompe. To receive the enzyme replacement therapy in Thailand is from the field of medicine absolutely no problem; however, nobody would cover the cost. For my insurance, the cost was too high. After trying many possibilities, I found no other solution than to pack up my belongings and to move back to Switzerland. After living in Thailand for 14 years, my wife and I did so with a heavy heart. In 2014 I could start with the treatment in Switzerland.

At least I can receive the enzyme replacement therapy. From doing some research about Morbus Pompe I learnt that there still are countries that do not support their citizens who are diagnosed with Morbus Pompe.

Therefore, my hope for the future is that all affected people around the world will be able to get support and be able to receive the proper treatment. And my dream is that my wife and I will be able to move to Thailand again because we miss it a lot.

Maybe one day the borders for the support and treatment will be open.

Richard Felber, 54

Switzerland