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
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.
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
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.
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.
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.
Head of Patient Advocacy
Spark Therapeutics
3737 Market Street
Philadelphia, PA 19104
O: 215-220-6288
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.
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
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
