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

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/

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!

New Born

My name is Guo Penghe. When I was young, my physical education class never passed. When my friends were happy to dance rubber bands and kick sandbags, I could only look far away. I thought that one day, I can run like them, running very fast, jumping very High... I am very puzzled, why am I different from others? Until 2014 I was diagnosed with glycogen storage type II (Pompe disease). But the story I want to share must start from just getting into college.

In September 2007, I came to the university. I didn't expect a lung index to be "abnormal". I received a call,  "Are you Guo Penghe? I am Tian Xiaomeng, we have to get the pneumonia vaccine together." So there are only two unlucky person in the class taking the bus to get the vaccine together. Gradually, I and Xiao Meng are getting more and more familiar. One day, he rode the red broken car and asked me to go out. Then he actually showed me! What! I didn't think about it, I refused. However, later, we are still together.

Pompe in my life

My name is Guo Pengfei, 35 years old, a Pompe disease patient in Hebei province, China. “Pengfei” means bright future. I grow up in the countryside, realizing that the life is tough for the rural people. I wanted to change my life.

Because I didn’t know that I had a rare disease when I was a child, I just feel that I am always weaker than my peers, and the one who was bullied in the children. My living condition was bad, I couldn’t eat meat even once a month. I remember that the first time I ate banana, it seemed to be the fifth and sixth grades. When I was in my teens, I want to make money by myself. So in the hottest summer, I went to the cornfield to dig wild herbs. I climbed trees to collect cicadas to sell. I felt that I had to work on my own hands. In the busy season, I have to cook at home and wait for my parents to come back from the field.

I still have social value!

My name is Gong Xuemin. I am 32 years old. I am a nurse, a Pompe patient. I have been working in clinical work for 8 years. In these 8 years, I hold the principle that all patients deserve best treatment. I thought that I would always work like this in my life.

However, the reality is cruel. In 2017, I was diagnosed with Pompe disease, a disease that affects the whole body muscles and multiple organs because of the accumulation of glycogen. It is a rare disease. Since the onset of the disease, I went to the hospital of county, city, province, capital, finally diagnosed. During this process, the whole family has suffered, facing the misdiagnosis of the doctor, the critically ill notice, making my whole family bleak. On the day when I was diagnosed with a rare disease, my family were heavily in debt. Soon after, my brother was also diagnosed with Pompe disease, and the whole family fell into sorrow. This is not the end, but it is the beginning of another challenge. I am weaker and weaker every day, I can’t run, can't breathe at night, even sleep with the ventilator. Can’t lift my legs, can’t climb the stairs...... but I do not give up hope for life, I want to be strong.

Together, we are stronger!

My name is Li Wenwen, I have 5 young brothers and sisters, and come from a family of Pompe's patients in Jining, Shandong, China. In 2011, 3 of 5 family members were found to have Pompe disease, which is unfamiliar to many people, including doctors and experts. It is like a curse. Let us become weaker and weaker. Pompe's disease have efficient medicine, but it is too expensive. We and most patients only wait to die!

The curse has never disappeared. My parents spent all their savings in order to take care of  us and owe more than 400,000 debt. From diagnosis to now, my family lost a lot but also realized a lot. The suffering of life does not let us give up but let us become more and more brave. We accepted the challenge that God gave us. Beginning with the fear of this disease to understanding; and then to fight with this disease every day; our body changes all the time. Our muscles are weak, we no longer walk and jump normally; we don't breathe big breath; we can't go up the stairs; we can't bend up......our body is obviously degraded in 8 years. The functions of various organs of the body have gradually weakened. We don't have the strength to breathe, and we are accompanied by 3 ventilators every day. A lot of things that people treat it as normal, but are impossible for us!

Working on acceptance - living with Pompe

My name is Linn. I am a 35 year old woman from Norway. I am married and have two beautiful girls age 5 and 9.

I was diagnosed with Pompe's disease for approx. a year ago after several years of struggle to find out what was wrong with me. From being a fulltime working mother of two, to barely being able to walk, has been extremely tough, and I'm not even close to acceptance. But, it does (hopefully) come with time. But, over time, more "flaws" in the form of less and less functioning muscles, more and more reduced breathing capacity and more pain and more aids also come. So acceptance never feels closer, rather the opposite. But, now that I open myself up to say, "I have Pompes" - may suggest that I have actually come a little further with this acceptance 😉 I try to take the days as they come and are extremely grateful for all the wonderful people I have in my life - you lift me up and make even the worst days worth everything ❤️

I have Pompe, Pompe doesn't have me

Hi my name is Sean Kelly. I am 44 years old and live in Long Island, N.Y..  I was diagnosed in November of 2016 with Pompe disease after approximately a 10 year journey to find out what was going on with. I started to notice something was wrong when I began having problems going up stairs as well as having problems standing after sitting in a chair or anything that was low to the ground. I, like most other adult Pompe patients, went to several different Dr's and had dozens of test done before finally finding out that I had Pompe. I will never forget when I received the phone call from my Dr telling me they finally figured out what was going on with me. I went through a whirlwind of emotions, first I have happy and excited because after all these years I finally had a diagnosis and knew what was going on, then I was scared because I didn't know what to expect and didn't know anything about pompe. I then decided to do some research and turned to Dr. Google, and read the article that probably every other Pompe patient has read which states we will die within 3 years of being diagnosed. I immediately began to cry, thinking of my family and how would I tell them the news. I became depressed at first but then finally met with my Geneticist and spoke about ERT and felt a little more positive about things. I decided I wanted to learn as much as possible about this disease and educate people about it and bring awareness to it. I have found that there are very few Drs. that know anything about Pompe, some or more open about it and admit they don't know about it, but I have found a few that because of their ego will pretend they know about it but really don't. I have done walks to try and raise money to help find a cure Pompe. I continue to try to advocate for Pompe as much as possible to raise awareness.  They say that Pompe disease is extremely rare and it effects 1 in 40,000 people, but who knows how many other people are out there with Pompe and aren't aware. I may have my days that I feel horrible and am in pain but I never feel too bad to advocate for Pompe. I may have Pompe, but Pompe doesn't have me.

Moving on with Pompe

Since my diagnosis in January 2014 I have had my ups and downs, times where I have felt so worried about my future but also moments where, because of my disease, I have realised how strong I can be. For me living with Pompe is about focusing on the present, concentrating on the things I can do and not getting frustrated with what I can no longer do. My legs are my weakest muscle and no matter how frustrating that can be I still go for walks, attend a gym, socialise with friends, attend Military functions where I am standing for 1-2 hours, (no mean feat when you’re legs feel like jelly), keep up with the kids, and clean a house. I am also an advocate for Pompe, especially in New Zealand where we are still fighting to get treatment. I have had the privilege of meeting other Pompe warriors along the way and it always amazes me at how strong everyone is. It is a mental journey as much as a physical one and being able to accept it and move on and enjoy the now is so important. Happy Pompe Day!

Samantha Lenik
Vice President, New Zealand Pompe Network

Living life

Life with a progressive disease is possible. A positive attitude, support from family and friends, the Neuromuscular Centre in Cheshire, supportive Consultants and the right equipment. It is what you can do that counts ... Pompe or not! 😊

Andrea Duckworth, aged 51, England 

Moving On in Our Own Time

I was diagnosed with Pompe disease when I was 11.  It shocks me sometimes when I think about the fact that I have known I had Pompe disease for over 24 years now (I'm 36).  The "before Pompe" part of my life will always be 11 years., but the "after Pompe" part is going to continue to grow–hopefully for a really long time J

When I was diagnosed in 1995, I was still able to walk, and honestly didn't really realize there was anything all that wrong.  From my perspective I was just a klutzy bookworm that was bad at sports.  The year after my diagnosis was a big change–I hit puberty shortly after I was diagnosed and my symptoms rapidly progressed.  By the time I was 16 I hardly left the house, was in a wheelchair, had severe breathing problems and scoliosis.  I was very fortunate to be in the first enzyme replacement therapy (ERT) trial in the Netherlands–without a doubt in my mind it saved my life.

It also gave me back my life.  To get a little introspective, when I left the US to participate in the trial I was a child.  I was 16, but I was a child.  I had become very shy and had lost touch with all of my school friends.  With the exception of a few very close family friends and my family (both immediate and extended), I really didn't interact with people that much.  At that time I was still trying to cling to being "normal"–I didn't want to be seen with my bipap on by anyone but my parents and siblings, I didn't want to use a wheelchair. Instead, I chose to stay at home or really only go places where I didn't have to walk more than 50 feet or so (and that with a lot of help).

Cheerful and resilient

Having lived with Pompe in our lives for nearly 30 years; we have always been proud and grateful to have a son who has constantly moved on; taking many of life's challenges in his stride. This is the text of a school announcement at the age of 15:

The recipient of this year's award is a young person who has impressed everybody around them by their chearfulness and resilience in the face of illness and continual hospital treatment from a young age.

Coming to Bohunt School in Year Seven, concerns were expressed about how this pupil would cope in such a large and jostling environment. No one need have worried. This young person slotted right in, taking a full, active and independent part in school life and becoming a popular and respected member of the tutor group.

Last year, this pupil underwent a serious spinal operation, resulting in a long stay in hospital. On top of this, additional medical complications have meant regular treatment in The Netherlands and London, to test a ground-breaking new drug that could help others in a similar situation.

Throughout these difficult times, this person has never been anything other than cheerful and resilient. Never have they made an issue of their medical problems, nor used them as a reason for school work to suffer. Rather, they have faced up to daily life with unfailing cheerfulness, politeness and courage, supported by the tutor group and being a caring and supporting friend themselves.

In recognition of their courage and zest for life and school, I am proud and delighted to announce that this year's Rosemary Kermode Trophy is awarded to Jamie Muir of Year 10s.

And we remain very proud!

Allan and Barbara Muir, UK

My Family

My Family keeps me strong

Andrew Jackson, England, Aged 50

Keep moving with Pompe!

How does my life look living with Pompe?

It looks difficult from the outside. It feels difficult from the inside. Dis-ease = Not easy.

But when I think about my every day or week ahead it doesn't really cross my mind. My mind is filled with children, husband, family, friends, business, my dog, food shopping, exercise, sports, house cleaning, entertaining, concerts, movies, and catching up with friends. There isn't much room left!

At this particular time in my life I am happy. I feel positive. I feel fit, healthy and strong despite my legs being at their weakest.

Nordic Walking with Pompe!

Growing up as a kid and teenager I was very active and enjoyed playing tennis and riding a bike. With the muscle weakness caused by Pompe disease, I had to find something that I could still do, as well as enjoy.

Exercise has many benefits. It can ease muscle pain, lessen stiffness, and increase flexibility and mobility. It can also help stay active longer, have more energy, and improve physical and mental health.

However, exercise should be tailor made and take into consideration our specific needs, abilities, and disabilities, i.e., individualized adapted physical activity and the appropriate exercise for us, that we can also enjoy. That is why I tried and started practicing Nordic Walking!

Ma force et mon espoir: ma famille - My strength and hope: my family

Olivier Cavallero, 43 ans, Marseille, France

Moving on with Pompe - Pilbara Style

Hello the Pompe Community

My name is Roly Parsons and I was diagnosed with Late Onset Pompe Disease in April 2018 and began ERT in August last year. I live in the Pilbara region of Western Australia. The name of the small city I live in is Karratha and it is about 1000 miles north of Perth - my nearest capital city.

I was lucky enough to be diagnosed relatively early in terms of symptom progression. An early challenge for myself and family (which include a set of triplets and their slightly older sister) has been the fortnightly commute to Perth for my ERT. Living in a very isolated city, I am forced to spend two days away from home to access the treatment. My wife and support team at home (and employer) have managed these regular absences extremely well.

Together we are strong

This is a photo of me and my youngest sister at our weekly physiotherapy. We are sisters and we have both Pompe disease. We train every week two times at the physiotherapy. We love to be busy and keep us as strong as possible with good balanced exercises. We live in the Netherlands and our expertise centre will soon start with a research about a healty lifestyle for people with Pompe disease. As we know more, we let you know. Together we are strong.

Wilma Treur, Netherlands, 55 years

Boots don't have to be used for walking

Moving on with pompe, think out of the box !

We are greater than Pompe.

Lucy Golder, 60 years old, France