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 ❤️