About Pompe Disease
Pompe Disease is a rare, inherited disorder characterized by severe, progressive muscle weakness and respiratory impairment. It is caused by mutations in the gene that encodes an enzyme called acid alpha-glucosidase, also known as GAA, which is needed by the body to break down glycogen – a stored form of sugar used for energy. Pompe Disease affects approximately one in every 40,000 births.
For more information about Pompe Disease, please visit the links below.
NIH Genetic and Rare Diseases Information Center – Information about Pompe Disease
NIH Your Guide to Understanding Genetic Conditions – Information about Pompe Disease
Pompe Disease Program Timing
Community Support & Resources
Where can you find support from the Pompe community?
Below are organizations dedicated to helping the Pompe patient community around the world. Each of them offers something unique.
Learn about patients and families affected by Pompe Disease.
Age 2* | United Kingdom
In Arabic his name means “beloved” and indeed that is what two-year-old Dawood is. “Everyone wants to wake up in the morning and see Dawood’s smile,” his mother, Fatima says, who often sends a video of Dawood’s first morning grin to her extended family. “We have a very supportive family.” When Dawood first wakes, he calls out softly to his father, Ibrahim. “Ih,” he’ll call in his gentle voice, until Ibrahim comes and takes him into bed with him and Fatima. “Then he’ll just stroke our faces for a while. That’s his comfort thing.”
Before Dawood was born, Fatima and Ibrahim lost two children shortly after they were born. The cause of their deaths was never known. At the moment of Dawood’s birth, Fatima knew that all was not well with her child. He never cried and did not want to eat. “He was a copy of the others who passed away,” Fatima explains. Fatima was determined to get Dawood the help he needed to survive. She refused to leave the hospital, telling the doctors, “I’m not going home till you check him. He’s not well.” They stayed in the hospital for a month until Dawood’s feeding was established. But after another month he stopped gaining weight and his body was noticeably floppy. “It was a very difficult time,” she says. Fatima left her job as a henna artist in order to stay at home and become Dawood’s full-time caretaker, fiercely determined to help this child make it.
Then, at four months, Dawood was diagnosed with Infantile Pompe, began enzyme replacement therapy (ERT), and his condition eventually stabilized. He is now able to live at home with his family and live the somewhat normal life of a young child, though he tires easily and his energy levels are often low. He is able to eat food by mouth, and loves chicken and yogurt, though his appetite is low and he gets most of his nutrients through a G-tube at night. Dawood is able to walk, but he cannot play the same as his brothers. “He doesn’t get upset,” Fatima says, “but he looks at his brothers and wants to do what they are doing and that upsets me. But I think he is actually a happy child. And that he’s less upset than I imagine.”
Dawood is known in the family to be the most excellent hug giver. “He gives the best hugs!” Fatima laughs. He loves watching Peppa the Pig on his mother’s phone, and particularly loves a video of his older brother giving him a stern talking to about why hitting is not OK—although you would never see Dawood strike another. His nature is noticeably patient and calm.
Along with his ERT, Dawood does physio work every day, and speech therapy. Fatima continues to be his primary caregiver, while also caring for his younger brother, Moosa, who is not Pompe affected. Fatima is grateful that Dawood is home with her, and she hopes that one day he will be able to eat well, and that his muscles will get stronger. “I don’t ask for so much,” she says. “But I pray for him to stay well enough to be able to stay with me.”
*Dawood was 2 years old when these photos were taken in 2015.
Age 13* | Florida, USA
“The little sounds Phoenix makes is like music to our ears,” George says about his son.
“We call them happy sounds. We know he’s healthy and content when he makes those sounds.” Getting to hear those sounds is one of the reasons why George and Gina decided to give Phoenix a trach, rather than keeping him on a ventilator mask — which hid his face, and silenced him.
At the time, Phoenix was three years old and struggling with his second bout of pneumonia. He had been in the hospital for four-and-a-half months and his breathing showed no signs of improvement. After much careful thought, George and Gina decided to do the tracheotomy. “Some are adamant about not getting the trach,” George explains. “Because you’re submitting to life support. You think you’ll be stuck in a bed on a ventilator for the rest of your life. Once we put the trach in Phoenix we knew we couldn’t go back, but I’m glad we did it, because he can still have a life and be on a ventilator. We see that now.”
Phoenix was diagnosed with Pompe at six months, shortly after George and Gina took him to a pediatrician to investigate why his voice was so noticeably weak and why he was having difficulty eating. The pediatrician noticed that Phoenix, three-and-a-half months old, had a heart murmur, and later a pediatric cardiologist determined the murmur was caused by Hypertophic Cardio Myopothy (HCM). No one knew what was causing the HCM and after two months of testing in Miami, the family still had no conclusive answers. They eventually found their way to a doctor at the University of Florida, who, via a fax of Phoenix’s EKG, was almost certain Phoenix had Pompe. They took a skin sample and two weeks later they received confirmation that this intuition was right.
“When we first got the diagnosis, we were really scared,” recalls George. “We thought we’re gonna have to fight this fight for however long it lasts, and we felt like the fight was separate from life. We thought one day we’ll be done fighting and then we can go live again. But the reality is that the fight is the life and you learn to embrace that. You start to be able to help other families who are newly diagnosed. Once you get used to it, things get much easier. We used to look at people with disabilities in a sorrowful way, and under our breath proclaim, ‘We are so lucky we are not like them.’ This is what most people do. Now, we look back the other way and say, ‘This is not that bad, in fact, it’s extremely rewarding and fulfilling.’”
“They always say the journey of 1 million miles begins with one step,” Gina concurs. “And if we embrace every step with hope, love and kindness, it all makes sense. Phoenix has brought patience on our journey and that has made each day lighter.”
Phoenix is now a creative, intelligent boy of 13 who, despite the trach, is very far from being stuck in bed. “It’s not like it’s easy to stay active,” George admits. “Every day is a big ol’ adventure. Before you leave the house, you have to put him in his wheelchair, change his ventilator settings, get his food right, load the van with all his backup equipment… It’s worth it, to help him experience the world.”
One of George and Phoenix’s favorite activities is to take their golf cart out for a spin on the golf course across the street from their house. “It’s like a nature preserve,” George says. “There are hawks and turtles and all kinds of things going on. He loves animals.” The golf cart, which is specially designed for Phoenix’s safety and enjoyment, was donated to them by the Make-A-Wish Foundation. “It’s not a common request,” George explains, “but the folks at Make-A-Wish saw that it could really help Phoenix expand his life so they awarded us the wish. In hindsight, they said it was a great idea when they saw how it helped him get out in nature.”
Phoenix also loves movies, particularly animated Disney films, which he’ll often pause at intense moments of the story and then advance it slowly, examining each frame with deep focus. “I’ve come to realize that he doesn’t watch videos the same way we do,” George says.
“There’s a Disney movie where a broom turns into an elephant, and there’s this part during the sequence where it’s part broom, part elephant. It happens in real time in less than a half a second, but he slows it down and watches it again and again, laughing like crazy.” George
smiles, thinking about his son’s joy. “There is only so much he can do in his body,” he says. “So in his imagination, he must be soaring.”
“Phoenix has paved our road,” George continues. “I don’t know what life we would have had without him, but he definitely changed everything for us.” For George and Gina, that road has been a challenging one, but in no way has it been absent of benefit or reward.
“I sometimes try not to focus on the outcome of his disease because as we all know we have no idea the length of the journey,” Gina says. “In doing so I have learned to live for each day. I listen more, rest a little longer, hug a stranger, give without getting anything in return and try to keep the circle positive. I am certain that Phoenix will leave the world a better place and in the end that is what is most important—not how long we are here but what we have done in the time we have been given. The disease will not take from him his mission but define it. He has shown us that the million miles we travel with him are a different kind of beautiful. I will always look for the magic in each new day.”
*Phoenix was 13 years old when these photos were taken in 2016.