This piece was written by Brad Crittenden. Brad is the Executive Director of the Canadian Association of Pompe (CAP), a national organization focused on increasing awareness of Pompe disease, helping patients access therapies, and supporting research.
Noah lives in Whitby, Ont. He loves swimming, the outdoors, and travelling with his family. Of course, like most kids, he loves video games, too. This is an exciting time for Noah, as he’ll be starting high school next year. It’s a much bigger school, though, so he’s shopping for a new wheelchair to help him get around.
Noah has Pompe disease, a rare genetic disorder that leads to the toxic build-up of certain molecules in the body. This causes progressive muscle and organ damage. In Noah’s case, it makes it difficult for him to walk and breathe. Many babies with Pompe disease are born looking quite normal, but unrecoverable damage is already occurring.
Before Noah was diagnosed with Pompe disease, his mother Trish noticed that he wasn't reaching the milestones that his siblings had. He was frequently sick and he seldom slept more than an hour at a time. Doctors dismissed her concerns, saying that children are all different and will do things in their own time. But Noah’s trouble sleeping was later determined to be the result of him having difficulty breathing when lying down, which is a common symptom of Pompe disease due to a weakened diaphragm.
When he was two years old, Noah was so sick that his grandmother insisted that he be taken to the hospital. She was right to insist – Noah had respiratory syncytial virus (RSV). Intravenous antibiotics did nothing to help him so the doctors had to dig deeper. An ultrasound showed that his heart and liver were enlarged so he was immediately sent to Sick Kids Hospital in Toronto. After three long weeks of testing, Noah was diagnosed with infantile-onset Pompe disease. That diagnosis finally explained the symptoms that he had been experiencing since he was born.
Without being diagnosed and treated, babies with infantile-onset Pompe disease don’t typically survive their first birthday. Noah was fortunate to evade that norm, but his little body was suffering. This is why the Canadian Association of Pompe is advocating for earlier diagnosis through newborn screening.
Having a child diagnosed with a rare disease affects the whole family. Constant visits with doctors and therapists are like a revolving door that never stops. Trish’s focus became giving Noah as normal a life as possible. She had to learn as much as she could about a rare disease that few people have even heard of.
“Without being diagnosed and treated, babies with infantile-onset Pompe disease don’t typically survive their first birthday.”
Most of the visible symptoms of Pompe disease are a result of muscle weakness. Babies might appear floppy or may not develop strength like other babies. Noah was never able to crawl as a baby. Looking back, Trish can remember being told he didn’t play with the other kids during school breaks. He would just lean against a fence or railing and watch the other kids. He was already losing his ability to walk.
Since being diagnosed, Noah has received enzyme replacement infusions to help reduce the toxic build-up of glycogen in his body. These infusions last for five and a half hours and are administered every two weeks. The treatment doesn’t cure Noah of the disease, but it does slow down the disease’s ability to damage his muscles and organs. Since it’s difficult to restore damaged muscle, the treatment works best if it can be given early in life, before the disease has progressed too far. For infantile Pompe disease, early diagnosis is life-saving.
Although the majority of newborn babies in the U.S. are screened for Pompe disease, babies in Canada are not. If you or your child are experiencing progressive muscle weakness and shortness of breath, especially when laying down, ask your doctor if it could be something like Pompe disease. Visit pompecanada.com to learn more.