Every week, a small blond boy walks through the double doors of OHSU Doernbecher Children’s Hospital’s hematology oncology clinic. It’s Axel, and he’s here for his “muscle juice” (an enzyme replacement therapy). Below, Axel’s mom, Colleen, shares what it was like learning her son has a rare disease and what the future holds for their family.

The diagnosis

Our third child, Axel, was born in February 2018. I had a healthy pregnancy and delivery, but he failed his newborn hearing screening. What we didn’t know at the time was that hearing loss, in addition to respiratory insufficiency and a specific type of heart disease, is one of the symptoms of an extremely rare inherited disorder that that affects about 1 in 40,000 people in the United States.

We took Axel to a nearby ER when he was just two days old because we were concerned about rapid breathing. He was transferred by ambulance to another hospital and the next day – which was Valentine’s Day – he was diagnosed with hypertrophic cardiomyopathy, meaning parts of his heart were severely enlarged.

We went home, but he had another rapid breathing event during a well child visit later that month. At that point, we were transferred by ambulance to the Doernbecher PICU (Pediatric Intensive Care Unit), where they tried to determine the cause of Axel’s cardiomyopathy. They recommended we see a genetic doctor, which led to Axel’s eventual diagnosis at three weeks old: infantile-onset Pompe disease.

In the U.S., a “rare disease” is defined as a condition that affects fewer than 200,000 people.

One of the first things we did, of course, was Google it. The search results were really scary, but we know now that’s because they were outdated – and because it’s such a rare disease that presents differently for each kid.

The plan

Together with Axel’s team, we came up with a game plan. Pompe disease is a glycogen storage disease – basically, Axel’s body doesn’t produce enough of an enzyme that breaks down glycogen (a stored form of sugar). When he was 5 and a half weeks old, Axel started an every-other-week enzyme replacement therapy, and he moved to weekly infusions in November 2018.

Pompe Disease testing was added to the Oregon newborn screening in October 2018.

Ten or 15 years ago, Axel’s “muscle juice” therapy didn’t exist – that’s part of the reason the Google results were so alarming. Today, outcomes for patients like Axel look so much more promising.

I remember a nurse said to me early on, “The body is an amazing thing, and it does miraculous things. Never lose hope and faith – there is a bright future for your child.”

The team

Doernbecher has taken such good care of Axel, but they’ve also taken care of our whole family, including our older children. Axel’s big brother Jack and big sister Ruby have such a positive association with the hospital as a result.

Five months after beginning treatment, we found out Axel’s heart had returned to normal. We just celebrated Axel’s second birthday and, for the most part, he’s hitting his milestones. It’s been a real journey, but he’s been a real inspiration. We are so thankful for the joy he brings to our world, and we are inspired by his strength of spirit every day.

We are in awe of the progress Axel has made since those early days, and incredibly hopeful for his future. We continue to be so grateful to all of Team Axel for helping him be the strong and joyful kid he is today!

We especially want to thank Dr. Brendan Kelly, Dr. Amy Yang, Dr. Andrew Zigman, the teams in the infusion clinic, the PICU and on 10South and 10North (special shout-outs to nurses Nora on 10N and Angela in the clinic!). They saved Axel’s life.

If you’re a parent or caregiver for a child with a rare disease, trust in the care you’re receiving and know that there can be a bright future for your child. Axel has taught all of us the tremendous power of unconditional love and strength through any challenge life may bring.