NORTH MYRTLE BEACH, S.C. (WMBF) - Ali Sperling said her son Rowan seems like any other four-year-old: Curious, adventurous and loves Legos; however, he lives with a rare genetic disease that impacts their everyday lives.

“If you looked at Rowan you would never know that over his four years of life, he’s completed over 1,300 hours of breathing treatments and other therapies,” said Sperling.

Sperling said doctors diagnosed Rowan with a rare mutation of cystic fibrosis during his newborn screening shortly after he was born.

According to the Cystic Fibrosis Foundation, CF is a progressive genetic disease affecting the lungs, pancreas and other organs.

It causes thick sticky mucus that can trap germs and bacteria in the lungs and lead to infections.

Those with CF also must stay six feet away from anyone else with the disease to prevent cross-infection. This can cause germs difficult to treat and lead to a faster decline in lung function.

“It was very overwhelming. Even though my husband and I are both in healthcare and knew what Cystic Fibrosis was, we were unaware of the day-to-day regimen,” said Sperling.

Every morning Rowan starts his treatments by putting on his airway clearance vest and using his fish mask nebulizer.

“He really makes the most of his treatment time by watching movies or doing puzzles and building,” said Sperling.

Rowan does his treatment for 20 minutes twice a day, takes special medication and visits the MUSC Cystic Fibrosis Center in Charleston every three months.

However, there is no cure for CF and many treatments do not address Rowan’s specific mutation of CF, but relief could be on the way.

“There are so many treatments and therapies coming down the pipeline that we’re really hopeful for,” said Sperling.

This week the Food and Drug Administration approved Trikafta for kids ages 2-5 with certain forms of CF. The medicine is often called a “miracle drug” for anyone with CF.

“There’s so much hope that he may be able to live a relatively normal long healthy life, so we were just so excited,” said Sperling.

She said hopefully Rowan will be able to start the modulator drug in the summer and that there’s nothing she loves more than seeing her little boy live life to the fullest.

“Even though he’s been going to the doctor routinely since he was a baby and has had some scary experiences, he’s really so brave and resilient. We’re just really fortunate,” said Sperling.

Rowan and his family are traveling to Charleston Saturday for the Cystic Fibrosis Foundations Great Strides 5K walk for a cure.

You can support research for CF and their team Rally for Rowan by donating here.

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