Western Slope toddler faces rare disease

By  | 

BATTLEMENT MESA, Colo. While many are spending their Independence Day celebrating the birth of our country, one Battlement Mesa family is celebrating their three year old son who was diagnosed with a rare form of muscular dystrophy.

James Provstgaard has been dealing with health issues since he was born, but after his recent diagnosis answered some questions for his parents doctors also found out he has a rare gene mutation that has never been seen.

"Its been rough but he's an amazing child always happy," Amy Provstgaard, Mother.

The disease affects the toddler's eyes, brain and muscles. He's not able to walk or talk right now and doctors don't know if he ever will be able to, but his parent's say they get excited about every milestone no matter how big or small, "We really celebrated when he rolled over for the first time we celebrated his giggle and he recently learned how to hold his head up that was really awesome," Amy Provstgaard.

Taking care of James comes with a lot of responsibility. The disease makes it hard for him to swallow food so he eats a prescribed formula through a feeding tube. It's mixed with medicine that stops him from having seizures from another genetic disorder, but regardless of James's dependency on his parents they say they want him to feel like any other kid his age, "We don't want him to be singled out or separated we want to treat him as normal as possible," Alex Provstgaard, Father.

The next step for James and his family is taking a trip to Iowa to do some genetic testing as part of a clinical trial. While they don't need help with medical bills they are taking donations for trips to see specialized doctors.

For more information on how to help, visit https://www.giveforward.com/fundraiser/r8x4/james-provstgaard-clinical-trial-expenses

Comments are posted from viewers like you and do not always reflect the views of this station. powered by Disqus