Maverick’s Story
From Maverick’s mom…
Sometimes, something will happen in life that will change life as you know it and shake you to the core. For us, a Leukodystrophy diagnosis did just that.
In January of 2020, our world was shaken when our 2-year-old son Maverick was found to have a genetic mutation known to cause a type of Leukodystrophy.
His health complications and hospital admissions began at just one month old. As he grew, he struggled with reoccurring respiratory distress, feeding difficulties, developmental delays. His medical team grew and became increasingly concerned.
A hospital admission at six months old led to further testing. He had a brain MRI that came back abnormal, was diagnosed with moderate acid reflux, reactive airway, low muscle tone, anisocoria. A swallow study showed that he was aspirating into his lungs. He was tested for muscular dystrophy and cystic fibrosis. Both came back negative.
Maverick underwent surgery at that time to have a feeding tube placed and that’s when the speech, occupational, and physical therapies began. Despite the tube feeds, he struggled with aspiration, reflux, and weight gain.
Just after his first birthday, during another hospital admission, Maverick underwent another surgery to have a Nissen Fundoplication to treat his acid reflux and aspiration.
His developmental delays became more noticeable and we continued to follow with multiple specialists and work hard in therapies. He also started Vital Stim therapy, which uses electrodes to strengthen his swallowing muscles.
At 17 months when he wasn’t walking we were referred to genetics. Initially they decided to run a Chromosome Microarray. After several months the results came back negative. We thought we had eliminated the worst possibilities by eliminating muscular dystrophy and chromosome abnormalities. But as his health challenges and delays persisted after he turned two, genetics said to me “he’s got such strong genetic components, I would like to do another test.”
A WES (whole exome sequencing) test.
Little man was poked again for more genetic samples which were sent off. Another five months went by before I got the call.
“This is the genetics clinic and we got Maverick’s WES results. The doctor would like to schedule a clinic visit to go over the results - have someone come with you.”
I knew right then it wasn’t good…and as much as I didn’t want to schedule that visit, we got in within a week.
“Hypomyelinating Leukodystrophy — don’t Google it”
“Expect that at some point he will lose function and motor skills”
“There is no treatment”
I stopped hearing anything after that. He was diagnosed just two months before his third birthday. I remember wanting so bad to just cancel his birthday and never acknowledge another one.
Eight months after this diagnosis we flew to CHOP in Philadelphia to the Leukodystrophy Center of Excellence. I wanted them to have a treatment— a simple medicine he could take to just make it all go away, so he could grow up and live a long, healthy life. But that wasn’t reality. CHOP confirmed his diagnosis and accepted him into their research program as a patient.
Maverick is eight now, and is followed by several medical specialists, requires daily cares, medications, tube feeds, and mobility aids. He requires services, modified days, special transportation, and an IEP at school.
He has had continued speech, occupational, and physical therapies on and off all these years. His respiratory health has declined to the point of requiring daily airway clearance treatments, (shaker vest) cough assist, suction, oxygen and BiPap.
While I often struggle to share our story, if it can make even one person feel less alone, then it’s worth it. Though Maverick has faced many obstacles — several hospital admissions, ER trips, clinic visits, medical tests and pain — you would never know it by looking at him. Because of his home medical equipment, GJ feeding tube, and the dedication of his caregivers and medical team, he “looks so good.”
Even in the hardships, there can be beauty. We have met so many incredible people, made many inspirational connections, and have an incredible support system.
We chose to persevere and make memories we can hold onto forever no matter what Leukodystrophy takes away!
