NGLY1 Profile: Mason, age 5

Patient: Mason, age 5

Parents: Sara and Mark

Sibling(s): none

Mason is five years old and was born at 34 weeks via emergency C-section because of bradycardia episodes, he was measuring small and my fluid level was dangerously low. He was a relatively 'normal' preemie, staying in the NICU for 24 days, his main issues were jaundice, finally passing the merconium, and learning to eat and hold his temperature. He was on oxygen for only the first 24 hours and progressed somewhat normally in the NICU. He had a Hirschprung's test done because it took him longer than 7 days to pass the merconium; but that test came back negative.



Mason came home weighing 5lbs, he cried almost all the time when he was awake, wouldn't sleep for longer than 45 mins at a time and projective vomited almost everything he ate. He was never very good at latching on, so I pumped for 3 months and bottle fed him, until putting him on specialty formula, all of which didn't help. He was tested for allergies and other than having a sensitive to dairy, there was nothing.

Mason never reached any developmental milestones and it wasn't until he was evaluated by Easter Seals and recommended to a neurologist that we knew something was very wrong. The neurologist suspected seizures from the very beginning, noticing his quick eye movements (I honestly didn't believe him because I never saw them). He also never stop moving - ever. It was like he was constantly twitching, but never the same motions over and over, just like his body couldn't ever relax. He was put on Keppra, and obviously because I didn't see the seizures in the first place, I never saw an improvement.

Mason was always a heavy breather, in fact we would joke that he was like Darth Vader. He went in for an MRI after the neurology visit and they refused to put him under because of the stridor. He saw an ENT who thought he just needed to grow a little bigger and hopefully his airway became strong; they attributed the stridor to the reflux. He finally got an MRI, and overall his brain was 'smaller' than normal, but there was nothing significantly glaring - little did I know this meant absolutely nothing!

At about 13 months, he was hospitalized for severe breathing issues; he sounded like he was breathing from a straw. It was at this 5 day stay where they did the muscle biopsy, found that he has only one kidney, and still attributed the stridor to severe reflux; they put him on feeding through an NG tube and his breathing seemed to get better so they sent us home. (Not to mention that they stuck him one million times trying to get an IV so they could fly him, then another million times to do tons of tests...he's one of the toughest little guys ever). They sent us home on a steroid, once he was off the steroid, the breathing got worse, so he was sent back to the hospital to get the Nissen Fundoplication surgery. The hope was that if he physically couldn't throw up, his airway wouldn't be burned by the acid and then his airway wouldn't be inflamed and breathing would improve. During the Nissen, they did a livery biopsy to check to Mito disease. It was after the muscle and liver they told us he had mito - I never realized that when they classified him with this it was because he had too much mitochondria!

Unfortunately, after another round of steroids and being sent home, his breathing was still awful, so they told us he would need to be trached. One month later, he had his trach surgery. We were told he would be kept asleep for a week so that he could heal and wouldn't pull at his trach - they kept him under for only a few hours after surgery and when he woke it was one of the most heartbreaking moments a mother could have, as I'm sure you can relate. For the first two months, we couldn't leave the floor, it was like the best moment of my life when we were allowed to walk around the entire hospital. In total, we were in the hospital from August to December. As difficult as it has been to get used to the trach, it has allowed him freedoms he never before had now that he can breathe.

Over a year ago we noticed his head drops and eye rolls getting significantly worse, mind you we took him off the Keppra, but thought we were ok because we never could see the seizure. Within 10 mins of his EEG, the on-call neurologist was called and Mason is literally having thousands of seizures a day; most go without anyone noticing, but they definitely get in the way of his development.

Mason cannot walk, he cannot talk, there is a 'light' on, he recognizes people and places, knows what he wants and can communicate without words and he smiles like it's Christmas watching Mickey Mouse. He can crawl and sit on his own and pull to stand. Overall he is the most incredibly loving and strong little boy.