Luke Embry

He pulled the fire alarm.

Sending everyone at church into a short-lived frenzy, the little boy threw his hands up in the air, wide-eyed, terrified, confused by the piercing sound.

“I guess the red button was too much of a temptation for him,” his mother, Mieke said.  “Now we look back and laugh.  He was a hoot.”

At three Luke Embry feared nothing.

“He was into everything.  If something was child-proof, he found a way to get into it.”

From pulling a jug of tea out of the refrigerator and sloshing it everywhere as he carried it down the hall to hiding from his mother when he decided to ride an elevator, Luke lived in a world of adventure.

“He was always running, always on the go,” his father Grant said.  “There was no stopping him.”

 Luke delighted in singing songs he learned in his Bible class, watching Barney the purple dinosaur on TV and hitting the golf ball with Grant.

“There was a golf course behind our house, and he would walk three holes with me.  He loved hitting the ball so much, he would cry when it was time to go inside,” Grant said.  “I thought we were going to have another Tiger Woods on our hands.”

Now 12, Luke retains the intellect of a one-three month old child and depends on Grant and Mieke to bathe him, change his diapers and dress him.  Unable to walk Luke relies on a wheelchair for mobility.

As a baby Luke suffered from chronic ear infections.  His parents constantly gave him antibiotics, hoping for relief.  When Luke was nine months old, the doctor put in hearing tubes

“He would make noises but there was no babble,” Mieke said.  During the next two years, the Embrys took Luke to speech therapy, but he continued to struggle.  “He would not listen.  It would not register when you told him no.  It was like there was a connection missing.”

In November 2001 Luke was diagnosed with a hearing loss.  By the time Luke reached age four, Mieke’s list of concerns continued to grow.  

“When Luke had his hearing aids put in I was worried girls would not want to date him in high school.”  But Mieke soon realized dating would be the least of Luke’s problems.

Luke wrestled with abnormal sleeping patterns.  “He would whine and pace the floor until he just dropped.  This started as early as 4 p.m., and continued until two or three in the morning,” Mieke said.  “He was so uncomfortable but couldn’t tell us what was wrong.”

With a doctor’s recommendation, the Embrys took Luke to see neurologist, Dr. Holly Mussell.  The neurologist took six vials of blood.  

“We are putting together the pieces of a puzzle,” Mussell told them.  She pointed out Luke’s abnormal course facial features and wiry hair.

The doctor called on a Tuesday.  Grant answered the phone, listening as the neurologist told him when to meet her at Children’s Hospital.

“I looked at Grant like he had two heads when he hung up because he didn’t ask any questions.”

“I kind of got the feeling she didn’t want to talk about it,” Grant told Mieke.

Mieke researched Luke’s symptoms and behaviors online and discovered two possibilities, including Sanfilippo Syndrome or Mucopolysaccharidosis Type III (MPS). Sanfilippo Syndrome, a neurological form of MPS, is diagnosed because the body lacks an enzyme that breaks down sugar molecules, which build up on the brain.  The brain starts shutting down, causing developmental regression.  Life expectancy is 10-14 years.

“As rare as it was, I don’t know how I put all that together,” Mieke said. “We went to the doctor’s office that Friday, and when I told her what I found, I expected her to say it was nothing that serious.  Instead, I thought her mouth was going to hit floor.  It took her a minute to process what I said.”

Mussell informed the Embrys that a doctor at UAB diagnosed Luke with MPS.  To confirm the diagnosis, Mussell took a skin biopsy and conducted a full body bone scan.  The Embrys waited more than two months for the results, receiving final confirmation in December 2003.

“When Luke was diagnosed, someone said to me, ‘You don’t realize the blessings that are going come from this.’  And I wondered how there could be blessings when my child has just been handed a death sentence, and there is nothing that can be done.  But they were so right.”

The Embry family moved to Alabama in 2001, leaving behind friends and family in Kentucky.

“But our church family here has been such a blessing to us,” Mieke said.

Earlier this month, church friends and family showed their support for Luke in recognition of National MPS Awareness Day by coming together and wearing purple, the color of the MPS ribbon.

“Seeing that sea of purple across the auditorium was overwhelming.  There is not a lot many people can do, but this just meant so much to us,” Mieke said.  

Luke turns 13 in June.

“Thirteen is a milestone.  It was something we weren’t sure we would ever see.

“When you’re faced with something like this, you can choose to live in denial or you can choose to live in the moment and realize every moment you have is a true blessing from God,” Mieke said.

No longer able to process pureed food, Luke recently had a G-tube put in, allowing him to receive the necessary fluids and nutrients.

“Putting the G-tube in is the hardest thing we’ve had to do so far,” Mieke said.  “It’s difficult admitting we are to that point, but we knew it was the right thing to do.

“We don’t live each day thinking our son is going to die.  There are no regrets.  It is what it is,” Mieke said.  “You accept it and move forward.”

Mieke still changes diapers.  Grant still lifts Luke in his wheelchair in and out of places that are not handicap accessible.

“Our prayers have always been that Luke be comfortable and happy,” Mieke said, “And he is happy.  I know that every time I hear him laugh.”