Brandon Twp.- All Steve Masters wants is to be able to communicate with his son.
Two years ago, Jonathan Masters seemed to be like many other little boys? he loved nature and being outside. He liked school and showed an aptitude in math. He collected rocks and stuffed animals. He loved his cat. He enjoyed fishing, jumping on his trampoline, and riding dirt bikes.
But that Jonathan is only a memory now. On a recent warm, sunny day, Jonathan is inside his home, in a wheelchair. His eyesight and hearing are severely impaired and he is unable to communicate. He, and his family, which includes mom, Lisa, and siblings Elisabeth, 6, and Steven Jr., 14, have been devastated by adrenoleukodystrophy? a neurological genetic disease they never saw coming.
Steve and Lisa Masters are desperate to help their son and hope to be able to take him to Mexico to obtain stem cell therapy that is unavailable in the United States.
‘I know Jonathan will never be the same as before,? says dad, Steve. ‘The Jonathan we had before is gone. This is a different Jonathan. But if we can get him back to where we can communicate, that would make me happy.?
Jonathan had just finished fourth grade at Harvey Swanson Elementary in June of 2005 when his parents noticed hearing loss in their son, his first symptom. At first, they thought their 9-year-old was just being uncooperative, not listening to them, but they soon realized it was something more.
On Sept. 16, 2005, a Friday, an MRI detected the signs of ALD.
According to the Adrenoleukodystrophy Foundation, ALD is a genetically determined neurological disorder that affects 1 in every 17,900 boys worldwide. The presentation of symptoms occurs between the ages of 4 and 10, and affects the brain with demyelination, an inflammatory response. Nerve cells throughout the brain are destroyed.
After Jonathan’s diagnosis, Steve Masters spent the next few weeks in front of his computer, researching and finding out everything he could about the disease.
‘ALD prevents the body from breaking down long chain fatty acids,? he explains. ‘The body thinks there is an infection and causes inflammation in the brain and destroys the myelin sheath that covers the white matter of the brain. Without the sheath, your brain works, but can’t get the information out.?
According to the ALD Foundation, boys develop normally until the onset of symptoms occurs. Symptoms typically rival those of attention deficit disorder before serious neurological involvement becomes apparent. The symptoms progress rapidly and lead to a vegetative state within two years, and death anytime thereafter.
?(Doctors) said it had progressed too far and there was nothing we could do,? Steve says, noting that outwardly, Jonathan’s only symptom was the hearing loss. ‘They said to go home and wait for him to die.?
Determined to fight for their son’s life, the Masters traveled to the University of Minnesota in October. A new MRI showed the disease had progressed and was 10 times worse since the initial MRI one month before.
‘I thought the day the pediatrician told us he had ALD was the worst day of my life, but this was worse,? said Steve. ‘I was physically ill. But then the team said they could try an experimental drug.?
If the Masters had known Jonathan had ALD before any symptoms had manifested, they could have tried Lorenzo’s Oil, a drug which stops progression. But unless a family member has the disease, it would typically never be suspected (later, tests on the family revealed that Lisa is a carrier of the disease. Elisabeth is also a carrier, and Steve and Steve Jr. are unaffected).
Instead, they tried the experimental drug, mucomyst, in conjunction with a bone marrow transplant. The drug soaks up free radicals in the brain and what Steve calls the goo from long chain fatty acids.
Steven Jr. was found to be a 100 percent match for bone marrow, and in December, they began chemotherapy on Jonathan at the University of Minnesota. Dec. 30 was transplant day.
The family stayed at the Ronald McDonald House in Minnesota.
At the hospital, Lisa would stay with Jonathan during the day, and Steve would be with him all night.
The disease progressed some after the transplant, but not as much as it would have. Without it, says Steve, Jonathan would not have lived.
The family returned to Michigan 70 days post-transplant, after having spent nearly six months in Minnesota. Lisa had quit her job as a pharmacy tech (she has since resumed working) and Steve had been on leave from his job with the Oakland County Drain Commission.
‘Financially, something like this wrecks you,? says Steve. ‘Our family and friends raising money kept us going.?
At home, Steve and Lisa learned how to take blood pressure readings and put a stomach tube in their son, more than they ever wanted to know. They had a few good months after arriving home March 25, but then Jonathan’s condition began deteriorating. He was unable to hold up his head or sit up. He ate less.
Now, he can see some, and hear some. He doesn’t speak, but a few months ago, told his mother ‘stop? when she was cleaning his eyes.
Sometimes he cries for no reason, or breaks out in laughter.
‘The disease does not affect the gray matter, where memories are stored,? says Steve. ‘We don’t touch him if he is laughing, we don’t want to jolt him out of it.?
The Masters hope for the day when they can talk and laugh again with their son, who turned 12 on Wednesday.
Their best hope, says Steve, is for the stem cell therapy he cannot get in the U.S.
They wish to seek help from Dr. Fernando Ramirez in Mexico, who has helped children with other leukodystrophies. The cost for a one-time treatment of stem cells is approximately $35,000 with the goal of repairing damaged nerves.
‘I don’t know what it will do or if it will do anything,? Steve said. ‘But if we don’t try, we’ll never know. We want to help him however we can.?