Parents struggle with rare disease

By George L. Jones

The Selma Times-Journal

Austin McDonald has had a very eventful 2 1/2 years on earth.

After his parents, John and Stephanie, spent the better part of his young life searching for a diagnosis to his unusual ailment, they finally found the answer.

In March of this year, Austin was diagnosed with Lowe Syndrome.

Since there are only about 150 known cases of the disease in the entire world, the McDonalds have fought an uphill battle to find information, treatment and a cure.

They are currently in the process of joining the Lowe Syndrome Association, a support group made up of parents, relatives and friends of children with the disease.

“We’re going to be involved pretty soon,” said Stephanie McDonald. “A lot of the parents have come together and helped one another. I think it would be a really good thing. I don’t know if Austin is the only child in Alabama with Lowe Syndrome, but we’re trying to find out.”

Lowe Syndrome – sometimes confused with Down Syndrome or other neuromuscular disorders – is also referred to as oculo-cerebro-renal syndrome because it affects the eyes, brain and kidneys. It is a hereditary disease that only affects males.

A defective gene that results in the deficiency of an enzyme called PIP2-5-phosphatase causes it.

Dr. Charles Lowe was the senior member of the medical group at Massachusetts General Hospital that described the disease in 1952.

When Austin was nine days old, he had to have cataracts removed from both his eyes. After another surgery that same month, he had contacts prescribed.

Five months later he had two more surgeries on his eyes because he developed glaucoma.

At three months of age, his parents noticed he had no muscle control. Now he can’t walk or crawl and is still in diapers because he can’t potty train. His speech is limited to a very few simple words

In March 2004, he began having seizures and was rushed to Children’s Hospital. His parents learned there he would have to have Adrenocorticotropic hormone (ACTH) injections for the next 12 months.

“I ran downstairs to the hospital pharmacy to pick up the rest of the medicine for us to take home thinking the co-pay for our insurance would be $20,” McDonald said. “The medicine would cost us $293 per vial – after insurance had paid. We had to have five vials of this stuff. I went back to Austin’s room and broke down into tears. Friend and family helped us with the other $900. His last seizure was actually after his first two doses of this medicine.

“Thankfully, Austin has had no seizures since that day.”

Despite that, none of Austin’s other symptoms desisted, and none of the other diagnoses doctors had given were correct.

A year and a half had passed, and it looked like the McDonalds might have found the answer they had been looking for.

After a full-body X ray, amino acid profile and other genetic testing were performed in Birmingham this past October, doctors suspected Lowe Syndrome might be the answer. The results of a DNA test in March confirmed the diagnosis.

The family had the relief of knowing what it was dealing with but still had to figure out how to deal with it.

Before Austin was born, Stephanie had not planned to be a stay-at-home mom, but now feels she needs to in order to give him the care he needs.

At this stage, that does not look like a possibility.

“We’re not very close to doing that at all,” John McDonald said. “I don’t know how we can do it. I don’t see it happening with the cost of running a house and the cost of his care. Our friends and family members have helped us out a lot.”

Austin is currently on two medications – though John said that could increase – and he’s undergoing physical therapy.

When he turns 3-years-old in August, Stephanie said he will be enrolled in a classroom-style therapy program at West Alabama.

The McDonalds got another surprise four months ago. Despite careful planning, they learned Stephanie was expecting their second child.

After recently learning it will be a girl, the possibility of another baby with Lowe Syndrome was eliminated.

But when their daughter has children of her own, there is a possibility she will be a carrier for the disease.

For right now, plans have to be made to take care of an expanding family.

“We’ll just have to take it one day at a time,” John said. “We’ll do it by the grace of God’s will. We’ll do whatever it takes.”

Austin has been making good strides since his diagnosis. He can now sit up on his own and has worked out a hand signal system to communicate to his parents.

Physical ailments aside, Austin is a normal 2-year-old.

After the past few years of worry and confusion, that is the greatest source of inspiration for John and Stephanie.

“As far as day-to-day life, he’s a very happy baby,” Stephanie said. “He’s not miserable. He loves music. Knowing that he’s not in any pain and that he can express his feelings is wonderful. It relieves us a lot. All we want is for him to enjoy his life.”

Information for this story was contributed.