Going with the flow: Windham boy lives with rare genetic disorder

Brady Jackson decked out in his football uniform. Despite his disorder, Brady has experienced no symptoms of Gaucher’s disease since he began enzyme replacement therapy and participates in sports including football, baseball, lacrosse and track and fi eld. Courtesy photos

Brady Jackson is a normal, active 9-year-old boy. A fourth-grader at Manchester School, the Windham resident lives as normal a life as one could expect a boy to.

He also suffers from Gaucher’s disease.

“He’s very active – he does a ton of sports,” said Brady’s father Dan Jackson, 40. “You wouldn’t know there’s anything up with him.”

October is Gaucher Awareness Month, and the Jackson family is among those who want to publicize this potentially debilitating disease – which is diffi cult, owing to its rarity.

“As far as getting awareness out there, it’s not easy,” Jackson said. “We just think people might be interested to know about Gaucher’s disease and that there’s someone in their community who’s dealing with it.”

Gaucher’s disease is a recessive genetic disorder that affects about 1 in 20,000 people worldwide, according to the National Gaucher Foundation. The disease causes a defi ciency of the enzyme glucocerebrosidase, which acts on the fatty substance glucocerebroside in the body to break it down. The enzyme defi ciency causes the glucocerebroside to accumulate in the spleen, liver, kidneys and other organs.

Untreated, Gaucher’s disease can cause a variety of symptoms, including anemia, fatigue, joint pain and other complications as the body’s tissues and organs become enlarged.

Brady fi rst showed symptoms of Gaucher’s at a doctor’s visit when he was nine months old. His pediatrician noticed his spleen was enlarged and could be felt through his skin. Three months later, his kidneys had also become enlarged, prompting the family to fi nd out why and what was wrong with Brady.

Over the next six months, Brady saw a hematologist and underwent bone scans, liver biopsies and blood work to try and diagnose him. These tests ruled out lymphoma, leukemia and other cancers and terminal illnesses but still left the question unanswered. The Jacksons then consulted Dr. Wendy Smith, director of the division of pediatric clinical services at the Barbara Bush Children’s Hospital at Maine Medical Center in Portland, who confi rmed that Brady had Gaucher disease via a genetic test of his blood.

“Luckily, it was something that was treatable,” Jackson said. “It was something that he could live with.”

For the next six months, Brady received enzyme replacement therapy at the Barbara Bush Children’s Hospital. The family then hired a nurse to come to their home and prepare and administer Brady’s infusions every two weeks.

Under his treatment with the enzyme replacement therapy, Brady’s organs returned to their normal sizes and conditions, and it looked as though Brady would be fi ne as long as he kept getting his infusions on time. He still had to suffer through one more ordeal before he was out of the woods, however.

Nine-year-old Brady Jackson was diagnosed with Gaucher’s disease, a rare genetic disorder, when he was a year old. His therapy regimen has kept him healthy, and he enjoys a normal life with his parents, Dan and Stephanie, and brother Carter and sister Annie in Windham

In 2004, less than a year after he started receiving his infusions at home, the port installed in Brady’s arm to attach a catheter for feeding his infusion into his body fl ipped out of position, cutting off one of his arteries and restricting blood fl ow through his body. The Jacksons rushed Brady to the emergency room, where the port was repaired. Brady had to take blood thinners twice daily for the following three months while his body healed.

“That’s the only real scare we’ve ever had,” Jackson said. “Brady was a trooper throughout the whole thing.”

Since that incident, Brady’s treatment has been routine. A few years ago, he asked his parents to have the catheter port removed to make administration of his infusions easier and to make it easier and safer for him to stay physically active and play sports. He now receives his infusions through an intravenous injection in a process that takes about an hour and requires only that he sit in one place during it.

“There’s not much to it, really,” Jackson said. “He can sit and do his homework or play video games for an hour, and that’s it until next time.”

Brady has remained as tough and easygoing about his condition as he was when his port slipped and has a strong, positive attitude about everything in his life – something that has helped Dan Jackson and his wife Stephanie, 40, deal with their stress and worries.

“Brady’s the kind of kid who just goes with the fl ow – he doesn’t let anything bother him or get to him,” Jackson said. “Stephanie and I have gone through some fears and some angst since his diagnosis, but he’s kind of helped us all stay calm.”

Because Gaucher’s disease is a recessive disorder, it is possible for a person to be a carrier of the disease – to possess the gene for it without suffering from it. For someone to be born with the disease, both of a person’s parents must be carriers of the rare gene – and even then, there is only a 25 percent chance per child of inheriting both recessive genes and developing Gaucher’s.

When they had Brady, the Jacksons had another son, Carter, now 12, who does not have Gaucher’s. Dan and Stephanie Jackson found out they were both carriers of the disease after Brady was diagnosed.

“Our geneticist explained to us that everybody carries about seven or eight mutations in their body, and the chance of two people having the same one line up is very small,” Jackson said.

The Jacksons also have a 6-year-old daughter, Annie. Knowing their genetic makeup after Brady’s birth forced them to consider carefully the risk of passing Gaucher’s disease to their third child.

“We defi nitely thought about it after we had Brady – there’s always that chance it happens two out of three – but we fi gured it was safe and took the chance.”

Statistically, there is about a 20 percent chance that two Gaucher’s carriers would have two out of three children inherit the disease.

Aside from receiving his infusions, Brady lives a completely normal life, free from symptoms of the disease – and he should remain so for his entire life. In another stroke of good fortune for him, his case seems to be Gaucher’s disease Type I, causing only physical symptoms. The rarer Types II and III also have neurological and cognitive symptoms.

Jackson said he would like to see more being done to raise awareness of Gaucher’s disease. He discussed the possibility of setting up a charity walk to help raise money for research and treatment – which he knows from experience is very expensive.

“The treatment is very expensive, but we’re both fortunate enough to have good jobs with good health insurance that covers most of it,” he said. “If we didn’t have those things, we’d defi nitely be seeking assistance, both from the state and federal.”