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Freeport family suffers from genetic ailment
Published April 14, 2009
FREEPORT — A football sits in Nicholas Sanchez’s front yard, but playing the sport with other teens could cause him debilitating pain.
Sanchez, 15, has polycystic kidney disease, or PKD, a genetic condition in which cysts form in the kidneys before spreading to other organs. It affects more than 600,000 people in the United States.
The cysts can be volatile, and many who have the disease cannot participate in sports that involve physical contact, Sanchez said.
“If I get hit on my side, they could rupture,” he said.
Once ruptured, the cysts then can become infected, causing serious pain and illness, said his mother, Amy Sanchez, who also has the disease.
“Once the pain is gone, it’s gone,” Amy Sanchez said. “But while it’s there, it’s excruciating.”
Over time, the disease takes over the kidneys and stops their function. That forces those with PKD to wait on a transplant and go through dialysis, a machine that cleans toxins from the body’s fluids.
Amy Sanchez learned after she an her son were diagnosed there is not a lot of publicity about PKD. They also learned a research study in Colorado could bring ways to help lessen the disease’s effects.
INCIDENTAL FINDING
Amy Sanchez lives in Freeport and home-schools her five children, including Nicholas, Jaime, 18, Christian, 12, Victoria, 9, and Isaiah, 2.
In 2005, Nicholas Sanchez complained of persistent back pain, something familiar to Amy Sanchez.
“I’ve had back pain for years and they couldn’t tell me why,” she said.
After Nicholas discovered he had PKD during a doctor’s visit for his back, Amy Sanchez learned she too had it when she saw a doctor the next day.
“It was what they called an incidental finding,” she said.
PKD is hard to pinpoint because it doesn’t show up in blood analysis. Only an MRI or a CAT scan can find the cysts because they are inside the organs, Amy Sanchez said.
Polycystic kidney disease also leads to other organs developing cysts, and eventually shuts down the kidneys.
The disease itself cannot be treated because it would damage the kidneys, said Dr. Amir Masoumi, a research fellow at University of Colorado-Denver Health Sciences Center.
Doctors can treat only the symptoms of the disease, which include urinary tract infections, high cholesterol and hypertension, he said.
Over time, though, the kidneys fail, and when asked how many people that happens to, PKD research assistant Diana George said, “Everyone.”
When Amy Sanchez asks what her greatest fear is, she answers quickly, “Being on dialysis.”
“As the years come, it’s a great possibility,” Amy Sanchez said. “Worse than that is seeing my kids go through that.”
All of the Sanchez children have been tested, and only Nicholas and Amy Sanchez positively have the disease. Victoria likely has the disease, as she also shows many of the same symptoms, Amy Sanchez said.
But to know for sure, a genetic test is needed. The tests are expensive and insurance companies are not willing to cover it, Amy Sanchez said.
“Sometimes it seems like it’s not fair,” she said. “But I’m glad I know.”
Insurance coverage for children with PKD is hard to come by because it’s a pre-existing condition that carries a lot of medical bills, George said.
As Amy Sanchez talks about the disease and her family, little Isaiah runs by playing with a rubber ball. He has not been tested, she said.
“We’re just going to let him grow up and be normal,” she said. “We’ll wait and see.”
NOT A LOT OUT THERE
When talking to someone about PKD, one of the first things they mention is the public knows little about it.
George did not know about the disease until she signed on to work with a research project on PKD.
“You just don’t’ hear about it,” she said.
But the disease is more than common. According to the Polycystic Kidney Disease Foundation, 600,000 people are affected by the disease, which is more than Down syndrome, sickle cell anemia, cystic fibrosis, muscular dystrophy and Huntington’s disease combined.
But of these diseases, PKD receives only $32 million in annual research funding, which is less than all of the previously mentioned diseases except for Down’s syndrome.
“There are so many genetic diseases,” said Gayle Mitchell-Swearer, coordinator for the PKD Foundation’s Houston Chapter. “It just kind of gets lost.”
Swearer became involved with the organization after she was diagnosed with PKD. Her father also had the disease.
In hopes to raise awareness, the organization’s chapters have annual Walks for the Cure, including one in Houston, Swearer said. The organization also lobbies for research funding and maintains a Web site with research about the disease.
The organization tries to show everyone it affects a lot of people, Swearer said.
“Everyone has a relative with PKD,” she said.
Amy Sanchez found the PKD Foundation and looked over the research. She said she wants to share her story in hopes others will learn about it and what it does to those who have it.
“There’s not a lot of publicity that this is a problem,” she said.
Most doctors are not familiar with it except for those who specialize in kidney problems, George said.
“When you’re in the field nephrology, PKD is one genetic disease you deal with the most,” Masoumi said.
GUILT AND HOPE
When Amy Sanchez first found out her children had a disease they got from her genes, it was hard to cope with.
“I was very guilty about that for a long time,” she said.
That feeling is common among those affected by PKD, George said.
“It’s a hereditary disease,” George said. “It’s 50-50 that you’re going to get it. We find a lot of families that have some guilt.”
The University of Colorado-Denver Health Sciences Center is conducting a four-year study on the disease and received $2.21 million in funding from the National Institutes of Health.
The study is taking 100 children with the disease who already are taking the hypertension medication Lisinopril and giving half of them the cholesterol medication Pravastatin and the other half a placebo.
The study will track the children’s condition by performing MRI scans to see whether their condition lessens, Masoumi said.
Studies on mice have shown the combination of the two medications reduce PKD’s effects, Masoumi said.
“We’re trying to delay the progression,” he said. “They can live normally.”
Nicholas, who loves to scrapbook, is an amateur photographer and likes to bake, wants to be in the study and is trying to get one of the 25 available slots.
“It’s really exciting,” said Nicholas Sanchez, who already takes Lisinopril for hypertension. “I’m really excited to know I’m going to help those with the disease.”
The slots will be filled by the end of April, and the National Institutes of Health will fly Nicholas Sanchez to Colorado for the scans if he’s chosen, Amy Sanchez said.
“It’s a very encouraging study,” Amy said.
STILL WAITING
While Nicholas Sanchez waits to find out if he will be in the study, his young sister waits anxiously to find out if she will get the disease as she gets older.
The shy Victoria Sanchez is the only girl in the house beside her mom, and said it’s hard for her to talk about the disease.
“I wish I had a sister,” she said, laughing.
While the Sanchez household does wait nervously to find out whether Victoria or Isaiah will develop PKD, they have to live their lives and hope for the best, said Jesse Sanchez, the children’s father.
“I know there’s a purpose and a reason,” he said. “With time we can know what that purpose is. You have to keep looking to God and hope he gets you through it.”
Amy Sanchez said though Nicholas and Victoria have to be careful how they play, she wants them to live their lives normally and not worry about the disease.
“You just kind of enjoy everyday and be thankful you’re not hooked up to machines,” she said.
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