YMCA sponsors fundraiser for local boy Swim-a-thon to raise money for boy with kidney disease Feb. 13 BY KATHY CHANG Staff Writer Gabrial Sibilia, 13 months, was diagnosed with autosomal recessive polycystic kidney disease. The YMCA will hold a swim-a-thon to raise funds for his treatment. WOODBRIDGE - Jennifer Sibilia can't help crying when she describes her 13-month-old son Gabriel, who was diagnosed with autosomal recessive polycystic kidney disease [ARPKD] in October. "He looks like the cutest, healthiest and happiest little baby boy," she said. "He has lighter hair and is more fair than his brother [Sebastian, 4] because he's so anemic. They are my two squishy little peas, it's just horrible why one of them is so sick." Autosomal recessive PKD is the most common heritable cystic renal disease occurring in infancy and childhood. A particular genetic flaw causes the disease. Parents who do not have PKD can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. The chance of this happening [when both parents carry the abnormal gene] is one in four. This is the case for Joseph and Jennifer Sibilia. "Both my husband and I don't have a history of kidney disease," said Sibilia. "Gabriel was not diagnosed with the disease right away. Usually, the disease is diagnosed when the baby is still in the uterus. He was born on [Nov. 28, 2005] and has been in and out of the hospital, whether it was for his lungs or for when he got bronchitis." When Gabriel was 3 months old, doctors told the Sibilias that their son had reactive airway disease. On Oct. 24, 2006, when Gabriel was 11 months, he was diagnosed with the kidney disease. "I remember bringing him to the pediatrician," said Sibilia. "When he first got sick, he would crawl up into a little ball. I thought it was something minor like gas, but it all snowballed from Oct. 24. At first it was thought he had a tumor, but then it was the kidney disease." Gabriel is a patient of a nephrologist on staff at St. Barnabas Medical Center in Livingston and an outpatient and sometime inpatient at the Children's Hospital of Philadelphia. The disease has caused Gabriel to have anemia and severe hypertension. "He was on 11 medications a day, but now he is on five," said Sibilia. "We give Gabriel iron supplements to control his anemia. The hormone injection we started back in December called Procrit seems to be helping him produce his own young red blood cells. This has kept his hemoglobin level steady, finally! We monitor his blood pressure with a machine. He has had eight blood transfusions and he needs more." The blood transfusions are needed to find a bleed that is somewhere in his intestines, but has not been found. "So far, all the tests, including endoscopies and colonoscopies, do not indicate the exact location of the bleed," said Sibilia. "He needs constant care for his blood pressure and other complications caused by the kidney disease." Sibilia said locating the bleed is like winning the lottery. "Gabriel can go for 50 different tests and doctors can see nothing," she said. "Then on the 51st test, the doctors could see the huge bleed. Right now, it seems like the bleed vanishes somewhere." Other autosomal recessive PKD symptoms include urinary tract infections, and frequent urination. The disease usually affects the liver, spleen, and pancreas, resulting in low blood-cell counts, varicose veins, and hemorrhoids. Because kidney function is crucial for early physical development, children with the disease are usually smaller than average size. Ultrasound imaging of the fetus or newborn baby helps doctors diagnose the kidney disease. The imaging reveals cysts in the kidneys. Also, imaging of the liver aids in diagnosing the disease because it tends to scar the liver. The disease has also caused Gabriel's liver and spleen to be enlarged. Doctors at the Children's Hospital of Philadelphia told the Sibilias that when Gabriel is a little older and more active, they would like to fit him for a plate that would enable him to be a normal child. "The reason for the plate is to protect his liver and spleen," said Sibilia. "Normally, those organs are protected by the rib cage, but Gabriel's are enlarged. And from my understanding, when a spleen is ruptured it's full of blood and it could either bleed within itself or fill the gut that could be deadly. The plate would make life as "normal" as possible for him." Patients with the disease must receive dialysis or transplantation, but the Sibilias have not received a definitive answer from Gabriel's doctors on when a kidney transplant is right for him. "I know definitely down the line, he will need a transplant," said Jennifer. "It's a hard decision when I don't know if now is a right time or if it's OK that he receives one in five years. I did find out that only people ages 18-years-old or older could donate a kidney." As time passes, the Sibilias not only have to worry about their young son, but also how they are going to pay for his medical bills. "We use Verizon Blue Cross Shield POS insurance, which my husband receives from his company," said Sibilia. "They have been OK, but there have been a few things that I have to fight them to cover. We don't care about how much anything is because we will do what we have to do for Gabriel, but something comes up everyday and he will need more tests and eventually a transplant in the future." For the first time this year, Gabriel was able to spend Christmas and his first birthday at home with his family. "It was so nice to have him home this year," said Jennifer. "Last year, he spent his first Christmas in the hospital. This is going to be a lifelong disease for him, but we are going to do our best to make life normal for him. Maybe he can't play contact sports like football, but possibly baseball, riding a bike, and silly childhood activities. We are taking it one day at a time." A fund has been established for Gabriel at: Woodbridge YMCA Friends of Gabriel Sibilia, 600 Main St., Woodbridge, N.J. 07095. Sibilia, who is a hairstylist at About Faces Hair Salon in Edison, said she and her husband couldn't be so strong without the strong support they get from her mom Barbara Pulaski, friends, co-workers, clients and especially their two little boys. "Gabriel is always smiling, mischievous, and plays with his brother Sebastian," she said. "And now that he has perfected walking, it is not uncommon to find your keys in the garbage or your cordless phone in the toilet. These are the little things that help you get by." For more information contact "Lifetime for Gabriel" sponsored by Sandy Mercer at About Faces Hair Salon in Edison at (732) 549-0797, Rita Fisher at (732) 548-9349, or Sherrill Rudy at the Woodbridge YMCA at (732) 596-4180. The first fundraiser will be a swim-a-thon held at the Woodbridge YMCA on Feb. 13. The committee will kick off a week for Gabriel from April 22-29, which will involve many other fundraisers including a spaghetti dinner and dance-a-thon. A walk-a-thon will be held in September.