"There is no hope.” That’s what most doctors seem to say to unsuspecting parents when they diagnose unborn infants with the rare genetic disease that two of our sons have. There is no treatment or cure for the condition autosomal recessive polycystic kidney disease (ARPKD), which causes cysts to form in the kidneys. Eventually the patient must undergo either dialysis or a kidney transplant to survive.
The odds can be frightening. Approximately 30 percent of babies with ARPKD die at birth. Of those that survive, 50 percent need dialysis or kidney transplants by the age 10. But these odds are made better by taking certain steps, such as putting the newborn on a ventilator— and having hope and strength.
As physicians did not know my boys had ARPKD before they were born, I didn’t have to hear those frightening words, “there is no hope,” during my pregnancy. My husband and I weren’t debilitated by doubt as we fought for our children’s lives.
Our third son Gabriel was born by an unplanned C-section at 34 weeks gestation because there was no amniotic fluid and the doctors debated if his kidneys were enlarged. Gabriel’s lungs were not fully formed and had air pockets. He required chest tubes to be inserted, needed to be put on a ventilator, and at 12 hours old was transferred from our suburban New York hospital to the neonatal intensive care unit at a prestigious Manhattan medical center.
The nephrologist there would not diagnose Gabriel, ruling out ARPKD, as he believed an infant with ARPKD would not have survived birth as Gabriel had obviously done.
During my son’s stay, Gabriel was on a ventilator and had two blood transfusions. Yet, he was soon healthy enough to come home with us. Although without a proper diagnosis for why his kidneys looked “bright” on scans, we continued to seek answers. And at 4 weeks old, Gabriel was diagnosed with ARPKD, which affects one in 20,000 infants. We learned then that ARPKD is a genetic disorder, and that the child must get one gene for the condition from each parent. If the child only gets the gene from one parent, he will only be a carrier. Like most parents who have children with ARPKD, my husband and I did not know that this condition was hidden in our genes. We had no idea that we were carriers of the gene. We didn’t have a clue that because we were both carriers, our children each had a 25 percent chance of getting the condition. Even though our other sons, ages 6 and 3 at the time, were both active and seemed healthy, we decided to have them tested immediately. We then discovered that our oldest son Max also has ARPKD, but our middle son Nate does not.
Sharing Our Hope
Other parents have a right to know the facts about ARPKD, all of their choices and the joy that our three beautiful boys give me. Through my work with the PKD Foundation, I help mothers-to-be better understand the odds and fight to keep their babies, or prepare to lose them. We discuss their feelings and emotions, and what the medical professionals and tests have told them. Some parents get to experience the joy of a child whom they never thought they would get to meet. Others choose to let their babies go without meeting them, and still others gather family, friends and photographers to meet the infant for the few moments the child is in this world. The most important thing I aim to share with all of the women with babies who have ARPKD is the strength to cope with this rare condition— and to have hope.
Telling the Boys
Talking openly about how Gabriel’s kidneys were “different” made it easier to discuss it with Max, who one day asked matter-of-factly: “Are my kidney’s different like Gabriel’s?”
Having ARPKD, regularly visiting physicians, frequently taking the boys’ blood pressure readings and knowing that a transplant will one day be necessary are as normal in our house as potty training and running the dishwasher are in most other houses in America.
Today at almost 11 years old, our soccer player Max has tons of friends and loves to read. In terms of his health, Max has good kidney function, high blood pressure and scarring on his liver (CHF). Our physicians believe Max may need a transplant in his 20s.
Gabriel, who is almost 5, has adult-sized kidneys, often complains of pain in his abdominal area, is not growing well and has high blood pressure. Our physicians estimate that he may need a kidney transplant in his teens. Gabriel is unbelievably adorable and cherishes his big brothers and playing with trains.
With normal kidneys, Nate, 7½, is another source of joy for us. He loves nature and animals, but sometimes finds that being the healthy one is challenging, too.
As parents, we relish every moment we have with our boys.
ARPKD is one form of polycystic kidney disease (PKD), which is one of the most common life-threatening genetic kidney diseases. Increasing kidney transplant donations together with increased funding to support the ground-breaking research offers the greatest hope to extend and change the lives of the 600,000 Americans with PKD.