Family Supports PKD Research

By PKD Foundation Staff

On October 3, 2000, just hours after giving birth to a booming eight-pound baby boy, Karrie and Randy Smith learned that their son, Jake Randal, had a rare but devastating form of polycystic kidney disease.

The Pleasanton, CA, couple already had two healthy little girls and had never heard of autosomal recessive polycystic kidney disease (ARPKD) or that they could be carriers of the disease. Desperate for information, they turned to the PKD Foundation website, www.pkdcure.org.

There, they discovered that ARPKD, a genetic disorder affecting 1 in 10,000 babies,  is often deadly in infants, and, while doctors were doing their best to save Jake’s life, the odds weren’t in his favor. Jake’s kidneys were covered in cysts, and his lungs were undeveloped. A respirator was his only link to life.

“The doctor told us Jake was terribly sick,” Karrie said. “We were incredibly stunned. We had pretty heavy ultrasounds. They didn’t see any problems.”

Despite the tireless efforts of doctors and nurses at two northern California hospitals, Jake’s kidneys failed to function by the next day. He died on October 4 in the arms of his parents and after hours of hugs and kisses from his sisters and grandparents. He was alive for only 28 hours.

In a letter to friends and family, Randy wrote:

“Two days ago, I’d never heard of Autosomal Recessive Polycystic Kidney Disease. But, today, after this dreadful disease took our son’s life, we know more than anyone should have to know … Just 28 hours. It is amazing that this little guy, who was only with us for a little more than a day, could have such a deep impact on so many people in such a profound way. Jake, we love you and will always miss you.”

A year after Jake’s death, to help deal with their grief and raise awareness for ARPKD, Karrie and Randy started the Jake Memorial Soccer Clinic, which has now raised more than $20,000 for PKD Foundation research.

Most recently, Karrie and Randy also named the PKD Foundation as a beneficiary of their living trust. It’s their hope that research will lead to a treatment and a cure for ARPKD.

“We just want to give to alleviate grief and aggravation of other people,” Randy said. “We want to find a cure.”

Since Jake’s death, Karrie and Randy also have given birth to a healthy baby girl, Maille, now 3.

Early in the pregnancy, the couple underwent genetic testing to see if Maille, too, would suffer from ARPKD. By comparing DNA samples from Jake to those of his parents and Maille, doctors were able to discover that Maille would be free of the life-threatening disease.

Unfortunately, Maille, like her parents, is a carrier of the ARPKD gene, which could be passed down to future generations. Her older sisters, Lindsey and Sydney, could also be carriers but have not been tested yet.

Regardless, Karrie and Randy want to make sure that, through research, their children never have to experience the pain of losing a child of their own.

“We want them to have choices; we want them to have knowledge; we don’t want them to relive what we went through,” Karrie said.

Karrie and Randy also want their daughters to remember the lessons Jake taught them in his short life.

“If you don’t feel sorrow, it’s really hard to find happiness,” Karrie said. “I think that’s what he did for us. He made us wake up to what’s important.”

Karrie and Randy are happy to talk to others about their experiences. For more information, contact Kara Cowie, Communications Manager, at karac@pkdcure.org or 816-268-8480.