Nearly a year ago, Matt and Michele Karl and their children, 6-year-old Max and 3-year-old Nate, were happily awaiting the birth of a new baby.

Then their world was turned upside down, first, when the baby was born six weeks early, again on April 18, when 1-month-old Gabriel was diagnosed with ARPKD and, finally, on April 27, when they learned that Max also has the disease.

Now the White Plains, NY, couple is working hard to improve their children’s future.

Michele’s pregnancy had been fairly routine until her 34th week. During an ultrasound, a technician noticed there was no amniotic fluid and that the baby’s kidneys looked enlarged. The baby’s movements had also slowed down, and Michele was sent directly to the hospital.

Another ultrasound led to a C-section the next day. When Gabriel was born, nothing seemed unusual. About an hour after his birth, however, Gabriel’s breathing didn’t sound right, and the Karls were told he was very sick. They learned that he had air pockets in his lungs and that his lungs were underdeveloped.

At this point, the Karls were in a daze, and it was all a blur. They didn’t know what was wrong with Gabriel. His condition was critical, and they did not know for sure if he would survive.

Further testing revealed that the architecture of Gabriel’s kidneys was abnormal. To stabilize his lungs, Gabriel was put on a ventilator for the next week and oxygen for five more days. Although ARPKD was mentioned, the pediatric nephrologist could not give them a 100-percent diagnosis. He wanted to reexamine Gabriel at about six weeks.

Michele and Matt couldn’t wait that long.

They found a new pediatric nephrologist, who formally diagnosed Gabriel with ARPKD. It was devastating news, and the next month was emotionally tough.

The good news was that Gabriel appeared to have a milder case. His lungs stabilized; he was urinating; he didn’t have high blood pressure; and he was eating well.

Although neither of their other children had exhibited symptoms, at the doctor’s suggestion, they had them tested later that month. That was when Max was diagnosed.

As the Karls began to learn more about PKD through the PKD Foundation website and PKD Foundation events, such as the 2006 Annual Conference on PKD, they also became active in the fight to raise money for PKD research. They learned about the Walk for PKD and the PKD Foundation’s Hudson Valley and ARPKD Chapters. They got involved and, at deadline, raised more than $11,000 for the 2006 Walk for PKD.

At this point, the nephrologist is hopeful that both Max and Gabriel’s cases are mild, but the Karls should know more sometime soon.

Gabriel and Max have their blood pressure tested once per month, but, otherwise, life is pretty normal. Max has no physical or dietary restrictions, and neither child takes medication. They are treated as normally as possible.

The Karls encourage everyone in similar situations to find the right doctor and to keep pushing for answers.

“Never be afraid to question doctors,” they said. “Only you can be the best advocate for your child.”

To learn more, contact the Karls at 914-522-6193 or m3karl@optonline.net.