By Karla Sullivan
Shortly before birth, Leah’s kidneys were not developing and doctors predicted she would die at birth. She was born with numerous complications and polycystic kidney disease was one of them. According to the US Department of Health and Human Services, PKD is a genetic disorder characterized by the growth of numerous cysts in the kidneys.
Two major forms of PKD exist which includes:
Autosomal dominant PKD is the most common inherited form. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. About 90 percent of all PKD cases are autosomal dominant PKD.
Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.
Leah has the second type and when she reached 22 pounds, she was eligible for a kidney transplant. Her mother was the perfect match. Both surgeries were successful and mother and daughter were home in less than a week. Leah had done well, loving macaroni and cheese, pizza being another favorite and a new toddler with a burst of healthy energy and special beginnings.
Now, Leah is nine years old and despite a new kidney, medications, and anti-rejection drugs, Leah once again went through another kidney transplant yesterday. She is resilient, smiling and ready to move on but there is no way of knowing when this life long disease will attack again.
Children with this disorder can suffer from high blood pressure, urinary tract infections and frequent urination. The disease can affect the liver and spleen. Medicines and antibiotics are available to treat other infections but if kidney failure is present, patients must receive dialysis or transplant
Researchers have also recently identified the autosomal recessive PKD gene, called PKHD1, on chromosome 6. Genetic testing for autosomal recessive PKD to detect mutations in PKHD1 is now offered by a limited number of molecular genetic diagnostics laboratories in the United States according to the US Department of Health and Human Services.
Next month in June, the PKD National Convention will convene to provide opportunities to learn more about research and development from June 20-22nd in Kansas City. Parents of those children/teens suffering from PKD will be available to share their personal stories as well as clinicians from all over the country. The last day to register for the event is June 6th. Special offers in dining, shopping and travel are presented.
If you are interested in learning more about PKD, the PKD Foundations walk season will begin with more than 50 events across the US. Click on the link for more information.
Of course, donations can make such a difference in the lives of millions, and there are so many ways to help over 12.5 million with this disease; more importantly, being a forerunner in the process of finding a cure:
· Make a pledge
· Transfer a gift of securities
· Donate stock
· Plan your estate
· Workplace giving
· Vehicle donation
· Tribute giving
· Becoming foundation partner
Help Leah, and others like her, who richly deserve to travel the many milestones of life. Not a road of pain, uncertainty and catastrophe but one of education, career, family, love and, of course, miracles.
