In 2003 we started working with a doctor who specializes in the kidney disease our kids had been diagnosed with 2 years earlier. Our case peaked her interest when I met her a year prior at a conference. I approached her trying to peak her interest by saying, “Do you know any siblings that both have ARPPKD (autosomal recessive polycystic kidney disease) and a vision disorder called occularmotor apraxia?” With that began one of the most important doctor relationships we have and will ever have in the course of my kids’ treatment.
This doctor, a clinician and researcher, immediately wanted our family’s blood for DNA sequencing. She suspected that because our kids have two different conditions they had a syndrome she’d never heard of and was quickly off to go research. Not finding another documented case of the “syndrome” she sent our blood here and there. Researchers across the country started referring to us as the “Special Atlanta Family” as they tried to answer the question she was seeking: What is wrong with these kids?
Early in our journey we were very anxious to put a name on their overall disorder. I’d do internet searches, join forums for disorders of the eyes and kidneys and reach out to doctors footnoted on research papers. Our doctor put an end to that by simply telling me that having a name for what they had wouldn’t change anything about the treatment we were providing. Their disease/condition would run its course and we’d deal with the symptoms as they came.
That didn’t mean that she wanted to stop searching for answers. We enrolled in a study at the NIH and spent a week in Bethesda, Maryland going through a myriad of tests including scans, labs, 24 hour urine collection (twice times 2 kids!), IQ testing, optometry and interviews. I spent a month copying files, pulling together CDs of scans and getting copies of x-rays together before our visit which spoke to our life over the previous 6 years.
We learned 18 months ago that our kids and one other child have the same mutated gene, for a yet to be named (and never documented) syndrome. Three kids in the world. The researchers called us with the news, asked for permission to publish the results and thanked us for our participation in the study which gives them new information about cystic kidney diseases in children – a rarity apparently.
They were downright excited when they explained that these results could potentially link other childhood cystic kidney diseases together, an often long thought of theory. The discovery of our kids’ gene mutation could provide them the missing link. Our kids – who love to collect bugs, rearrange furniture, paint and swim – could provide researchers with an important medical discovery.
I don’t hold anything against researchers that show their excitement and I’m glad our kids’ suffering could lead to more information being available to the next family that faces their unique syndrome. I’ve told our brilliant doctor the discovery just confirmed what I always knew – my kids are the most unique, special kids I know, mutant genes and all.
Julia blogs her family's story at Kidneys and Eyes and is co-founder of a social networking site, Support for Special Needs.com. She writes for PKD Progress Magazine, Parenting Children with Special Needs Magazine, She Posts and serves on the Board of the PKD Foundation and the Parent Advisory Council for Children's Healthcare of Atlanta.