The Wall Street Journal recently ran a front page story about a family here in Michigan whose son was diagnosed with ARPKD.  The article provides some much needed publicity for the ARPKD/CHF community and illustrates the isolation that many families experience when given a critical diagnosis by medical professionals.

When Rita was diagnosed with ARPKD/CHF at 4 months, we had no idea what to expect. We were given the diagnosis over the phone by an intern that was unable to answer any of our questions.  We had to wait for several days to speak to a nephrologist who knew more.  While he reassured us that Rita wasn't in the 50% of babies that don't survive infancy, we were still very much in the dark as far as her long term prognosis was concerned.

Like the little boy in the WSJ article, it now appears that Rita may have a rarer if not singular form of kidney disease.  We feel very fortunate that she has been ahead in every measurable developmental milestone.  So far, no one would know she's sick.  She is very bright, active and sweet as can be.

I learned of the ARPKD/CHF Alliance shortly after Rita's diagnosis and it’s a shame to see the number of people that suffer immeasurable worry after speaking to their doctors only to then face a relatively normal life with their affected children. There is tremendous variability from one patient to the next and many doctors only forecast the worst case scenario.  We have found other parents, the ARPKD/CHF Alliance and the NIH to have been our greatest sources of information.

We live in Ann Arbor and are told that the pediatric nephrologists at the University of Michigan are top notch. I believe this is true from a scientific standpoint but from a communication and caring standpoint they need to improve. Much work needs to be done to help families understand and cope with rare kidney and liver disorders. The WSJ article serves to raise awareness for this cause.