"Lifelong
and life threatening." I still remember the terror that I felt in my heart when I
read those two descriptive phrases about the diagnosis that we had just received for our
precious baby daughter, Erin. Prader-Willi syndrome – -whoever heard of Prader-Willi
syndrome? This has got to be a mistake. Sure she’s weak. Sure she sleeps a lot. No,
she doesn’t smile much but then she doesn’t cry much either. But how does all of
that add up to lifelong and life threatening? I can accept "developmental
delays" and I can live with that. Delay has to do with time and we have plenty of
that. So where do they get off telling me about this Prader-Willi thing?
The fear and anger and disbelief of receiving a diagnosis of Prader-Willi syndrome are
still as vivid in my mind as they were the day the doctor called us with the test results.
So much has changed since then, but the memories of that day will be with me forever.
Going through the materials that the doctor gave me was as difficult as anything I have
ever done. The picture that was painted by that information portrayed Erin’s future
as being as black and dismal as could possibly be. If she were destined to have all of the
problems on those lists, what point could there possibly be to her life?
Since that time, I have spent countless hours researching the issues involved in PWS
and talking with other parents, especially the parents of young children Due to early
diagnosis and aggressive early intervention, I now know that I can expect a drastically
different life for Erin than the one pictured by the original information that I received.
Research is currently going on that could make major inroads into the medical and
behavioral challenges that come with PWS. It doesn’t cancel the diagnosis or the
issues she may face but knowing that certain things will probably be real challenges for
her, I can set up a plan to meet each of these issues head on. This allows me to be
proactive instead of reactive and greatly increases the chances that Erin’s life will
be full, both of health and happiness. She deserves no less.
This collection of articles is designed to help the families of young children with PWS
see what is happening in the lives of other children who have also received early
diagnosis. There’s no getting around the fact that PWS is a serious issue. But there
are so many types of treatment available today that were not available even a few years
ago that we cannot help but be optimistic about the future. By telling our stories, we
hope to increase the awareness of the treatment options that are available. We want to
share our joys and our pain. We want to reach out to others and be supported in return.
Most of all, we want to say that there is hope, lots and lots of hope. Our stories attest
to that and this is just the beginning. Together we will work to find solutions so that
someday parents will not have to experience the chill of those descriptive phrases,
"lifelong and life threatening." I truly believe that day will come.
Rachel Whitler Tugon (Mother of Erin Tugon)
