In early November 2002, I traveled to Phoenix, Arizona for the Association of Public Health Laboratories (APHL) annual meeting. I was asked to speak as a representative of the National Coalition for PKU and Allied Disorders on the topic, "Parents Perspective on Ethical Issues in Newborn Screening."

I pondered how to obtain information for this presentation and eventually decided the best way to get a parent's perspective on this issue is to ask them. I prepared a questionnaire and sent it to many different metabolic eGroups. The questionnaire asked for a response to five newborn screening questions. (My thanks to those from the MSUD eGroup that responded.) Jordan, my 13 year old son with MSUD, put together a Power Point presentation for me. It included the responses to my questions from parents from all over the country.

I presented this information to a large group of state laboratory directors, technicians, nurses, and genetic counselors at the APHL meeting in Phoenix. The audience seemed very interested in the parent's views and feelings on newborn screening issues. To my surprise, after my presentation, several state lab directors approached me and asked how they could get more parent involvement in newborn screening in their state. I heard comments like: "It would only take a few vocal parents to get newborn screening moving forward in my state." and "Legislators in my state would take an interest in newborn screening if more parents contacted them and told their story."

This is my plea. Get involved in newborn screening in your state. It can be as simple as making a phone call. I would suggest getting started by calling your state health department and asking to speak to the Public Health Laboratory Director. Following are suggested questions to ask:

  • How many diseases are we currently screening for in this state?
  • What are they? And is MSUD one of them?
  • Do we have a tandem mass spectrometer? (A machine capable of screening for a battery of disorders from one bloodspot.)
  • If not, are there plans to purchase this equipment in the near future?
  • If so, are we currently using this equipment?
  • What are the plans for expanding our program to add more diseases?
  • What can we do to ensure that all babies born in our state get comprehensive screening until the state is capable of providing this service?
  • What can I do to move newborn screening forward in our state?

If you have any questions, feel free to call or e-mail me anytime.

Sandy Bulcher
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The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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