Initial Abnormal Newborn Screen Contact with Primary Care Physician

Date: ________ Time: _______
NBS accession #: 173130306
Patient name: ______________
DOB: ____________

Spoke with whom at office: ____________ / __________
Patient seen in office previously on: ____________

• Discuss abnormal newborn screen for Pompe Disease / MPS I
• Discuss in general the diagnosis
• Discuss symptoms to look for (check applicable)
• Pompe: hypotonia, poor suck, macroglossia, decreased feeding, tachypnea, lethargy, hypertrophic cardiomyopathy
• MPS I: macrocephaly, umbilical hernia, macroglossia, hepatosplenomegaly, corneal clouding
• Recommendations given (check applicable):
• Notify family as soos as possible
• Follow-up visit with patient in PCP office today or first thing in AM
• If follow-up visit in AM, advise to do phone health status check today
• PCP to tell parent symptoms to look for and to call PCP if seen
• PCP to give parents information sheets
• We will send a copy of the NBS and physician information sheets
• PCP to send family to the lab with a script and our instructions ASAP
• We will call PCP and family tomorrow to follo-up and answer questions
• We will follow-up on lab results and advise PCP and family with results and any further recommendations, if positive will have a visit at CHM
• Our phone number given for any additional questions/concerns, advise our on-call pager number if any concerns with the infan's health status
• Confirm office fax number
• See fax sent with: recommendations fax sheet, abnormal NBS report, physician and family disorder fact sheets, confirmatory testing sheets
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