Can I still be in the study if I can not get to Boston?
For those who do not want to travel to Boston, you may be able to participate from home. We still need to gain approval for our lab to accept samples from outside physicians. Once we have this approval, then we could enroll patients through their local geneticist if the geneticist agrees to get your signed consent, send medical information, arrange for echocardiogram, renal ultrasound and coagulation studies if they have not been done, and can have a blood sample sent to our lab for PTPN11 gene mutation analysis. My hope is that we will be able to have approval to receive these outside samples in the next month or so and then anyone (in the US or outside of the US) can participate.
