Hi all,

I've just returned from the National Coalition for PKU and Allied Disorders Conference in Orlando.  It was once again an extremely valuable experience for me.  We heard from Dr. Chace of NeoGen Screening with regard to current screening methods for Tyrosinemia.  He discussed the difficulties they are having identifying Type I by measuring tyrosine levels.  It would be extremely helpful to them to be able to follow a newborn's levels that they knew had Tyr. Type I from birth.  So, if any of you decide to have another child and are willing to help please contact Dr. Chace.  Bo Allen from Rare Disease Therapeutics discussed with us the challenges and opportunities of Orphadin.  We also had the opportunity to meet Milton Ellis and Kathy Hare also from RDT.  It was nice to connect faces with names.  We also thank RDT for their support of the conference.  Dr. Holme shared her wealth of information regarding the treatment of Tyrosinemia, and was willing to address any issue we brought up.  She was wonderful! 

We also got some low-protein cooking tips from Dianne Sullivan.  Having access to such knowledgeable and experienced professionals was a great privilege.  We also had time to swap stories, questions, observations, experiences with each other. 

 It was great to see Danielle, Heidi and Jason again, and to get to
know Robynne in person, and to meet the Karczmer family.  Thank you Trish and the National Coalition for making it possible and thank you all for attending.  For those of you who didn't make it this time, I hope we will see you next time.  It's very important that we know we are not alone in this!

Best regards,
Jennifer

 

updated 11/16/2002