So much happened at the Fall PKU Summit that I have no idea where to start. I should start with the food! The chefs at Disney World Resorts went above and beyond. They ordered all kinds of items from Cambrooke and those with PKU ate like kings and queens the entire weekend. Of course the rest of us did as well. We had a fabulous dinner at the Living Seas Salon (behind the scenes at Epcot) and had front row seats for the fireworks on Friday night. Saturdays meetings went well and Owen and I spent the afternoon and evening in Hollywood Studios and Epcot. Other than getting really motion sick on Mission:Space, the day was wonderful. Sundays meeting were great as well. Many were very responsive to this blogs creation and my initiative with it.

The National PKU Alliance is now formed and is well on its way to becoming a unifying organization for the PKU world. We really need a national organization and while there have been failed attempts before, this one is off the ground and doing well. It is independent from the pharmaceutical companies and the low-phe food manuafacturers. That will provide the pku world with refresingly unbiased information.

While I went into the meetings wary of Biomarin, I came out with a greater understanding of who they are and what they are doing. Like many of us, I wondered why they were working with the PKU world and what was in it for them, other than the profit from Kuvan. I now understand that their founder, a genetisist, has a great interest in rare disorders and in helping people with these disorders. The money Biomarin is making with Kuvan is helping to fund their other possible pku drug and other pku related projects. I also learned that the active ingredient in Kuvan is BH4, something found naturally in our body. That put me more at ease with Owen being on it.

For those with loved ones with PKU, especially if they are having difficulty staying on diet, the above is very important. No matter what type of insurance you have, or even if you do not have any, Biomarin has a program to get that person on a trial of Kuvan. If they are a responder, the BPPS program will make sure they can stay on Kuvan. Owen is only a mild responder according to his blood tests, but his brain is responding in an amazing way. His mind is clearer and his memory is better. We are both noticing the changes. BPPS helped him get on the trial and when we could not afford the copay, they contacted NORD about it and NORD paid for it. I will post more information on both very soon.

Another issue that was brought to my attention is that clinics are not united on how to treat PKU patients. With a drug now being FDA approved, it is more important than ever to unite them and make sure everyone has accurate and up-to-date information. I am planning on contacting Owen's clinic and setting up a meeting with his nutritionist to talk that over.

There is much more, but it is late and I am exhausted. I left the Summit on fire with my mission to help the families and loved ones of PKU adults. Even if this blog never receives a comment or response, I will keep it going. Soon there are going to be many more PKU "survivors" reaching adulthood and having relationships. This blog will be there to help. They will not be alone like I was. Be proactive!