NASHVILLE

Where did the summer go??  Tylor had a fun filled summer but it just went by way too fast.  To end summer vacation we went to Nashville for the National Niemann Pick family conference.  This year marks the 20th anniversary for the foundation so it was an extra special time for all of us involved especially for those who started this wonderful foundation.

It was a great weekend but a little overwhelming.  There was a lot of information about the up coming Cyclodextrin trial at the NIH and some other great research going on in different labs around the country.  They were hoping to get the trial up and going by the end of this year but it looks like it will start in the fall of 2013.  I am not sure if Tylor would be eligible for the trial because they are not completely done talking with the FDA on all the specifics. But I am still up in the air about getting Tylor in the trial so as information emerges I will pass it on and let you all know what we have decided.

Outside of receiving all the great information we were able to spend some time with old friends and met a lot of new families.  I always love getting together with my NPC family because they know what we are going through and they are so supportive.

Here are some pictures

Taking a nap after swimming

Karen Quant introducing the doctors & researches involved with the NPC community

The children that where taken from us too early last year

Ty at the Rain Forest Cafe

Throwing money into the fountain.  All the money was donated to NNPDF

The Moms at Hooters!! Tylor got a shirt signed by all the girls there.

We got to see some ND friends there as well.

We had a western theme this year and the kids loved the cowboy hats

Mom, Ty, and Kim dancing

The Moms are getting down.

NPC claims the life of a special boy

In Loving Memory of Gavin Lopez

Gavin, Johnathan, Dillion, and Tylor

I had the opportunity to meet Gavin and his family in Virginia at the Niemann Pick family conference. They are a wonderful family and Gavin was such a sweet little boy. I only wish I got to spend more time with this family. On October 30th Gavin lost his fight with NPC. Here are video clips from the Doctors taken just a few months ago.

Gavin and His Mothers Heartbreaking Story

How NPC affects the body

NNPDF Family Conference 2011

This year the NNPDF Family Conference was held in Norfolk, VA at the end of July. Sy and I took Tylor along with Sy's Mom and Stepdad. We drove down, it took us about 18 hours. We arrive in Norfolk around 6:30am and I couldn't believe it the hotel had one room ready for us. So the five of us crashed for a few hours before hitting the sites.

Norfolk is beautiful! The view from our room was of the Naval ship yard and the Bay area. We did a little site seeing our first day there but it was also the start of the conference so we couldn't do a lot.

It was so nice to see the families we met in Seattle. We had over 225 people attend this years conference which makes it the biggest one to date!! There were a lot of new families so it was great to connect and bond with them. It is crazy how you can connect with someone you never met just because of this horrible disease. Also this year there were about 26 kids there....all I can say is WOW! I loved seeing all the kids interacting with one another. Our children are so precious.

Well I guess I should get on with what we learned at the conference.

On Friday we heard from Dr. Marie Vanier, she has been researching this disease for three decades, Dr. Dan Ory, Dr. Steve Walkley, and Dr. Fran Platt. This group of doctors gave an overview of NPC Disease research, Support of Accelerated Research (SOAR) updates, Updates on Miglustat and Cyclodextrin as therapeutics for NPC and combination therapy for NPC.

On Saturday we heard from Dr. Marc Patterson, Dr. Kasturi Halder, Dr. Dan Ory, and Dr. Denny Porter. This group talked about medical and clinical update. The topics included: NPC intro adn overview, assistance of undergrads in charaterizing clinical progression for NPC, biomarkers for NPC, development of the NIH Cyclodextrin clinical trial.

Through out the weekend we also did a lot of brainstorming on how to raise money for research for National Niemann Pick Awareness Month in October. We got to listen to the famous Humorist, Carol Ann Small, we learned about an iPad can help our children communicate with us better and of course we had a beautiful banquet dinner to end the conference.

Carol Ann Small

I talked with Dr. Kasturi Halder, she is the Director at the Center for Rare and Neglected Diseases at the University of Notre Dame, about sending Tylor's medical records for the students to review. She was glad to take my information becasue with so few cases they are always looking for new NPC families. I am in the process of gathering all the medical records, I am only waiting on one doctor to get back to me.

I also talked breifly with Dr. Denny Porter, from NIH, about getting Tylor down there for the the NPC Natural History Study. He told me he would be glad to see Tylor and to call Nicole, his assistance, to set up the appointment. Nicole and I talked shortly after we got back. She explained that they would be performing all the test Tylor has had over at the NIH. That means more EEGs, MRIs, another skin biopies and spinal tap, a lot of blood with be taking, eye and hearing exams, and much more. So at first I thought do I really want to put Ty through all this again??? This information they gather from Tylor may help in the future and who knows maybe we will find out how it is processing in him. So we deceided to go for it. So Jill, Ty's Stepmom, Tylor and I are leaving Decemeber 4th and will return on December 9th!! We will keep you posted on how this go down there.

Well know on the the fun stuff...

After the conference we toured around Norfolk. We went on the SS Wisconsin and we drove on the Chesapeake Bay Bridge/Tunnel. That was so cool and weird at the same time. We also visited Grandma Mulgrew's brother in Maryland. We spent a day in D.C. and also got a little bit of relaxation time in before we had to go home. Here are some pictures!!

Virginia Beach

The fishing pier in Virginia Beach

Ty on the SS Wisconsin

See how the bridge goes under the water

Sy and Ty at the Capitol

Tylor and I with the Wright brothers

Eating Crab on the beach