Well today there was a conference called held by the NIH and NNPDF to update the community on the Cyclodextrin trial. The news was not what I was hoping for. They had to put the trial on a pause status due to an infection at the ommaya reservoir site in two patients and another (who is not in this trial) suffered from a brain bleed. The ommaya reservoir is like a port for a chemo patient but it is surgical placed in the front of the brain. The infection was cause by bacteria that sits on the skin that causes acne. At this time they are not sure if NPC patients are at a higher risk since this is a lipids disease or not. But they knew they couldn't continue with the trial with so many problems and not enough answers.
They put in on hold and got in contact with the FDA who in turn put an official hold on the trial and will send the NIH a letter stating what has to be done to get the trial off the hold status. The FDA was very pleased with the quick action by the team at the NIH for putting the trial on pause right away without first contacted them. The NIH will receiver the letter sometime next week and will inform the NPC community once they have a plan of action in place.
Dr. Porter did add that they did collect some promising results from the trial thus far. The bio-markers looked good and they got goo PK data. These results where from the patients receiving a very small dose of the cyclodextrin. Dr. Porter thought they would see nothing with this low of a dose, so that in itself is very hopeful!!
They do think that the infection was not drug related but device related. So he did go on to say that they will be looking at a lumbar injection as means to administer the drug. They do have concerns with how much of the drug will actually reach the brain but with the data collected from the trial he believes that they will be able to administer enough of the drug to reach the brain without causing toxicity.
There is a lot of work ahead for the NIH team but they are committed to get this trial back up and running as soon as they can. They could not give any kind of time line or dose levels at this time. I will keep everyone posted as information comes to me. Please say an extra prayer for the NPC community especially those in the trial that suffered an infection and the child who suffered a brain bleed. Thank you and God Bless!!
Showing posts with label NNPDF. Show all posts
Showing posts with label NNPDF. Show all posts
November 26, 2012
Cyclodextrin Trial News
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin
~ November 2012 ~
Cyclodextrin (HP-β-CD) for NPC1 Disease
~ Clinical Strategy ~
Nuria Carrillo, MD
Therapeutics for Rare and Neglected Diseases (TRND)
National Institutes of Health ~ Bethesda, MD
Cyclodextrin (HP-β-CD) for NPC1 Disease ~ Clinical Strategy ~
Created and presented by:
Nuria Carrillo, MD; Staff Clinician
Therapeutics for Rare and Neglected Diseases (TRND)
Division of Preclinical Innovation
National Center for Advancing Translational Sciences
National Institutes of Health ~ Bethesda, MD
October 29, 2012
Wow...It's been a long time......
Well where do I start?? It has been a very long time since I have posted a blog for Ty and we have a lot to share.
Tylor has been doing so well. He is doing great in school. He has more interactive with his peers this year. He participates more in class and stays awake more then ever during the day. He does like to watch the girls at lunch which complicates eating but at least he's enjoying himself...right?? When I put him on the bus and take him off he always has a smile on his face, which makes it much easier to send him to school.
It was a very special Homecoming for Tylor. He was asked by his "girlfriend" Elena and of course I made it happen. His Uncle Mitch was nice enough to let him borrow some clothes that looked very handsome on him. He and Elena had a wonderful time with each other and they were both happy to see most of their friends there. It was so cute to see them holding hands most of the night.
Ty also celebrated his 16th birthday!!! We went out to eat at a local Mexican restaurant with some friends. He loves to eat there.. or it might be that his Mama loves their Margaritas. But at any rate we had a great time and Ty was full of smile the whole time and loves his Birthday dessert.
A few more updates Ty is still not going to PT or OT because he is going so well. His new AFO's are working out great and his strength is awesome!! We have been very blessed with Ty's condition and how slow it has been progressing. He is such a happy and loving kid...I couldn't ask for anything more in our situation.
I hope you all enjoy the pictures and I am hoping to post more often now that things have settled down a bit in our lives.
Tylor has been doing so well. He is doing great in school. He has more interactive with his peers this year. He participates more in class and stays awake more then ever during the day. He does like to watch the girls at lunch which complicates eating but at least he's enjoying himself...right?? When I put him on the bus and take him off he always has a smile on his face, which makes it much easier to send him to school.
It was a very special Homecoming for Tylor. He was asked by his "girlfriend" Elena and of course I made it happen. His Uncle Mitch was nice enough to let him borrow some clothes that looked very handsome on him. He and Elena had a wonderful time with each other and they were both happy to see most of their friends there. It was so cute to see them holding hands most of the night.
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| Tylor and Mom at Homecoming. |
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| Elena and Tylor's first picture of the night |
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| What a cute couple!!! |
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| Time to say Goodnight!! |
A few more updates Ty is still not going to PT or OT because he is going so well. His new AFO's are working out great and his strength is awesome!! We have been very blessed with Ty's condition and how slow it has been progressing. He is such a happy and loving kid...I couldn't ask for anything more in our situation.
I hope you all enjoy the pictures and I am hoping to post more often now that things have settled down a bit in our lives.
September 9, 2012
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
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
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| Taking a nap after swimming |
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| Karen Quant introducing the doctors & researches involved with the NPC community |
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| The children that where taken from us too early last year |
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| Ty at the Rain Forest Cafe |
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| Throwing money into the fountain. All the money was donated to NNPDF |
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| The Moms at Hooters!! Tylor got a shirt signed by all the girls there. |
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| We got to see some ND friends there as well. |
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| We had a western theme this year and the kids loved the cowboy hats |
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| Mom, Ty, and Kim dancing |
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| The Moms are getting down. |
May 30, 2012
Ducks for Bucks June 2nd....Get Your Duck
The video of this poem is a must watch....The poem written by my aunt Donna Maser in honor of our Daughter Breann Chavez. It captured the emotional struggle that my husband and I went through after our daughter was diagnosed with Niemann-Pick Disease. It is dedicated to all families who are still in this fight. Sadly Breann passed away in June of 2006 at the age of 3.
Jami and Lisa, parents of Breann, started a duck race to raise money for NPC in Memory of Breann. The race is June 2nd 2012 so there is not much time to get your DUCK!! You don't have to be present to win. The ducks are $5 ($1000 prize) or you can just make a donation!!
Tylor bought a bug duck (pictured at the top), since we call him Ty Bug. They have all different kinds of ducks...check it out at Bucks for Ducks and get your DUCK!!!!
Road to Discovery, Dean Greg Crawford's Blog
We had the pleasure of meeting Greg Crawford, the Dean of Science at Notre Dame. He is an awesome man doing a great thing for the NNPDF community. For the last two years he has biked all over America to raise awareness for NPC and this year he is biking from Boston, MA to Pebble Beach, CA. He left May 21 and plans on arriving in Pebble Beach June 22....amazing huh? He will be arriving in time for the Ara Parseghian, a form ND football coach who lost three grandchildren from this disease, golf tournament to raise money for NPC.
He has been blogging about his journey and I thought some of you might what to take a look!!
ROAD TO DISCOVERY
Read more »
The Ride Schedule
He has been blogging about his journey and I thought some of you might what to take a look!!
ROAD TO DISCOVERY
Day 9: Holiday City, OH, to Notre Dame!
Today was a terrific day for riding and reaching home for a visit. Peter, a math professor from Notre Dame, and Tom, a friend from Knollwood Country Club, joined us on the sunny, breezy ride from northwestern Ohio.
Read more »
The Ride Schedule
| Date | Arriving |
|---|---|
| 5/21/2012 | From Boston, MA to Sturbridge, MA (75 miles) |
| 5/22/2012 | Lakeville, CT (100 miles) |
| 5/23/2012 | Walton, NY (130 miles) |
| 5/24/2012 | Corning, NY (125 miles) |
| 5/25/2012 | Salamanca NY (105 miles) |
| 5/26/2012 | Meadville, PA (100 miles) |
| 5/27/2012 | Elyra, OH (100 miles) |
| 5/28/2012 | Bowling Green, OH/Montpelier, OH (100 miles) |
| 5/29/2012 | Granger, IN (95 miles) |
| 5/30/2012 | Matteson, IL (100 miles) |
| 5/31/2012 | Mendota, IL (100 miles) |
| 6/1/2012 | Davenport, IA (85 miles) |
| 6/2/2012 | Oscaloosa, IA (125 miles) |
| 6/3/2012 | Creston, IA (110 miles) |
| 6/4/2012 | Bellevue, NE (96 miles) |
| 6/5/2012 | York, NE (110 miles) |
| 6/6/2012 | Holdredge, NE (120 miles) |
| 6/7/2012 | McCook, NE (80 miles) |
| 6/8/2012 | Yuma, CO (100 miles) |
| 6/9/2012 | Byers, CO/Denver,CO (100 miles) |
| 6/10/2012 | Denver, CO – ND Club Tour |
| 6/11/2012 | Granby, CO (95 miles) |
| 6/12/2012 | Craig, CO (120 miles) |
| 6/13/2012 | Rangely, CO (90 miles) |
| 6/14/2012 | Altamont, UT (95 miles) |
| 6/15/2012 | Park City, UT (90 miles) |
| 6/16/2012 | Wendover, NV (160 miles) |
| 6/17/2012 | Ely, NV (120 miles) |
| 6/18/2012 | Fallon, NV (100 miles) |
| 6/19/2012 | South Lake Tahoe, NV (100 miles) |
| 6/20/2012 | Elk Grove, CA (100 miles) |
| 6/21/2012 | Livermore, CA (100 miles) |
| 6/22/2012 | Monterey/Pebble Beach CA (100 miles) |
September 17, 2011
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.
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!!
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.
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| 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!!
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| Virginia Beach |
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| The fishing pier in Virginia Beach |
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| Ty on the SS Wisconsin |
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| See how the bridge goes under the water |
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| Sy and Ty at the Capitol |
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| Tylor and I with the Wright brothers |
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| Eating Crab on the beach |
January 13, 2011
Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine
The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including Niemann-Pick Disease. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.Check out the story on the Online Fishermen (scroll to pages 46-47) or visit the NNPDF's NewsLine page for a link to a JPG of the article.
The NNPDF will be the recipient of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).
Taken from the NNPDF blog
For full details including registration information, rules, etc., please visit http://www.fishingforcharities.net/."
God Bless
October 1, 2010
Are you ready for the Challenge???
Take the NPD 10 – 10 – 10 Challenge!
Please Help Raise Awareness for Niemann-Pick Disease
Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during
October National Niemann-Pick Disease Awareness Month!
Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).
Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us.
Here are some simple ways you can help families affected by Niemann-Pick Disease on 10-10-10:
1.Create awareness of NPD by forwarding this message to 10 (or more) people in your email address book.
2.Post this message (or your own message about Niemann-Pick Disease) to your Facebook page or blog. Post a link to the NPD Awareness Facebook page (click the Facebook icon on the NNPDF Home page at www.nnpdf.org).
3.“Tweet” about NPD and share the NNPDF Web site address: www.nnpdf.org
4.Take a group of friends out for coffee or dessert. Tell them about NPD and the devastating effect it has on families. (We will be happy to supply newly updated brochures for your use, just contact us.)
5.Donate $10 for NPD on 10-10-10 and encourage your friends and family to do the same. Most of us spend at least $10 a week on discretionary items (snacks, soda, a movie, fast food). Ten dollars doesn’t seem like a whole lot of money, but when many people each give ten bucks, it adds up! Donations may be mailed to the address above, or made online via our Web site: www.nnpdf.org.
6.Encourage 10 contacts to check out our NNPDF October Awareness Online Auction! Bid high, bid often! http://www.biddingforgood.com/nnpdf/2010
Thank you very much for your help and continued generosity, on 10-10-10 and always! Those who live with the challenges of Niemann-Pick Disease need and truly appreciate your kindness and support, today and until the cure is found. Together, we will Persevere in Our Quest for a Cure!
Together, we can make a difference!
October is National Niemann-Pick Disease Awareness Month
Please help us maximize this opportunity to raise awareness and funds for vital research!
Shop the NNPDF Online Auction!
September 23, 2010
National Niemann Pick Online Auction
With Niemann Pick Awareness Month right around the corner I wanted to let you all know that the National Niemann Pick Disease Foundation (NNPDF) is having an online auction to help raise money for research and to help families who have children with Niemann Pick Disease. The NNPDF has been a great support system for us. We have meet many great people through the foundation and it comforting to know you can talk to peolpe going through the same things your are.
Please take a moment to visit the online auction and please bid generously!! There is a Brett Favre signed Viking jersey donated from the Brett Favre 4ward Foundation in honor of Tylor. We wrote the 4ward Foundation after Ty met him asking if he would donate something to either the Make A Wish foundation or the NNPDF. About six months went by and we didn't hear anything and then the NNPDF calls me to ask about the Favre jersey they received. I was so touched that Brett did that he is truly a giving man. Thanks Brett!!
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