It was a long day at the hospital. Our good friends, Joan and Wela from Virginia came by last night to see Gavin and to take us out for a short break from the hospital. It really helps to have friends close by considering that we are so far away from home. Gavin is resting comfortably in the PICU, but I can tell he is so uncomfortable being intubated- who wouldn’t be right? He is still heavily sedated on morphine and versed so that he is completely still while intubated and his last dose of anti biotics will be tomorrow. I have been doing my research about Botox as a cause for upper airway obstruction because this is what my gut is telling me could be the possible cause. Gavin got Botox injections in the salivary glands to help minimize secretions on June 21st so this may be a possible side effect, but very unknown with kids who have Tay Sachs Disease. It’s sooooooo tough because we want to do everything to help Gavin thrive, but nothing is definitive with these kids with TSD; everything is trial and error. It’s so tough seeing our sweet boy hooked to all these machines, but I know he is a fighter, a warrior, and a big reminder to hold on to all the hope. Even if Gavin cannot necessarily process what he sees or hears, I know his sense is so powerful- he knows when we are in the room right next to him as his heart rate increases when we leave the PICU room. We meet with the medical team from Children’s Hospital and the NIH and will also include Gavin’s San Diego doctors via tele conference later this afternoon to discuss all steps, protocol, and options on what will happen tomorrow. Gosh this is sooooooo tough, sometimes you just want to be a robot for a moment, but then I snap back and remind myself to be strong for Gavin. I always have to remind the doctors, don’t default to Gavin’s diagnosis because when there is life, there is always-always hope. Hang in there my son! More updates to come. Pls never stop praying for Gavin.

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It’s getting very complicated right now. The ENT and ICU team have decided to hold off on extubating Gavin until Friday to finish the course of anti-biotics to rule out that it’s not an infection in the upper airways. Some doctors think it could be a possible side effects of the Botox in saliva glands that was injected on Gavin a few days before our trip to the NIH. Or it also could be an infection that worsened his upper airways or just a progressive symptom of the disease due to low muscle tone in the larynx-oddly enough which if it was part of the disease, it truly caught us by surprise; but according to some geneticists, this situation is not a typical Tay-Sachs symptom. This is very stressful, but all we can do is wait. I’m calling several other doctors for their opinion, but all their opinions vary. Gavin’s lungs are so healthy and it’s just strictly upper airway. I’ll know more information on friday. Worst case scenario for Gavin would be a tracheostomy- an invasive surgery we hope can be avoided at all possible. We wish we could come home soon and wish we could hold Gavin, he’s just so delicate in his bed in the PICU hooked to all the monitors and his breathing tube. Thank you again for praying for Gavin.

Please never stop praying for him. I know he will make this through! Hope is always alive. If there is life, there is hope. Hang in there my son!

Gavin is back at the PICU heavily sedated because kids who have a breathing tube must be very still. His o2 stats and heart rate look great and he is resting comfortably. Our good friends, Boots and Peter took us out for dinner and to see 4th of July fireworks right by the Capitol, which was a nice short break from the hospital. Tomorrow, July 5th will be a critical day as he will be sent to the OR and extubated and seen by the ENT surgeon and team of doctors. Once they figure out the tightening of the muscles, they will decide from there what will be the next steps for Gavin. Worst case scenario is that they will do a tracheostomy on Gavin- a surgery we hope can be prevented. This boy goes through so much, but is such a brave warrior. Please continue to pray for Gavin. We really need everyone to unite and pray for Gavin. Thank you!

Gavin was sent to the OR this morning to be extubated (to remove the breathing tube) and he did well, but when he returned to the PICU, Gavin started to have the stridor breathing. He was breathing ok, but beginning to show signs of difficulty so the ENT and ICU doctors decided (for pre-cautionary measures) to re-intubate him again and wait until Tuesday to be re-examined by an ENT specialist surgeon. Gavin’s lungs are great and healthy and there are no inflammation around the tissue surrounding his airways so everything looks good; however, when doctors removed the tube and as Gavin was weaning off from his sedation meds, his muscles around the airway began to tighten causing dynamic upper airway obstruction. This is the mystery part because all of these are not symptoms of Tay-Sachs Disease. Gavin is doing fine at the moment back at the PICU so we will know more once he is seen on Tuesday as to where we go from here. We miss Audrey Bella so much already, but she is with my parents and sister who all have been so supportive and helpful so she is in good hands. Audrey will be heading to Vegas to stay with my parents for a while until we return to San Diego.
Gavin desperately needs your prayers so please continue to do so. Thank you all for checking.

-Jan

Gavin is doing great today. They were supposed to remove his breathing tube (extubate) yesterday, but the ENT doctors would like to make sure the swelling of the tissue around his airway has significantly decreased so there is a possibility they can extubate tomorrow. Gavin is really showing a lot of good signs. Our good friend Melvin took us out for lunch around DC just to take a short break from the hospital. Gavin is still being critically monitored at the PICU. Thank you all for continuing to check up on Gavin.

Gavin is showing good signs of improvement. There is evidence of good airway leakage which is a great sign that the swelling of tissues around his airway has decreased. Gavin is still in PICU under critical supervision. Thank you all for your prayers. God is truly listening.

Gavin had caught a sinus infection that was elevated on Tuesday, June 28, 2011 which eventually led to swelling of tissue by his airways thus causing him to have difficulty breathing. He was rushed to OR and ICU @ NIH and doctors placed a temporary breathing tube to help him. This was such a scary experience as this happened all so fast. We did not see this coming as Gavin was doing fine during the study until Wednesday. He is going to be transported to Children’s Hospital in Washington DC. This is very hard right now so we need everyone’s prayers.

Gavin in PICU at Children’s In DC. Gavin needs your prayers, he was rushed to ICU and OR @ NIH “We did not see this coming” He was struggling to breath out of no where yesterday…. Surgeons had to put temporary breathing tube through Gavin’s throat….”

Gavin had his vision screening test yesterday with the opthamologist. It was kind of an emotional experience as he said Gavin can definitely see light, but does not think his brain is able to process what he sees which technically labels Gavin as being blind. But that does not matter because Ferd and I know that he still has a stronger sense of hearing and touching. I know that for sure because when we are not around, Gavin senses that and when we are around him, he totally senses that too. Hang in there my son.

We’re finally here in Bethesda, Maryland for Gavin’s natural history study evaluation for Tay Sachs Disease at the NIH. The hopes of this study is to provide more information that would essentially be beneficial for gene therapy down the line. It’s not the cure whatsoever , but it’s one major step in hopefully getting there. We made a stop to Washington DC yesterday for Gavin to see the nation’s landmarks and monuments. It was beautiful, but the humidity was making Gavin uncomfortable.

Today, Gavin has been finally admitted to the NIH. Day 1, Gavin will be undergoing a bone density and hearing exam. More updates to come.

The Tay-Sachs Gene Therapy (TSGT) Consortium clinical trials could begin as early as September 2012 – just 15 months away!!

The investigators, funders and other team members met recently to discuss the possibility of accelerating the timeline. Sleeves were rolled up, everything was put on the table and it was decided that we can do this!

There are challenges still to overcome like funding toxicity and animal studies and vector production. In addition to the NIH grant, $1.2 million dollars is necessary to make the goal of September 2012 a reality. The family foundation affiliates have already pledged 75%, or $900,000! Only an additional $300,000 still to raise! Learn more about how you can help below. Don’t be intimidated by the number. Every little bit will bring us closer to a day free of Tay-Sachs and Sandhoff!

Ten years ago NTSAD recommitted itself to funding cutting-edge research and founded the Research Initiative; 23 grants and $1.9 million later we are closer than ever to a cure. We are proud to work behind-the-scenes of managing the research grant process as well as raising needed dollars, but we tip our hat to our family foundation affiliates for their passion and drive to raise the majority of funds.

Together we can beat these diseases! Please join us in the fight and click here to contribute to HOPE in just 15 months. All donations made through the holiday weekend will go directly to this effort. In addition, donations may also be sent anytime to the office; simply note the gift is for HOPE. All major credit cards are accepted. NTSAD 2001 Beacon Street, Suite 204, Boston, MA 02135

Our Family Foundation Affiliates: Cure Tay-Sachs Foundation, Cameron and Hayden Lord Foundation, Mathew Forbes Romer Foundation,
Pesotchinsky Family Fund, and the NTSAD New York chapter.

NTSAD’s HOPE Fundraising Drive
NTSAD has cultivated and supported research for over half a century. In keeping with this tradition, we invite you to join us and our prestigious family foundation affiliates in moving research forward. Contact Diana Pangonis, Development Manager to learn more about NTSAD’s HOPE fundraising drive.

Remember you can support this effort anytime by making a donation and noting HOPE.

NTSAD Researcher receives 2011 Outstanding Investigator Award from American Society of Gene & Cell Therapy

We are proud to report that Miguel, who is the program manager of the TSGT Consortium and associate professor of neurology at the University of Massachusetts Medical School, has received the 2011 Outstanding New Investigator Award from the American Society of Gene & Cell Therapy (ASGCT) for his contributions to the field of gene and cell therapy.

“It’s rare for an investigator at this stage of his career to have accomplished what Miguel has,” said Guangping Gao, PhD, director of the Gene Therapy Center at University of Massachusetts Medical School. “This award recognizes the novel insights Miguel has contributed to the field of gene therapy and is a reflection of what a rising young star he is.”

Gavin’s 1st golf tournament held on a beautiful morning and afternoon on Friday, May 20th 2011 at the Carlton Oaks Golf Club in Santee, CA was indeed a huge success! We cannot thank Scott Hemsley enough. This event would not be possible without him. He made the event his own and because of his energy and passion, the event was indeed a hit. Scott also rocked especially during the raffle and auction portion of the event. The golfers were very happy with the turnout; during the banquet, we have never seen so many men in a room get so emotional especially after watching Gavin’s video made by our friend, Don Rayner. The event was even more special as Gavin entered the room with Ferd, Audrey Bella and his nurse, BJ. The moment was truly precious with Gavin in there because it put more meaning, purpose and life to the whole event. We would also like to thank Heather Champoux-Rayner, and my sister Joyce Ibarra, for doing all the major details from organizing volunteers, soliciting donations and golfers and media promotions. We would also like to credit the beautiful graphics thanks to our talented Michelle Reynon from Small Village Designs and also thank you three for volunteering that day. We also wanted to thank the people who were there that day volunteering, taking pictures and showing support such as Don Rayner (our beloved emcee and
photographer), Len and Matt Wilson, Nancy and Jay Bandoy, Cherelle Hemsley (for providing fruits and water for golfers), Ernie Leal, and Cheryl Andaya (who also was a photographer at the event). We also wanted to thank the rest of the team and LMR Solutions for making the event happen from emailing and promoting Gavin’s event on facebook, maintaining Gavin’s registration site, posting flyers, and showing your love and support in numerous ways. We cannot thank you all enough for working hard together to raise funds for Gavin and to keep the hope alive for him and to help fight Tay-Sachs Disease. Hope is truly real-hope is alive!! Thank you all very much for a job well done! Go Team Gavin!!!

I just wanted to share the exciting news that the NIH (National Institute of Health) has selected Gavin to do the Natural History Evaluation in June. This is exciting news because it is a vital step in case Gavin gets picked for Gene Therapy. The waiting list for this evaluation is insane, but with lots of persistence, they were able to select Gavin to do the test in June. The evaluation will consist of intense medical evaluation from MRI, CT scan, enzyme study etc… pretty much they want to see Gavin’s baseline now so when he does undergo gene therapy, they can refer back whether he has made any improvements with the treatment. The NIH will be paying for our travel expenses and for the evaluation. I can’t stress enough how elated we are about this exciting news. For those of you praying for Gavin, God is truly listening to your prayers. This is such a hopeful sign for Gavin. I also want to clarify that this is not gene therapy, but a vital step necessary towards gene therapy. We leave on June 25th to Bethesda, Maryland and Washington D.C. for the evaluation and will be back on July 2, 2011. There is truly hope in everything you do for Gavin. We are holding on to all the hope we can get. Hope is what keeps us all alive!!!

MOVING CLOSER TO A CURE

The Tay-Sachs Gene Therapy Consortium is working diligently to begin human clinical trials in 2013! It is a complicated process but the committed, dedicated TSGT Consortium team with support from NTSAD and the family foundations are up to the task.

NEXT STEPS
What happens next?

TSGT developed a clinical trial plan and recently submitted to the Food and Drug Administration (FDA) an information package summarizing the development program for the Investigation New Drug (IND) application necessary to initiate the clinical trial. A meeting is schedule in February. 

The consortium is currently submitting an application to the NIH Rapid Drug Access to Investigation Drugs program to support the production of the clinical trial grade vectors necessary for the trial.

Additional Studies

A better understanding of Juvenile Tay-Sachs and Sandhoff is necessary to move forward with the first steps of the clinical trial.

Challenges

Funding for the clinical trial and necessary additional studies have yet to be secured. TSGT will apply for NIH support and continue to work closely with NTSAD and the Tay-Sachs Family Foundations.

ANIMAL UPDATE

Cats
The cat studies continue to be well ahead of schedule! Nine cats have received the gene therapy. The four oldest cats are currently more than twice as old as untreated cats! Although the oldest two have noticeable rear leg weakness they are still able to walk, eat and use the litter box independently. None have shown any adverse reaction to the gene vector. 

Other cat studies defining the actual target dose for the human clinical trials continues to progress well and ahead of schedule.

Sheep

Two of the four affected sheep that received the gene therapy continue to do well. Two were left untreated as controls. These results are encouraging but a better understanding of the natural course and variability of the disease in sheep is necessary before drawing conclusions.

On March 30, 2011 we head off to Boston, Massachusetts to attend our second Tay Sachs Disease Conference. We look forward to connecting with our second families who walk the same walk as us and to learn more of the latest research updates on Gene Therapy and the other experimental medications and therapies to help fight Tay Sachs Disease. Because traveling to the east coast with children is so tough, we decided to leave Audrey Bella with my parents. From what I hear, she’s already having a blast with Grandpa and Grandma who spoil her like crazy! Luckily, the plane trip to Boston was not so bad as Gavin slept through the entire flight. More updates to come. Stay tuned!!!

Because Gavin is just getting longer every minute, it was time for us to get him a nice and comfy chair for him to relax, eat, and nap on. He still uses his tumble form chair in between. Looking for the perfect chair was tough and we wanted it customized to meet his needs. After weeks of searching, we finally bought a big brown microfiber recliner for Gavin. Although it does not have a seat belt, he is very safe in it and It is well-worth the money. He absolutely loves his chair!!!

On February 15, 2011 Gavin got his first dose of Botox injected into his calves to help relax the muscles. Kids with TSD eventually get tight all over their body especially in their arms and legs. Although it took a while for the results to kick in, it is now a bit easier to put on his leg braces. There are so many days when Gavin surprises us with strength when he does his physical therapy- some days he is just so tired and weak, and other days, he can take many steps with help and can tolerate being on the stander for a good 30 minutes- Go Gavin!!!!

After almost 2 weeks of being at the hospital, Gavin was finally discharged last week Wednesday, Nov. 24, 2010 just in time for thanksgiving. Being at the hospital for that long was no fun, but with all the wonderful nurses (especially Beth and Susan) and all the amazing people who came to visit us at the hospital, it made the experience so positive for Gavin. Shortly after being discharged, we drove to Las Vegas to my parents’ place the next day to pick up our daughter Audrey Bella and to spend thanksgiving with the rest of the family. Currently, Gavin is doing fine and is fully recovered. We are now consistently feeding him through a continuous feeding pump with an IV pole so that his feeding is done through an hour duration. He is still agitated at times which could be from post-surgery pain, but is relieved through pain meds. I am such a minimalist when it comes to medication, but this time, I need to give in as I hate to see Gavin in pain. Still I cannot thank everyone enough who has been so supportive while we were at the hospital. The lists goes on and on…. It has been a long and exhausting journey for all of us, but we hope to get some r & r by mid December as we head to Orlando, Florida for Gavin’s dream vacation to Disney World courtesy of the Make-A-Wish Foundation. Stay tuned!

I cannot stress enough how grateful we are for our wonderful friends and family for putting together such an amazing family fundraiser for Gavin. The Bowl for Hope: Team Gavin event held at the Mira Mesa Bowl on Nov. 20, 2010 was indeed a success! We were able to raise a lot of money for future treatments for Gavin and the Cure Tay Sachs Foundation and hopefully give many strangers a glimpse of our journey with Gavin and the devastation of Tay Sachs Disease. Despite the rain on a Saturday evening, the turnout was fantastic. The line of people by the entrance was overwhelming and my sister Joyce, Matt, and Vera along with Art’s mom Myrna were working round the clock to make sure everyone was accounted for as they purchased entrance tickets for the fundraiser. Rhea, our nurse was behind the Tay Sachs awareness table and Nancy and Jay were manning the table for Hope for Gavin merchandises. Despite the busy traffic at the bowling alley, everything went so smoothly. So many new and familiar faces were everywhere at the fundraiser. Patrick as always continues to do a wonderful job photographing the event and Don and Art were fantastic emcees. My dearest friend Len decorated the bowling alley with beautiful mylar balloons. Our friends, Heather, Mary, Ken, Izumi and Sami also pitched in to help wherever possible. It was also cute to see our friends’ children Tierra, Gia, and Isabella passing out Tay Sachs brochures and telling everyone to sign Gavin’s poster. Still I cannot stress enough that this event would not be possible if it were not for our friend, Ernie who came up with the idea and was the liaison with the bowling alley and our dear friend, Michelle, who has put a lot of time, energy, effort and passion into organizing and marketing this amazing event as well as coordinating the team. Thank you so much Team Gavin!!! This event would not be possible without you all! Though Gavin would have loved to be at the fundraiser, he was at the hospital recovering from his emergency surgery that night. As we continue to organize fundraisers and spread awareness for Tay Sachs Disease, the hope for a CURE for Gavin and all kids suffering this punishing disease is truly around the corner.

I cannot stress enough how grateful we are for our wonderful friends and family for putting together such an amazing family fundraiser for Gavin. The Bowl for Hope: Team Gavin event held at the Mira Mesa Bowl on Nov. 20, 2010 was indeed a success! We were able to raise a lot of money for future treatments for Gavin and the Cure Tay Sachs Foundation and hopefully give many strangers a glimpse of our journey with Gavin and the devastation of Tay Sachs Disease. Despite the rain on a Saturday evening, the turnout was fantastic. The line of people by the entrance was overwhelming and my sister Joyce, Matt, and Vera along with Art’s mom Myrna were working round the clock to make sure everyone was accounted for as they purchased entrance tickets for the fundraiser. Rhea, our nurse was behind the Tay Sachs awareness table and Nancy and Jay were manning the table for Hope for Gavin merchandises. Despite the busy traffic at the bowling alley, everything went so smoothly. So many new and familiar faces were everywhere at the fundraiser. Patrick as always continues to do a wonderful job photographing the event and Don and Art were fantastic emcees. My dearest friend Len decorated the bowling alley with beautiful mylar balloons. Our friends, Heather, Mary, Ken, Izumi and Sami also pitched in to help wherever possible. It was also cute to see our friends’ children Tierra, Gia, and Isabella passing out Tay Sachs brochures and telling everyone to sign Gavin’s poster. Still I cannot stress enough that this event would not be possible if it were not for our friend, Ernie who came up with the idea and was the liaison with the bowling alley and our dear friend, Michelle, who has put a lot of time, energy, effort and passion into organizing and marketing this amazing event as well as coordinating the team. Thank you so much Team Gavin!!! This event would not be possible without you all! Though Gavin would have loved to be at the fundraiser, he was at the hospital recovering from his emergency surgery that night. As we continue to organize fundraisers and spread awareness for Tay Sachs Disease, the hope for a CURE for Gavin and all kids suffering this punishing disease is truly around the corner.

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