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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

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.”

Category : Blog

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!!

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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!!!

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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.

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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!!!

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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!!!

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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!!!!

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Orlando, Florida Here We Are!!!!!

On Dec. 16, 2010 we went off to Orlando, FL to take Gavin and Audrey to Disney World for a week long vacation courtesy of the Make-a-Wish foundation. Getting here was very exhausting, but so far the experience is amazing. It’s day 4 of our trip and tomorrow we head to Universal Studios and the Epcot Center depending on how Gavin does that day. We are staying at this wonderful resort known as “Give Kids the World Village” which is specially made for families with kids who have life-threatening illnesses and truly Gavin and Audrey including ourselves, have been treated like stars. On day 2 of our trip, we went to Disney World and it was so priceless to see the excitement and joy in Audrey’s face. She was so overjoyed when she saw Mickey Mouse and Donald Duck (which she pronounces as Mee Mouse and Da Duck). Gavin has been sleeping during most of the times we are at the park, but it was priceless to see his expression when he saw “It’s a Small World” and “Beauty and the Beast.” Thanks for checking in. More updates to come later.

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Gavin Is Finally Home!!!

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!

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Bowl for Hope: Team Gavin was a huge SUCCESS!!!

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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It’s day 6 and we are still in the hospital. Gavin is off of morphine and is tolerating the feedings in his gtube. He is still a bit sore from the surgery, but is surely recovering. We hope to go home very soon! Thank you to all who have been very supportive with amazing thoughts and prayers. Gavin truly loved all the company who visited him in the hospital. Gavin continues to have the energy to fight because of God and the wonderful people that he brings into Gavin’s life.

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Hi all! Gavin was admitted to the hospital at Kaiser Medical Center on thursday night 11/11/10 for an emergency surgery for his gtube area and will need a lot of recovery. We ended up celebrating his birthday at the hospital. He is doing ok and slowly recovering thanks to morphine, but continues to be very uneasy due to a possible infection. He is currently on anti-biotics and lots of pain meds. We will keep you all posted. Please pray for us! View Album


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Gavin Loves His Nurses

Because of Gavin’s critical disability, we were eligible for nursing assistance. Since June, we have had a flow of different nurses come to our home to help care for Gavin and they have all been wonderful. It was very important, however, to Ferd and I to have a stable nurse. Luckily, we were blessed with Rhea in August who is Gavin’s permanent nurse. She has been great with him all throughout and ironically, she is also originally from Guam, where Ferd and I are from. Rhea takes special care of Gavin after school until his last feeding. It has truly been a life saver having a nurse. Taking care of Gavin and Audrey Bella both can be so tough and exhausting at times especially when Ferd is out of town for work. Now that we have Rhea, I’m able to do the most basic things such as cook dinner and take a shower before midnight. During my 2 days off from work, she accompanies us during Gavin’s doctor, therapy, and faith healing appointments. Not only does Rhea, as Gavin’s nurse help bring sanity to our family and allows us to also focus on Audrey Bella, but having the help also allows us to do more for Gavin in terms of spending time doing research and getting involved with fundraisers. Gavin also has a nurse at school by the name of Chris and she too is wonderful. She meets him at our house every morning and rides with him in the bus to and from school. Gavin has reached a point where he needs constant supervision as he always needs to be suctioned or needs to be soothed when experiencing a seizure. We thank God most of all as he has brought so many special people in our lives to help make a difference with Gavin.

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Meet Gavin

View Gavin’s Video

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A "Night of Hope for Gavin" was truly a success!!!

Gavin’s major fundraiser, “A Night of Hope for Gavin” was truly a success which took place on Friday, August 20th, 2010 at the Hensley’s Flying Elephant Pub & Grill located in Carlsbad, California. It all started with the idea and motivation of my friend and student’s mom, Beth Rice-Vinas who was so eager to do something for Gavin as he continues his battle with Tay Sachs Disease. Along with the help of Heather Champoux-Rayner, Ferd’s good friend and co-worker and the rest of Ferd’s co-workers and our family and friends, Gavin’s fundraiser was indeed a success. We were so overwhelmed and overjoyed with all the positive energy and support from all the people gathered at the venue who were all there to support Gavin. It was amazing to see lots of beautiful signs with Gavin’s picture on it and all the many people wearing “Hope for Gavin” T-shirts and bracelets. The crowd was in silence with tears and emotion as they saw an 8 minute video made by Don Rayner which captured a glimpse of what Tay Sachs Disease is and how we care for Gavin on a daily basis. The crowd was also moved by the pictures of Gavin and Bella and our family, that was photographed by my cousin’s husband, Patrick Bondoc. The silence continued as the audience listened to Ferd and I express our pain and journey of hope for Gavin. The night continued with the drawing of exciting raffle prizes, a successful silent and live auction, and of course, the entertainment from some of the coolest bands such as Groove Kitty, Remma, and 56 Hope to name a few. With all of the collaboration, we were able to raise over $10,000 that will be used for Gavin’s care, future treatments and for the Cure Tay-Sachs Foundation. This fundraising event was a true testimony of the community gathering together united for Gavin and united for a cause.

*Pictures of the event and video link will be available at www.hopeforgavin.com

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We now have the vest thank God to the Sheppard Family

Our pulmonologist suggested that the only way we can move forward in obtaining a vest for Gavin (a vest which will help with loosening all the gunk in Gavin’s respiratory system) was to do a CT Scan which involves unnecessary sedation. Ferd and I have been so hesitant to put Gavin through sedation as we are not sure of the side effects on kids with TSD (Neither does most doctors). In the midst of this distress battling whether we should do the ct scan or not, we were luckily blessed by Gary and Elizabeth Sheppard from Ontario, Canada who has heard about our situation and has graciously donated their late son’s vest, Noah Sheppard who past away from Sandoff’s Disease in September of 2009. We wanted to also thank the Roman Family of Connecticut for connecting us to the Sheppard family.

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24 Hour EEG for Gavin

Last week Thursday, we all went to LA to do Gavin’s 24 Hour EEG to accurately detect any seizure activity in his brain. He was closely monitored with a video and with all sorts of wires taped to his head and wrapped around with gauze to securely keep the wires intact. We should be getting the results before the end of the week. Gavin overall is doing ok. More updates to come later.

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Updates from our Tay Sachs Disease Conference Part 2

Hello all,
I know it has been so long overdue since I have posted an update let alone an update about our experience at the Tay Sachs Disease Conference in St. Petersburg, Florida in April 2010. Much has happened these past few weeks with Gavin health wise, but overall he is ok. We have recently switched his feeding to an amino-acid based rather than milk-based formula which is helping him tremendously. We have had to suction him more frequently as his secretions continue to be out of control, but the suction machine and Robinul medication (which reduces secretion) is helping things to be more manageable. Anyhow, since my last post about our conference experience, we have gained many new and amazing friendships with people from all over the world who continue to keep in touch with us frequently, thanks to Facebook and emails. On top of the amazing support sessions for parents, there were other wonderful and innovating sessions that we were looking forward to at the conference. One of them were the
symptoms management session, were Ferd and I learned about great topics such as secretion and seizure management, the myths of Hospice (and that it does not necessarily mean a “death sentence”)sensory stimulation, and the greatness of “The Cough Vest” which is a vital equipment to help reduce respiratory complications. The next and exciting session that Ferd and I have been waiting for was the latest on Gene Therapy and other research updates/breakthroughs. This was truly the moment and one of the main reasons for attending the conference and that is, to hear about the hope for the cure. It was a bit overwhelming at first as we gathered in several small groups listening to all the information from these doctors and scientists from the Gene Therapy consortium and other institutes, but truly it was amazing. One of the scientists showed us a confidential slideshow of a cat with Tay Sachs Disease. The cat had lost a lot of weight, was weak and was barely walking. 7 months later after the Gene Therapy experiment on the cat, The cat was full of energy and had gained a lot of weight; It was able to walk and play and this was so astonishing. So astonishing that some of the parents in the group session also got so emotional thinking, “can’t we just do the gene therapy now, obviously it is working with the cat right?” But unfortunately as we were told, “FDA cannot allow a human trial based on the success studies with a cat as a cat’s brain cannot be compared to a human’s brain.” I began to feel so frustrated even if it all made sense. Fortunately, however, one of the scientists began to speak and said “we are more advanced and closer to a cure now than we ever were.” One of the amazing breakthroughs that we learned in the conference was that a farmer from Texas had discovered that his sheep were afflicted with Tay Sachs Disease. The farmer had discovered the problem with his sheep after consulting with doctors at the veterinary medicine school at Texas A & M University. Miraculously, the farmer and his wife are breeding the sheep with Tay Sachs Disease and are donating them to the Gene Therapy consortium to support further research. This was the best news that we have heard in months; Ferd and I were so elated at how far along the research has come. Ferd and I were lucky enough to meet the farmer as he attended the conference as well. It was told that “Tay Sachs sheep have great potential to advance for a cure because their brains are closer to human size.” The hope truly did seem closer. The next challenge was to begin the trials of Gene Therapy on sheep and if the sheep lived long at least for a year with continued progress, then human trials would soon be possible. It still seemed like a long road, but truly the conference reminded us that the cure is really close. The scientists are estimating that human trials may soon start at the end of 2011. For now, we are focusing on keeping Gavin as healthy as possible so that when human trials are finally here, Gavin will be ready for it. By the way, the gene therapy trials on sheep have finally started this month in May 2010. We are getting closer!!! Thank you for continuing to pray for Gavin. I apologize for the lengthy update, but I hope you find it worth it.

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The Pulmonologist Visit

A few days after Gavin was in the ER, we had an appointment scheduled to see our pulmonologist (which I had booked a couple weeks prior) to get a referral for a cough assist machine vest which is vital for the health of Gavin’s respiratory system. Though the equipment costs a whooping $15,000, it will do an effective job in keeping his lungs clear and will prevent any infections and the possibility of pneumonia. The devastating truth is that children with Tay Sachs disease or any neuro degenerating disease will eventually lose their ability to cough any gunk out of their body so this equipment can make a world of difference. Sadly, our pulmonologist, out of health care protocol, said that it may be hard to get an authorization to purchase this equipment for Gavin as he hasn’t had any frequent pneumonia, respiratory infections or ER visits so it may be hard to convince Kaiser Permanente to purchase this for Gavin. Wow, Ferd and I could not believe what we were hearing. So pretty much, in a nutshell, Gavin had to have had X amount of pneumonias, ER visits etc…. until finally, the insurance company will say, “ok, I guess it’s time for Gavin to have the equipment he needs.” Whatever happened to prevention or the notion of, if you are sick and you need help, you’ll get what you need-period!? I guess there is some truth to Michael Moore’s documentary, “Sicko.” Our pulmonologist did (not surprisingly) recommend increasing Gavin’s current medication and introducing 2 other drugs that may help with his secretions and congestions;- of course, it’s the cheaper option right? But Ferd and I are going to fight to get the equipment that Gavin needs, I mean if we can avoid giving Gavin more drugs, then so be it.

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Gavin @ the ER on 4/21/10

I took Gavin to the ER on Wednesday, April 21, 2010 as his congestions were out of control. That day, when I picked him up at day care, I could tell he was having a bit of a hard time breathing comfortably as his chest just sounded so gurgly. We have been using the suction machine to help suction out all of the secretion, but we needed something more powerful to get the “gunk” out of his chest. Prior to the ER visit, Ferd and I have been doing CPT (Chest Physical Therapy) on Gavin to help loosen all the gunk in his chest and suctioning, but still his congestions did not get any better. On the day I took Gavin to the ER, Ferd was in Portland for work so it was a bit challenging, but thankfully my sister watched Audrey Bella that day. I was impressed with the service and attention that Gavin received in the ER at Kaiser Medical Center. Gavin was given a respiratory treatment using albuterol and major CPT by the respiratory therapist. Gavin was also given a urine analysis and CK test to determine if he had any signs of muscle deterioration and they all came out normal which is great! After leaving the ER at 2am the next morning, Gavin was sleeping like a baby as his chest was all cleared up. We will be seeing a pulmonologist on Monday to see if we can get a Cough Assist Machine/ Vest that will aid Gavin and ensure healthy lungs and a respiratory system. Thank you to all who continue praying and thinking about Gavin. I’ll post more updates about our Florida trip to the Tay Sachs Disease conference (part 2) shortly.

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