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The Tay Sachs Gene Therapy Consortium continues to make many hopeful and successful progress, but “TIME” is of essence for our kids. Here are highlights of the progress update as of February 2012. The full report is available through http://www.tsgtconsortium.com/reports or http://www.ntsad.org, but to spare you with medical jargon, here are the highlights. Please continue to pray for Gavin and that clinical trials will start as planned in the year 2012.
Tay Sachs Gene Therapy Consortium Update:
Treated GM2 cats lived an average of 16.7 months, or 3.7 times longer than untreated GM2 cats, which die at about 4.5 months of age. Remarkably, two AAV-treated GM2 cats are still alive at 24 and 20.7 months of age, an outcome that surpasses our initial expectations.
In year 1 of the research project, two Tay-Sachs sheep were treated with gene therapy, and they lived almost twice as long as untreated sheep. Now, in Year 2 of the project, 10 Tay-Sachs sheep were treated with gene therapy and 2 remain as untreated controls to see if year 1 results can be reproduced.
A new good manufacturing practice (GMP) facility has been identified to make vectors at a lower cost than originally estimated. We initiated a 4-month pilot program to validate the new facility’s ability to produce AAV vectors.
We have received approvals for upcoming safety studies in monkeys and the animals are scheduled to arrive within the week.
Natural history study: Recently we collected retrospective data on 10 juvenile patients to understand disease progression that led to the development of a new clinical severity scoring systems for these patients. Based on these studies we initiated a prospective study with 6 infantile and 5 juvenile patients.
A February meeting of physicians, regulatory consultants, and scientists was held in Boston to discuss the design of the first human clinical trial of AAV gene therapy for Tay-Sachs disease.
Numerous regulatory steps must be met before the clinical trial can begin, such as filing an investigational new drug (IND) application with the FDA and receiving approval from the institutional review board (IRB) at the Massachusetts General Hospital where we are planning to conduct the clinical trial.
The next step for our program is to conduct a pre-IND meeting with the FDA scheduled for the beginning of March 2012. According to FDA guidelines, the chief goal of the first clinical trial for any disease is to demonstrate safety of the potential therapy, though efficacy may also be evaluated for rare diseases.
It’s been a couple of months since I have last posted an update on Gavin’s blog- my apologies for not staying on top of it as I should be; something always seems to come up, and I’m thinking to myself, I should be on top of it as I managed to update Gavin’s blog almost everyday when he was in the PICU in Washington DC over the summer, but nonetheless, my to-do list keeps on growing and never seems to stop. So here I am, writing a recent update on Gavin with winter almost more than half way over. The holidays were filled with great family, friends, and of course lots of delicious and oh-so dangerous carb-loaded food; but luckily Ferd and I kept with our training for our first half marathon which really helped get us through the winter and helped us build strength as Gavin is getting so much heavier weighing 53 lbs at current. The tough part is always lifting him in and out of the car, in the shower, and pretty much anywhere where he needs to be transferred; Ferd and I do almost all of the lifting of Gavin for our nurses so that they don’t get burnt out. On January 22nd, Ferd and I completed our first half marathon in Carlsbad, CA. I was able to finish 13.1 miles of non-stop running at 2 hours and 36 minutes-not bad for first timers right? I really was dying at mile 11, but I kept thinking about how Gavin is always fighting every day to breath and that truly was my motivation to head to the finish line. Though 2012 remains to be a hopeful year, Gavin had it very rough on New Years day. The morning of January 1st, Gavin was on antibiotics as he had a mild case of Pneumonia.
That same day, Gavin was introduced to an oxygen concentrator machine at home and has been on continuous oxygen since as his sleep study indicated that there was a desaturation in his oxygen levels while asleep. Back in October, Gavin also experienced major tongue-biting episodes that were so uncontrollable and undeniably painful. We’ve tried almost every remedy including increasing his seizure medication to using a mouth guard (even if it was not recommended by our doctor), but still nothing really helped. His poor little tongue was so badly blistered and chipped, but has slowly recovered. Since Gavin has been on oxygen, the tongue-biting has not been occurring as frequent thank God! Gavin for the most part continues to stay strong and occasionally surprises us on some days not needing oxygen at all. His little sister, Audrey Bella, is so sensitive to her brother’s needs that she has become such a great help from wiping Gavin’s mouth to pouring Gavin’s breathing medications into the nebulizer. Through it all, we try to live a “normal” life with Gavin as much as we can taking him to the beaches, parks, restaurants, birthday parties, and even on road trips to Vegas to visit grandma and grandpa. I am not going to lie, it is really tough traveling especially lugging all of Gavin’s medical equipment, but we have managed to adapt. On a side note, Dr. Tifft, who is head of the natural history studies at the NIH for Tay-Sachs Disease in Maryland whom we met over the summer, came to see Gavin 3 weeks ago in San Diego while in town for a medical conference. She briefly updated me on the progress of gene therapy and from the sounds of it, she is very optimistic of a possible clinical trial being initiated in late fall to early winter of 2012.
Still, nothing is definitive and we can only pray that the possibility of gene therapy will come much sooner. I will be posting a recent detailed update on gene therapy from the Tay-Sachs Gene Therapy Consortium on my next post. In the recent months, I have been so emotional and saddened as 3 of our dear friends from the TSD community have lost their beautiful angels from the disease. It is so
excruciatingly unbearable, but this is the reality that TSD families face. I can only trust God and leave Gavin’s fate in God’s hands. I know that Gavin will continue to fight hard in honor of his friends who have earned their angel wings despite the fact that the battle is getting tougher. He is very strong and continues to be a brave warrior. Please continue to lift us up in thoughts and prayers. Thank you very much for reading this very lengthy update. If you are in the San Diego area, do not hesitate to give us a call. Thank you again!
Gavin turned 6 years old 2 days ago on Nov. 13, 2011 and it was a great day for him when a few close family and friends showed up at the house to help celebrate. It has been such a long journey since our last ordeal in Washington D.C. over the summer of 2011. I apologize for not posting frequent updates on Gavin’s blog as it indeed has been hectic trying to get back into the swing of things. To think, Gavin survived such a long stay in the PICU at Children’s National Medical Center in DC and the fact that he was close to needing a tracheostomy- wow, time and time again, our son has proved to be such a fighter and such a brave warrior. Gavin started 1st grade in August of this year @ Willow Grove Elementary and has a new nurse at school- Ms. Carol, who is fantastic. Gavin also has 2 new permanent nurses at home, Maria and Judith, who both work different 8 hour shifts to help Gavin, and they too have been so amazing! Truly, we have been so blessed with wonderful family, friends, and strangers that have come to our lives and have helped lift us up in so many ways. Gavin is doing well overall and has avoided frequent trips to the ER. He continues to be on bi-pap every night when he sleeps; this allows him to have more energy the following day. Gavin also continues to see his faith healer- “Auntie Apo,” every week and she has been such a blessing for him. We still cannot thank the Sheppard family of Canada enough, who donated the respiratory vest of their late son, Noah, to Gavin. Gavin uses his vest every morning and night and until recently, he has been using it on a massage table while he is on his tummy to incorporate postural drainage; the massage table allows gravity to effectively get all the gunk out that is being stimulated by the vest. His Godmother, Len, gave him the massage table and this has been so helpful for him. Lisa, mother of Nathan and Dillon, gave me the wonderful idea of doing the vest while Gavin is on his tummy- thank you Lisa! Like most kids with TSD, Gavin has good days and bad days, but for the most part, he continues to fight very hard. The ultimate goal is for Gavin to thrive so that he may have a chance for Gene Therapy, in which
optimistically, phase I clinical trials will begin sometime in 2012! Please continue to pray for Gavin- HOPE is definitely around the corner. Praise God for choosing us to take care of Gavin. We continue to pray to God for continued strength in this trial and journey. Thank you so much for checking in. James 1:12
On Sept, 18, 2011, The National Tay-Sachs & Allied Diseases
Organization will launch the first annual “Day of Hope” campaign. How Does the Day of Hope Benefit Research?
As you’ve heard, research is moving quickly toward clinical trials for Tay-Sachs and Sandhoff diseases. Over $900,000 has been pledged, but we still need to raise over $350,000 in the next few months to be able start the trials by the end of 2012. Let’s band together on September 18th and see what we can do collectively!
There is also research focused on Canavan disease gene therapy, stem cells, and anti-inflammatory therapies for Tay-Sachs and related diseases that is funded by the NTSAD Research Initiative.
In order to keep research on track, the Day of Hope is dedicated to specifically funding research. Visit http://www.NTSAD.org for more
After a long and crazy journey from Maryland, Washington DC and finally back to San Diego, Gavin is finally finally home. He was discharged from Children’s Hospital in San Diego yesterday late afternoon. You could tell Gavin knew he was home as when he laid on his recliner chair, he was instantly sound asleep peacefully with not a sound of any stridor breathing. Maria, his home nurse and Doreen, the nurse supervisor, were over at the house getting everything situated post hospital discharge. This was the first time in a month that the four of us were all finally home. Wow, it is such a great feeling to be home again. I want to thank you very very much for always checking the blog and for following Gavin and all of us in this journey. It was truly your prayers, love, concern, positive thoughts and energy that helped us see the light at the end of the tunnel. Though the journey is not over yet, we ask that you please continue to be with us all the way. God the father, has been so gracious and kind in holding our hand. A true testimony, that if it is in his will and if one continues to have faith, God will never leave you in your journey. I’ll definitely be posting more updates occasionally. Take care and remember, where there is life, there is always always hope.
Gavin was transferred from the PICU to the pulmonary unit on Sunday afternoon where nurses are specifically trained for respiratory issues. It was very nice to see a lot of our close friends and family come by and visit Gavin especially now that he is in a more “less stricter” unit in the hospital compared to the PICU. His stats look great and his blood gas results also came out very good. Gavin was supposed to be discharged yesterday, but the pulmonary doctor wanted to make sure his BiPap device was all in place and works successfully before releasing Gavin. He is really tolerating the BiPap device and he will only be using it at night which will surely help him get a good night’s sleep. We will repeat the sleep study next month to see if anything changes or if he needs to discontinue the BiPap. Gavin should be discharged later this afternoon and soon he will be finally home- yeah!!! Thank you again for checking in and for all your continued thoughts and prayers. More updates to come.
Gavin is still in the PICU. Children’s Hospital in SD is indeed different from the one in DC; I feel that they are more stricter here especially with visitation, but nonetheless, the medical staff is great. Gavin was extubated yesterday night in the OR and everything went well. Shortly after extubation, the ENT doctor also scoped Gavin to look at his upper airway which he said looks great with no inflammation, but a few secretions. He is no longer on any sedation meds via IV, but continues to get methadone and Ativan via gtube to help with withdrawals. His heart rate and O2 stats are also very good considering that he is completely breathing on his own now. Gavin still needs to see the pulmonologist at Children’s to fully determine if he needs the BiPaP device before he is discharged. We are hoping to take him home by Monday. Audrey Bella finally came back home with my parents from Las Vegas this morning and it was sooooooo nice to see our girl again- we missed her soooo much and she was so excited to see us again. Boy is she really talkative and inquisitive-we really missed her so much. We feel bad because we also left her with my parents in the summer of 2009 for 2 months when we took Gavin to the Philippines and Guam on a miracle mission trip 3 months after we found out about his diagnosis, but Audrey was only 7 months old then and even today, it didn’t seem like she was mad at us for leaving :p Ferd and I just can’t wait to go back to our regular routine and also for the 4 of us to be cuddling at home listening to Audrey sing and dance, holding Gavin in our arms with suction machine on stand-by, and watching movies as a family- a typical weekend for us (which may seem boring for some) but it sure is one of our favorite and priceless moments. Thank you for checking in. More updates to come.
The flight via medical jet was an experience, but nonetheless the medical transport team did a fantastic job in ensuring our safe return home. It was nice to finally feel the cool breeze with temp. at 68 degrees. I know DC is really feeling the heat and major sweat as the forecast was going to be 103 degrees this whole weekend. Gavin is now at the PICU at Rady Children’s Hospital in San Diego and is still intubated. His o2 stats and heart rate look great and extubation may start later this afternoon. If he is able to recover very quickly from sedation, we may take him home by Monday at the very latest. Thank you very much for checking up on Gavin. More updates to come.
Gavin just got re-intubated a few minutes ago and all went well. He is heavily sedated and his stats look great. We are just waiting for the medical transport team from San Diego to arrive any moment in our PICU room and off we go in our medical jet to SD arriving at Rady’s Children’s Hospital later this afternoon. As of now, I am 99% certain that I will join Gavin in the flight, but in case the pilot has a bad day or feels that it is best for me to fly separately, I have a back up flight later this afternoon (just in case). It’s 101 degrees right now with 100% relative humidity here in DC and it’s going to be even hotter this weekend- perfect timing to come home to SD with mid 70 degree weather. Thank you all for continuing to follow our journey with Gavin. The journey will never stop as we keep on going and I’m glad you are all with us on this journey. Thank you for always praying for Gavin. More updates to come as we arrive back in SD.
After a very long and HEATED discussion with all participating medical team members at the meeting Tuesday afternoon, Ferd and I were left with no choice, but to agree with the medical recommendation to re-intubate Gavin during the medical transport flight back to San Diego. Even though we as parents feel it would be safe for Gavin to fly without the need for a breathing tube, all the doctors at the meeting felt it would put Gavin at severe risk considering his obstructive upper airway which worsened either from the infection or side effects of Botox or a combination of both. It was very stressful. We felt almost attacked as the doctors were set on their
recommendation. If we did not agree with the intubation, the other alternative would be for Gavin to stay at Children’s Hospital in DC until he would be discharged (could be up to 2 additional weeks) and then be transported on our own via commercial air with no medical support so there, it did not leave us with any choice, but to agree or we would not be able to take Gavin home sooner. It was very stressful, emotional and tiring and I know that the ICU team wanted to transport Gavin through the safest possible method, but it was frustrating to see doctors (especially new ones that we have never ever met before) making their recommendations as if they know Gavin more than Ferd or I. Anyway, we didn’t have any energy to fight even if we feel that Gavin did not need intubation and though I can possibly make a case for patient rights and get an advocate, it would delay us from coming home. So Finally, Ferd will be arriving on Wednesday night in San Diego so that one of us is already there, and on Thursday morning, the San Diego medical transport team will be arriving and preparing for Gavin’s transport back home. The process will take long as the team will also confer with the ICU team. It’s still uncertain as of now whether I can fly with Gavin or not, but I hope to find out later this afternoon. The carrier that will be transporting Gavin will be a medical jet with a critical transport team consisting of an
anesthesiologist, respiratory tech, and registered nurse. Gavin will then arrive at Rady Children’s Hospital in San Diego by Thursday late afternoon. If all goes well, Gavin will be extubated that same day or early Friday morning and will stay in the PICU until he is discharged. Hopefully Gavin will not be in the PICU very long. We can’t wait to see Audrey Bella as well. Please continue to pray for Gavin and his safe journey home. More updates to come.
Wow, we’ve been here for almost a month and while our trip did not turn out as planned, all we could do is pray and hope for the best and make “lemonades out of lemons.” While Gavin remains in the PICU, Ferd and I take our occasional break from the hospital with friends or exploring the city of DC and parts of Maryland and Virginia which are all close by (a highly different and unique geography than what we are use to in California, but nonetheless beautiful). Eating out everyday, walking about in the city and taking the Metro and DC cabs can be quite an adventure and can add up. Anyhow, the sleep study went fine, but because Gavin was not completely asleep, the reading was not entirely accurate, but accurate enough to determine that Gavin would benefit from a BiPAP device as the readings show signs of obstructive sleep apnea. So moving forward, we had a meeting this afternoon with the ICU team to discuss next steps for medical transport which they feel will take place sometime this week. They feel that Gavin continues to do well and is able to bounce back quickly after an oxygen disaturation, but told us their next recommendation- Ferd and I’s jaws dropped. The ICU doctors feel that for pre-cautionary measures and for the safety of Gavin, it would be best for Gavin to be re-intubated (not that he needs to at present, but as an “in case” he may have an obstructive upper airway during the flight). Ferd and I were so torn because Gavin is finally back to his normal baseline; it would also mean Gavin would need to be sedated again. It was indeed a stressful moment. After making several phone calls for different opinions, doing a little research, and listening to our gut instinct, we spoke to the ICU attending physician and told him that we are leaning more towards Gavin flying without being intubated. I feel that our son is really stronger than he appears to be and we would feel comfortable with Gavin flying with a medical transport team consisting of an ICU doctor, transport nurse and respiratory technician along with oxygen and a BiPAP device if needed. It’s understandable that everyone wants to prepare for a worst case scenario for Gavin and no one wants to be liable in case anything bad were to happen, but we know our son and instinctively know he will make this flight without the need for re-intubation. We are going to have another big meeting on Tuesday afternoon with the ICU medical team, Pulmonary and the SD medical team via phone conference to finalize Gavin’s medical transport plans. I know some will frown upon our decision (and they all know it is a very very tough decision) but we are going to be firm with our decision (unless some drastic change were to occur) because after all, we want to do everything possible for Gavin to thrive through less invasive measures. Despite it all, making medical decisions for your child is never easy for a parent. We ask all of you to please continue to pray for Gavin and that his journey home be safe and sound without any need for intubation. The journey never gets easy, but God never leaves us through the journey. Hang in there my son, we should be home very soon.
Looks like we are still going to be here for another week. Gavin has been doing great as he is breathing on his own with no oxygen assistance, although he had several episodes of apnea. Despite the apnea, he is able to bounce back quickly to great o2 stats. We still have not gotten back the results from his EEG. On Thursday, we spoke to the pulmonologist of Children’s and the next option that was given to us to ensure Gavin would be safely transported would be to do a sleep study to measure his apnea episodes while he is asleep. The results would also determine if Gavin would need to be admitted to the PICU @ San Diego Children’s Hospital or SD Kaiser Medical Center that has no PICU upon arrival to San Diego. The sleep study will not happen until Saturday, which is later this evening and will take place for 8 to 10 hours. The results will not be ready until next Wednesday or Thursday, so yes we will be here for at least another week. The sleep study will also determine if Gavin will need a BiPAP mask, which is a method/ device for distributing positive pressure in the airways to help a person breathe more easily (only as needed) It is nothing invasive really. Ferd may possibly leave earlier to get back to work and luckily since I am on an educator’s schedule (summer vacation), I can stay with my angel as long as needed. Thank you very much again for checking up and for always praying for Gavin. More updates to come.
Gavin is still in the PICU. He continues to be on 2 L of oxygen and his heart rate is much better than it was earlier. Because he continues to have these episodes of apnea, the attending physician has ordered an EEG which started since Wednesday morning. For those of you who don’t know, an EEG records the electrical activity of your brain via electrodes that are affixed to your scalp. The results should be in on Thursday. Gavin will also undergo a sleep study while he is still here at Children’s to make sure that he does not have frequent apnea while asleep and desaturated oxygen levels at the same time. Yesterday around 6 pm, Dr. W (Gavin’s SD pulmonologist) came by to see him which was really nice and comforting. It was such a bonus for us to have Dr. W visit Gavin in the PICU so at least he is on the same page with the medical team in DC thus making the medical transition back to San Diego as smooth as possible. It’s been 2 weeks since Gavin has been in the PICU @ Children’s and nearly 3 weeks since we have left SD. Looking forward to coming home soon. Thank you for checking in. More updates to come.
Gavin is still in the PICU under close monitoring. He was down to 1 L of oxygen and then to room air (breathing on his own) and he was doing great, but a few hours later into the night, he had an episode of apnea and started to desaturate where his oxygen level went slightly low. Today he is back on 2 L of oxygen and is doing great. He is still agitated and sometimes looks very uncomfortable, but this morning as soon as the nurse removed one of his IV on his arm, I was able to hold him while I was sitting on a chair and what do you know, he was able to go to sleep peacefully which was very nice- the last time we saw him sleep like that was when he was intubated and sedated with morphine and versed. We are also very fortunate that his own San Diego Pulmonologist (Dr. W- who happens to be in DC tomorrow for a medical meeting) will be visiting Gavin tomorrow; he will possibly assist the medical team in decisions in terms of medical transport back to San Diego. The goal is for Gavin to fly back to San Diego by next week at the very latest, but of course this all depends on how he does in the next few days. Thank you for reading Gavin’s updates and for praying for his recovery. More updates to come. Praise God!!!
Gavin is doing much better compared to last week post extubation. His o2 stats are great with 2 L of oxygen assistance which is very little, but his seizure episodes have been more apparent and he continues to be very agitated. He is currently on methadone and Ativan to help with the withdrawal spells and to slowly wean off from sedation. It is very tough being in the PICU, let alone being far away from home, but the medical team here @ Children’s has been amazing. Last night, our good friends, Joan and Wela picked us up from the hospital to have dinner @ their home in Virginia which was indeed a great break from the hospital environment. Gavin still had a 1:1 nurse so we knew he would be fine as we stepped away for a little bit. We will find out more today as to how much longer we will be here. If Gavin will be medically transported, he will have to go straight to the hospital upon arriving back to San Diego until it is completely safe to discharge him and bring him home. Although, Gavin did not finish the TSD natural history study with the NIH which we had originally traveled here for, the NIH team has collected enough data for now and will use what they have. I’m sure this unexpected trip to the PICU will be of useful info for their studies and if Gavin’s condition is great, we may come back to the NIH in the fall or spring to continue the studies. For now, we just need to focus on getting home. Thank you so much for taking the time to read Gavin’s updates and following his progress. Thank you for all your prayers for Gavin and praise God for leading the way. I’ll be posting more updates later this afternoon. Take care and thank you again!!!
Gavin continues to show good progress post extubation. He is receiving very little assistance of oxygen and is doing a majority of the breathing on his own. His o2 stats look great, but his heart rate can go really high at times. He still continues to be very agitated due to weaning off from the sedation meds. To avoid bad withdrawal spells, he is on methadone and ativan as needed. Gavin will still remain in PICU until it is evident that his o2 stats are great consistently. We really don’t know when we will be home, but we hope it is very soon. Pleas continue to pray for Gavin. Gavin is a living testimony that God will listen to prayers and grant his will. Thank you-thank you so much for being here in spirit and for always praying for our dear sweet boy Gavin. You are keeping the hope alive!!
Prayers were surely answered!!! Praise God!!! Thank you everyone for praying for Gavin and for checking up on us. The extubation went well. The anesthesiologist did a great job and the rest of the medical team was very calm and alert. So far, Gavin is doing fine and his o2 stats are great. He is doing well breathing on his own, but he is very agitated as he is weaning off from his sedation meds. He is on precedex to help with the agitation. It is still a very critical situation so he still needs to remain in PICU to be closely monitored in case he desaturates, but so far he is fine and the likelihood of a tracheostomy is very very slim, but let’s hope and pray it does not ever get that far. The extubation was sooooooo nerve wrecking, but we are so relieved. God was indeed listening to everyone’s prayers. We cannot thank you all enough. This is such an extremely tough and agonizing situation for any parent to endure, but knowing we have God right by our side and all the prayers from wonderful people, we are able to make this through. Gavin-what a warrior. After all the poking and prodding, he still continues to fight. Please continue to pray for Gavin that everything will go well from here on out. Not sure how long we will be here in DC, but we hope to be home soon. More updates to come
The meeting with the NIH, Children’s Hospital and SD Kaiser medical team went well. It was a bit intimidating and emotional, but Ferd and I were prepared with all of our questions. On Friday, if the doctors feel Gavin is safe to be extubated, they will do this in the PICU and if all goes well (which we pray so hard will) and that Gavin’s O2 stats, breathing and heart rate remain stable, then we can all go home. Gavin will still have to be monitored for at least 3 to 5 days or until it is declared safe for him to travel. If Gavin begins to desaturate in his oxygen levels and begins to show signs of struggle breathing, then the next option would be a tracheostomy which was discussed that it could be temporary- if it was a side effect of the Botox, the good news is that it is temporary until the side effects wear out. If Gavin will undergo the tracheostomy surgery in DC, then we would have to stay here for another 3 weeks at the very earliest and be medically transported. I asked if he can just be intubated until the botox wears off, but that is highly risky because Gavin would have to continue to be heavily sedated and the Botox could wear off within 2 to 3 months at the very least and plus there is a high risk of developing an infection-definitely a bad option for Gavin. I also contacted Allergan, the makers of Botox, to see if there is a reversal remedy, but apparently there is none for this situation. So there, we don’t have many good options at this point, but to pray so hard that all will go well when Gavin is extubated and that a tracheostomy (even if temporary) is not necessary. Thank you all for praying very hard for our sweet boy. More updates to come.