Week Two - GM1 Clinical Trial Passage Bio Gene Therapy

 

Got some cute books and puzzle for more entertainment at the hotel.

3/22 Monday

Long Day

Eye Exam - Dr. Barry Wassarman, the opthalmologist - did Lucas' eye exams - He said - he follows well with both eyes, no objection to occlusion, movements are fluid and flowing. Corneas look clear, no clouding and no cataract. Saw no strabismus - after diluting the eyes, everything still looked great. I then asked him about the Gene Therapy and if the delivery method via the intracisterna magna would be a good avenue to reach the eye area and prevent strabismus which his brothers had by 2 years of age. He told me he didn't know for sure, but he said that it should be able to affect the eyes since the center of the area that controls eye movements is near the cisterna magna. It's connected. 

Cardiology - Electrocardiogram - She attached a bunch of stickers to his chest and stomach and then attached little clips connected to chords onto the stickers.He had to sit pretty still for it to work, so I fed him snacks and he did great!

Next was the Echocardiogram which is an ultrasound of the heart. He was in my lap relaxing and I kept feeding him the Larabar and he did so good, until the last 10 minutes. It was probably a total of 30 minutes? Long time for him to sit still! He was fussing and I had to wrestle him a little to cooperate. Dr. Cohen looked at the tests and told us that everything looks great and normal. 

After that we were both very tired. I hadn't eaten more than a few bites of food that day and was just physically drained. We got back to the hotel around 1:30pm. It was a very nice break, Lucas went right to sleep, I ate my lunch and we were much more refreshed when we came back 2 hours later.

Audiology - Lucas was very cooperative for his hearing tests. The girls occupied him with a cute fishie toy (the fish rotate around the circle, opening/shutting mouths) They commented about how good his fine motor skills were with pulling out the little fish, putting them back in and sticking his finger in their open mouths. He played while they stuck the little earplugs in his ears for the tests and aced all tests and had no fluid in his ears. They then did the part where they sit on the other side of the booth and talk into the speakers and then light up the wiggly toy every time he looks in the right direction. He did pretty good with this test as well.

Checking in and EEG - Daniela (Study Coordinator Nurse) came to pick us up and brought us over to the pediatric inpatient unit to be checked in overnight. Multiple doctors and nurses stopped by to speak with us. And the EEG technicians came to attach the electrodes all over his head. He had to be lying down for this so I knew it would be hard. She got a rolled up towel for him to lay down on and I got my phone ready to play The Wiggles. The Wiggles literally saved us, because without it, it would have been even worse. Lucas was ok as long as I was gently holding him down with one hand and holding my phone with the other so he could watch The Wiggles. But every time she had to glue.. he became really upset. I don't know if it was how stinky the glue was, coldness, the sensation of the blow dryer or what, but he fought that part. Then he would calm down, lay nicely and watch the show until she got to the glue again. She wrapped his head nicely and it mostly stayed the rest of the time. :)

Placing IV - Then at 9pm - by this time Lucas is very tired, yet high strung - the nurses came in to take some blood and place his IV. This required three of us holding him down again and he was not happy about that. They did a cool thing though to find the vein. They turned all the lights off and placed a flashlight pointing through his skin from under his wrist so they could see the dark lines of his veins through the skin.

Camera monitoring - Because he was having a filmed EEG with a camera that followed Lucas' face around all night, we had to leave at least one light on all night so they could see his face and I had to try not to obstruct the view of the camera. This bright light made it more difficult for Lucas to relax and fall asleep. He was too crazy to be in the crib, he would stand up and fall over, bonking his head on the side. So I had him in bed with me. He finally fell asleep at 10:30pm.

Shortly after the placement of the electrodes for the EEG - Looking cute

Finally fell sleep at 10:30!! Very long day for him. He usually goes to sleep at 7pm. I had to put him in my bed, since he wasn't safe falling asleep in the crib.

3/23 Tuesday

Sedation - MRI, Nerve Conduction and ABR -

Patience - Lucas awoke early - 3:30am and I was able to feed him one more time before the fasting period before MRI. The nurses came back in at this point to do vitals and we tried to go back to sleep, but he didn't get much sleep after this. He was restless. Later that morning, I couldn't really let him walk around because he was hooked up to EEG and IV. Those morning hours required a lot of patience and creativity on my part. I did manage to distract him long enough to get dressed and ready for the day by putting him in his stroller with a show on my phone. Right before it was time to go to MRI, he got the electrodes taken off. He fought this pretty hard, so he was exhausted and ready for his sedation when the time came.

Right after they took the electrodes off before MRI - crazy hair!

Sedation 9:30am We arrived at MRI and they let me travel back with him to the machine until he became sedated. They didn't do general anesthesia for this, so no breathing tube. (I was happy about that) After about 40 minutes, he was done and I walked with them as they wheeled him to the next location, up to the area where they would do the nerve conduction test (Dr. Surgan) and then the ABR hearing test (And I believe her name was Dr. Buckley).

This is after the MRI, Nerve Test and ABR is over and he is slowly waking up.

Dr. Victoria Surgan - Neurodevelopmental Disabilities

Trial requirements say patient should not be sedated longer than 3 hours, but to avoid having to be sedated multiple times they try to group things that require stillness. So it was a tight squeeze to get MRI, Nerve Conduction Test and ABR hearing test all done under the three hours. They did it though...6 minutes under the 3 hours. 

Great Findings - Later, the Neurologist, Dr. Lastra, told us that the MRI showed no damage from GM1, that everything looked great. He said the nerve conduction test showed normal nerve speed for his age and the ABR was fine. I asked if they saw any delayed myelination of the brain? They said No and I told them I was surprised since the other boys showed Neurologic issues by 2 years old specifically delayed myelination and later Eli showed brain atrophy. We were all excited and amazed that he is starting from such a great place. Dr. Lastra again emphasized that we can’t repair previous damage in the brain so this is amazing that there isn’t any damage that we can see!

We got home pretty exhausted around 5pm, we relaxed and went to bed early!

3/24 Wednesday

Recovery - We both slept in and relaxed and didn't do much except we did do curbside grocery pickup. That was a trick getting all of it up to the hotel room! I am keeping Lucas very secluded to keep him healthy right now, so no going into any stores or public places.

3/25 Thursday

Developmental Assessments Part 1 - There was a thorough amount of developmental assessments that needed to be done. The nice thing about telehealth - is I could do the parent questionnaire over the computer with the Doctor from the hotel while Lucas was having his morning nap. This took over an hour, so that was great. Just answered a lot of questions about his cognitive, social, physical development and milestones. Later, we came back to St. Peter’s to do Lucas’ part in the assessment. He cooperated very well, playing with toys, looking at large motor skills and cognitive functions. There are books, drawers and shelves all around that conference room at his level, so it is not ideal for him. We had to redirect him many times away from those things, but he did well. We got more than half way through the assessment when he began to get tired, so we set a time to meet again the next day and finish.
One requirement of the screening process was that there be 48 hours between MRI and all the other tests and the developmental tests, so that he would be fresh and at his best. The was an important requirement. They also set aside multiple days to get it done, in case he couldn’t do it all in one day. Smart!

3/26 Friday

Developmental Assessments Part 2 - For the second half of the testing, the Doctor was more prepared this time. The conference table and chairs were moved over to one side to create more room, blocking a lot of the drawers and shelves, and everything was set up & ready to go. I got a little more involved this time to help him accomplish some of the tasks and goals. He wouldn’t say any consonants the entire time, just yah yah yah and cooing sounds, until finally he said Da and Ta sounds. It took a while! Today (Saturday) I gave him a bottle with water in it and said “Bah bah, Bottle” and he said “Ba ba”, just one day too late! Ha ha. 

A few of the things he really liked during the test were a rattle, a speech book with live images/pictures (he kept sitting in my lap to have me read it to him), putting blocks in and out of a bag. One thing he did well was stack two blocks on top of each other. That was good. 

Most days I try to take him for walks outside or go over to this pretty river walk area. He enjoys getting outside!

River Walk only a 5 minute drive from the hotel

He loves to find cool sticks, pinecones and rocks!

Basketball court at the hotel

Week One - Lucas Clinical Trial Update

The day the Passage Bio clinical trial opened (began recruitment) back in January, we submitted Lucas' name. We didn't hear much for a little while until mid to late February when I was asked to provide a release of records to St. Peter's Hospital in New Brunswick, New Jersey, which was the first site open and ready to go. (There will eventually be multiple sites around the world that will run the Passage Bio Trial)

Invitation March 5 - Got a call from Dr. Day-Salvatore to inform me that she had selected Lucas to be officially assessed as possibly the first candidate for the Passage Bio - PBGM01 clinical trial for Gene Therapy.  Said we would hopefully - likely - come out to New Jersey by the end of the month. 

Plan March 8 - Signed travel consent paperwork and when speaking with the clinical research nurse, Daniela, she asked me if we planned to come next week. That seemed sudden, but then I realized that spring break was the following week and that actually might work best for our family. 

Preparation March 9-11 - Got everything ready to be gone for 6 1/2 weeks - instructions for my children, letting everybody know, packing, travel arrangements with Clincierge and figuring out who should go etc. Brad decided to come with me for the first week while our respite providers were off of work because of spring break (their day jobs are with the school district). So they graciously got all set up to stay with Evan and Laya on a rotational basis for the week. 

Travel March 12-13 Travel from Tucson to Phoenix and then New Jersey - Lucas had a nap on the plane and was remarkably much better than we anticipated. Got our rental car and drove to our hotel in New Brunswick, NJ. The hotel room has two bedrooms and a kitchen which is super nice for us. 

Covid Testing 3/15 All three of us got tested for Covid 19 - we were all clear to go. Lucas didn't enjoy the nasal test at all, but he did well with the blood test (to see if we had Covid anti-bodies from previous exposure).  

3/16 - Had to wait a day for Covid results

Consents 3/17 - Officially Day -14. The screening process leading up to the gene therapy day is set to happen over two weeks or 14 days. Day 1 will be the procedure day. All the tests are to get a baseline for Lucas' overall health and to make sure there is nothing that would prevent him from moving forward with the trial. He is healthy, so we don't anticipate any problems. We went over all the consent forms and description of the clinical trial in detail with Dr. Debra-Lynn Day Salvatore. She will be Lucas' doctor who is taking point on everything regarding this trial over the next 5 years. She is a wealth of knowledge and experience...such an expert. We are in good hands. We signed all the forms. Lucas was a bit of a handful during this meeting and actually we only did about half of it before going back to the hotel for a nap and then coming back later that day to finish the rest of it. 

Dr. Debra-Lynn Day-Salvatore - Director of Genetics and Genomic Medicine at St. Peter's University Hospital

3/18 Day -13 

Labs/Blood Work Morning started with Labs and Urinalysis for Lucas - they are checking his overall health and enzyme levels of beta galactosidase activity. 

Neurology We then saw Dr. Carlos Lastra - he asked us a general history of health and milestones for him and then did an examination. He was very good with Lucas and able to do an overall physical checkup. He summarized his findings by telling us that he didn't see any Neurological decline or issues at this point which is important to keep in mind as his baseline, to refer back to over the course of the study. It will be interesting to see if the MRI shows any delayed myelination of the white matter of the brain at his age. Eli and Evan showed delayed myelination at age 2. 

Dr. Carlos Lastra - Director Division of Pediatric Neurology at St. Peter's University Hospital

We came back to the hotel for nap time. All three of us had had pretty rocky sleep the past week, so we were all grateful to have a much needed nap and were ready to come back to St. Peter's later that afternoon.

Genetics Physical/History Dr. Day-Salvatore then did a physical evaluation of Lucas as well. Lucas was again, very cooperative. He seems to like the hands on connection and just stares at what they are doing with curiosity. She then did a thorough, yet general questioning to me about his health history. She asked me a lot of questions about any symptoms or issues he could have possibly had. 

3/19 Day -12

Abdominal Ultrasound Began the day with an abdominal ultrasound - looking at and measuring the liver, spleen, kidneys etc. At first, Lucas was amazing, he laid flat on his back and allowed the lady to use the ultrasound handle and gel on his stomach, just looking around, but once it stretched out to 10 minutes or so, he was done cooperating. Luckily the lady was nice and said he could stand up, sit or be in whatever position and she would just try to finish. Once we stopped trying to hold him down, he did better, but fought through the last few minutes. It's really not a big deal though, I mean, he usually fusses when I change his diaper 5 times a day! That's just being a toddler! 

Spinal X-Ray Then we headed over to X-ray for a look at his spine - this went very quickly and surprisingly well with three people helping to hold him still. We got the image they wanted (a side few of straight spine) on the first shot!

Family Tree/Video Capture/Seizure Journal Later that day, we did a family tree with one of the geneticists who is an expert in Lysosomal Storage Disorders, I received training on the video capture program I'll be doing with Lucas every 3 months and the seizure journal I will need to keep on a daily basis. 

3/20 Day -11

Brad headed home to go be with Laya and Evan and relieve Jasmine and Christina - who have been caring for them. Thank you Jasmine and Christina, you are life savers! 

I know Brad wishes he could stay and be here with us. We will miss him. It was so great having him for the first week, Lucas loved it!! But of course he needs to work and be home for the other kids. Brad's Mom is coming to Tucson tomorrow to help for the remainder of the time I am away. She is an angel!

I miss Laya and Evan so much already, but we are here for Lucas. This treatment could be great for him...it's possible, so why not give it a shot. We are very lucky to have this opportunity. Even if it doesn't benefit him, it will for sure help other children with GM1. Nevertheless, we are hoping it will make his life better!

I'll continue to keep you posted on how everything goes.