Sigh… Further Delays

I’ve stared at this blank page several times, trying to figure out how to write this post and put a positive spin on it. I just have not yet found the positive in it. Bottom line: Gene Therapy for Ray is delayed further. The doctors/researchers have tested and retested the current batch of vectors and do not feel confident in using them. As one of the doctors put it, “I asked myself would I go forward if this were my own child and the answer is no.”

This is all part of the risk involved in a clinical trial. Everyone is learning how to produce the best scenario and determine when a trial should go forward or wait. If the doctors don’t have faith that the vector will produce the results we want, then they are right. We should wait. It’s just really hard to hear that when you’ve been hoping for it all to happen in order to change what’s been not just a stagnant scenario but one where we’ve seen Ray’s health become more tenuous.

Going back several years:

Ray battled with recurrent GI bleeds until December of 2013 when it became obvious there was something seriously wrong that had to be located and repaired. In January of 2014 the doctors at Fairfax Hospital located and removed an Arteriovenous malformation in his GI tract which was rupturing and causing significant blood loss. We knew after such a complicated surgery it would take time for him to heal and regain strength. We also knew that losing a section of his small intestine to the surgery would make digestion of food somewhat more difficult, but that didn’t seem insurmountable.

He seemed to be doing better and was back in school for part of 2015. In August of 2015 we visited NIH and briefly discussed the possibility of Gene Therapy. The research nurse gave us all the paperwork to review to enroll in the study. Within a week of being at NIH, Ray developed fevers which lasted for several days and when they got worse he was admitted once again to Fairfax Hospital. During this time his white count plummeted and he became very sick. He had to be placed in their Pediatric ICU and was on a vent. He fought his way back from this event as well and by the beginning of October was released back home.

He was much weaker this time and we knew it would take time to for him to build back up, so Gene Therapy wasn’t at the top of the list for us at that time. Physical Therapy and improved nutrition were the goals. Ray went to physical therapy and was building up strength, but it went very slowly over the next several months and he kept having trouble with his nutrition. We were just never able to build it back up to the calories per day that he really needed.

We saw the NIH doctors again in July of 2016 and began a more serious discussion on Gene Therapy. At some point in time NIH had tested Ray for Norovirus and he’d come back positive. Apparently, this is quite common among the SCID patients who do not have good functioning t-cells. The feeling among the docs was that he’d likely been positive for Norovirus for a long time, possibly years. However, this could explain why we were not able to improve his nutritional intake and gain any ground. The next month, August, Ray’s nutritional status once again deteriorated significantly. After some discussion we decided to admit him to NIH for failure to thrive, where they could get a handle on it in order to begin the process for Gene Therapy.

When Ray came home after that admission he was on TPN, IV nutrition, 4 nights out of every week. It was hoped that it would be a short term nutritional boost while we worked to increase his enteral feeds through his feeding pump and prepared for gene therapy. Initially, it looked like there would be enough of the older batch of vectors for Ray to enter the trial before the end of 2016, but when everything was calculated it was determined that he would have to wait for the next batch.

So we waited, first expecting a January start, then it was moved to a June start, then July as the testing on the vector continued due to questionable results. However, there is just no longer any confidence in this batch. Ray has to wait for the next one and meanwhile we hope that one will perform better.

What does this mean in time? It means it’ll likely be November before Gene Therapy can happen. The next batch of vectors should be ready for testing in late June, but the testing itself takes months and includes a number of purity studies for the FDA.

All this waiting has been hard on Ray and on us. Having him so dependant on TPN is very stressful. First and foremost is concern that his port keep working. Ray’s running out of veins usable for a central line. I’m fanatical in the protocol for keeping it working properly, but it feels like walking a tight rope without a net. His TPN runs overnight, but if the pump beeps Ray cannot hear it as he is hearing impaired, so I have to sleep with a baby monitor by my head in case there is a line occlusion or other problem during the night. Needless to say, this does not provide the best night’s sleep. I’m constantly jumping awake hearing something, or thinking I’m hearing something, during the night. Ray feels like he cannot do very much with his port (which is in his leg) accessed so much of the time, and consequently he sits around the house, usually in his room watching TV and playing virtual games on his computer with people he’s never met.

His lack of normal activity doesn’t help to build his strength either. We’d like him to be in physical therapy again. He’s been refusing to go, and when he finally decided he would go, he ended up first cutting his leg which created a wound that had to heal and then hitting his leg which created a large hematoma that turned into another wound which had to heal. It’s just been one thing after another.

I keep trying to find ways to improve his enteral intake and nutritional status so he doesn’t have to rely on so much IV support. I’ve always been the one to take care of everything for Ray, and he expects it. I’ve tried to encourage him to take on some of his own care, but he’s very resistant. I can’t even get him to hook up his own TPN when his port is already accessed. I’m sure it’s a scary thought for him though. I’m not sure where to look for additional resources for him that can give me a break, and I’m open to learning of any that’ll take some of the pressure off of me.