Infusion!

Last week was a very busy one. Sebastian had his bone marrow extracted from his hips. He then had chemotherapy taken through an IV (called Busulfan). He reacted fine to the chemo drug but was a little out of it and easily agitated due to some anti-seizure meds (which is common). The dose was reduced a bit and all was well. The reason he is given chemo is so his immune system, now propped up by Adagen, will be compromised so the gene therapy administration does not have to compete against any naturally occurring immune system reactions to fight the vector (the virus that delivers the corrected gene). While this was going on, the talented scientists were taking his bone marrow, preparing the cells and incorporating the vector for injection. This was all orchestrated like clockwork. The staff of doctors, nurses, etc. have all been wonderful. They are an inspiration to me—there are many ill children around this part of the hospital and they are doing amazing work! I hope Sebastian will go into the medical field, it is the most noble of professions in my opinion.

On Friday at 4:30PM Sebastian received back the corrected gene. Dr. Aiuti said the cell counts, etc. were of good quantity and was optimistic. It was a day of excitement, relief and stress for us. We are excited and relieved that he has had his gene therapy treatment administered. Next, as I think I mentioned in an earlier post, is a thirty day waiting period in order to discern if the treatment is working. This is where the stress comes in. The mind tends to play scenario games in quiet hours thinking of all the variables that could go both right and wrong. Only time will tell.

The fireman drill: When Sebastian has to go pee (he has a potty seat in the box) we have to put on full surgical regalia (hair net, mask, robe and gloves) in order to lend a hand. This is not ideal by any means, but necessary. I joke to everyone it is like being called to go put out a fire the way a fireman must adorn all their protective gear and get on the truck—and if you are not quick there is going to be a big mess to clean. Our bodies, when functioning correctly, are truly amazing machines and this multi-step safety procedure reminds me every time I go into his area.

A few notes of thanks: Two of Lynette's co-workers gave Sebastian a few games for his PSP device. One of the games, after trying to appease him with several others, is a hit! It is a Lego meets Star Wars game in which there are miscellaneous tasks and one can run around in different "worlds". This bit of escapism has kept him entertained for hours when coloring, stories, etc. is of no interest. Thank you! Secondly, we met a Swiss family who has undergone the same procedure in Milano. The boy's grandma gave Sebastian a toffee that he took a liking to, she then gave him the rest of the box. Last week as we entered isolation a package came from them. Inside was a lovely note and beautiful drawing from their son, two boxes of toffees, and a guardian angel ornament. Thank you—Danke! Lastly, when Sebastian was undergoing his first bone marrow extraction procedure our Canadian friends gave Sebastian a cool soccer ball of the Milano team and brought us all some pastries. This was wonderful and much appreciated. We look forward to playing with the ball soon. No matter where you go there are great people in this world!

That's about it for now. Thank you all for your help in getting us here, as well as your thoughts and prayers. It is greatly appreciated. When Lynette and I are going through some of the lower points, we think of all the gestures of kindness.

Isolation Preparation

After another week of multiple tests, we are preparing to go into isolation tomorrow. We reviewed the rules that we must follow during this period and we visited the room we'll be staying in. Sebastian will be limited to a very small area inside of a bigger room. We can go in his area as long as we wear a gown and mask. Only one parent can be there at a time, so one of us will stay during the day and the other will stay at night. Our understanding is that the first week will be the toughest, with 3 days of chemo treatment and his bone marrow harvest on Monday. By Friday he will have the corrected gene re-infused, which is the big day we've been waiting for! 30 days following re-infusion, he'll have another bone marrow aspiration, which will give us the first indication if the gene therapy has worked. It's hard to imagine what the upcoming weeks have in store for us. We will just have to take each day as it comes and do our best to keep Sebastian entertained, and most importantly, to keep him healthy. Please understand if we do not update blog during this period of isolation.

Tests & Play

This week Sebastian has had many miscellaneous tests. We hope that the next family that has to go through the SCID-ADA roller coaster ride will benefit from some of the data points that he is able to contribute. Our little guy was able to have some fun play time with his Canadian buddy, and now that he has gone back home, he will surely be missed.

By next weekend Sebastian will be in what they call the "box" and now that he is no longer receiving Adagen shots we will need to be more cautious with him, e.g., having him wear a mask at the hospital, keeping him out of stores, no park play. I never thought that we would say we look forward to spending 40 days or so in "isolation", but I think we are as ready as we will ever be and look forward to getting past this upcoming step in a few weeks.

We are all adjusting well to our life in Italy and Sebastian hasn't shown any signs of feeling homesick. When we aren't at the hospital he enjoys playing with his legos and video game. He's even doing school work, which he'll get a break from in isolation.

Port Placement

Happy Mothers Day!

Sebastian's port has been surgically placed. It is a small device that sits on his right side in his upper chest. This device enables the medical staff to insert IV's, etc. for up to seven days. This will be beneficial for delivering the gene therapy as well as allowing easier, more predictable access to his major veins.

The procedure itself went well and the hospital followed up with an x-ray and determined that the placement was good. After the procedure, he had a rough afternoon and evening, because the anesthesia made him sick, but he was better by that night and was discharged the next day. A day later the port was flushed out with saline and Sebastian said that he felt less pain than with a traditional IV, especially when the needle was removed.

Aside from spending a couple of days in the hospital, we have been able to meet up with some of the other families that have successfully undergone gene therapy. Dr. Aiuti took a picture of three of the children together as we were chatting in the hall way. What a sense of accomplishment he must feel knowing that two of those children are walking around without the need of Adagen and are on their way to pursuing normal lives. We can only hope and pray at this point that Sebastian will be so lucky. I value the Doctor's abilities, as well as the rest of the staff, beyond words. We understand how lucky we are to be here.

The weather in Milano at this time of year is wonderful. It is really nice to see people (especially the children) out walking, riding bikes or gathering in their local squares. I love the sense of history of downtown Milano, the food and the people. Both Lynette and myself are learning more and more Italian every day. I enjoy the language and hope to teach Sebastian as well. It would be nice for my grandfather, who is no longer with us, to know that I will be able to speak the language and so will future generations. I hope to have a proper conversation with his sister (my Great Aunt) when I return home.

Next week Sebastian will have some more tests and will stop receiving his Adagen shots. We are all very excited at the possibility of this being his last dose.

Glad to be back in Italy

We arrived in Italy safely and have settled in nicely. We flew Lufthansa (great airline) from San Francisco to Frankfurt, Germany and then to Milano. Considering the length of the trip, it was uneventful, and Sebastian did extremely well. Most importantly, we all stayed healthy, which seems like a miracle given the number of people coughing on the planes. We are staying in the same village and same apartment complex as last year, but we're in a different building and apartment. Famed architect Mario Botta (designer of the SFMOMA) is building two beautiful office towers across the street from us and Sebastian is enjoying watching the workers and the cranes during the day. Although we have been studying Italian, everyone speaks very quickly and it's still difficult for us to understand. Even with the language barrier, it's been an easier transition, since we are now familiar with things here. It feels like our home away from home. With the 9 hour time difference, we all have some jet lag. It'll take about a week before our bodies are completely adjusted. Sebastian will go into the hospital tomorrow for his first procedure. He will have a central line surgically placed on Wednesday, which will be used in the future to access his central vein. This will stay in for 1 - 2 years. We'll spend two nights at the hospital, and depending on how he does, we'll come back to the apartment on Thursday or Friday. We're a bit nervous, but it will give us an idea of what to expect during his time in isolation when he has the gene therapy treatment. We will plan to post another update in a week and will let you know how the surgery went. As always, thanks for sending positive thoughts our way.