Finally an Update from Italy

Sebastian continues to do well clinically and has been off Peg-ADA since his therapy. He is taught by a teacher who comes to the house several times a week and is doing well in his lessons. Generally he is happy and really enjoys being outside and exercising on his bike and scooter.

After many long months of waiting for test results we finally have some word as to what is going on with Sebastian's immune system. We held off updating the blog until we received these results. It appears his immune system is slowly getting stronger and his t-cell counts are improving. Unfortunately, his numbers are not increasing as well as the younger patients in the study. We hope that in the coming months his "numbers" continue to increase. If they stay at the current levels we will have to entertain other options.

We thank you for keeping Sebastian in your thoughts.

Happy To Be Home

It's hard to believe that we've been home for 3 weeks now. We are all happy to be home and we are all adjusting (yet again) to our new routine. Sebastian did well on our flight home. He wore his mask the entire time, only lifting it up briefly when he needed to eat and drink. The flight was full and there were people coughing, so we are thrilled that Sebastian made it home safely and continues to do clinically well.

We were welcomed home to absolutely beautiful weather and got to enjoy a nice walk along the coast and walks and bike rides in our area. Sebastian's been re-connecting with all of his toys. It's like they are all new again. He's also been enjoying visits with his grandparents. He wants all of their attention and doesn't want them to visit with us. We can understand that.

He's already had 2 appointments at UCSF. It's great to see the doctors and nurses who have taken such good care of him over the years. He feels very comfortable there. His numbers are still low and he is still in a vulnerable place, which means we will continue to wait and hope for those numbers to go up. And, of course we'll continue to be germaphobes!

He was so excited to be home for Halloween and he got to go to a few houses for trick-or-treating. At one house, someone was dressed up like a gorilla and Sebastian thought that was the greatest thing. He just laughed and laughed and asked if it was a real gorilla and if he could go back to that house. We're happy that he was able to enjoy himself.

We miss the people we got to know in Italy and hearing their beautiful language. We've found some music videos on YouTube of Italian music that we listened to while we were there, which is something special for us to share together. We also tune in over the internet to listen to Italian radio on the weekends. We will always hold a special place in our hearts for each and every one of the people who took care of Sebastian while we were there.

Returning Home

We are returning home this week! Ideally, Dr. Aiuti would like us to stay for another 3 months to monitor Sebastian, as the next 3 months are a crucial time; however, we want to get on a plane before flu season gets underway and Lynette's leave of absence is over. The decision to come home was not an easy one to make. We weighed all of the pros and cons and feel that going home now would be best for us. His medications and the use of a mask will help protect him.

After meeting with Dr. Aiuti and getting an assessment of Sebastian's health, it seems things are headed in the right direction; more time is necessary to see if T-cell production will get to better levels in the coming months. Sebastian will continue to be monitored at UCSF, and they will work closely with Dr. Aiuti. We are lucky to have a great team of doctors and nurses at home too.

It's exciting to know that we will be home in a couple of days, although we know that we'll go through a period of culture shock, and it'll take a little time to adjust, as we've experienced from past travels. With Sebastian's situation, we have learned to be cautious and take every care to protect his health. Upon our return, we will need to be even more careful than we've had to be in the past, while we wait for his immune system to improve. He will not be able to attend school or have much interaction with other people. We are in contact with his school and a teacher will be coming to our house to provide Sebastian with his 1st grade education.

Thanks to all for your help, positive thoughts and interest in Sebastian. We would also like to thank Dr. Aiuti and all the scientists, doctors and nurses who have worked hard to help Sebastian. We look forward to being back in touch with family, friends and co-workers soon. Lynette works for Williams-Sonoma and we would like to extend a special thanks to the company and all of the great people there who have been extremely supportive over the years.

No New News

We wish we had some exciting news to report, but not much has changed since our last update. Sebastian had his 90-day post transplant bone marrow aspiration on Sept. 10. He was put to sleep for about 20 minutes, and as usual he was upset when he woke up. Luckily, he didn't get sick and he recovered quickly. Within an hour after he awoke, we were able to leave the hospital. We were glad that he didn't experience any pain, which was evident by his running and jumping all the way to the car. We should learn the results of that test in another week.

His numbers went up a little, but then they went back down again. They'll take blood again next week—we hope that his numbers will be back up. With his numbers so low, we are staying in the apartment a lot more. We take walks now and then, but not as often as before. Plus the weather is changing, and it's getting quite a bit cooler. After being in the "box", it's not so bad having to stay in the apartment. At least Sebastian moves around (a lot). His new thing is skipping, so he skips around between the 2 rooms—our poor downstairs neighbor!

Parents always think their kids say funny things, and we're no different. As this relates to the picture we're posting, I thought I'd share something we found comical. When I asked Sebastian to get dressed so we could take a picture for the blog, he insisted on wearing his Italian soccer jersey, because he said, "I want to look like a perfect Italian man."

We will update the blog again once we have all the results of the marrow test and a clue as to what the next steps will be and when we might be able to go back home.

Turbulence

We know that this treatment is experimental, and we know from our Canadian friends, who went through this last year, that it can be a very scary ride. Knowing this and actually experiencing it are two very different things. For a period of 3 weeks, Sebastian's numbers were going up, and then to our surprise they went down. Not just a little bit down, but significantly down. His neutrophils went from 1,800 one week down to 500 the following week. We were not just surprised by this; we were shocked. Dr. Aiuti told us there could be fluctuation, because Sebastian's bone marrow has been traumatized, but since his numbers had been continually increasing, we just hoped they would keep going up.

For the past week his neutrophils have been stable at 600. Still low, but the doctors have assured us that they are not worried. We've maintained our position that if the doctors aren't worried, we won't be worried either (easier said than done—but we are trying). We are thankful that Sebastian has been able to stay at the apartment, and has not had to go back into the hospital. As a precaution, he has started a new antibiotic and does need to wear his mask outside again.

Always trying to look on the bright side - Sebastian's skin reactions have all cleared up, he continues to do clinically well, and he has a ton of energy. There's a park near the hospital that we've gone to a couple of times now, and he'll walk there for an hour. There's a river, a lot of trees, grassy areas, and many walking paths to explore. It's a beautiful, peaceful place.

Above is a piece of art made by arranging Sebastian's hands. Throughout Sebastian's life his hands and feet have been sporadically used to make art pieces. This one was made last week after noticing how much his hands have grown since we have been here.

Healthy Progress

August is the time of year that most Italians take their vacations, and a good percentage head toward the sea or lakes where it is cooler. Many of the shops in town close for the entire month. The supermarkets are still open and there are still people about, but the change is definitely noticeable. Even the hotel near the hospital, where we go to update the blog, is closed. Unimaginable for our North American brains—but very cool.

Last week we had to move to a different apartment. We actually moved back into the same apartment that we stayed in last year. It took us a couple of days to get situated here, but we are settled in now. The two apartments are basically the same, but one good thing about this one is that there are screens on the windows, so we can get some fresh air without worrying about mosquitos. The view faces another direction and Sebastian does miss watching the construction of the building across the street, but he can still see it when we go outside for a walk.

His numbers are continuing to go up, with the exception of his lymphocytes, which we know will take a long time to increase. We are very happy with how well he is responding to the gene therapy treatment up to this point. The lesions that he had in the hospital have more or less disappeared, however, we believe that he was bit by some sort of insect (maybe a spider) and he had another reaction on his face. The doctors gave us some cream to put on, and it seems to be helping. We still don't take him to parks or into stores, but he no longer needs to wear a mask when we go out, except when we go to the hospital.

In the picture, Sebastian is holding an Italian flag that he made out of Lego's. He's standing in front of one of the windows in our apartment. All of the windows have outside window coverings that can be raised up completely, closed partially to let some light through (as shown in the picture) or closed completely to block out all light. It seems that every home has these window coverings, or some version of window coverings. We think they are for temperature control, privacy, and safety. We prefer to keep them open during the day, so that we can look outside and get some natural light, however, most of our neighbors keep them closed the majority of the time.

Sebastian is enjoying doing his school workbooks. Lately, after we wake up, he has a few lessons prepared for us. These are similar to what he has learned in the previous few days. He says, "I have a game for you to play." Then he gets out a pen for each of us and tells us what we need to do and how it should be done. He often changes the rules of the "game" mid-way and makes sure to correct us all the time. Basically, this is his opportunity to tell us what to do and to be the boss. We think it's really cute. With all the rules Sebastian has had to live by we believe this is very healthy for him. On that note, when we go out for a walk he always says, "Can we go where I want to go?" Of course.

Sebastian's Typical Day

Sebastian's doing well and enjoying his time outside of the hospital. He usually wakes early and entertains himself by drawing or coloring. He'll even work on the "fun" pages of his workbooks, like dot-to-dots or mazes. After breakfast he gets to play or watch a movie until lunch. We usually spend about 2 hours on school workbooks and then he can play until dinner. He didn't get to play much with Lego's while he was in the hospital, because it was difficult to keep them clean, but he is making up for lost time and using his imagination to build a lot of different things. He's very creative and visual (like his Dad). Except when we go to the hospital, he rarely plays his video game.

It's hot and humid during the day, so we usually wait until after dinner to take a walk. Sebastian wears a mask whenever he goes outside. He seems to be comfortable wearing his mask and never complains or questions having to wear it. This past week, during one of our walks, we ran into a family from Brazil whose son is also in the study. We met them once last year and it was nice to see them again. Their son is a real cutie. He underwent gene therapy already and they will be heading back home at the end of next week. We wish them the best. After our walk, Sebastian has his shower and then we watch a funny Italian show. It's called La Botola (The Trapdoor) and people do some kind of performance (sing, dance, juggle, etc.) and the audience votes on the best performer. The losers fall through a trapdoor that lands them in a pool. We all get a good laugh from it.

He's still thin, but he'll gain his weight back now that he's eating much better. When we're out for our walks, he runs ahead and isn't having any pain in his legs. I'm surprised that he's bounced back so quickly, especially since we could barely get him to eat or get out of the bed while he was in the hospital. Another nice surprise, after being waited on hand and foot for 53 days, is his enthusiasm in learning to be more independent. Without being asked, he's putting his dirty clothes in his laundry bag, clearing his dishes, and even trying to make his bed. We are proud of him, and even more importantly, he's proud of himself.

Sebastian has to go to the hospital once a week for blood work and a clinical visit. His lesions are practically gone - his ears are taking the longest to heal. We were told that his immune system numbers will go up and down for a period of time, which has been the case. His neutraphil counts were down to 800 two weeks ago and were back up to 1,000 last week. For protection, he takes daily prophylactic medications and has IVIG every 3 weeks (the antibody infusion that he's had to have all of his life). He will continue with these precautions for some time, however, I am thrilled (as is Sebastian) that he no longer needs his Adagen shots. Those were the shots that gave him the ADA gene that he was missing. For 6 years I've given him shots twice a week and it's hard to believe that his body is now producing this on its own!

We will plan to update the blog every two weeks, since there's not much to report on a weekly basis. Our hope is that things will continue to go in the positive direction that they are going now and that we won't have any unexpected surprises ahead. Thanks for keeping Sebastian in your thoughts and prayers and please check back in a couple of weeks.