Information

I have been meaning to publish a new article the past week but for different reasons I have been unable to. The Internet had been down for several days which kept me from writing initially. Secondly, I have been busy with the arrival of my parents here in Italy. With so much happening lately I thought it would be easiest to write large article with subtitles to keep it organised. That said, I shall begin with the first and probably most important topic, what is going on with Parker and gene therapy.

The Meeting
On Friday we had a meeting with Dr. Aiuti along with the doctor overseeing him. Several tests had been conducted earlier in the week including tests to check his blood for the different types of cells, the amount of toxic metabolites in his blood along with the another bone marrow aspiration.

Parker's most recent blood tests have shown extremely low levels of engrafted white blood cells compared to the amount he had when he was first transplanted. In addition, his toxic metabolites were extremely high, most likely due to his particular mutation. That said, his metabolites did decreases significantly one week ago. The most recent test showed that although they did decrease slightly again it was not dearly as dramatic as previously and Parker still has more metabolites than any other patient at this point in the study.

We spent the days prior to the meeting quite worried that Parker's bone marrow aspiration was going to show something very similar to what was present in his peripheral blood. Parker did not have very many engrafted cells left at all. Why did we think this? Pretty much because everyone thought this was a very good possibility. We heard during the meeting on Friday that they were positively surprised that this was not the case. After seeing Parker's actual numbers my wife and I were happy to see that they had actually increased slightly. One type of the cell had actually increased dramatically. At this time we also found out that although Parker did not lose his engraftment, he is at the lower level of engrafted cells compared to most patients in the study. That said, they do believe that Parker can be cured with the low number of engrafted cells if they do increase in number over the next months.

Remember that the blood cells are produced in the bone marrow so if there are no cells at the source to produce blood cells then there will never be any cells in the peripheral blood. So, that means there must be something that is causing the cells to not be present in the blood. Tests revealed that Parker has anti-bodies to neutrophils and as a result he is attacking the neutrophils (all of them – ones containing the ADA gene and ones that do not) and as a result he does not have nearly as many ADA producing neutrophils as most people.

In hopes to remove the antibodies Parker will undergo a high level dosage of IVIG (gamma globulins). They do not believe that Parker has a lot of antibodies since his neutrophils count is still relatively good (> 1000). They will test this week to confirm that there are no other antibodies in Parkers blood getting in the way of the cells in Parker's blood.

They also feel that is necessary to help Parker remove some of the toxic metabolites so they do not cause any damage to his organs in the long term. They will do this by giving him a red blood cell transfusion. This will allow the metabolites to decrease at a steady rate in his blood as the transfused cells contain working ADA genes.

Of course this is not exactly what we had hoped when we came to Italy but it is pretty much the best news we could have gotten from the meeting. Although it is not guaranteed that the gene therapy will still work they are still optimistic. Parker will have another bone marrow aspiration in one month to see what is happening to his engrafted cells.

What are he hoping for now? That Parker has no other antibodies present. That the IVIG does its job and is sufficient at killing the antibodies. That after this, Parker begins to produce significant numbers of neutrophils and that he can keep his toxic metabolites under control. And finally, that the bone marrow aspiration he will have in a month will show an even higher number of engrafted cells compared to this week.

We have always said that Italy was the place we needed to come to find Parker a cure for his disease. We continue to believe this. We have a very special team of doctors here and we trust them to do what they feel needs to be done so that our dream will become reality. Dr. Aiuti has put an enormous amount of time and effort into helping our son and we are extremely appreciative of him.

Parker's Face
That last time that I wrote about Parker's face we were under the impression that they were caused by mosquito bites that had become infected. The result was for Parker to begin Augmentine in hopes to help fight the infection and remove the blemishes from his face.

Unfortunately, after the next few days we did not see any improvement in his face. The red circles actually got bigger and brighter. As a result, we took Parker to the dermatologist on Monday morning. He felt that there was a good possibility that it was caused my a reaction to one of his medicines.

Over a week and a half ago I had thought that may had been the case but never mentioned it to anyone. See, Parker started his blood pressure medication (Norvasc) at relatively the same time he go the little red dots on his face. As the days passed and Parker took more Norvasc at an increased dosage the red circles increased in colour and diameter.

On Monday, they decided for Parker to stop taking Norvasc and to begin a different blood pressure medication, Triatec. Tuesday was the first day he did not take Norvasc and now, after some peeling the redness is starting to go away and the size of the circles are starting to decrease.

We were told that if this is a reaction to Norvasc that there should not be any scarring and it should take a good two weeks for the redness to go away.

Nonna and Nonno
I have to say that the best part of this week has been having my parents here to help us deal with all of the stress surrounding us.

My parents arrived in Milan on Wednesday evening at the Milan Central Train Station. They flew into Rome originally and after a five our train ride I met up with them at Milan Central.

Nonna and Nonno have been a burst of energy for the three of us. To be honest, Parker did not see them too much prior to Milan but he has not stopped laughing for four days.

Of course, everyone goes for there daily walks around Milano Due and no one seems to love it more than Parker and his Nonna. My wife and I do as much as we can, all the time but 18 months of taking every possible precaution has drained us of most of our energy. Yes, we always took Parker out for his daily long walks but Nonna has now added two more walks for Parker. One when she gets up in the morning and another one which she drags Nonno for after dinner. Parker absolutely loves it.

There is so much that I want to write about in this section but to be honest I will just say this. I have never felt so happy to have my parents with me. I did not expect them to come to Italy to help us but I am so glad that they did.