Cassià and Nico
A SCIENCE FICTION STORY?
In 1976 John Travolta starred in a television film (The boy in the plastic bubble) which told the story of a boy who had an immune system that didn't work correctly; popularly known as ‘bubble boy'.
The boy who inspired the film was called David Vetter and he was born with SCID, a rare genetic disease. It was the beginning of the 70's and in order to avoid David dying in a question of months or years, his parents made a difficult decision and brought him up in a sterile atmosphere. Doctors and investigators together created a special house for him: an enormous plastic bubble which would keep him isolated from the exterior. David lived in these conditions for 12 years.
Image of David Vetter
This story seems like science fiction but it is real and today in Barcelona there are two young children, Cassià and Nico, who suffer from the same illness. They are recovering from a bone marrow transplant which was the only hope for a cure for both of them.
We wanted to know firsthand what the phrase ‘bubble children' means and above all, why it requires a bone marrow transplant just like in cases of leukaemia and other blood diseases. For this reason, we went to Sant Pau Hospital in Barcelona.
Severe combined immune deficiency is a very rare genetic illness caused by the mutation of a gene which causes the irregular production of a specific type of lymphocyte.
At six months old, Cassià went into Sant Pau Hospital in Barcelona, with what appeared to be very severe meningitis. It turned out to be something even more complicated: ‘severe combined immune deficiency'. A short time later, Nico, another baby of the same age, was admitted with pneumonia or possible swine flu. The diagnosis was the same as Cassià's.
Cassià, when he was one year old
Nico, when he was 1 year old
Cassià and Nico in the isolated ward
Doctor Isabel Badell, head of the paediatric haematology unit at Sant Pau Hospital in Barcelona, explained that "it is an extremely rare illness (affecting 1 in 500,000 children) and it is even rarer for two babies with this illness to coincide in the same hospital at the same time".
After such a long time in the hospital, the mothers of Cassià and Nico, are almost experts on the subject. Silvia and Noelia explain to us that the carriers of the genetic mutation are women but that it is men who develop the illness. We are shocked. "So, if you had had girls you wouldn't have known anything about all this?" we ask. "Exactly," they answer. So if Silvia and Noelia had had 2 girls instead of 2 boys, they would have passed on the genetic mutation but it wouldn't have developed.
"Research is important", comments Silvia. "When I was little, one of my brothers died and they said it was because of pneumonia. Now, with the genetic advances that have been made we know so much more and we have discovered that the mutation of this gene has existed in my family for more than 3 generations".
The risk of a child with this illness dying from any type of infection is high. Both mothers agree that the worst moment was while they were waiting for the Carreras Foundation to find compatible bone marrow and hoping their child did not catch an infection before the transplant. It was a race against the clock.
The José Carreras Foundation found two Umbilical cords from American donors and they could do the transplant a few months later. Silvia and Noelia make a joke out of a difficult situation. "It's like they are twins - the illness, the age, the origin of the umbilical cord...everything is the same." The truth is that they are two parallel stories.
Silvia and Noelia have spent a lot of time together and too long in the hospital. Different to leukaemia patients, Cassià and Nico have had to be in isolation chambers throughout all their time in hospital until 2 months after the transplant. They were only allowed one person accompanying them. Noelia says, "I left home one day and didn't return for 6 months. The children are okay because they are with you".
Currently, Cassià and Nico have to undergo checkups every 15 days with the cells from the umbilical cord fighting inside their bodies to make the lymphocytes work. Silvia gives us a fantastic explanation that, "a bone marrow transplant is like resetting a computer".
Cassià playing with a toy in the waiting room at Sant Pau Day Hospital
We leave whilst Cassià is running in the hospital corridor and Nico is having his check-up. They are lovely boys and we are sure they will come through this. We are amazed by their story. You learn something new every day.
Scientific research focusing on haematological malignancies is fundamental and it is even more important when you are dealing with such uncommon illnesses like the one we have just explained. The José Carreras Foundation's main mission is to make Leukaemia and other malign blood diseases curable. There is only one answer: more and better research.
Help people like Cassià and Nico by becoming a member of the cure for leukaemia and haematological malignacies, HERE. You will help us to continue our research so that one day these diseases will be 100% curable. With only a little you can do so much. Thank you!
Find out more about bone marrow donation, HERE