Leonardo's parents, Alfredo and Emanuela, noticed that Leonardo was having problems soon after he was born. He was eventually diagnosed with leukodystrophy and a genetic test confirmed that it was Pelizaeus-Merzbacher Disease, a rare hereditary form of leukodystrophy. The disease affects the growth of myelin sheaths, which surrounds axons in the brain and are essential for proper neural functioning. This abnormal growth causes symptoms similar to cerebral palsy. Patients with this condition often have poor tone and muscle control and delayed cognitive development.
Leonardo's symptoms were fairly typical, as his father explains, "What struck me immediately when he was younger was the fact he couldn't hold his head up. His head was wobbling. He had no trunk control, no muscle tone anywhere. The first medical visits didn't give us any useful information. The doctors were saying, maybe the baby needs to grow, maybe he will recuperate with time. But years passed and he didn't recuperate."
Since they failed to find effective treatment at home, Leonardo's parents began to look elsewhere. Alfredo found out about the possibility of stem cell treatment and decided to take a trip to China to see the treatment center for himself.
Alfredo said "We were really undecided. It took me a year to try to persuade my wife to consider treatment. Until I proposed it as a leisure trip to China, I said 'let's visit China, it is a charming country after all, and when we are there we can take the chance to visit the hospital, let's go see how it is, let's see what they do…' So we went, we met with the interpreter, with the local coordinator, we spoke with the doctor, Dr. Tony, and we had a good impression. They clearly explained how stem cells worked, what we could expect from the treatment, what we couldn't expect. And we appreciated this as we weren't given any promises of miracles. We were given fair hope. We were told there was a possibility, so we decided to take this chance. We decided to try."
After a positive first treatment, his family accompanied him back to China for two more rounds of stem cell therapy.
Treatment in China
Leonardo came to China for stem cell treatment three separate times in 2008, 2009 and 2010. During each trip he received adult stem cell injections along with physical therapy, occupational therapy, electric wave therapy, and acupuncture.
Condition After Treatment
In 2008, while Leonardo was in the hospital receiving his first stem cell treatment, his parents soon began to notice some small changes in his condition. Though they were doubtful at first, these turned out to be significant and have persisted ever since.
Alfredo said, "One of the symptoms of this condition, Pelizaeus-Merzbacher Disease, is ocular nystagmus that makes the eyes jerk horizontally without rest, so that one cannot focus on any object. After the first injection there was a slight improvement with this, we noticed it, but we thought it was too quick to be true.
"Another thing that we immediately noticed was an improvement in the narrowness of his throat. Leonardo had often had problems swallowing and we had to feed him small chunks or liquids and still he often would choke. Yet soon after the first injection his throat widened, and this was a dramatic effect of the stem cells.
"The important aspect is that these improvements have stayed at the same level. The first time we came it was June 2008, now it's June 2010, so it is almost 2 years and the results have remained the same."
Leonardo's motor control also improved. His father said "Another important improvement after the first injections was that Leonardo managed to open and close his hand completely, whereas before the treatment his hand used to be all folded up, he couldn't extend the fingers. Now, he can do that easily, and he can count with his fingers. His fine motor control is still far from being perfect but it is better. Movements of his arm also have improved, before the movements used to be jerky. We can say the therapy has helped reduce the spasticity of the muscle, so he can now move his arm more slowly and with more coordination, and this is surely an improvement."
Most important for his parents was the rapid development of previously delayed cognitive functions following stem cell treatment. "Before the treatment his words were really confused, we had to put in extra effort to understand what he was saying. Now you still need some concentration to get the meaning. However he makes himself understood really well. If someone doesn't understand him, Leonardo tries to find a way to get his meaning through. For instance if he could not pronounce 'ball' he would try again with 'the thing that bounces.' He can find a logical strategy, I believe this is evidence of an improvement in his cognition."
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