The story of Samuel Spanu
Samuel was born like every normal kid and stayed that way until he was two years old, when he regressed. Now he is a little boy of four.
In April 2024, Samuel was diagnosed by a genetic test at Meyer Hospital in Italy with PTEN Hamartoma Tumor Syndrome. This syndrome in Samuel is ”de novo,” meaning that it’s a genetic mutation, and wasn’t inherited from us. New diagnostic tools have identified PHTS, which can lead to Autism, Cowden Syndrome, Proteus Syndrome, Macrocephaly and other illnesses. People with PHTS are at risk for many malignant cancers, including thyroid cancer, kidney cancer, colorectal cancer and skin cancers.
There is also a broad range of neurodevelomental effects, which means that Samuel will need expensive treatments and therapies, with the possibility of surgery and the necessity for many follow-ups.
Despite the negative news, the last thing we want to do is lose hope. We’re trying to do everything we can, including frequent doctor check-ups, medical tests, and therapies, which are physically and mentally exhausting.
Good healthcare is not free and our little angel is so young. Our most important prayer is to be able to give him the possibility of living a normal life, doing all the things he loves, like swimming in the pool, horseback riding and playing outside.
We have found hope in many therapies which means a huge amount of money that we don’t have. If we want to give him this hope, we need to work hard and do many therapies till he is young and could become “ verbal”.
Thank you for taking the time to read this through, donating whatever you can, and spreading the word about Samuel and our hopes for him.