Le nostre storie‎ > ‎Anna‎ > ‎

Anna-english-version

This is my story.

But,  unfortunately, I am not the main character.

Everything  starts 8 years ago, when my pretty baby was born with a head a little bit bigger than the average: the scientific name is macrocrania.

A small delay in the motor development (he started walking at 18 months), but nothing more.

He can recover, his pediatrics told me.

When Chicco was 2 years old, he decided he had to sleep more.  His nanny realized the problem, as I work far from home and at 7 o’clock in the morning  I have to take a train to my job.

She ran to the hospital with my baby that could not wake up in any way: hypoglycemic crisis.

He was declared out of danger, but we began with the tests.

After one year and many unsuccessful medical tests, we decided to stop for a while. He had no longer had any crisis, but on the other hand he screamed desperately each time we approached  an hospital he knew.

Even his pediatrics gave his approval to our decision, so we hope having done the right thing for him.

In the meanwhile his speech defects and intellectual disability become evident and after some time we asked  for help again.

Once again tests and analysis. He starts being followed by his beloved speech therapist and by the psychomotility  therapist.

He starts going to the nursery school. Also there he has some problems to relate with his teacher and schoolfriends.

He has nothing serious, but the problem is taking shape. He obtains an assistant teacher at school.

Other angels helping him join the situation: his teachers.

Physically he is good, but he does not grow correctly, so we go to Hospital San Gerardo, in Monza  to discover  whether he has any foodstuff allergy.

It  doesn’t seem so: we are suggested to revert to a geneticist.

Two more genetic tests. One of them states: test for Pten gene.

It takes one year to have the results for both tests.

Five years have passed since the first admission to the hospital.

The result is devastating for us. Mutation of the Pten gene, de novo, i.e.  not an hereditary character and never disclosed in literature.

We do not know what we can expect, but the geneticists do not expect anything good.

I believed I had a child with a small problem of intellectual disability, but apart from this, physically healthy.  Suddenly I realize that the mental delay is only the top of the iceberg. The iceberg is called tumor. And then there are many other stray ice cubes like malformations in the  arterial and venous system and the autism.

The doctors have decided to do nothing for the moment. They wait because statistically this disease becomes very dangerous  after the adolescence, while during childhood there is only a risk for thyroid.

According to you is it possible that parents wait still and calm while their child grows and develops a cancer? Without doing anything?

So, like any other people living the same situation, I begin looking for information about PHTS syndrome (PTEN Hamartoma Tumor Syndrome /Cowden syndrome/ Bannayan-Ruvcalba-Riley syndrome).

I look for centers specialized in treating this rare disease. I look for associations that could help me. I look for scientific researches showing me any possible treatment.

Nothing.

The  desert  of the Tartars.

We are alone.

And now what can we do?

I cry for months.

Then I begin to find some information, but nobody speaks about any treatment. In America there is a center treating patients suffering of this disease.

Unfortunately even there they have no possible cure: they only keep the patients under control in order to stop the tumor during the first stage.

I find an association of patients, it is called Ptenworld. It is also present on Facebook. I subscribe. I meet Claudio. Both Italians and desperate.

We decide to start doing something also in Italy and create a group on Facebook: Pten Italia.

Then a website, this one.

And now, what else can we do?

Maybe an association.

With 2 persons?

Maybe two, maybe three, because in the meantime we found another mother with the same problem.

What do we want to do?

-          Obtain (or find, if it exists) a multidisciplinary reference center, with doctors well knowing the disease in order to avoid  wandering through the hospitals to have my baby examined by 10 different specialists (gastroenterologist, dermatologist, oncologist, geneticist  etc…) who, with the exception of the geneticist and (I hope so) of the oncologist, neither know what PTEN is and they are therefore not in a condition to take care correctly of the patient. I even heard my child be called ‘ the baby with a strange disease’: he was described with these words by the doctor who should have been treating  him. This is not a malpractice of the national health system. It is the rareness of the disease. 1 person every 200.000… How can all the doctors know it? Even the specialists  working with rare diseases know it very little. I cannot go to any doctor believing  that he can inquire and work with this disease. I must find a team of doctors with experience in this disease.

-          We are few: is it possible to extend collaboration with other specialized centers, for example the one in America (Cleveland Clinic managed by Dr. Charis Eng) treating these patients and make good use of their experience to improve the nursing? Everybody could take advantage from this.

-          Promote research  because even if few persons are interested in PHTS syndromes, many people are interested of PTEN gene as the same is involved in many cancer diseases. There is a shower of researches about PTEN and on how to operate in case of cancer with somatic mutation of this gene. It is not necessary to start from nothing. Maybe  it is only necessary to focus on the specific problem of the syndrome before any cancer may arise, maybe it will be possible to arrive to a protocol of chemoprophylaxis decreasing the possibilities to develop the most serious disease. I speak from my stomach not as a scientist, but as someone thinking that sometimes dreams come true…

 

What shall we be able to do?

Maybe nothing, but at least we would have tried to.

I would not stay still waiting for my baby to develop cancer.

Send me your best wishes.

We shall need them all.

We are moving war against Goliath.

And we are neither fitted up with a sling.

Comments