Where We Are

by Fabiola Maria Bertinotti


JayaFrom left: Fabiola Maria Bertinotti, Jaya Alberto Motta, Maurizio Motta

Introducing myself

I am Fabiola Maria Bertinotti, mother of a boy now almost 18 years of age - Jaya Alberto Motta - that my husband and I adopted in Nepal fifteen years ago. Two years after his arrival in Italy, Jaya began to walk in a strange way, and at the age of 10 he ended up in a wheelchair. As you could imagine, a bitter mouthful. It was certainly not easy for Jaya, already an orphan, as well as for us as “new” parents and for all our family.

However, after a first moment of pain and sense of disorientation, we decided to react positively, relying on The Providence that had traced a path a bit different for us and for our Jaya. This "trust" has given us a lot of positive energy that we have poured into the family, friends and multiple specialists with whom we have started working. We surrounded our Jaya with an excellent team of Italian and international top class experts, so that he could benefit from the best possible care in order to maintain (and why not? improve) his functional capabilities. And then it happened: though today Jaya is in the chair, at every check-up (we have one at every quarter) he has never worsened. On the contrary, what we have observed, both us and the specialists, are small but constant successes, improvements that made us rejoice more every time, spreading so much hope among patients, doctors, physiotherapists, teachers, etc. Today Jaya is about to turn 18, he has just been promoted to the fifth year of a reputed scientific high school in Monza, and is busy studying for his entrance exam at the Faculty of Bio-Medical Engineering of the Milan Polytechnic. As a family, we do not normally like to talk about ourselves in public, but for this we have decided to do so, to share a positive story, starting from a situation of grief and discomfort.

Our pathway and social commitment as a patient family

As soon as we were informed of the diagnosis of our only son, my husband and I started working hard to learn about FSHD, and with much effort, made of nights and weekends of intense work and prayer, we gradually became a small but useful reference for other families with the FSHD interested in receiving practical information on why Jaya is doing so well despite his heavy burden.

From 2008 to today, we have become a family committed, not only for the sake of our son, but also for the good of the FSHD community, both in Italy and globally. In fact, we have found that it makes us feel good to help others, and not just focus on ourselves. Briefly the areas in which we are involved:

UILDM - In 2008 we shared our case and our desire for social commitment with the Presidency of the Italian Neuromuscular Umbrella Patient’s Association “Union for the Fight against Muscular Dystrophy” (UILDM), which immediately showed great interest with respect to providing more of a focus on FSHD in Italy, showing generosity and a visionary approach.

FSHD EUROPE - In 2010, thanks to the support provided to us by UILDM, together with other patients of various European nationalities, we founded a federation of FSHD patients' and families’ associations. UILDM then appointed me the representative of the Italian FSHD patients associated with UILDM within this federation. Today, FSHD EUROPA represents a European and global reference point that aims to promote communication and collaboration between patients, clinical centers, researchers, Italian and European institutions and organizations such as EMA, EURORDIS, TREAT-NMD, FSHD Champions.

CENTRO NEMO - Since 2010, we have benefited from, and in turn, have actively collaborated with (as patients), the excellent services of Centro Nemo in Milan and Rome, where my son participates in a 4-point quality therapeutic program incorporating the fields of neurology, physiatrists, general medicine, and psychology. I can bless and speak highly about the bleeding-edge work of this Italian center, under the auspices of the national health system, and its team of high-end specialists, with locations in both Milano and Rome, under the vigilant and enlightened supervision of Prof. Eugenio Mercuri.

CENTRE HOSPITALIER UNIVERSITAIRE DE MONTPELLIER, FRANCE – Since 2010 Jaya has been on a dietary regimen which is basically a very balanced diet rich in vegetables, fruit, whole wheat pasta and low in sugar. Meat and fish are also included every day in a balanced manner. We will never be able to thank enough Prof. Dalila Ladouj-Chenivesse and the head of Montpellier Hospital department of Clinical Physiology, Prof. Jacques Mercier, for having us on a therapeutic regimen consisting of the evidenced-based administration of vitamins and mineral salts which have helped Jaya maintain his levels of cell oxidation within normal standards.

TREAT-NMD – Since being elected in April 2018, I have servered as a member of the Directive Committee of the TREAT-NMD, a worldwide body operating in the neuromuscular field and based in London. The purpose of the organization, born from a project funded by the EU, is to provide a specialized infrastructure to ensure that the most promising therapies reach patients as quickly as possible. Since its launch in January 2007, the focus of TREAT-NMD has been on the development of an infrastructure / network which patients, physicians, scientists and pharmaceutical companies can access in order to promote new therapeutic approaches in the preclinical and clinical arenas. I appear among the members of the TREAT-NMD Executive Committee.

EURORDIS - Rare Diseases Europe - In June 2018, I obtained the EURORDIS certification as an "Expert Patient" in the field of neuromuscular diseases, which allows myself to be accredited at EMA - European Medicines Agency, the agency responsible for the scientific evaluation, supervision and monitoring of the safety of medicinal products within the 28 EU countries.

Executive Summary on the world of FSHD from a patient point of view.

  • Although belonging to the category of rare diseases, FSHD is one of the most common types of dystrophies. According to data made available by patients' associations on the occasion of the Day of FSHD, FSHD prevalence is equal to 1: 8,000 on the global population and likely much higher due to misdiagnosis and extreme variability such that the very mild cases are ignored. Source: World FSHD Day Toolkit.
  • Focusing on the resolution of this pathology means finding a therapy that has an impact on a population of around 95,000 people in Europe alone, with positive social and health benefits.
  • The good news is that this is an exciting time for the FSHD community. Finally, the attentions of pharmaceutical companies have been focused on addressing this dystrophy and we count about twenty studies on therapeutic options carried out all over the world with 14 pharmaceutical companies involved.
  • New digital technologies have provided strong acceleration to scientific studies, and the growing culture of placing value on the patient figure [feedback and collaboration], promoted by international institutions such as the EU, sees patients act more effectively alongside government institutions, national agencies, scientists, clinical trials, and the industry. We are moving quickly into the so-called era of Open Science, an evolved paradigm characterized by a more progressive and modern approach within the world of national and international healthcare systems. In fact, Open Science is based on the collaboration of the parties, with the beneficial consequence that public money is better spent because it is better focused on the community's interests.
  • Thanks to Telethon Italia, Italy has distinguished itself by giving a strong boost to FSHD research, through the financial support of Italian scientists such as Dr. Davide Gabellini, currently responsible for the genetics department of San Raffaele in Milan. Thanks to Telethon, Gabellini has been invited to return to Italy from the United States to participate in the Dulbecco Telethon Institute program. The financing of the scientific studies of Dr. Gabellini has continued until 2018.
  • Finally, Telethon Italia has financed a network of about fifteen neurological centers distributed throughout the Italy for the diagnosis of FSHD and other neuromuscular diseases. Data has been collected 1993 to today on about 1,300 individuals affected by FSHD.

FINE (or just the beginning)

See also Fabiola Bertinotti's previous article From Passive to Active, regarding Shared Decision Making.