Elena’s story: «I was walking badly, then the truth: mitochondrial disease with very rare genetic mutation»

Elena, 44, a mother of three boys aged 15, 12 and 9, suffers from a mitochondrial disease that she was diagnosed seven years ago. She misses her balance due to a neuropathy that has removed her sensitivity from the knee down. He says: «I had not had any problems until 2008 when my last child was born. Sometimes the walk was a bit ‘uncertain, but I had not given much weight. It was my brother-in-law, a neurologist, who noticed, after a few months since Simone was born, that I was walking badly.

 From there the investigations began: many examinations and hospitalizations in different cities, until in 2011 I was diagnosed with this rare disease, very difficult to identify because there are many genetic mutations. Mine is one of these, and I could also be the only one in the world to have it. Four years ago I wrote my story on Facebook in the hopes of being able to compare myself with other people with my own illness, but I could not find anyone.

” There are hundreds of different mitochondrial diseases: they have in common the genetic malfunction of the mitochondria, the organelles of the cells that provide the production of energy used by our body. It is estimated that in Europe one in five thousand people is affected by one of these rare diseases, which can arise in the first years of life or in adulthood. Each syndrome, taken individually, is rare or very rare, but together they constitute a group of frequent pathologies. There are hundreds of different mitochondrial diseases: they have in common the genetic malfunction of the mitochondria, the organelles of the cells that provide the production of energy used by our body. It is estimated that in Europe one in five thousand people is affected by one of these rare diseases, which can arise in the first years of life or in adulthood. 

Each syndrome, taken individually, is rare or very rare, but together they constitute a group of frequent pathologies. There are hundreds of different mitochondrial diseases: they have in common the genetic malfunction of the mitochondria, the organelles of the cells that provide the production of energy used by our body. It is estimated that in Europe one in five thousand people is affected by one of these rare diseases, which can arise in the first years of life or in adulthood. Each syndrome, taken individually, is rare or very rare, but together they constitute a group of frequent pathologies. that can arise in the first years of life or in adulthood. Each syndrome, taken individually, is rare or very rare, but together they constitute a group of frequent pathologies. that can arise in the first years of life or in adulthood. Each syndrome, taken individually, is rare or very rare, but together they constitute a group of frequent pathologies. 

Half of patients without a diagnosis

A characteristic of these diseases, which has made it very difficult to study over the years, is the great variability of clinical manifestations. The organs most frequently affected are those that require a greater energy requirement, that is the nervous system, the heart, the muscles, moreover they can be involved, in different combinations and entities, also the sight, the hearing and other organs. But the impact on the organs, the rate of progression and the age of onset varies from disease to disease and from patient to patient, even within the same family. Even today, almost half of the patients do not have a genetic diagnosis, that is, one in two cases do not know the genetic causes of these diseases, even if progress is being made thanks to research. 

«I can not pick up my son»

“It’s frustrating not being able to do many things anymore, not being able to stand a long time standing, not being able to stand still with my legs – Elena continues -. My three children grew up with a mother who had something different than the others, I never managed to pick up the smallest, born when I began to feel bad. But they never made me weigh, indeed: they are very responsible and they also help me in the house, as well as my husband, who is my rock. I would like to do a lot more but I can not, because every day I see that something is taken away from me. And I do not know what to expect from a near future. The charge, as well as my loved ones, also comes from  Mitocon (association of reference of patients,  ed), which became my second family. I was at the recent conference in Rome: for me it is very important to be able to compare myself with other people who really understand what I say and what I feel, to be able to share similar problems, to know where the research is. ” 

Research funds are lacking

The eighth national conference, organized by Mitocon at the end of May, was a moment of confrontation between patients and experts, clinicians, Italian and foreign researchers, on the progress of national and international research. The president of Mitocon says, Piero Santantonio: “Until recently, the genetic origins of the disease and its mutations were unknown, but in recent years giant steps have been taken in the diagnosis of some mitochondrial diseases and new scenarios are opening up. therapeutic. In fact, there are experimental therapies for various mitochondrial diseases, some being studied in vitroor on animal models, others already on human experimentation with promising results. In Italy – underlines Santantonio – we have among the best researchers in the world in mitochondrial diseases, but research funds are lacking. For this reason, as an association, we support researchers with the raising of funds thanks to the support of many volunteers and benefactors who are close to us ».

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