In Spain, close to three million people suffer from rare diseases, facing difficulties associated with delayed diagnosis or the non-existence or lack of availability of treatments. As a society, we must support and contribute to improving their quality of life and, for this, research is essential, but also its visibility.
There are various associations for those affected by rare diseases. One of them is the MPS Lysosomal Association, whose objective is to make life easier for people affected by these syndromes and their families. “Dealing with other people who are experiencing the same situation helps to better understand and find ways together to achieve common goals,” explains Jordi Cruz, director of the MPS Lisosomal Association.
The entity, which is celebrating its 20th anniversary, carries out different awareness-raising events throughout the year, and Cruz has the feeling that considerable progress has been made in this regard. “There is already talk of minority diseases and a little more is being known. We have great experts, hospital centers and researchers who are increasingly focused on the patient and his needs. Much remains to be done, and we must continue working so that society does not forget that we exist”, he affirms.
Pharmaceutical companies also do a great job betting on these types of diseases. One of these is Chiesi Spain, the biopharmaceutical subsidiary of the Chiesi Group that seeks to improve people’s quality of life through innovative treatments. “One of our key areas is research into rare and ultra-rare diseases, with the challenge of finding solutions that we can make available to these patients, as well as supporting awareness and visibility of these pathologies”, says Dolors Querol, medical director from Chiesi Spain. And she adds that, “we collaborate with patient associations and health professionals to raise awareness about these rare diseases.”
One of the most well-received initiatives of Chiesi Spain has been the launch of the International Competition of Photography and Short Films on Rare Diseases, which reaches its second edition, giving patients a voice. But beyond making visible and raising awareness, Querol believes, “from the sector we must promote involvement in the search for solutions. RD is a key aspect in this regard, and one of Chiesi’s priorities in order to make innovative therapies available to patients”.
For this reason, at Group level, Chiesi invests close to 20% of its global turnover in continuing to respond to the diseases with which they work, such as –among other pathologies– Leber’s hereditary optic neuropathy (NOHL), nephropathic cystinosis, Fabry disease or alpha mannosidosis, a rare hereditary, degenerative and irreversible disease, related to a genetic disorder and included within the lysosomal storage diseases. “Although it is difficult to accurately estimate its prevalence, this disease is estimated to affect one case per 500,000 inhabitants,” says Dr. Álvaro Hermida, a specialist in alpha mannosidosis.
Although it is true that not all patients manifest the same symptoms or at the same time, and although babies usually appear normal at birth, the first symptoms appear in a matter of months or the first few years of life, and worsen progressively, highlighting defects in the immune system, bone and motor disorders, as well as intellectual development disorders, among others.
Although it debuts in childhood, it is not uncommon for some patients to be diagnosed in adulthood, with already advanced symptoms and clearly limiting their quality of life. The diagnosis is quite simple, and a blood test is enough to measure the enzymatic activity and confirm it with a genetic study, which will also serve to provide genetic counseling to families and detect possible carriers.
“The truly difficult thing is to think of such a rare disease and that is why they tend to accumulate a long delay in diagnosis.” The warning signs that should make us suspicious are, above all, those children who suffer from repeated infections, who usually present deformities in the bones (frequently also in the face) and that they usually take time to acquire some skills such as walking or speaking.
It is also frequent that they present some degree of deafness and deviation of the gaze (squint)”, points out Dr. Hermida. “It is a disease with a markedly progressive nature, that is, it can be expected that the symptoms will progress over time and, with it, the increasing impact on daily activities and, therefore, a worsening in the quality of life. For this reason, it is crucial to detect the disease in its earliest stages, where treatments can still be applied that have been shown to significantly stop or slow down the progression of the disease.” But, to end with a better taste in the mouth, the collaboration of both entities, such as doctors and pharmaceutical companies, gives us hope.
“Patients with alpha mannosidosis can now benefit from enzyme replacement therapy that has been shown to improve their functional capacity when administered early. It is too soon to venture to draw conclusions, but the fact that the first studies in gene therapy have been launched could mean a revolution in the treatment of alpha mannosidosis and other rare diseases that we have been waiting for so long”, predicts Dr. Álvaro hermida.
