Interview with its President, Lula Vila (by GD Enterprise)
GDEnterprise: What are inherited metabolic diseases? What does it mean to have a family member with this disease? How many people are affected by these diseases in Spain?
Answer Lula Vila: They are a group of congenital diseases that affect protein metabolism, the person who suffers from it is unable to transform the food they eat well and these become acids that affect vital organs such as the brain.
Hereditary metabolic diseases are included within rare diseases since their incidence is very low, being one affected for every ten thousand births.
Having an affected family member means keeping a strict control of the protein intake in the diet. They must follow a strict and protein-restricted diet throughout their lives. Low-protein products are expensive and hard to come by.
It is very important that proteins are kept within the optimal levels for each person, to avoid toxicity and promote good growth and development of the person.
In Spain there is still no exact record of the number of affected, but we know that a work is being carried out to compile births with hereditary metabolic diseases since 1969.
Q: Since when does the Association that gave rise to this Foundation exist? What is your journey and what have you achieved in this short course?
A: The Catalan Association PKU and other hereditary metabolic disorders, was created in 2001 by a group of parents with children affected by these diseases. It is a voluntary and non-profit association, which aims to support families on a psychological and social level, collaborating with the teams of doctors from the different reference hospitals and organizing family encounters.
Our journey is based mainly on giving visibility to this group of metabolic diseases, making the population aware of our existence and denouncing the needs that we do not have covered by the health system.
In 2012 and thanks to the collaboration of the team of doctors who treat our children, we created and managed at the Sant Joan De Deu Hospital in Barcelona the first bank of special low-protein foods, where families can get special foods without having to pay the high prices of the distribution houses.
One of the main objectives of the Foundation is to discover possible ways of partial or total cure for these diseases.
“Through the Sant Joan de Déu Hospital in Barcelona we manage the first bank of special low-protein foods”
Q: How much is really known about inherited metabolic disorders? There is a long way to go?
A: They are little or no known diseases because the prevalence is small, that is why they are included in the group of minority diseases. As they are minority diseases, they fall into the group of rare diseases.
At present, we have to make sure that the treatment of these diseases is to reduce, control or eliminate proteins from the diet and supplement the diet with an amino acid formula three times a day.
There is still a long way to go, although we have great hope in the studies that are being carried out on hereditary metabolic diseases, especially with gene therapy (it consists of replacing the defective gene with a healthy one), although we sense it in a still very distant future.
Q: What does comprehensive care like the one you develop in the organization entail? What panorama exists in Spain related to helping these diseases?
A: Those of us who are part of the Board of Directors of the PKU and OMD Foundation are volunteers, parents who have gone through the same thing and we try to make the new ones feel as protected as possible, but it is not easy, since we lack the personal information at the time of birth.
Newcomers, as a general rule and in recent years, contact us through social networks. In Spain, not all communities treat hereditary metabolic diseases in the same way. I know that work is being done to unify the treatment criteria so that all newborns have the same treatment opportunities regardless of their place of birth.
In some communities, essential foods such as bread, pasta, rice and special low-protein milk are supplied by the same referral hospital in charge of public health.
Here in Catalonia this does not happen, each family has to look for low-protein foods on their own, that is why we decided to open the special food bank.
Q: How important is scientific research in this field? Do you have a medium or long-term fundraising objective for a specific project?
A: For us it is very important to continue research, although we are aware of the difficulty, since we are a very small group that does not interest pharmaceutical companies due to their low return.
Currently, in order to know the protein levels, we must go to the hospital and perform a blood test or take a sample there. This is a great waste of time and not knowing the results for a few days.
From this need comes the foundational objective, which is to raise funds for the research of a biosensor to be able to measure proteins in blood at home, similar to what diabetics have to measure glucose levels.
We have the collaboration of the laboratory of the Hospital San Joan De Deu in Barcelona and the Biosensors development team of the Autonomous University of Barcelona.
Due to COVID we have had to suspend all the events that we organized, that is why we have initiated a crowdfunding action to cover the objectives with the help of donors, and all people sensitive to the serious difficulties to fight against rare diseases that affect our kids.