“Obtaining the Royal Family grant has been an energy boost for the “De Neu” association.”

The “De Neu” association is celebrating. Their project for a family gathering at a ski resort as a therapeutic activity has been selected to receive the Royal Family grant, which this year amounts to €5,000.

Esther Guillemot, the association's psychologist, shares some insights into the work they do with the fifteen families that are part of this organization, which has, in just 10 years, become a global reference in neurotransmitter-related diseases.

With just fifteen associated families, could you say that “De Neu” is a small organization?

Yes, we are a very small association, although we celebrated our tenth anniversary this year. “De Neu” was initiated by Dr. Àngels García Cazorla, a researcher at the “Sant Joan de Déu” hospital in Barcelona. She proposed to some families affected by neurotransmitter diseases to come together as an association to raise funds for research. This is very important in associations dealing with rare diseases like those related to neurotransmitters. We have limited resources, but we are very proud of what we have achieved in these 10 years.

What kind of patients do you work with?

Our association represents patients who face difficulties due to malfunctioning neurotransmitters. There are many types of neurotransmitters, and depending on which ones are affected and the type of failure they present, patients can develop up to seven different diseases. This makes each case unique, especially since these are rare diseases, which complicates research significantly. That's why we believe it’s crucial to foster connections with other networks beyond our association, benefiting from studies that may be conducted elsewhere in the world. Recruiting cases is very difficult, so connection is essential for all the children in our association to benefit.

How many families are part of “De Neu”?

Currently, we have fifteen families in “De Neu”, geographically distributed across Spain, including one in Menorca, as well as in Valencia, Madrid, Aragón, Andalucía, and even one family from Argentina. There are also cases of families with two affected siblings.

Is supporting research a crucial topic for “De Neu”?

Yes, it is the cornerstone of our activity. Research into rare diseases is scarce and complicated, even more so when it comes to ultra-rare diseases. Therefore, we not only support research in other institutions, but we also launch our own convocations for research help. We have only had two editions so far, but for such a small association, being able to offer our own convocations is a reason to be proud.

What is life like for patients with a neurotransmitter disease?

Most show symptoms from a very early age. The little ones usually first display psychomotor delays, although the initial symptoms can vary widely, from severe motor impairments to cases without motor involvement but with intellectual or emotional difficulties. They require many adaptations and visits to specialists. Some attend regular schools with multiple supports, while others go to specialized centres. What is common among all patients and their families is the emotional impact. The issues and experiences they face lead to other disorders, such as anxiety, stress, social isolation, and various associated psychological pathologies, which we try to support through the association. In this regard, we are promoting a project to create a group for families, mainly mothers, to share experiences and support one another.

What does the Royal Family grant mean for you at this moment?

It has been an energy boost because we have been presenting projects for many years to secure funding. Some focus on research, but others, like this one, aim to provide support to affected individuals and their families through therapeutic respite and disconnection activities. In this case, we have been trying for some time to organize an adapted ski trip, which we believe can bring significant benefits for both the children and their siblings, making this activity an inclusive experience in nature.

I call it a high because it is a project we presented to the hospital “12th of October” in Madrid. We receive help, but this is an activity that entails many expenses: accommodation, adapted wheel chairs, and all the involved professionals. Additionally, the families are widely distributed, which means travel from different parts of the country, with economies already impacted by the costs of treating these diseases. Thus, the €5,000 from the Royal Family grant will allow us to cover the remaining expenses and finally carry out this activity, which will also serve as an annual family gathering.