The Lama2 community is growing! Meet the families and foundations
The Lama2 community is growing. We are working closely together more and more around the world. There are patient organizations in several continents that want to support families in their own countries. In this article, we introduce some enthusiastic families and foundations.
Olivia Sem Limites – Brasil
Website: https://oliviasemlimites.com.br/
This story begins like all others, a normal couple Douglas and Melinda, who, like any family, decide to have a child. Olivia is born after a very peaceful pregnancy and many happy moments. And at the first appointment with the pediatrician, she noticed the presence of hypotonia, and from there we began a journey until the first MRI of the head, which the report indicates the presence of white matter compatible with congenital muscular dystrophy Lama2.
Our world stopped and we no longer had ground under our feet. From then on, we felt many feelings, anger, sadness, revolt… At the same time, we began to look for what we could do to improve her life. We do not accept the lack of treatment, we do not accept that there is no cure. In these searches, we found Voor Sara and some studies around the world. We were always thinking about Olivia.
The reason we decided to create a project here in Brazil was when we came across families with such basic needs that they needed everything, with patients who had not had physical therapy for more than 2 years, who had difficulty with basic and special diets, in short, with difficulties with everything, and seeing this made our hearts even heavier.
We cannot stand still with so many incredible children without proper treatment and care. We created this association to support families facing the same challenges, offering access to information, support and, above all, hope.
Douglas and Melinda
Lama2 India – India
Website: https://lama2india.com/
Lama2 India foundation has been formed by a group of socially conscious renowned people with a mission to advance research towards treatment for the Lama2 Congenital Muscular Dystrophy and empower those living with CMD through engagement and support of our community.
Lama2 India comprises a group of Indian Patients who have rare genetic disorders defined by muscle weakness at or soon after birth. Mutations in one of more than 30 genes cause muscle tissue to break down faster than the body can repair it. The said disease is named as Lama2 Congenital Muscular Dystrophy (Lama2-CMD), also known as Merosin-Deficient Muscular Dystrophy (MDC1A)
We have joined hands with different associates and collaborators concerned with this disease and took an initiative forward by forming a Lama2 India foundation.
We are committed and dedicated to advancing research in India, improving care standards, and empowering families affected by LAMA2-CMD.
We call upon you to join us in our journey to create a brighter future for LAMA2 – CMD patients filled with public awareness, support, collaboration, and dedication.
Lama2 Germany
Website: https://lama2.de/
We are families from all over Germany with children, adolescents and young adults who have congenital muscular dystrophy type 1A (MDC1A, also known as LAMA2). Although LAMA2 is a rare disease, it is the most common form of congenital muscular dystrophy.
Currently, only 10 affected families in Germany are networked with each other – mostly through their own initiative, muscle centres or the international platform Lama2.com.
We are constantly on the lookout for more people affected, as the actual number is probably higher. Many people could still be unrecognised due to the wide range of symptoms and lack of diagnosis.
We work and are in close contact with the international organisation Lama2.com and the Dutch-based foundation voor Sara. Voor Sara, from the Netherlands, was founded by the Verbrugge family and, alongside the US organisation Cure CMD, represents the origin of the supporting community, which has been expanded over a period of time by national associations and organisations. Our goals are: To connect affected people (families), interested parties and supporters. To provide help from affected people for affected people. To establish a network in Germany. To publicise the diagnosis and network with relevant institutions. To jointly promote research into therapeutic approaches and provide financial support and experience.
Emily’s future is now – Switzerland
Website: https://emilysfuture.ch/en/home-english/
The non-profit organisation ‘Emily’s future is now’ is named after the girl Emily. She is a very open-hearted and cheerful child with a sunny disposition who has suffered from the severe, rare form of merosin deficiency muscular dystrophy, also known as LAMA2, since her birth on 28 December 2018 and is still unable to walk. At the age of 4, after Emily had to take cough syrup again, she asked: ‘Daddy, and when will I get the medicine so I can finally walk?’
This event triggered the final starting signal for the project of a non-profit association in favour of research into this disease, not only for Emily but for all LAMA2 sick children around the world. We, at Emily’s Future is Now are: Emily’s father; Dr. Vincenzo Di Giulio (President of the Foundation), mom; Silvana Di Giulio, aunt Dana Di Giulio, social manager, aunt; Michela Ribeiro and grandmother (secretary of the association) Ingrid Di Giulio.
We are very young as an association (officially registered as a charity, according to Swiss law) and we want to achieve our goal, which is to raise funds to be used for research to find a cure for LAMA2, so our dream and the dream of all LAMA2 sick children becomes a reality – to be able to walk.
Association Dodò – Italia
Website: www.associazionedodo.com
The Dodò Association is named after a child suffering from this pathology: Domenico.
Domenico is a very lively, attentive and joyful child. He has been affected by this pathology since birth and has never walked.
The “Dodò” Association for the fight against merosin-deficient muscular dystrophy arose from the need to draw attention to a disease defined as a rare among the rare, and being so, still lacking a cure and a specific study.
The Association’s aim is to promote and disseminate communication and information, both social and health-related, on the suffering of neuromuscular diseases, in particular merosin deficiency muscular dystrophy, but also to promote the sharing of support tools for patients and their families. We want fund research to find a cure for the disease, save the lives of patients and make their conditions and those of their families more liveable through fundraising events
We provide counselling and psychological support to families, to facilitate their approach to the disease and reduce the psychological distress related to it, favouring the integration of psychological support and pharmacological therapies. We want to raise public and institutional awareness of the logistical-assistance problems, encourage the inclusion of the sick in the social context (school, social, sporting and recreational activities) by promoting the organisation of cultural, sporting and recreational activities (summer centres, creative workshops, music courses, etc.) also in collaboration with public and private bodies and/or organisations.
Lama2 Bulgaria – Bulgaria
Website: https://lama2.bg/
We are Genadi Samokovarov and Teodora Gerganska, parents of Bojana and Marko.
Bojana is our first child – she is healthy, active and cheerful. Marco, our second child, was born with a rare genetic disorder called LAMA2 Muscular Dystrophy (LAMA2 CMD).
Affected children suffer from muscle weakness (hypotonia), contractures, epileptic seizures and other symptoms caused by a lack of the protein laminin-211 (Laminin-211).
Despite the severe diagnosis, Marco is a smiling, smart and cheerful child. We created the LAMA2 Bulgaria Foundation to support LAMA2-affected children in Bulgaria and to support the research needed to develop a therapy.
CMDTR – Türkiye
Website: https://cmdtr.com/
CMDTR was established in 2021 to support diagnosis and treatment methods for Congenital Muscular Dystrophy Diseases. Our aim is to support national and international scientific studies on these diseases that are congenital or seen from a very young age, and to ensure that all patients reach diagnoses and treatments as soon as possible. In addition, it is to provide the necessary rehabilitation devices for patients and deliver them to patients in need.
The foundation was established by Onur G. Cakir and Selin Cakir, whose daughter has CMD.
