Press Release
5-th Rare Disease Day

29 February 2012
Kharkiv, Ukraine 

Charitable Foundation Children with SMA announces actions regarding
Rare Disease Day 2012 in Ukraine on 29 February 2012.

The main objective of Rare Disease Day 2012 is to raise awareness of rare diseases and of their impact on patients’ lives, and reinforce their importance as a public health priority.

Organised by National Rare Disease Alliance members of EURORDIS and partners, it is hoped that the Day will help raise awareness of life threatening or chronically debilitating rare diseases and the needs of the patients suffering from them.

“Rare but Strong Together” is main message for Rare Disease Day, because patients with Rare Disease is equal for receiving a care, access for normal life.

There is no cure today for the 6000 - 8,000 rare diseases, 75% of which affect children. In Ukraine  there are about 100 people (mostly children) living with rare diseases Spinal Muscular Atrophy, but this means about 300-500 with SMA totally, but inaccessible.

President of Foundation
Vitaliy Matyushenko

 Kharkiv Charitable Foundation “Children with Spinal Muscular Atrophy” – acronym CSMA

At all times and all periods of mankind history the health was considered as the highest value. The most difficult from the point of view of usual family is a disease that has resulted from a casual combination of genes that nobody could foresee and prevent. Owing to our efforts, in a difficult moment, we could give a big hope and a support to such families. We have taken upon oneself an important mission - to find a solution and path for treatment of rare diseases, and it is an hard purpose.

Quick facts about SMA disease.
Spinal muscular atrophy (SMA), the number one genetic killer of children under the age of two, is a group of inherited and often fatal diseases that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.

Who is affected?
SMA is one of the most prevalent genetic disorders.

• One in every 6,000 babies is born with SMA. Of children diagnosed before age two, 50 percent will die before their second birthday.
• SMA can strike anyone of any age, race or gender.
• One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.

SMA affects approximately hundreds of people in Ukraine. To date only 100 cases from Ukraine have been registered by the Foundation. It is a big problem in diagnostics and care for SMA patients.

The Children SMA Foundation unites people with the common interests, namely parents of the children with the Spinal Muscular Atrophy. CSMA is a non-governmental patient-driven organisation, dedicated to improving the quality of life for people living with SMA in Ukraine.

The primary goals of Foundation are:

• Protection of the rights of SMA patients and members of their families;
• Assistance in the solution of problems of SMA patients at a state level;
• Rendering of all-round aid of SMA patients, assistance in building optimum conditions for both treatment and education, work, rest and social adaptation, attaching a special attention to children and adolescents;
• Collecting, conservation, analysis and exchange of the open information on problems SMA in Ukraine and abroad;
• Informing patients about latest scientific findings;
• Involvement of experts for development and introductions of techniques with which work conducting establishments for boundary, development of our own directions of treatment;
• CSMA encourage experts in this field to work together to share good practice and to improve care;
• Support of programs of efficient treatment for children, SMA patients.

CSMA is a partner in the development of collaborative activities in Ukraine, offers organizational support through its office in Kharkiv, and acts as Web-portal for relevant research-related data. The CSMA stimulates and facilitates top-level scientific collaboration for SMA.

The Foundation is currently involved, in collaboration with several organisations around Europe. CSMA truly has experience with SMA.