13 Jul NIGHT RACE MUR I CASTELL – TUGA
On Friday, July 17, will take place the race III and nightlife “Garrut Font”. Organized by the C.M.P Mur i Castell – TUGA, a race down the mountain that will pass through the municipal area of the Vall D´Uixò.
Arumani is a sponsor of this race, and the opportunity to be in contact with this type of sporting events and other groups, has led to the situation that is perfect to create a synergy between the event and the Association of syndrome of Phelan – McDermid, considered a “rare disease”.
Meet Beatriz, mother of a child with the syndrome of Phelan – McDermid and the fight of it with his family by the research of this disease, to find a better quality of life for children born with the syndrome which is not known much information, motivated us to propose to the Organization of the race the possibility that will work with a small donation through enrollment.
What exactly is this syndrome?
It is a deletion of chromosome 22q13. It is caused in most cases by the loss of genetic material from the wire terminal end of the chromosome 22. The absence of this gene means that those affected suffer a delay in development in many areas, especially in the ability to speak. This mutation usually appears “novo”.
Each case is different, but can be assumed:
- Intellectual disabilities of varying degrees
- Developmental disorders.
- Normal or accelerated, growth
- Hands large and fleshy, Dysplastic, long eyelashes toenails
- Reduced pain perception, frequent mouth movements.
- Absence or delay in speech.
- Symptoms of autism or autism spectrum disorder
Problems for the families?
- Solitude, the doctors do not know the syndrome
- Little or little support from Administration to research.
- Search for funding and researchers.
- Multiple medical and therapies.
What is it going to allocate the money raised?
It will allocate to the clinical trial with IGF1 in patients affected by the Phelan-McDermid syndrome. A clinical trial with IGF1 in the Hospital de la Paz with Dr. Pablo Lapunzina and Dr. Julian Nevado in collaboration with the Mount Sinai Hospital in New York. In the United States is giving very good results and, from the Association, we want to raise the money to be able to start the vehicle and to help children with this diagnosis that will improve their quality of life.
C.M.P Mur i Castell – TUGA will allocate a euro of the inscription to the cause. It has also offered the possibility of “joint enrollment” in www.mychip.es of €5, for companies and individuals who do not participate in the race but want to collaborate. This amount will be entirely for the Association.
Inscriptions are open and you can book your place for this fearless night race down the mountain.
- Exit at 2145 hours from the track of Athletics of la Vall d’ Uixó.
- Closure of goal to 24.00 hours.
- Distribution of race bibs from 20.30 hours in the same track.
- COMPULSORY MATERIAL: Front or flashlight
- The race has 11500 m approximately, with a positive slope of 450 meters.
- The route will be marked with reflective tapes. In most hotspots, crosses, the staff of the organization.
More information in their Facebook profile
For more information about the Phelan – McDermid syndrome