Today,
President of the International Association of Families and People Affected by
Lipodystrophy (AELIP), Naca Eulalia Pérez de Tudela, and Murcia Health Council
member Manuel Villegas, presented the World Lipodystrophy Day campaign, which
will be held on 31st March. Also present at the ceremony were AELIP
Vice-President Juan Carrión Tudela; AELIP social worker, José Jerez;
Secretary-General of the Murcia Health Council, Miguel Ángel Miralles
González-Conde; and the Director-General of Public Health and Addictions, José
Carlos Vicente López.
Lipodystrophies
belong to a group of syndromes which cause an extreme resistance to insulin and
are characterised by the breakdown of the adipose tissue, caused by fat loss
throughout the entire body. This tends to occur during the first two years
after birth.
The
awareness campaign for this rare disease, this year called, “Care for
Lipodystrophy”, will put on a range of activities aimed at raising the
visibility of the reality for people affected by lipodystrophies. The campaign
has already kicked off on social media, with members of the public being
encouraged to upload photos of themselves making the letter ‘L’ with their
thumb and forefinger, with the hashtags #care4lipodystrophy2019 and #AELIP2019.
Among
the activities planned includes readings of World Lipodystrophy Day Manifesto
in different town and city councils such as Totana, Murcia, Mula, Cartagena,
Mahon, Vigo and Huelva, as well as turquoise light displays in public spaces on
31st March.
Solidarity
events have also been planned in the form of a fashion show on 6th April in
Mula, and a 5-a-side football match Torneo
Deitana Urbs on 27th April in Totana, as well as other sporting events to
raise awareness.
As
of the start of the campaign, and every day until the 31st March, we will be
uploading an article from the World Lipodystrophy Day Manifesto, a list of
rules outlining the principal rights and needs of people affected by these
diseases.
The
World Lipodystrophy Day 2019 campaign has the support of several international
bodies working in the field of rare diseases, such as the Spanish Federation of
Rare Diseases (FEDER), the Spanish Society of Lipodystrophies (SEL), the
Iberoamerican Alliance for Rare Diseases (ALIBER), the European Organisation
for Rare Diseases (EURORDIS), Rare Diseases International, and the European
Consortium of Lipodystrophies (ECLIP). Similar events are going to be held by Lipodystrophies United (USA), Lipodystrophies UK, AFLIP
(France) y AILIP (Italy).
In
the region of Murcia, there are 7 registered diagnosed cases of congenital
lipodystrophy, or Berardelli-Seip syndrome, which is largely associated with
neurodegeneration. This new type of lipodystrophy was first described in 2013
by a research team led by Dr Encarna Guillén Navarro at the Murcia Biomedical
Research Institute.
This
extremely rare genetic disease is produced when both biological parents are
asymptomatic carriers of a mutation in one of the candidate genes. Thus, there
is a 25% risk during pregnancy that the child will be born with this syndrome,
regardless of sex.
The
diagnosis is reached through biochemical analyses in a clinic, where it is
confirmed by means of a molecular study. Patients with the syndrome are cared
for on a multidisciplinary basis: medical genetics and dysmorphology,
neuropaediatrics, and paediatric endocrinology at Arrixaca Hospital.
