Here at IPWSO we are celebrating the lives of people with Prader-Willi syndrome this Rare Disease Day 2021!
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on peoples’ lives.
The key message for Rare Disease Day 2021 is: Rare is many. Rare is strong. Rare is proud.
Rare Disease Day 2021 calls for action for people living with a rare disease to have equal opportunities to realise their potential for participation in family, work and social life. The long-term goal of Rare Disease Day over the next decade is increased equity for people living with a rare disease and their families.
This year, there is an important Rare Disease Day Policy Event, a call for a UN General Assembly Resolution to address the challenges of persons living with a rare disease (PLWRD) and their families. Rare Diseases International (RDI) is bringing together patient organisations, policy-makers, UN Permanent Missions and other stakeholders to launch a global campaign for equity and social justice for PLWRD. RDI asks us to be part of this important milestone for the rare disease community.
The common challenges affecting people with rare diseases must be tackled internationally as well as ensuring that specific challenges are also highlighted. IPWSO is an active part of the rare disease community to help achieve some of the crucial goals mentioned above and to ensure the needs of people with PWS are represented.
Prader-Willi syndrome is a rare complex genetic condition. Studies have shown that between 1 in 15,000 to 25,000 children are born with PWS and it affects all races and both sexes equally. Most people, including many physicians and caregivers as well as new parents and family members are not familiar with PWS.
In the run up to Rare Disease Day, we asked people to get in touch with their story about what life is like for people with PWS around the world.
PWS in Thailand
We heard back from Peak in Thailand, “Hello, my name is Peak, I am 12 years old and I have Prader-Willi syndrome. I am studying in Grade 6 of a normal private Thai school. I am a member of PWS Thailand Association, we have around 110 members.” Peak’s mother Pink tells us that “through PWS Thailand everyone can share and ask anything anytime, mostly on how to take care of children with PWS properly, in all aspects of life.” Pink also tells us that “Rare Disease Association Thailand are always supportive to our group.” There will be a Rare Disease event on 28th February in Bangkok lead by the Minister of Public Health. This will be a key day where PWS Thailand can raise its requirement to include Growth Hormone in the National Medicine List directly to the Thai Public Health authority.
PWS in Georgia
We also heard back from Zurab, father to Noe, a boy with Prader-Willi syndrome from Georgia. Zurab tells us that “in general, being a parent is one of the toughest jobs you will ever endure, but to be a parent to a child with PWS is a whole other level of tough.“ Zurab explains that having a child with PWS means a whole life full of challenges but all of them are overcome. Zurab also tells us that “Noe is a very lovely boy, he loves people and socialising with them. He loves fun, dancing, singing, and browsing books. He knows the name of many artists and especially loves Michael Jackson’s songs. He already knows more than a dozen verses. I am happy that he is my son and I love him more than words can say and always will.”
PWS in Colombia
María Elvira from Colombia got in touch to share her story about life with her son Carlitos, a 28 year old man with Prader-Willi syndrome. She tells us that “having a child with PWS challenges your patience, perseverance and discipline, stimulates your emotional intelligence, your creativity, your learning capacity, teaches you to forgive, to understand, to love unconditionally and makes you a better human being; that is their mission, ‘to be our teachers.’ Sometimes stubborn, anxious, aggressive, but always loving, transparent in their actions, happy, intelligent, the best gift that God and life have given us. Carlitos is our partner, he likes to hang out with his family and friends, he loves sports, dancing, horse riding, and above all, assemble puzzles! There, he enters in a state of active meditation that dazzles us with what he can do. We love him so much!”
PWS in Romania
Georgian from Romania also got in touch to tell us about his son Stefan, a three and a half year old boy with Prader-Willi syndrome. Stefan was diagnosed with PWS immediately after birth. Georgian explains that “although he still can’t do many things that children younger than him do, he is an ambitious, energetic child, a fighter, he likes long walks and climbs. Even if he doesn’t talk, he socialises easily, he likes to paint (even on himself!), he loves music and he loves to dance.”
Rare Disease Day takes place on 28th February this year and we are proud to support this inspirational day.
IPWSO welcomes stories from people with PWS, carers and families throughout the year. Send in your story and photo using this form!