An amazing blog from Jenny Wise
There Are Just 30 Known Cases of Jansen’s Metaphyseal Chondrodysplasia Worldwide.
Such is the rarity of Jansen's metaphyseal chondrodysplasia (JMC), the number of letters in its name is greater than the number of known cases worldwide. Neena Nizar and her two sons, Arshaan and Jahan, account for 10% of those cases. Neena is the founder of The Jansen’s Foundation, an organization committed to accelerating research into JMC and the other ~7,000 known rare diseases. With World Rare Disease Day on the horizon, Neena shares her family’s story with us and explains why advocacy work is so important.
The principles of servant leadership can guide visionary leaders to consider all facets: service to the community, patient care, and relationships built on respect and compassion. The rare disease leader’s supportive direction and vision maintains the unity and common purpose of the rare community. This organizational approach engages the community and promotes thoughtful insight and opportunities for establishing compassionate collaborative partnerships in all settings. It reminds us of the work that together we set out to do: bring cures to those who need it.
The plethora of rare-disease specific events does require an accessible venue, an investment in-staff training to provide an appropriate level of customer service, and networks within the rare disease space and for-profit sectors to capitalize on the potential opportunities rare disease patients bring to a conference as respected partners and collaborators of new drugs.
Neena discuses her role as a mother and the influence her own mother had on her parenting. a child with a rare disease.
That this rare disease journey may not be the one you planned, but it just may be the best-planned one for you. Neena reflects on the challenges and blessings of the rare disease journey.
The U.S. House Energy and Commerce Committee’s 21st Century Cures initiative is a bipartisan effort to help speed the development and delivery of new health care treatments and cures in America. So what does that mean for Rare Disease patients?
When we arrived in America a year ago, there was much we had to get used to. We had deferred dreams and packed memories up in bright suitcases, and moved toward a sparkling horizon. And although promises lay waiting to be unearthed, the greatest challenge was for my two little boys to feel at home in a new environment.
The role Neena’s father played in creating resilience and determination.
Exhausted and vulnerable, I was worn. Like a festering wound that refused to heal, I was powerless to stop my boys from being poked, prodded, X-rayed, scanned and investigated.