written by Mina Frannea, Today’s Mama
Each year on Rare Disease Day, participants from around the world advocate for those who are affected by rare diseases, bringing attention to the need for improved access to treatment and for higher standards in diagnosis and care of patients. The observance of Rare Disease Day falls on the last day of February, this year on Leap Day, February 29th.
For 2012, the theme for Rare Disease Day is “Solidarity” and the slogan is “Rare But Strong Together”. In the United States, more than 600 patient organizations, government agencies, educational institutions, clinical centers, and companies have signed on as Rare Disease Day Partners. There will be events and activities hosted all over the country to bring awareness to Rare Disease Day, including a few featured events. You can find out more about these and other ways you can help on the Rare Disease Day US website.
When I wrote about Rare Disease Day last year, I mentioned a little girl named Hannah who had been diagnosed with Neuronopathic Gaucher’s Disease type 2 or type 3 when she was just 5 months old.
This very rare disease impacted Hannah’s physical and neurological development as well as her life expectancy. Hannah’s parents, Carrie and Robert, did everything they could to help their daughter. They fought hard for their baby girl’s life, but little Hannah’s body finally gave out and she passed on December 4, 2011. Hannah was just 3 years old.
Hannah touched so many people in her short life. I was one of the hundreds of people who followed Hannah’s blog and who loved her beautiful smile. With each blog post, we gained an understanding of what Hannah was experiencing and what Carrie and Robert had to do to help their daughter through medical emergencies such as putting her tracheotomy tube back in when she pulled it out.
Followers of Hannah’s blog also learned about the struggles that Carrie and Robert faced with finding professionals who could help their daughter, arranging for home nursing and various medical equipment, and simply trying to cope with raising a child who had extraordinary special needs.
Carrie and Robert have two other children, Ethan and Abby, whose needs they also needed to meet. We learned how tremendously loving Ethan and Abby were with their baby sister and how much she loved them in return. Although they didn’t complain, Carrie realizes how much having a “medically fragile sister” affected their lives on a daily basis.
While she was up caring for her daughter’s needs every night, Carrie spent hours researching Gaucher’s Disease, looking for information on available treatments, physicians who were familiar with the disease and reaching out to other families whose lives had been impacted by Gaucher’s. Through Hannah’s experience, we got to know out about other young children living with this horrible disease.
On the day that Hannah passed away, my heart broke, along with everyone else’s who had been touched by this special little girl. I cried for Hannah. I cried for her mamma and her daddy. And, I also cried for Hannah’s brother and sister who loved her so very much, and whose lives had also been impacted by the Gaucher’s monster.
Because Carrie and Robert understand first hand what it is like to have your family impacted by a rare disease and to honor Hannah’s memory, they have established the Little Miss Hannah Foundation (LMFH). LMHF’s mission is to work with families who have young children with life-limiting rare diseases, undiagnosed complex medical needs, and children who have been placed in hospice or palliative care. The foundation strives to give parents the necessary tools to empower them to meet their child’s unique medical and lifestyle needs, as well as to provide support resources and special attention for siblings of children with rare disease. To learn more about Little Miss Hannah’s legacy, visit: http://littlemisshannah.org/.
While Rare Disease Day helps bring attention to the impact of rare disease on families like Hannah’s all over the world, this important iniative needs support throughout the year.
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