In the U.S., any disease affecting fewer than 200,000 people is considered rare. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases.
Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.
(From RareDiseaseDay.US, please visit there site for more information: RareDiseaseDay.US)
Epidermolysis Bullosa is only one of the many disorders affecting the nearly 30 million people suffering from a “rare” condition. Another one of those very rare conditions is Harlequin Ichthyosis. According to the Foundation for Ichthyosis and Related Skin Types,
Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. The prefix “ichthy” is taken from the Greek root for the word fish. Each year, more than 16,000 babies are born with some form of ichthyosis. Harlequin ichthyosis is an extremely rare form of ichthyosis and is the most severe.
Newborn children affected with Harlequin ichthyosis are covered with plates of thick skin that crack and split apart. The thick skin plates can pull at and distort the infant’s facial features. The tightness of the skin pulls around the eyes and mouth, forcing the eyelids and lips to turn inside out, revealing the red inner linings. The chest and abdomen of the infant may be severely restricted by the tightness of the skin, making eating and breathing difficult. The hands and feet may be small, swollen, and partially flexed. The ears may appear to be misshapen or missing, but are really fused to the head by the thick skin. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. (You can find out more by visiting their site: www.firstskinfoundation.org)
Through the wonders of social media, I have come to know a sweet little girl named Brenna. Her mom Courtney says:
“When our daughter Brenna was born and diagnosed with Harlequin Ichthyosis, I was unaware of all of the health risks that having a skin condition posed. I simply thought she would look different. I very soon discovered how severe and life-altering this disease is.
Harlequin affects our family every day – from the daily baths that require extra time in the tub to soak and exfoliate excess skin, to applying Aquaphor up to 6 times a day covering Brenna’s entire body, to nutritional concerns (making sure she’s getting enough calories and gaining weight) to minimizing infection risk through hand-washing and liberally using a bleach solution when cleaning.
I began my blog three days after Brenna was born to both update family and friends about her condition and to share about Harlequin and all that it entails. But that soon led to advocating, not only medically for Brenna, but for all who are different. Sharing our story has not been without criticism and judgment…but it is worth it every time our family is out in public and we get stopped by strangers exclaiming over meeting Brenna – sometimes with tears in their eyes – instead of the alternative: pointing and staring and whispering about her unique physical appearance.
Society tells us every day that Brenna is not perfect or beautiful. But for those who know her, she is changing the perspective of beauty with all that she has accomplished with strength and determination. We feel blessed beyond measure for all that she has opened our eyes to and for the love she has brought to our lives.”
Brenna’s journey is one that will inspire and move you, you will fall in love with her, there is no doubt. Take some time today to read more about this very special little girl who is such a blessing to those who have come to know her story. You can find out more at Courtney’s Blog Blessed by Brenna or by visiting Brenna’s Facebook Page
Please help raise awareness and support Rare Disease Day, by sharing this blog to help educate others. And as always please support research to find cures for these disorders. You can find out more about Harlequin Ichthyosis or the other 28 types of Ichthyosis by visiting