You will never forget the day you are told your child has a one in a million rare disorder: the overwhelming fear of isolation, fear of what the future holds for your sweet little one, and the desperation to find a group to connect with.
When our daughter was six years old, our world was rocked by her diagnosis with Hermansky-Pudlak syndrome. However, we were so fortunate to find an organization that gave us a wealth of knowledge, a group to call our family and an outlet of HOPE for one day finding a cure! The HPS Network changed our lives!
April 6th was HPS Awareness Day! Hermansky-Pudlak Syndrome (HPS) is an inherited rare disorder, affecting multiple organs in the body. It’s characterized by albinism (causing lack of pigment and visual impairment), legal blindness and sensitivity to light, bleeding/platelet dysfunction, colitis (inflammation and bleeding in the digestive track) and pulmonary fibrosis, which causes a patient’s lungs to scar and fail them. Patients will require a lung transplant. As of now, there’s no cure.
This does not define us. However, our every day decisions and actions are dictated by Hermansky-Pudlak syndrome- the visual needs, and safety and health concerns that come with the disorder.
Our family now has two children with HPS. While we often have people say they are sorry to hear this, I reply by saying “I’m not.”Our family embraces this challenge and we do everything we can to advocate for and with our children. I feel it’s so important to have a positive attitude and teach our children to be proud of who they are! They teach us what true strength is.
I will never forget the amazing moment my oldest daughter came into the room and saw her brand new baby sister. The first words out of her mouth were “she’s just like me” and “I prayed she would be like me.”
We are so lucky to have The HPS Network. They work endlessly to provide support, awareness, medical outreach and education as well as their intricate involvement in research. With this network we have a home and hope for our children’s future!
You can support the movement by posting on social media using the tags: #HPSawarenessday #CureHPS #PulmonaryFibrosis and #DaretobeRare.
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