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Feb. 4, 2020

TOPIC: Patient Stories, Patients & Members, Rare Disease Day

Gina and Gia’s Story in Honor of Rare Disease Day

Posted by Valaree DonFrancesco

My daughter Gia was diagnosed at birth with the rare disease sickle cell. Gia has had 5 bouts with pneumonia, many stays in ICU, and nine blood transfusions. Sickle cell disease (SCD) is a genetic blood disorder that causes normal red blood cells to be shaped like a “sickle,” preventing passage through the blood vessels to carry oxygen to organs and causing pain in the body and several other complications that can be fatal. For Gia, she has just begun to experience the painful affects of this disease. To see your toddler in pain and know there is nothing you can do to ease that pain leaves you feeling helpless. Moving from California to Nevada, we had one option for quality care in the state. This is something I did not feel was acceptable. I couldn’t take Gia around the corner to the beautiful hospital because we had already experienced the lack of knowledge there. We had no choice but to drive almost an hour away for quality treatment of her disease. I decided that no child especially mine should have to experience such a fate. There could come a time where traveling a long distance may not be possible to save her life. In 2018, I founded the first sickle cell disease foundation in Nevada. Our focus is on increasing Awareness, education, and working towards better healthcare for people affected with SCD. We also want to celebrate children, siblings, parents, and caregivers who are on this journey for the hard work and sacrifices they make to ensure their loved one receives the best care and support.

In June of 2019, Nevada passed its first sickle cell bill, and the effects of the bill are beginning to to be seen. Through the bill an SCD registry was created so we can get an accurate count of who in Nevada has SCD. Medicaid will now cover the supplements that people with SCD use in conjunction with prescription medication, and there has been one SCD patient already approved for one of the two new SCD medications. This year Dreamsickle Kids Foundation has expanded our mission to include support for all rare diseases in Nevada.

By using my voice and story along with Gia’s story, we are making sure that Nevada constantly hears about SCD and how it affects people living in this state and world wide. Just 2 years ago there was no SCD foundation. Now we have three, a sickle cell bill, a Rare Advisory Council, a new member of the Rare Congressional Caucus, and we are working on a sickle cell state action plan to address the health disparities and standard of care in Nevada for people with SCD. Our goal going forward is to make sure that all rare diseases in Nevada get the recognition and support of the state.