Today is International Gaucher Day and October is Gaucher Awareness Month! I sure as heck wasn't aware of this rare genetic disease until the pediatrician called us at 5pm on Tuesday, February 19th, 2019. I was holding a tiny 6 week old baby and my world shattered. The following months were filled with the greatest fear I have ever experienced. Putting Olivia through countless tests and appointments all while we were still trying to master breastfeeding was overwhelming to say the least. We made the choice to tell family and a few close friends, but we didn't want to announce it because so much was still unknown. We both gave her a variant of the disease, but the one I have apparently hasn't been seen in years. It is a "Variant of Unknown Significance" and there is little research to give us insight into her future. All we can do is wait and see if she develops neurological symptoms on top of her current anemia and enlarged spleen. Since her disease started presenting itself this March she has had even more tests, a port surgery during the height of a pandemic, and started Enzyme Replacement Therapy which she will need for the rest of her life. I have always been a realist, but as a Mom I want to be an optimist. I want there to be better research, I want our questions answered, I want her to live a normal childhood, I want to take her pain away, I want her to have the world.
https://www.gaucherdisease.org/ is a resource I used a lot to learn more about her disease and I would like to kick off Gaucher Awareness Month by getting donations to the National Gaucher Foundation. In addition to education and research, this foundation will help provide financial assistance for people with Gaucher disease and their families. Olivia will meet her out-of-pocket max every January for the rest of her life, but without insurance I can't even imagine how we would be able to get her the treatment she needs to survive. The enzyme dose is weight-based, right now it's $10k per infusion and she only weighs 27lbs!
Thank you in advance to anyone willing to donate! 🦓