Wednesday, May 9, 2018
House is clean, kids had their bath, and getting ready for bed......it's now 10PM; the house is quiet and I finally have some alone time to myself. I stand there thinking if I should watch some television or do laundry. Instead I grab a glass, pour myself some red wine, pickup my laptop, and head to the kitchen table with a pen and notepad.
I am the mother to a child with a rare disease that currently lacks research. I know I am not alone when I say there are many parents of a rare disease kiddo who may sit in front of the computer searching for answers. You could be watching the latest show of Family Feud, but still have your computer in front of you searching for any new information out there on your child's condition. Your brain is like on treadmill mode wondering the who's, what's, why's and how's.
Rare diseases that lack research can be frustrating and overwhelming. You may find support groups on social media that help you connect with other parent's and their experiences, but there is still that lack of information to put the puzzle piece together. Whether you are searching for the prognosis, treatment plan, or symptoms, you tend to come across the same old articles with the same answer of the cause being unknown and not enough research is available. Having a family member or yourself diagnosed with a rare condition changes everything. With testing, appointments, surgeries, and traveling, medical conditions can cause anxiety and stress within the household having to adapt to this journey.
Visits to the Doctor can sometimes cause more frustration than hope. You then push for another opinion hoping the next Doctor has better answers. Sometimes it takes years before a person is properly diagnosed with their rare condition. Funding for research can be hard when more research is needed on the condition. Many individuals are struggling with no answers and it can make us feel like our condition is forgotten.
For now I will continue to raise awareness and bring families affected by my daughter's condition closer together so they feel they are not alone. I will continue to write to research institutes until my voice is heard. Awareness is key and sharing your story inspires others to help create a movement. Let's help make a difference for our rare community.
Blount's Disease Strong