Rare Disease day 2021 Fundraiser
When Noella was diagnosed, we went through a roller coaster of emotions. While it was heartbreaking to realize that her life would look a lot different than we had imagined, it was also a breath of fresh air to have some answers to our questions.
While her diagnosis answered our question of what was causing her delays, it also left us with a lot more questions. What did it mean for her to have 18q deletion syndrome?
18q deletion syndrome is classified in the national organization for rare diseases, as it is a rare genetic disorder. They are continuously doing research and adding things to the database, in order to help other families as they learn of their diagnosis.
It’s common for people to ask us questions like “Will she walk?” Or “Will she talk?” Or just general questions about what her life is / will be like.
The reality is we don’t know. Not one child’s deletion is the same as the next. The levels of severity are so drastic, and even when the deletions are similar, every child responds differently and adapts differently. The database carries what it knows to be true of other kids with similar deletions and offers that knowledge to parents to help guide them. Every symptom or outcome isn’t true for every child, it’s simply offering what they know so that the parents can compare and stay aware.
Doctors can not get us definitive answers because they truly don’t know. Only the Lord knows what she is capable of and who she will be, and there is something extraordinary about that. There is so much peace to be found in her identity in Christ and that he designed her so uniquely and specifically.
After taking the time to process her diagnosis and what it means, we realized that it was a relief to have a name to call the thing that makes her different, and there was relief in knowing we could stop searching for answers after going through so much testing. We found peace in the Lord’s promise.
A year later we are so proud of how many obstacles she has overcome and continues to push through. We are in awe at the strides she’s made and her ability to defy the odds. It’s a slow process and a slow journey, but it is so beautiful and special in its very own way.
In honor of the past year we’ve spent on this journey, and in honor of our girl who fights every single day, we put together a fundraiser! We are raising awareness for families and loved ones of rare babies and raising funds to continue to sponsor research and grow the database of rare diseases, like 18q-.
Our prayer is that through this fundraiser we can both honor and support Noella and make a difference in the community of children, and adults, that battle rare diseases just like her. We hope that you’ll join us as we honor the first anniversary of her diagnosis and her bravery and adversity through it!
