Updated: May 14, 2019
May 1st was the official news of Dahlia’s diagnosis given to us. A day I will never forget and wish that I could.
The results that we had been waiting impatiently for the past 2 months, the results we were 75% sure would show us nothing, have given us a devastating answer.
Dahlia has a spontaneous mutation on her WDR45 gene, which results in Beta-propeller Protein-associated Neurodegeneration - in short this means her brain will accumulate iron deposits that cannot be expelled traditionally, and the build-up in her brain as she ages will cause her brain to slowly degenerate, her body and cognitive abilities will regress, and she'll develop dementia, dystonia, and features similar to Parkinson's. Any skills she will have developed in her young life will be lost.
Dahlia will always have developmental delays up to the regression stage. We do hope that she'll walk and maybe speak some, but we don't see a history of most patients doing much more than that.
There are only a total of 45 people on a latest science journal with this similar gene mutation, but many more are emerging; we believe the worldwide number to be around 400 documented. This is a very rare disease.
Today, we have to be thankful and hope to have the most time as possible with her, growing and thriving before the end chapter of this terrible disease takes over. We do have hope that the regression stage won’t begin until she’s at least 12, maybe as late as into the twenties. I can't imagine many worse nightmares than watching and celebrating your child growing and gaining some skills, knowing that sooner than later, she'll lose them, and eventually die earlier than she should. All affected become incompetent and wheelchair bound, but they can live into middle age with the right kind of care.
Branden and I are dumbfounded, stunned, and at a loss for how to move on. I cannot stop sobbing. I feel like I am living a nightmare. I have a hard time holding and looking into the eyes of my sweet innocent perfect little girl, knowing what her future holds. We now know we have a little girl who can't go to a normal school, get married, reproduce, and live a long happy healthy typical life.
As a family, we know we must pick up and move forward, and love her as much as possible and just take life as it comes to us, and we hope through time spent with the kids, each other, and therapy, that we get to that point soon.
Besides the fact that I wanted to give an update on Dahlia, I am also raising light on this disease because they ARE actively looking for a cure, and as you can guess, the biggest obstacle is attention to this need, and funding. Not many kids have this disorder. So I am sharing this in hopes that you can share this and more and more people can be privy to NBIA disorders and the need for research and finding a cure. I am now and forever an advocate for the NBIA Association, and I will do all that I can to find a cure in Dahlia's lifetime, and I ask you to please donate and share this, and if you can't donate, just please share and share and share this post. For Dahlia.
To our family, loved ones, friends, all of you: Thank you so much for being our support system; thanks for checking in on us, thanks for the all the prayers, good thoughts, kind words, and the shared tears. We know you feel pain too and we appreciate you being strong for us.
To my husband, by my side, I just have no words. Thank you for letting me literally collapse, and be all the way broken right now. I know you are broken too, but you are holding it together as much as you can for the both of us, and I see that, and I don't know if I could do this without you, and I love you so so much.