I-cell it is…

The diagnosis has been confirmed; my little Brielle has Mucolipidosis II. It took us almost a year and half to figure it out, but I finally have an answer to all the questions that have been running through my head since the day she was born. Was it a shocker? Not really. I had a strong feeling this is what she was facing the day I started digging my claws into this horrible disease a few months back when I first heard of it. Looking at pictures of kiddos affected by this disease and comparing her to them, the characteristics were just too obvious. Naturally each child with this disease is affected differently, depending on the severity of each child due to the mutation of the gene and other affects of the disease. I could not believe my eyes when I was looking at these kids, I just could not believe a disease this terrible could exist on this earth. I guess at the moment I just could not believe that again my very own child could have a disease that would take them away from me far too soon. What are the chances? 1 in 640,000. So rare that there is not another known case in Arizona besides my little Brielle. I had never heard of this disease until it was mentioned by our geneticist. 

How do i feel? How am i doing? i am sad, disappointed, hopeless, and fearful. I am fearful for what her future holds. It’s unfair, very unfair. But who is to blame? No one. It’s a f***** up gene that was passed down to through generations. Both her parents are carriers, and 25% of our children had the chance of being affected, and it happened to be my precious Brielle. Am I angry? Of course, I am angry. She has this disease and there is absolutely nothing I can do to cure my daughter, nothing anyone can do. This disease has no treatment or cure. Before going to our appointment I had a talk with my Bri, I promised her that no matter the diagnosis, the challenges she will have to face, or the time she will be on this earth, I will be right by her side every step of the way; she will never be alone, I will forever be there to console her, I will help her fight until the end. I also promised her that I will try my best to give her a normal life, we will continue to be the strong, happy, optimistic family that we are and we will make the best out of her life.

Happy 1 ½ Birthday my sweet little BriBri!! ...big 18 in her world!

Here are some helpful links if you are interested in knowing more about this disease:

http://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta

http://www.ncbi.nlm.nih.gov/books/NBK1828/

http://www.ismrd.org/the_diseases/mucolipidosis_ii

https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/304/viewAbstract