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
