The story of Noah
My name is Noah Victoria and I am a soon to be 21 years old. I may look like a normal young adult woman on the outside, but the inside of my body is not. I was born with a very rare metabolic genetic disorder called Abetalipoproteinemia. It is autosomal recessive and there is no cure at this time. I was born premature and spent 2 months in the NICU. Due to my failure to thrive, I ended up having a G-tube placed which I still have currently.
Abetalipoproteinemia – The genetic defect is in the MTP-microsomal triglyceride transfer protein. I am missing this tiny little protein, and the importance is so big it is life changing. I cannot absorb fat, including fat solvable vitamins ( A-vision problems, D, K-bleeding problems, and E-nerve problems) that are crucial for a healthy body. I can only be on a very low to fat-free diet and it is quite challenging. I have abnormal red blood cells called acanthocytes. Eating too much fat will not only make me sick but will affect my liver. I have what is called a fatty liver. I take high doses of fat-soluble vitamins in hopes that my body can absorb some of it, I take 28 capsules of Vitamin E every day. This is unheard of in a healthy person.
I have been going to the National Institute of Health in Bethesda, MD every year since I was 2 years old. This is a difficult disorder to diagnose, but I was blessed to have a wonderful group of doctors that saved my life. In the past 4 years my health has been declining with new extremely debiting symptoms that may not be caused by my original diagnosis of ABL, so I am currently under the Undiagnosed program at NIH where they have found that I am more complicated then we had first thought, but I know that they will never give up on me. They truly care about the Rare disease community.
ABL and being undiagnosed is very rare and I do not have an organization or support group that can help me along my particular journey, but this is why I have decided to dedicate myself to helping in any way to promote awareness.
It has been difficult being a young adult and not being able to really participate in what most would consider a life but I try to go forward in reaching my dreams of being a writer and poet.
I have not stopped writing since I was 14 years old always grasping inspiration from all the good and bad of this battle, so if you ever wonder if there are unicorns here I am.