My daughter, Noah Maria, is 16 years old today. She was diagnosed with Abetalipoproteinemia when she was six months old. This is an autosomal recessive genetic disorder. The genetic defect is in the MTP (mircosomal triglyceride protein). This results in malabsorption of fat, which would also include the fat soluble vitamins A,D,K and E.
This can cause problems to her vision, including degeneration of the retina, a condition called retinitis pigmentosa and progressive neurological deterioration. She was extremely ill for the first year, actually spending the first two months of her life in the NICU.
She was labeled with “failure to thrive” and has had an NG tube since birth, which later changed to a G-tube until she was 15 years old. We have been going to Children’s Hospital in Washington, D.C. and NIH in Bestheda, MD since she was diagnosed. We were truly blessed to have had such a wonderful team of doctors.
There is no cure, but she is monitored very closely to check all her vitamin levels. This past summer, she began to have night blindness. We took her to the NIH, and her doctors got her on a higher dose of vitamin A and now her sight at night is back to normal.
Noah Maria stopped growing when she was 13 years old. She is a very tall 4’8” in every sense of the word. She was bullied and hurt physically when she was in fourth grade, so we took her out and began to home school her. She has this huge personality and leaves an everlasting impression on everyone she meets. As her mother, she has taught me the true meaning of FAITH and COURAGE.
Two years ago, she began to read poems from Emily Dickinson and she found her passion in writing. NIH Children’s Inn published an article about her and published one of her poems online.
These have been some difficult years– even after diagnosis– because this is a very rare disease and we do not have any official support group or organization that can help us along our long journey. This is why my daughter and I have decided to dedicate ourselves to helping in any way to promote awareness. She wrote in her journal when she was 10 years old and said If God would give me one wish, I would not ask Him to take this disorder away because then I would not be who I am today!