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!

3 thoughts on “Abetalipoproteinemia, Noah Says, has Made Her Who She is Today”

  1. Ann Marie Bucchino says:

    My grandson Louis was born 1/2/2016. He was diagnosed with failure to thrive and malabsorption in early March and after spending 2 weeks in the hospital at Children’s Hospital of the King’s Daughters in Norfolk, VA, he was diagnosed with abetalipoproteinemia.
    Numerous formulas were tried until they found one he could tolerate, he’s been on vitamin therapy for the past three and a half months and now weighs 10 pounds at 7 months old. He’s still quite a bit behind on the growth chart but he is headed in the right direction. We are trying to find out as much as we can about his condition, making sure that he is getting the right dose of vitamins, physical therapy to regain the muscle tone that was lost, blood tests, organ scans, so much can be impacted yet so much is unknown because the Syndrome is so rare. We wish there was somewhere we could go to share information with others who have gone before us and who will, unfortunately experience this after us. How can we help?

  2. Inge says:

    Dear mum of Noah Maria, my name is Inge. I’m 21 and have abetalipoproteinemia myself. I’m glad to find this story, because there is not all that much information about this disease, so a lot is trail and error. I’m doing really good, but I too have had some problems with my eyesight that disappeared as soon as we hightened the dosis of vitamine A. I never had a g-tube after the doctors diagnosed me, only a fat-free diet and vitamine E, A, D and K supplements along with low dosis of special MCT fat. I can tell you that that works AMAZING. My growth has been normal ever since the diagnose after which the treatment started, and I know 2 others born after me with abtelipoproteinemia who are also doing good with this same treatment. I’m now studing to be a nurse because having this disease inspired me to want to help others. If you and Noah have any questions for me or would just like to have contact with someone else who understands everything you’re going through, I would be happy to talk to you two! God bless you both.

  3. Ido says:

    I have son he have abetalipoproteinemia..
    Im will be happy to talk with you
    We have a lot of questions about that…
    I will be happy if you can a send me a message to my email
    Soory about my English my wife know to talk better …
    Tanks a lot

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