My life changed completely since my daughter Victoria was diagnosed with very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD), a type of long-chain fatty acid oxidation disorder (LC-FAOD). We learn day by day through caring for and about it. We live in Argentina, and so far, Victoria is the only one in our province with VLCAD. In Argentina, there are only a handful of us who are diagnosed with forms of LC-FAOD.

Victoria’s disease appeared at three years old and it took about a month for us to get a diagnosis. We had two consecutive hospitalizations. Her first crisis was after her birthday and we thought it was due to excitement because she saw people she had not seen in a long time. That’s when it started. The second time her creatine phosphokinase (CPK) level was so high that her pain was severe.

One of the most challenging things was accepting the diagnosis and that we were the only ones we knew of in our province. There wasn’t much information about VLCAD. We gradually learned about it with help from her doctors. Even now it is hard for me because they are still not trained about her dietary needs. I have to tell each doctor she sees when she’s hospitalized about her illness. Honestly, I get very stressed during each hospitalization. I just want them to place her on IV therapy so she can recover and go back home as quickly as possible.

Managing VLCAD

Victoria’s prominent symptoms are muscle aches and diarrhea, which weaken her and affect her metabolism. Everything is difficult at home, especially food. She can be defiant with food. She doesn’t eat anything with fat, but when her disease appeared late at three years old, she already knew how everything tasted, so she wants it. Luckily, I like to cook a lot and I always get her to try new things. I cook with canola oil for her and with sunflower oil for my other daughters. Her biggest temptation is things with chocolate, but I learned to make special cakes and desserts, and I even invented Easter eggs for her so she would feel good! Every day we learn something new about living with this disease.

Every six months we meet with other families. Doctors host special cooking workshops for us and we don’t feel so alone. I see my daughter’s little face when she plays with them and their nutritionists teach them. She is amazed when she sees other children eating and doing the same things as her. Since there are only a few of us, it is very difficult. That is why I love the idea of listening to others with VLCAD, not feeling strange, and knowing that we’re not alone.

Hope for the Future

My husband and I established a foundation for congenital diseases to advocate for families like ours because people like us go to hospitals and the doctors don’t always know what these diseases are. Because of this, it’s difficult to get everything: her medication, her tests. The foundation is named after her: VICTORIA. We are parents, not doctors, but we fight for our children so doctors will listen to us.

The fears are always there because she depends on my husband and me. I fear that she will always depend on me, but the truth is she won’t. I know it’s all in due time, but as a mother, I want to know what will happen.

I think that this has brought us purpose in this life, to help other people. I won’t lie, oftentimes every prick of the needle hurts us as much as it hurts them. We suffer at their side but what’s special about our community is that we experience and feel the same things: diets, fears, dreams, and love.

Written by Myriam, Victoria’s mother
Note: Content was originally provided in Spanish and translated to English

Myriam and Victoria

When you live with a rare disorder like an LC-FAOD, it can feel lonely. Check out this video from LC-FAOD community members around the world to hear their experiences and how they manage the condition day to day.

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

What is it?

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that impair the body’s metabolism from breaking down certain fats from food into energy.

What causes it?

The body typically uses glucose (sugar) for energy, but also gets energy from fat when it uses up available glucose. People with fatty acid oxidation disorders (FAOD) cannot efficiently use fat for energy.

What are some of the common symptoms?

  • Muscle rupture
  • Low blood sugar
  • Muscle weakness
  • Decreased muscle tone
  • Disease of the heart muscle

How many people have it?

It is estimated that 2,000 to 3,500 people are living with LC-FAOD in the U.S.1

Most common types of long-chain FAOD

  • Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency
  • Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
  • Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
  • Trifunctional Protein (TFP) Deficiency

Learn how Ultragenyx is moving LC-FAOD research forward with patients and families

Ultragenyx Opportunities to Participate

Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community. To learn more about Ultragenyx research, email [email protected].

11Ultragenyx Pharmaceutical Inc. Data on file. 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].