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FAOD diagnosis - Mama Jette reports her story
My son Max is 12 years old and suffers from a very rare metabolic disease called MTP deficiency. Max was born 4 weeks premature. On the night of his birth, he was already restless and suffered from hypoglycemia (low blood sugar). Newborn screening showed abnormalities...
Max Profile
Name: Max
Country: Germany
Diagnosis: MTP Deficit
On Diet with MCTs since: 2011
Favorite Dish: Pasta with tomato sauce
The diagnosis
These dysfunctions in the oxidation of long fatty acid chains were detected in newborn screening from 2005. Max was born four weeks earlier than expected. Already on the night of his birth he became restless and suffered from hypoglycemia. Neonatal screening revealed abnormalities, and after further testing, a rare genetic defect emerged! A dysfunction in fatty acid metabolism! We were shocked, helpless and initially completely overwhelmed.... Max was immediately transferred to neonatology. Since he was unable to drink on his own, he was given nutrition through a nasogastric tube. Unfortunately, he could not take breast milk, as a low-fat diet was an integral part of the treatment, and still is today. We were shocked!
Max finally returns home
Because in 2011 the disease was not as well known as it is today and there was little information available, we were very afraid. After initial discussions with the metabolism clinic and the dietary counselor, we looked for information on the Internet (as much as was available). Max was hospitalized for 3 weeks. He finally came home!!! Now we had to deal with "bottled meals" with a special milk. This was a low-fat liquid feed with carbohydrates, vitamins, low LCT and high MCT content, and essential fatty acids. Every 3 hours, also at night--then every 4 hours, also at night. By the fourth year of age, we were able to extend the night fasting period to 8 hours.
The diet includes strictly low-fat, carbohydrate-rich, MCT-modified foods and dishes with added essential fatty acids. Fasting times must be observed, and in case of illness, gastrointestinal infections and excessive physical exertion, there is a risk of metabolic decompensation.
Experience is the best teacher
After 12 years of experience, we feel confident in managing illness and diet, despite recurrent ups and downs, hospitalizations due to decompensation, and new related illnesses. Max is well, rarely gets sick, and manages his illness and diet with great autonomy.
We have had the support of our medical team and the clinic dietitian. We are grateful for MCT products and cook and bake as much as we can. I use 83% MCT Margarine for baking cakes and cookies, and also for roasting meat and poultry. MCT 100% oil before sports or at lunch. At first, after diagnosis, one is naturally puzzled and tries to get as much information as possible. In my opinion, it should be standard to provide involved families with psychological support from the very beginning. In addition, I can testify how extremely important it is to exchange experiences with other parents of affected children and I owe a lot to their help!!!
As Max grows, we realize how independent he is. We still have some difficulty accepting him and letting him go.
Yours truly Jette (Max's mom)
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Cooking tips with MCT fats
The most important information summarized briefly:
- Half a teaspoon of MCT oil is approximately 1 g/ml.
- One teaspoon of MCT oil is approximately 3 g/ml.
- One tablespoon of MCT oil is approximately 6 g/ml.
- MCT margarine is ideal for spreading on bread as well as for sautéing and baking.
- MCT oil can be used for salad preparation and for gentle frying at low temperatures (approximately 150°C).
- Do not keep MCT fats warm for too long, heat them too hot, or reheat them (in the microwave) as this could result in a bitter taste.
Principles of the disturbances of energy production from long-chain fatty acids
The term "metabolism" encompasses all processes necessary for building the body, maintaining bodily functions, and obtaining energy. To fulfill these tasks, the food ingested or reserves stored in the body are processed in many carefully coordinated steps. These steps are facilitated by enzymes and transporters.