Spencer was born with a genetic disorder called MCADD. The following article explains what it is and how to treat it. This is why I am so stressed out during times of illness. I am typically up through the night making sure Spencer has at least 2 oz of juice in his body per hour so we can prevent having to go to the hospital for an IV.
This is also the reason I am up at night giving Spencer a snack.
Here is a brief explanation of his disorder
Medium ChainACYL-CoADehydrogenaseDeficiency: MCAD Medium-chain acyl-CoA dehydrogenase deficiency (MCAD: pronounced me-dee-yum chain a-sil-ko-a deehi-dro-gen-aze) is an inherited disorder. It is estimatedthat 1 in 5,000-12,000 infants are born with this disorder. Children with MCAD have an inactive enzyme called medium-chain acyl-Coenzyme A dehydrogenase. Enzymes are substances in the body which enable chemical reactions to occur. The enzyme involved in MCAD deficiency normally breaks down fats from food we eat, as well as fats already stored in the body.
In children with MCAD, this enzyme does not work very well. Normally, when a person eats fats they are broken down and used for energy. Since children with MCAD lack the enzyme to break down fats completely, the body must use glucose as an alternate energy source. Glucose is a type of sugar in the blood, and although it is a good source of energy, there is a limited supply available. Once the glucose in the body has been used up, hypoglycemia (low blood sugar) can occur. When a person fasts (doesn't eat for a while), the body normally uses stored fat for energy. Since children with MCAD are unable to change stored fat into energy the body can use, the body chooses glucose again as an alternative energy source. Children with MCAD must avoid periods of fasting and seek immediate medical treatment if such episodes occur (such as during illness).
Treatment for MCAD also includes dietary modification and supplementation. Fats from foods or body stores are normally broken down to become sources of energy. Because the enzyme called medium chain acyl-CoA dehydrogenase does not work properly, this breakdown process does not occur.
Symptoms of MCAD
Many children with MCAD are not diagnosed for weeks, months, or even years. The initial symptoms experienced are variable. However, initial symptoms usually occur during infancy or early childhood, and often the first symptomatic episode occurs after a period of fasting. Symptoms may include extreme tiredness, skin clamminess, behavior changes, irritability, fever, diarrhea, and vomiting. The affected person may or may not have low blood sugar. If untreated, coma and even death could occur. People with MCAD are normal between episodes of crisis, which are often provoked by period sof fasting without carbohydrate/glucose supplementation. With proper treatment, children with MCAD can expect to live typical, healthy lives, with typical growth and development. It is very important to inform everyone involved in your child's medical care that he/she has MCAD, andthat he/she receives prompt medical attention during periods of fasting
MCAD Treatment
There are four parts to successful treatment of MCAD:1. Avoidance of fasting for more than 4-6 hours. When an infant or young child does not eat for more than 4-6 hours, his or her body naturally turns to stored fats for energy. Your child with MCAD lacks the enzyme which converts stored fats into energy. Avoiding fasting has proven to be an effective means of treating MCAD. If your child with MCAD deficiency evenly spaces meals to avoid long periods of fasting, the body will have plenty of energy from food, and will not have to rely on other sources of stored energy. Ask your health provider what is appropriate for your child. A reduced fat, complex carbohydrate food pattern. It should be noted that this is not a fat-free food pattern, but simply low in fats. The body needs smallamounts of fat to function properly, and fats should never be completely eliminated from the food pattern. Carbohydrates are the best possible source of energy.They contain many forms of sugar that the body canbreak down into fuel. If the body can use sugar from food for energy, it won't have to use its precious supplyof stored glucose.
Every child gets sick from time to time. It may be the flu, a cold, an infection, or something more severe. Regardless of the illness, the body uses extra energy in an effort to heal itself. Normally, the body will turn to stored fats for that energy. Again, children with MCAD are unable to use stored fats. Risks after illness and/or fasting include hospitalization, long-term disability and death. Always call your child's health provider when your child is vomiting, has diarrhea, has an infection, or has a fever of more than 101 degrees Fahrenheit.
Nutrition and Dietary Guidelines
A food pattern with reduced fat intake is recommended for a child with MCAD. Foods that are high in complex carbohydrates are good sources of energy for people with MCAD.
Because your child will be limiting certain foods, the food pattern may not always have enough vitamins and minerals to meet your child's growing needs. A general multi-vitamin which also includes calcium and iron is essential.
Medium-chain acyl-CoA dehydrogenase deficiencydoes not go away.
Treatment will be required throughout life, although slight changes may be needed as growth and development needs change. Some children with MCAD remain well and free of illness for years. This does not mean the disorder has gone away. These children still have MCAD, and there is still a risk of a serious and potentially fatal illness if treatment is not followed. Because your child with MCAD has a life long condition that could harm growth and development, your child should be closely followed by a health provider and a nutritionist. Medical visits offer many advantages for your child, including developmental, physical, nutritional, and neurological assessments. The medical team will want to learn how your child is getting along with parents, siblings, and friends, and work with you to solve problems. The goal is to help your child develop skills needed to take responsibility for managing his or her own condition. The staff knows this is not an easy task,and wants to provide as much support as they can to you and your family.
I would be happy to answer any questions.
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