Tuesday, February 28, 2017

Rare Disease Day

February 28th is Rare Disease Day. This means there are some of us that can help spread awareness and educate about certain disease and disorders that effect our family.  There are a few in our family, apparently our genes don't like us. Today I am going to talk about Piglet and her MCADD. MCADD stands for Medium chain acyl-CoA dehydrogenase deficiency. If you would like to read Piglet's story click HERE. Here are some facts about MCADD:

  • MCADD is a metabolic disorder. MCADD is a disorder in which your body is unable to break down fats for energy. Normally, fat is broken down into energy by "enzymes." This energy keeps your body running whenever it runs out of its main source of energy, a sugar called glucose. In MCADD,  a very important enzyme for breaking down fat, the medium chain acyl coA dehydrogenase enzyme is missing or doesn't work correctly. This means that people with MCADD can't break down fat for energy when they run out of glucose. 
  • Before Newborn Screening started to screen for MCADD a lot of babies died of "SIDS." We are forever grateful for Newborn Screening saving Piglet's life. And all it is, is a little heel prick at 24 hours old. What a difference a little blood draw can make
  • Since MCADD was discovered the percentage of SIDS babies has dropped DRASTICALLY! As much as 85-90%
  • Most people with MCADD should not go more than 4 hours during the day without fuel, aka food and drink
  • Babies with MCADD are not allowed to sleep through the night like an average baby. They must eat more often, depending on the age most get woken up to eat every 2-4 hours. Once they turn 1, many of the MCADD specialists have the baby add corn starch to their bedtime bottle which allows them to sleep longer stretches. The cornstarch is a slow release sugar so keep the baby's fuel going longer
  • Peope with MCADD have a low fat, high carb diet. Carbohydrates give the body many types of sugar that can be used as energy
  • Since people with MCADD are missing the medium chain enzyme, they cannot break down medium chain fats
  • If people with MCADD eat too much fat in their diet or eat medium chain fats, it can start to collect on their organs and over time it can it can cause fatty organs or organ failure 
  • Many with MCADD take L-carnitine daily. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes
  • About one in every 15,000 babies in the United States is born with MCADD
  • It is common for MCADD children to have a lot of leg pain once they are old enough to be more active. Once Piglet was old enough to talk she would tell us her legs hurt behind her knees. Its always been behind the knees for her but with others it can be general leg pain. Sometimes its also before they get sick, for her its just when she is active. In the winter its usually once a week, in the summer when she is extra active its every day
  • MCADD can cause a metabolic crisis. A metabolic crisis may start with symptoms of fever, diarrhea, and vomiting. This is usually followed by low blood sugar. If a metabolic crisis is not treated, it can lead to breathing problems, coma, or death. Treatment is going to the ER/Hospital for a D10 IV until the sickness has passed and the person is able to eat and drink enough again 
  •  Sometimes a child will become very moody or throw tantrums when they are in need of fuel. Thankfully people that are educated about MCADD know to feed the child and get some fuel in them. 
  • Most people with MCADD are like the average person as long as they eat and drink regularly and go into the hospital for their D10 IV when they become sick