I am so glad that I took NDFS 405 in college...Nutrient Biochemistry.
We got home from the hospital with London on Friday, May 22nd. On Saturday afternoon we got a call from my pediatrician saying that one of the newborn screening tests came back abnormal for London and that we needed to go to Primary Children's that day and have the lab do another blood and urine test to confirm their findings.
On Memorial Day, my pediatrician called back to confirm that London's test was indeed positive and that she has a metabolic disorder called MCAD: Medium Chain Acyl-CoA Dehydrogenase Deficiency. She said that we needed to meet with the Division of Medical Genetics at the University of Utah, which we did the following day.
At the clinic, the nurse met with us first and weighed and measured London. We asked her how common MCAD was in babies and her response made us laugh. "Oh, it's pretty common. London will be our 4th so far this year." Right...so out of all the babies born in the whole state of Utah up until this point, London is the 4th?? Wow, that is common! (sense the sarcasm)
After that we met with a genetics counselor and a dietitian followed by the genetics doctor who were all extremely good at their jobs, very helpful and informative.
So, what is this MCAD?
Children with MCAD have an inactive enzyme called medium-chain acyl-Coenzyme A dehydrogenase (say that 3 times fast). This enzyme normally breaks down fats from food we eat, as well as fats already stored in the body. So in London, this enzyme doesn’t work very well.
Normally, when a person eats fats they are broken down and used for energy. Since London lacks this enzyme to break down fats completely, the body must use glucose (carbohydrates) 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, the body normally eventually will use 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. If there is no more glucose, then there can be problems.
How is MCAD treated?
London must avoid periods of fasting and seek immediate medical treatment if such episodes occur, such as during illness. The doctor gave us a letter which explains to any doctor, or ER, how London needs to be treated if she goes for long periods of time without eating, due to sickness, or if she is vomiting, has diarrhea, an infection, or fever of more than 101 degrees...which is IV dextrose.
Right now, London can go 4 hours between feedings, and that will gradually increase as her weight increases too. It would be great if she actually was sleeping for 4 hours at a time at night, but I'm happy if it's 3 hours at this point. She will never be able to fast for long periods of time (12 to 24 hours) without medical consequences for the rest of her life.
As she starts eating food, she will follow a heart-healthy, reduced-fat, complex carbohydrate food pattern. Nothing out of the ordinary, not fat-free, just lower in overall fat, a good diet for everyone to follow. Now that I have a child with dietary concerns makes me very grateful that I am a dietitian because the meal planning for London just won't be that big of a deal.
She will be supplemented with carnitine, an amino acid, for the rest of her life. It is safe and natural, similar to taking a daily vitamin, so there will be no side effects like if she had to take a drug. Carnitine helps the body produce some muscle energy and also helps to remove some breakdown products of fats that she may not be able to process as well without that functioning enzyme. A lot of endurance athletes will supplement with carnitine because it allows them to go much longer before “bonking.” (Jonathan is thinking of swiping her prescription)
I am grateful to live at a time when they have figured out this disorder and a test to diagnose it. The doctor talked about how this was one of the causes for SIDS not too long ago. Kids would go to bed and then have seizures and die at night because their glucose would drop so low. They would only be able to diagnose it during the autopsy.
Other questions we had:
Will she be predisposed to being fat or will she be able to lose weight if need be? Having MCAD does not mean that she will be fat. Genetics and lifestyle are the major components in determining size and will be the same for London. Jonathan asked if London would be able to have normal pregnancies and then be able to lose the weight gained from that? Dr. Longo was very good about explaining that MCAD is an issue with the Medium Chain fats…we also break down Short Chain fats and Long Chain fats as well, so when it comes to weight loss, those enzymes for the short and long chain (which work fine in London) will help the medium chain break down fat as well. As long as she is fueling her body appropriately (can’t ever do high protein, low carb-type diets) and exercising (again, something we should all do), then she will be just fine.
My brother's little boy, Graham, also was diagnosed with MCAD at birth. We had this genetics office going crazy because the odds that both Owen and I (both carriers of this gene) would also marry people that were carriers is really rare and then to have the odds (25% chance) where those genes match up and are expressed is also really rare. (We’re thinking of entering the lottery on a consistent basis with our odds...either that or we'll be struck by lightning.) Graham will be 2 in September and is a completely healthy, active boy. It’s been such a blessing to have had Owen and Tara already go through all of this and for us to know that London will be just fine.
As for that nutrient biochemistry class...it was really nice to listen to the doctor talk about the Kreb's cycle, MCTs, and the beta-oxidation of fat and actually understand. Thank you Dr. ....can't remember his name. (Davidson...thanks Emily!)
Isn't this crazy? Seriously.
No fear!
