June's Spotlight: MCADD

Since July 2010, we have been living with a rare genetic metabolic disorder called MCADD-Medium-chain Acyl-CoA Dehydrogenase Deficiency.  It belongs to a larger family of Fatty Acid Oxidation disorders.  MCADD, specifically for us, was diagnosed through newborn screening, and was only very recently included in Utah’s since 2006.  A follow-up diagnosis/confirmatory diagnosis occur through a blood test with an acyl-carnitine profile. 

In the case of MCADD, our two kids who have it cannot digest or process, at a cellular level, medium chain fats.  Usually our cell’s mitochondria transport the different lengths of fats through the cell wall and process them for energy, especially during a state of fasting.  Imagine a long chain of pearls.  It starts off as a very long chain, but when you cut off a couple, it becomes a long chain.  Cut off a couple more, and it becomes a medium chain.  Cut off some more, and it becomes a short chain.  That’s the same way our bodies break down fats.  When someone with MCADD tries to break down fats, they only get halfway, or up to the medium chain fats, before their body says, “Wait.  This isn’t energy anymore!” and either eliminates the rest or stores it.  Some patients use a supplemental enzyme prescription called carnitine to help rid the body of the broken-down very long and long chain fats so they don’t stay in the body and turn toxic

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MCADD can turn deadly quickly if a person who has the mutation fasts.  Whether it is from a surgical wait period or chosen event or period of illness like a stomach bug, they must seek medical attention at the E.R. and receive an IV with glucose in addition to potassium and saline to help supplement any sugar stores that may have been exhausted due to those adverse conditions.  Failure to seek medical attention in a timely manner can lead to heart attack or stroke or even death.

One of the first questions the geneticists at Primary Children’s was if my husband and I were first cousins!  Apparently, it’s more common in those with Northern European ancestry/heritage, but that doesn’t mean it doesn’t occur in those with other types of ancestries.

Before the medical community became aware of MCADD, 1 in 5 babies who had it died before diagnosis.  Many of those deaths were attributed to SIDS.

MCADD is a livable medical condition, and for that we’re grateful.  It does contribute to stress, however, because of illnesses that can and do go around, and needing a constant watchful eye on our children’s energy intake and expenditure.  There are very few deaths from MCADD as long as treatment is sought as soon as possible in the event of an illness or situation that leads to fasting, vomiting, and/or diarrhea.  Zofran has become a staple in our house. 

For more information about MCADD and other Fatty Acid Oxidation (F.O.D.) disorders, visit www.fodsupport.org This is a great place to connect with families who have members with an FOD or bounce ideas off if you’re looking for a diagnosis.  We see a geneticist at the metabolic clinic, but other families in the FOD support group see other specialists or even family practice doctors or pediatricians for regular, ongoing care.

Also, a new resource has recently come to fruition from the hard work of Dr. Mark Korson and his colleagues in the form of the Genetic Metabolic Center for Education.  Here is a little bit about the GMCE: 

www.geneticmetabolic.com

What is GMCE?

The Genetic Metabolic Center for Education (GMCE) is a new company created to provide educational solutions and consultative services to improve the clinical diagnosis and management of patients with metabolic disease. These products will be made available through technologically-advanced communications and distance learning.

Background on treatment of Genetic Metabolic/Inborn Diseases:

Physicians who care for metabolic patients are frequently called upon by medical professionals who need help in making a diagnosis, managing the care of a patient, or developing an appropriate treatment plan for a patient under their care. With advancements in metabolic screening for newborns, the number of patients who need a diagnosis and treatment is growing steadily, yet the fundamental problem remains that there are simply not enough physicians who specialize in metabolic disorders to adequately care for them. Many physicians have not been formally trained in this area of specialized medicine and metabolic clinics are being overwhelmed by this growing patient population.

 How we can help:

The Genetic Metabolic Center for Education was created to help address this critical issue by providing educational and consultative resources to better train physicians, specialists, and dietitians enabling them to quickly and properly diagnose their patients, provide improved care, and help their patients better manage their disease.

(I am not affiliated in any way with the GMCE, but I just wanted to spread the word because living with an inborn error of metabolism in two of my children can be scary enough and I hope it can help those looking for a diagnosis.)

For more information on MCADD or to connect with another local mom, you can reach Rachel at richie_rach@hotmail.com