Elle's appointment with the specialist

 Today we had our appointment with Elle's metabolic specialist.

When Elle was born they performed a newborn screening. The screening is done by the state and it tests for several genetic disorders that might otherwise go unnoticed.

Elle initially tested positive for a deficiency.

After two more yucky rounds of lab work we got our final results today.

To sum up our appointment here is a little something from Doug...

We had a doctor's appointment today for Elle which confirmed the pre-screening results that she has MCAD deficiency.  Now before you start Googling what that is, let me just say that it is completely manageable and she it going to be a perfectly normal girl, able to do 99% of what everyone else can do.  In summation, her body cannot breakdown certain fats very well and in times of fasting and major illness, she can have some problems like vomiting, nausea, seizures, etc.  Basically, during these times, our bodies would burn off glucose first (which her body will too) and then burn the fat for extra energy.  Elle cannot burn the fat rapidly so the body will look for more glucose for energy.

This genetic deficiency is very manageable and she won't even require a special diet.  She will, however, need to eat more frequently (especially as a newborn).  We have been told just to overreact when she gets sick and pay extra special attention to her surroundings such as kids at school who may have more than just a cold.  She is currently taking a medication twice a day which replaces the compound in her body that she cannot produce on her own which we have been told will help.

Of the many questions I asked, the one that I couldn't find an answer for, was about exercise.  I wondered if this will have any negative effect on her participating in sports.  The doctor seemed completely confident that she could compete in all recreation level sports but might want to stay away from extreme fitness levels (Olympic training, marathons maybe, anything that Uncle Ryan and Auntie Meg participate in, etc.).  Keeping her hydrated and full of the right number of calories would be his only advice during exercise and that's what any parent would do for their kid.  Again, if we just keep doing the basic things in life, there should be no problems.  We just need to look out for her getting sick and making sure she is eating.

If you want some more information, please look at the website below.  Most of the other websites may have some misinformation so I wouldn't trust them.

http://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency

 Here is our little Elle after her long day at Children's.

She was just as sweet as can be and was such a good girl.

We are so proud of what a strong little thing she is.