Thursday, January 26, 2012

Metabolic Geneticist

Yesterday was our long-awaited appointment with the metabolic geneticist.  Our Neurologist wanted us to see her because he thinks that Dominic has some sort of mitochondrial DNA abnormality, and she is the expert in that field.  She said that normally kids who have some sort of metabolic or mitochondrial DNA problem do not have any outward physical manifestations.  Dominic on the other hand does, with his dysmorphic features.  I asked her about the syndrome I found the other night and she quickly shot that down.  Phew.

After working on his case, she was stumped.  He tends to do that to doctors.  His blood work that would point either to or away from a metabolic or mitochondrial disorder is all over the charts.  He'll have two that suggest it, then a normal one, then two going the other way.  She said she feels convinced that his problem lie in his genes, not in the mitochondria.  She did say for us to go ahead and start a mitochondrial health cocktail consisting of two supplements that these organelles need to work, and that would be our kind of last step in seeing if there is any improvement.

OK, let me backtrack a bit.  Get your high school science hats on for a sec.  The mitochondria are the largest organelles in the cell.  Their job is to take chemicals from broken down food and turn it into energy the body can use, or ATP.  In order for this to happen though, the mitochondria need certain substances to work.  This is why we are going to try him on the supplements for a month.  If anything changes, we know the mitochondria are affected, if not then we stop there with the worry over the mitochondria.

She said there are more test to be done involving mitochondria but almost all of the time these tests are inconclusive, resulting in a long, expensive session of chasing your tail.  She said she is more than happy to proceed with these if we want but her clinical gut says he is in fact "genetic," not "metabolic."  She is interested to look up which genes carry some of his problems (in particular the sucrase enzyme) and perhaps have a more in depth study done on the genes surrounding that one.  She thinks maybe a chunk of genes just got knocked out during development, resulting in this modge podge of problems that don't fit nicely into any one diagnosis or syndrome.

All in all, it was a good visit.  She spent about 45 minutes with us, was so kind and patient, and even walked us to the check out desk when we were done.  My friend brings her son to her and she always told me how amazing she was.  She was right, I love her.

Mike and I have decided that while it would be nice to know what Dominic's syndrome is, it doesn't really matter.  It only matters in as much as a possible treatment to curve the delayed mylenation goes.  The only other thing a name is good for is opening up doors to certain organizations.  For instance a child with Down Syndrome can qualify for certain programs simply because of the diagnosis.  Different foundations cater to different conditions.  However, we do not want to continue to put him through test after test, biopsy after biopsy for a name.  The name may do more harm than not anyway because then the Google monster will consume me and perhaps my hopes might be squashed.

Under Her Mantle,

Happy man!

Our date to the hospital Starbucks!

He loves him some Daddy time!


  1. So blessed by D! Love you guys! Let me know I I can help get you plugged in with any new resources. He is beautiful! Love his smiles and gorgeous hair!

    Heather Anderson

    1. Heather, Thank you for your comment. I have another blog that is designed to help families navigate all practicle aspects of life with a SN child. If you have any information that you hink would be helpful to other families, please let me know! Thanks, Chasity

  2. Chasity,
    I feel so blessed just reading about D and I feel as if he is such a part of my life as I have followed your every update. I anxiously await every new update. I am constantly amazed by your and Mike's faith and love. D is very blessed by having both of you for parents. I can't wait to see him again. If there is anything that I can do (other than pray) just let me know. lots of love, Aunt Edye

    1. Aunt Edye,
      Just knowing you are reading and keeping up with Baby D is so nice. I really appreciate your ongoing support and comments, it really does help when times are tough. Thanks and we hope to see you soon!