Genetic Testing

From Dominic's birth his neurologist has thought Dominic had a genetic condition called Smith-Lemli-Opitz syndrome, but his cholesterol levels have always been pretty normal (or averaged out to normal: 2 high, 3 normal, 2 low), which would not happen with this disorder.  This syndrome effects the last step in the body's process of making cholesterol which is vital to normally functioning life.  It's funny how we all hear the word "cholesterol" and automatically think "heart attack!" but in reality it is very important in our bodies... the good kind, not the McDonald's kind.  Without the proper levels of cholesterol, the nerves are not able to maintain their myelin sheath.  Cholesterol also is a precursor to Vitamin D.

Anyway, this doctor has always highly suspected this and despite the metabolic geneticist and geneticist saying he doesn't have this condition because of his mostly normal cholesterol levels, the neurologist ordered a genetic test anyway (I love him).  This is where it's a bit confusing.  The test came back negative, but there were 7 mutations on the gene that carries this syndrome.  The neurologist says that the 7 mutations are very unlikely to occur on the same gene.  Maybe 1 mutation, but not 7, thus he is still convinced Dominic has some form of this condition.  He is ordering a full genome panel, even of the genes not yet mapped in science, to see all mutations in his DNA and try to make a diagnosis.  He warned me that this full panel will most likely show multiple mutations and can lead us on a wild goose chase if we let it (by pursuing every little mutation we find), but if we have a big picture, it may allow us to make a positive diagnosis.

A diagnosis is so important in this case because we can use cholesterol supplementation to try to replace the cholesterol the body is not making.  Do you know that test they do to every newborn shortly after birth where they prick their heel and collect the blood on a piece of paper with 5 dots?  That test is looking for a disorder called PKU, which is a very serious metabolic disorder that if not found early can lead to mental retardation and seizures.  PKU is the first cousin if you will of this disorder.  If this syndrome is caught early, cholesterol supplementation can help lessen the severity of some of the symptoms later in life, such as the autistic and behavioral tendencies, but unfortunately it can not be managed well enough for the child to be "normal."  We have started on a an egg yolk a day regimen anyway, just in case the test is positive.

It is estimated that 1 in 20,000 to 60,000 babies conceived have this disorder, but it is hard to say since most are miscarried or stillborn, and now with the advent of the screening test, are aborted.

So, in a few days we will be admitted to the hospital for a 24 hour EEG to check for seizure activity and then Dominic will have the blood test for the full genome work up.  It's funny, in college my favorite subject was genetics.  I loved it so much I took extra genetics classes to forgo my requirement for a foreign language (yes, I'm a nerd).  I even considered becoming a genetic counselor but decided not to when I found out that some of that counseling included giving the parents the choice of killing their less-than-perfect child.  Is an imperfect life not worth living?  It seems to me that these are the lives that point us to our ultimate destination.  These people make us uncomfortable because they force us to think.  Think about the hard questions: why?  what is the purpose of this life if not to be productive?  what is a life worth?  They pop our little bubble of normalcy and force us to stare death in the eyes.  Or perhaps I should say they force us to stare God in the eyes.

All this I am struggling with.  Please keep us in your prayers.

In Jesus and Mary,
Chasity

Perfect.