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.

Rebel with a cause

For any of you who have known me for any amount of time, you may know that I have a reputation, in my former life as a teenager, to be a bit, say, rebellious.  Now I am tempted to defend myself against that judgement but I know if I did my momma would hack into this blog and set the record straight, so I'll come out and say it right here: I was rebellious. My total disdain for authority and everything mainstream used to get me into all sorts of trouble, made for alot of time being grounded, and no doubt caused my poor parents all sorts of stress (sorry 'bout that).  And until recently I saw no use for this drive within me at all (except for possibly self-mortification by fighting the urge to abandon my duties).  But now, I see that perhaps God did have a purpose when he placed that within me; perhaps it was for my children, especially Dominic.

I have a natural uneasiness for authority (not church authority because I know they have the truth, but doctor authority whose "truth" can be legitimately questioned).  I think this is why I ask doctors 'why' so much and challenge the response 'because that's how we do it.'  I also think this is why I get so worked up with the real food issue, and why I even thought to question the mainstream recommendations in the first place.  I also think this has alot to do with why I am still pumping (have I mentioned I REALLY want to stop??).  Although I know it is the best nutrition for him, I have this urge to prove to the naysayers that I can do it (you'd be surprised, while everyone has been supportive of it, are all sort of shocked to hear I pump still and give me the 'formula is okay you know" speal).  So I'm channeling my rebellious nature into something good and productive... giving milk for sweet D.

So finally, I have found my cause.  It's good to know all those years of disorder can be wrapped up neatly knowing I am putting my rebelous nature to good use.  Lets just pray Mary Grace takes after Mike, not me in that respect :/.

**And on a side note, my intention in my real food crusade is not to make any parents who feed their special needs child formula to feel bad or guilty.  I believe it is the responsibility of the medical community (which I am a part of as a PT) to recognize the value in real food for the defenseless and show them the same respect they would to their normally functioning patients (if I fed my normal kids only pedisure I would be sent to CPS I'm sure).  So, please, all you medical moms and dads out there, this is not aimed at you since I know you already see your child as having great purpose, but at those whose job it is to educate the families on how to take care of our kids.  To bring to light the mantra they unknowingly preach that diabled kids don't deserve what normal kids do.**

Another success

The other night we brought the whole family to St. Elizabeth Ann Seton Church for mass and benediction.  We have been to the Cathedral down town but that is the only church we have ventured out to.  The folks at daily mass at the Cathedral have gotten used to Dominic for the most part and while we still get some looks most people just smile sweetly at him.    This was the first time the people at this other church have seen him so we got lots of looks.  Most shocked, some smiles, one lady even did a complete double take and stopped in her tracks (lol!).  We had a couple of people walk up and want to talk with us, and we finally met a family that I've "known" on the internet (through the homeschool group) for quite a while.  They also have a special needs child and it was beautiful to finally meet him.  The looks and double takes don't bother me though, it's to be expected... it's not often you see a baby as sweet as baby Dominic ;).

I have to say I was so impressed with the youth that were there.  I had almost every door opened for me (and I had alot of coming and going with diaper changes, feeding, going to the car...).  These young men would literally run to beat me to the door to open it.  Never have I had that happen!  It was so refreshing to see, little gentlemen in the making.

But that's not the best part of the night.  We got to go to mass said by Father Juan Diego.  He said an awesome holmily, which I missed the punch line of because I was in the bathroom with the kids.  I was trying so hard to listen through the muted speakers in the bathroom and just before he said the punch line a toilet flushed... I had to laugh... the plight of a mother.

After mass we had the opportunity to touch the humeral veil that was surrounding the monstrance which was holding the consecrated host, the body of Jesus.  Each person got to kneel and touch the veil for a moment, realizing the true presence of our Lord.  Fr. Pio draped the veil over Dominic and I prayed for healing, if that was God's will.  All the other children touched it while Mike and I held them up in prayer.  It was so beautiful.  A moment to completely abandon ourselves to Jesus, basking in humility of being so close to Him.

It was another successful night of being out as a family (despite forgetting the back up battery for the vent... good thing the church had outlets!).  A triumph, proving to ourselves that we really can handle this new life.  I am so thankful for the opportunity to allow Dominic to do his work, of showing others the face of God, and hopefully of being a witness to the goodnes of life with all our little kiddlets.

In Jesus and Mary,
Chasity

Our little soldier of God

Depending on where you stand on the subject, the word "pro-life" means many different things.  For me, before my current life, it was a narrow definition.  It meant people standing in front of an abortion mill praying, trying desperately to save the lives of the unborn and help the mothers in trouble.  It meant voting for candidates who would protect the life of ALL citizens. It meant respecting the inate dignity of all persons, from conception to natural death.  It was the people behind the scenes at the crisis pregnancy centers, loving the moms that come in, helping them through the pregnancy and after with material needs and emotional support.  While it still means all those things for me, it is so much more now.

The birth of Dominic has brought another view of pro-life to the fore-front for me and others who are close to us.  I am faced with the reality that in some people eyes, my son is not worthy of life.  He is not the "perfect child."  He definately is not the "designer baby" spoken of so much in the news.  This is evident by the simple fact that only 10% of babies with Down Syndrome make it to birth... the rest are slaughtered in their mothers womb.  Heck, children with Down Syndrome can do SO MUCH!  They are not reliant on technology to live, and very often they can do many skills leading to a job in their life... they can be "productive."  If they are not deemed worthy of life, Dominic would surely be a throw-away baby in the eyes of those who think this way.  He will not be a "productive" member of society who pays taxes and keeps the economy growing.  And realistically he is a "drain" on the insurance system since his care has so much cost.

His job in life though, I truely believe, is to bring the gospel to others... those who will not go hear it in church or read it in the Bible.  Those who are broken, defeated, calloused.  Those who might confess that killing babies like him in the womb is compassionate and just.  He is so very alive.  He is a living testament of God's mercy and goodness.  What a privledge he has.  What a big job God has given him.  For as long as I can remember I have asked for God to make me His hands and feet, to transform me into whatever he wills so that I can bring Him the most glory.  It is not me, but through me, that He is answering my prayers.  My job is to care for this sweet child of God, to keep him well so that he can do God's work.  His very presence reveals to people God's face.  It makes them ponder those hard questions in life... "why?"  And hopefully it tills their hearts so that God can sow a seed of love in them.  This was made evident this weekend when I took him in public.  People stopped what they were doing and stared.  I did not feel bad, or self-conscious, but rather allowed them to look by keeping my gaze down and keeping myself small.  Perhaps it is through Dominic that they might see God's face.

Such a happy little man with his Father Pio Maria