Thursday, January 24, 2013

J's genetic appointment

Today was a big day. Since J's brief stint in the NICU, January 24 has been THE day in my mind. Our first appointment with specialists. Between December 22 and January 24, J's only goal was to grow. My goal was to get better. We accomplished those things, though he did better than me. I'm still not 100%, but I'm getting there...more often 2 steps forward, one step back, but isn't that how these things usually go, especially for hardheaded women like myself.

So back to J.

To be brief, J has been clinically diagnosed with chondradysplasia punctata. That means that he has a genetic abnormality affecting the way some of his cartilage and bones grow.

This is a very varied disorder. Some people can be affected genetically, but show no symptoms. But then, some types of the disorder are very fatal (usually within the first three years of life).

They think he has type one of CP, but are ordering a more specific gene test to know more. It's x linked, which means that I am most likely a carrier. It's a small possibility that J's genes mutated on their own... But not likely.

I'll write another post soon about the implications that whole "x linked" thing has for my family....

J is thought to have a fairly mild case either way. So that's "lucky." It is mostly more "waiting and seeing"...

He could be of short stature, he could have mental disabilities, he could have hearing loss, he could need surgery....or he could not.

The main thing is to treat his symptoms, and the main symptom is his small nose...which regardless of type of CP, has the same plan; avoid getting sick at all costs (most recently in the form of a $2400 shot and living the life of a hermit)....
As I have said over and over again...he cannot afford to get sick. Not only would it certainly spell h-o-s-p-i-t-a-l, it could be fatal if we didn't get his nasal passages opened quick enough. Upper respiratory infections are hard on all kids, but kids with congenital abnormalities there are even more at risk for complications.

So aside from J's nose sitch, his other symptoms are little calcifications on some of his bones that aren't hurting much that we know of. He's got a teeny murmur that is "trivial" and he's cute as heck.

That's all we know for now. Praise God.

Next week we go to a special craniofacial clinic, where we'll see several specialists. We'll learn more about our plan for J's health outlook, development, and hopefully goals to obtain. We'll see his nose surgeon, an ENT, speech therapist, social worker, and one other I forgot.

We also have his NICU follow up next week, which I think is just a weight check plus general, "how's he doing at home" kind of a thing.

Speaking of weight, he is growing like a champ!

He was 10 pounds 15 ounces today, which they said is 60-something percentile. He's just a bit over 21.5", which is less than 50%...but I forget the exact number. His head is 91 percentile. Boom, he's a genius ;-)

He continues to nurse well, his sleep is hopefully improving, and is truly waking up to the world. I had some precious snuggle time this morning full of coo's and happy faces. He's a doll (as long as he's not fussy from gas or reflux).

Aside, G did great with the babysitter, who seemed super sweet and a good fit--she even put the dishes in the dish washer :) (and abided all our germ-freak rules)

Explanation of the genetics, as explained by our genetic counselor today;

Our DNA is a recipe book. J's recipe book blood test looked just fine, all recipes were in order (genetic lab came back normal, all 23 pairs there).
Our chromosomes are like the recipes. None of J's recipes were missing any sentences (micro chromosome array came back normal, nothing missing on the 46 pieces).
Finding the genetic abnormality for J is like looking for a misspelt word in the "X" recipe (specific ARSE gene test on the X chromosome).

That's an analogy after my own bakers heart :)

Thanks for the prayers and thoughts. There're kids with a lot worse problems than J, we just have to be very cautious right now during cold and flu season because his tiny nose and nasal passages are a big deal for breathing. We are lucky to have such a minor worry in the big scheme of things. God is good.


  1. So glad to hear things are heading in the right direction for you and your sweet little boy. He is just precious! I will be praying for God's provision and protection as y'all deal with any potential complications that arise with baby J. God will provide!

  2. I will be thinking of you guys! He is such a cutie! ... I think a girl I work with has this disorder. She had surgeries on her arms when she was young, and she's not supposed to run bc of her legs, but otherwise she is 100% normal and healthy!!

  3. Man, he does have a big head. He must get that from Justin. Glad to hear you guys are doing better.

  4. He is just the cutest thing ever!! I agree he must be a genius with that big head!! Hahaha. I've been in your shoes with one of my boys. After some positive (bad) blood labs during newborn screening my son was diagnosed with homocystinuria, a metabolic genetic disorder. Took awhile to get all the answers and a plan to keep him healthy, but we finally did. I will keep your little man and your family in my prayers.


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