Saturday, January 22, 2011

Whole lotta questions going on...

OK so getting that sick was NOT a good idea!


I have to say, in my defense, I did tell my OB about my back pain when I went to see him last week and he said it was nothing (in his defense back pain is a pretty generic symptom). I didn't have any reason to suspect I had a urinary track infection till just about two days before I got really sick and then it only seemed mild.

Also I because I am pumping and trying to increase my supply I have been drinking way more water than I usually do. Is it enough? No. But way more than usual.

I spent from 8 am Friday morning till 8 am Saturday sleeping and taking pain meds every two hours and generally just feeling so crappy. I can't remember when I've last been that sick.

Your Granny says she remembers - it was when I had a kidney infection in '88. So I guess kidney infections and I don't mix well.

True to form 24 hrs of antibiotic and I'm back and running at 95% capacity. I did take it easy today as your Granny is here and taking care of you.
I didn't get to see you from Thursday night at 10:30 till Saturday at 10:30. Unbearably long time!

Me just before I got really sick. I think you can see it in my eyes


Thank god for your Granny. She has always been there for me, and for you. Did you know your Granny has been in your life from the second you were born? Just like she was with your brother. Here she is again at your bedside taking care of you, and at the same time taking care of me.


It's my greatest hope to be a great mother to you. That when you look back on your childhood and our relationship you can say - my Mom's was always there for me and I never doubted, for even a second, that she loved me, and always would.

I hope that you feel something like that, and if you do, we owe it to this woman. She's the one who taught me how to be a mother. She's the one who taught me to be everything I admire about myself.

I've always loved the saying "Everything I am, everything I will ever be I owe to my mother." Well everything I am, and everything I will ever be as a mother, I owe to my mother too.

I just wanted to make sure I told you that.

So on to the questions...

We are all settled into the NICU and are trying not to miss the CTICU too much (but it's really really hard) :/


All of your test for DiGeorge syndrome have come back negative. So you 100% DO NOT have DiGeorge or any of the Q22 deletions. So now the Dr's are asking if not DiGeorge than what?




The answer seems to be CHARGE syndrome. The major markers for CHARGE syndrome are;

1. Coloboma of the eye
Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye)

2. Choanal atresia or stenosis
The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.

3.Cranial nerve abnormality
Missing or decreased sense of smell and/or Swallowing difficulties and/or aspiration and/or Facial palsy (one side or both)

4.CHARGE outer ear,middle ear, and inner ear
Malformed outer ear, malformed bones of the middle ear, malformed cochlea

Minor characteristics of CHARGE are;


Heart defects Can be any type, but many are complex, such as tetralogy of Fallot
Cleft lip +/- cleft palate Cleft lip with or without cleft palate, cleft palate, submucous cleft palate
TE fistula Esophageal atresia, Trancheo-esophageal fistula
Kidney abnormalities Small kidney, missing kidney, misplaced kidney, reflux
Genital abnormalities Males: small penis, undescended testes
Females: small labia, small or missing uterus
Growth deficiency Growth hormone deficiency Other short stature 70%
Typical CHARGE Face Square face with broad prominent forehead, arched eyebrows, large eyes, occasional ptosis (droopy lids), prominent nasal bridge with square root, thick nostrils, prominent nasal columella (between the nostrils), flat midface, small mouth, occasional small chin, larger chin with age. Facial asymmetry even without facial palsy
Palm crease Hockey-stick palmar crease
CHARGE Behavior Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals

This is how you get your feedings. You don't seem to mind



So here's what we do know


1. We found out yesterday that you do have a Coloboma in the back both your eyes. They don't believe this means you will be blind but they won't be able to tell how much, if any, your vision will be affected till your retina matures.

2. Based on the initial examination you don't have Choanal atresia or stenosis (narrowing of nose or throat). They do believe you have either a paralyzed vocal cord or redundant tissue on your vocal cord (one person told us right, one said left). The plan on doing a indepth examination of you sometime this week as soon as we can get a spot in the OR. We hope we might find a reason for your respiratory difficulties so we can get you off the vent and home!

3. You have the facial palsy and from what we read it wont go away. We don't know yet if you have a sense of smell or taste and are not sure how we will find out.

4. The shape of your ears are normal. You are scheduled for a hearing test this week. Fingers crossed your hearing wont be affected.

We know you have heart defects, and a cleft in your palate, but your kidneys are normal, your genitals are normal (bet your glad I shared that huh?), you almost 20 inches long (same as your brother a birth), and as far as we can tell you don't have the typical face of a CHARGE baby (the geneticist didn't feel you had any facial abnormalities either). I need to check out your palms tonight.

This is how you look after your feeding. Ahhhh that's a content baby! Your forehead is all red because you were hungry and had been crying



So what do we know? Well you have a quite few of the characteristics of CHARGE and there are a lot you don't have. The Dr's are quite sure you have it but then they were 100% sure you had DiGeorge too.

The way I see it is that even if you do have CHARGE once we get you past your breathing problems, all your life threatening problems are taken care of. You heart is completely healed, you kidneys are perfect, you are eating and absorbing your food.

What's left is hearing, vision, smell, taste etc and while I hope none of these turn out to be a problem as long as you come home healthy and happy I we will deal with whatever else is to come.


Someday maybe we will have an answer to all these questions for now the only one I really care about has been answered.

Will you live...Yes!

That's all I need.

We will deal with the rest as we go.

6 comments:

Michelle said... Best Blogger Tips

I am happy you have had some of your questions answered. Now you have so many more questions. I am glad you are feeling better, now take better care of yourself your little man needs you.

The Houston Family said... Best Blogger Tips

Finally some answers for you! Not knowing is so hard! My best friend has a friend with CHARGE syndrome. She lives on her own and does hair for a living. Again, don't read too much on the internet! Glad you are feeling better. Take care of yourself!

dxeechick said... Best Blogger Tips

Just want you to know my husband and I are thinking about you guys. Take care of yourself woman. When we are back next week, I'll let you know. Maybe we can bring you guys lunch or something?

Cindy said... Best Blogger Tips

I often feel doctors give the worst case scenario, but it sounds like he doesn't have much of CHARGE syndrome. We are hoping and praying that his breathing and eyes get better, and That home is in your very near future. :-D

The Bagley Bunch said... Best Blogger Tips

Your strength is remarkable. ALL of you! Praying the Lord continues to knit you even closer to each other through all of this. Love and blessings!

ellen charge said... Best Blogger Tips

well to me it seems he might be a lucky charger wich is great not all chargers have all the features a great page to look is www.chargesyndroem.org that explains the charactersistics diagnostic quieteria and everything to me he seems a mild charger there r quite a few mild charge people there are more severe cases to so my lovely firend welcome to the wonderful world of CHARGELAND