Observations So Far

Today at 4pm, we will meet with the geneticists.  They have a diagnosis for us.  They were able to determine a diagnosis based on the blood test results.

About a month ago, we got our first round of X-rays.  On the 19th of July, the X-rays confirmed my observation that Niko's chest is very small and she's got a pronounced curvature in her spine, a condition called Kyphosis.  Since then, we've had full body X-rays, blood tests, urine tests, and meetings with the genetics team.

For about a month, I've been a wreck.  There were only three days out of this month that I have not cried.  And today at 4pm, we will find out what condition Nikola has.  I'm so nervous and upset, I can't even breathe properly anymore.

Before this meeting today, I figure I should list the observations that I have noticed about Nikola and the X-ray results.  The bright side is after 4pm, all these traits won't have the same weight on me anymore.  After 4pm today, I will not have to research frantically in a ridiculous attempt to self diagnose.  I will not drive myself crazy anymore by comparing photos of babies and children online to the appearance of my own baby.  But unfortunately after 4pm today, I will no longer have the hope that perhaps Nikola is "normal".

The moment Niko was born and they placed her on my chest, aside from the relief of labor being done, I noticed that there was something about her that didn't resemble the looks of other babies.  I just couldn't put my finger on it. From head to toe, there were many details that seemed different.  If I had not had Mila, and Niko were my first child, I don't think I would have picked up on so many irregularities.  Below are my observations and the X-ray results.  So here they are.

HEAD
Nose:  The bridge of her nose is rather flat and her nostrils seem flared all the time.  Also I cannot pinch her nostrils shut.  The cartilage is really firm.
Mouth:  Her gums are really thick, but the outline of each of her teeth beneath is really pronounced, giving her a very gummy appearance.
X-RAYS:  The radiologist determined that the X-ray of her skull is normal.  Also the geneticist and SD specialists agreed that her facial features are coarse.

MID-SECTION
Chest:  Her chest seems very small and the X-ray confirms this.
Torso:  Long compared to her limbs
Stomach:  Her tummy is distended extending way beyond her small chest creating a pear shape.
Spine:  Her lower spine curves out a lot, creating an exaggerated C shape.
Hands:  Her thumbs are always tucked in against her palms and they seem long compared to her other fingers.  Her hands are often positioned in a way that appears similar to someone with arthritis.
X-RAYS:  The bones around her shoulders are "abnormal".  They use the term "abnormal" a lot when referring to her bones which drives me nuts because that doesn't explain anything.  But I'll use that term here because that is how it was explained to me.  She has kyphosis of the spine.  A few of her spinal discs are shaped abnormally.  The X-ray revealed a lot of gas in her intestine which explains her constant pain after feeding and her lack of interest in nursing.

LOWER HALF
Legs:  Her femurs do seem a little on the short side.  But ironically, even though this was the major concern during prenatal ultrasounds, her legs are the least concerning now.
X-RAYS:  Her foot bones are some what abnormal.    

DEVELOPMENTAL MILESTONES
Niko is somewhat behind in hitting her milestones.  Here is her three month performance.
Head:  She is still unable to hold up her head.  Her head is still wobbly when being held upright.
Tummy Time:  She absolutely hates it.  She doesn't lift her head for even a second (she did it once when she was about 7 weeks.  She even turned her head right and left, but never again).  Her face is just flat on the blanket.
Hands:  She doesn't try to grab anything.  She doesn't seem to want to bat at objects either.
Eyes:  She tracks very well and has been doing this for over a month.  She also turns her head in my direction if I move around her.
Ears:  She hears quite well.  She startles and jumps at sudden loud sounds.  In fact, she's a very light sleeper due to this.  
Feeding:  Awful!  Actually she's regressing.  We rented a hospital grade scale so that we can monitor her feedings.  At around one month, she used to be able to drink 70ml - 100ml per feeding.  She also used to take both the breast and the bottle.  Now at three months, she grazes all day.  She drinks about 30ml per feeding, so she's on the breast every 40 minutes to an hour.  And she absolutely rejects the bottle.  I am her topless slave.
Communication:  She doesn't babble and she just starting smiling at three months, though she's not very generous with her smiles.
Sitting:  She can't sit for too long.  And when I say sitting, I mean reclining in a bouncer seat.  Our theory is that the kyphosis puts too much pressure on her spine and it pains her.

That's it for now.  The geneticists have ruled out any major form of skeletal dysplasia.  They told me it's a metabolic issue.  But the tone of the doctor's voice during our call yesterday was very heavy.  I'm so afraid that we are looking at something way more serious.  I'm holding my breath till 4pm today.