Busy Busy week

MONDAY

We have had the busiest week so far.  Monday, the Early Intervention Specialist and Speech Therapist came for a visit.  They watched Lily eat to see if she has any issues with textures or with moving her mouth properly.  On the menu: leftover pork meatballs and risotto.  How lucky was it that the one time we have fancy leftovers we have company!  Whoo Hoo!   Also on the menu: tater tots.  You know, just in case she turned up her nose at the fancy pork thing.

She ate very well, probably in defiance of me telling everyone what a picky eater she is.  They think that Lily does fine with different textures but that her mouth seems to get tired quickly and she may have difficulty moving food around her mouth.  This is all pretty common in kids with low muscle tone, so no surprises there.  But, it would help explain pickiness and low weight.

While they were here they asked if I had ever noticed Lily 'space out' or seem to 'look through me instead of at me'.  I asked what they were getting at and one of the ladies noticed Lily doing this which might indicate a petit mal seizure.  Ugh.

No, never noticed it.  But, that very day, Rob was sitting with her in the backseat of the car when she spaced out and her eyes rolled in the back of her head.  Lasted only a few seconds and she seemed fine after that.  Feel like a horrible mom for never having noticed this before.... bleh.

TUESDAY

Nurse came for a visit to enroll Lily in the disability insurance program.  Whoo Hoo.  They will pay for any diagnostic tests that our insurance does not pay for.  Once Lily has a diagnosis (if she gets a diagnosis), they may also help pay for treatment costs.

WEDNESDAY

This was the big day.  Went to Cincinnati Children's Hospital to meet with the geneticist.  Spent two hours meeting with about 7 different doctors/nurses/lab people/nutritionist.  Learned a few things that we already knew:

1. She does not have any facial characteristics for metabolic disorders.

2. She has good cognitive skills. :)

3. She doesn't like doctors.  Or nurses.  Or lab people.  Or nutritionists.

4. Add more butter to her food to fatten her up.

No really, we did get some good suggestions about how to fatten her up.  And, they want us to try a milk-based calorie booster even though it has milk protein which Lily doesn't tolerate well and it will keep her (and me) up all night.  But, whatever.

I was also told that I may be told to stop nursing.  Not their decision.  She's been gaining weight very well since her 12 month appt, so her weight is becoming less of a concern.

The doc ran bloodwork for metabolic disorders, renal activity and a complete blood count.  We also had to tape a bag to her diaper area to collect urine.  In the two hours that we were there she didn't pee once (of course).  So, she peed by the time we got home and I have to take it back there tomorrow.

Have to go back in two weeks for a weight check and was given a referral to neurology. Exhausting day.  Tomorrow I have only one thing on my to-do list:

Drive the pee to Cincinnati.

That would make a nice title to a country song.

Lily Update

When Lily was born she weighed a healthy 9 lbs, 3 oz.  She was given a wonderful bill of health, no hint of jaundice, no problems with blood sugar, just extremely healthy.  Healthy, until she was about 5 months old and we realized that she wasn't gaining much weight.  The doctor reassured us that she probably just hit a plateau and we just needed to keep an eye on it.  So, that's what we did.  At six months, absolutely no gain.

By her 9 month appt, the doc diagnosed her with failure to thrive and suggested that we do some testing, just to make sure iron levels, lead levels, etc were all normal. They were.

Fast forward to her 12 month appt and she again had a very small weight gain.  She weighed only 15lbs 15oz.  Which means that she had gained only 6-1/2 lbs in her first year of life.  More testing.  Cystic fibrosis- negative.  Celiac disease- negative.  Thyroid probs-negative.

Ok...

When Lily was 14 months she finally started being interested in trying to walk.  Until this point she had barely done much cruising and, although she had been scooting around for months, she never crawled.  As she started practicing walking, I noticed that her right foot was dragging.  She could make large motions with her left foot, but the right one continued to drag.

I called the Early Intervention program in our county.  Between the EI specialist and our doctor we now know that Lily has hypotonia, which means low muscle tone.  She is very wobbly when trying to walk and cannot stand on her own for more than 5-10 seconds. 

And, although she no longer seems to be dragging her right leg, we've since noticed several other areas where she's not developing correctly.

She has a tremor in her hands and trunk.  This is especially noticeable when she is trying to do small motor tasks, like grabbing a pen or putting a coin in a slot.  Also, when she's tired.  When she first wakes up from a nap or in the morning, her whole body shakes, often for several minutes.

She gets tired very quickly.  After playing for a long time, she'll often put her head on the floor and rest for a few minutes.  That is usually followed by her climbing into my lap to rest or nurse.

There are a number of things that may be going on, including muscular dystrophy, a metabolic disorder or cerebral palsy. The doctor didn't think it would be a metabolic problem, he said that she doesn't seem to have the characteristics of a child with a metabolic problem.   So, that leaves cerebral palsy or muscular dystrophy.  Or it still could be nothing...

Muscular dystrophy is a degenerative disorder, which means that it just keeps getting worse, not only would her developmental progress slow down, but it would regress.  Cerebral palsy is a neurological disorder that usually resulted from some sort of damage to the brain, generally in utero.  It is not progressive.  She could make progress with physical therapy (and perhaps occupational therapy, as she also has a fine motor delay), but she may need crutches or braces or other walking assistance.  If it's mild cerebral palsy, it may be barely noticeable to other people that anything is wrong at all.

From now on, I'm going to use this blog to update on her progress and her diagnosis, when/if we ever get one.  I'm doing research like crazy to try and figure out what the best options are for us, and right now all we can do it to help Lily gain as much functionality with her gross motor and fine motor skills as we can.  This will probably mean regular physical therapy and perhaps occupational therapy.  We also will have a feeding specialist come out and observe Lily eating, which would tell us if she has has low muscle tone with her facial muscles, which would explain her incredible pickiness and low weight.

On a more positive note, while the EI specialist was doing the assessment on Lily, she was impressed by Lily's language development and her cognitive development.  She said that Lily is very smart...which, of course, we knew.  I mean, look at who her parents are...