My Baby's Growing Up

Here we are at the brink of Fall with a 15 month old.  Lyle and I have heard the oh so familiar phrase, "Can you believe it's been a year?"  We shake our heads and smile, but then we laugh with each other when they walk off.  Instead of the normal response parents should be giving Lyle and I just want to take a deep breath and say, "YES, we can believe it.  It's been the longest year of our life!"  haha  It's with great pleasure to be able to laugh and joke about where we've been, where we are, and where we're headed with our sweet Natalie.  We're full of relief, exhaustion, excitement, joy, and encouragement to be celebrating a year of Natalie's life.  A year and half a go Dr. Goodnight told us our little baby girl had a 50/50 chance of survival after birth.  Isn't truly wonderful to be celebrating on the 50% chance side of life!?!
With all of that said here's where we are as a family with Natalie's diagnosis and development so far.

Diagnosis - NONE
However, Natalie's neurologists entered her into a medical trial that is referred to as, Next Generation DNA testing.  It allows a lab to test 20x the amount of DNA than what's been done before.  This a 5 year long trial so Natalie's results will be reviewed for the next 5 years as the medical field changes and becomes more knowledgeable.  The only conclusion that has been made about Natalie is that wherever her genetic informality is a normal lab does not have the resources to find it.  We're hopeful to see some results in this medical trial.  Natalie's doctor called and said we should be receiving the results in the next few weeks.

• Back
• Natalie is now wearing a back brace.  Because her core has taken so long to strengthen she has developed scoliosis, an S curve in the spine, and kyphosis, a hunched back.  

• Feet
• Still in the process of correcting her clubbed fee.  We are casting, taping, and wearing special shoes depending on the week.

Development - A lot (currently 15 months old)

Natalie is continuing to develop and surprise her therapists on a monthly basis.  No one really knows what to expect because she continues to build her strength in the opposite direction of a normal child.  :)  What is expected during the infant - toddler development is for the child to first strengthen their core and work they're way out to their limbs and eventually fingers for the fine motor skills.  Natalie does the opposite.  She gained her strength starting with fine motor skills and is gradually working her way to her core.  Although she may not be able to walk she can spot and pick a cat's hair out of the carpet even if you did just vacuum twice.  lol  The problem this presents is that a baby's core strength is what signals the body to start maturing.  As you are probably familiar with babies are very flexible creatures.  As their core strengthens it sends out signals.  It tells the muscles and bones where to settle and stop being so flexible.  It tells their insides when to mature, whether the stomach can handle table foods or cows milk versus mom's milk or even whether swallowing something lumpy is ok.  With all of that said here's where Natalie is today...

• Eating her first table foods
• She has fallen a little behind on her feeding abilities but her feeding therapist says it's the lack of her core strength.  As her core strengthens her digestive track matures and her appetite will increase.  We would say she's right around a 12 month's old abilities in eating.
• Starting to put weight on her legs when you hold her in a standing position.
• Leg strength and lower abdomen are around 6 month's old
• Has full head control
• She was able to move to  forward facing car seat this past week.  She's on target with the exception of lifting her head more consistently while in a crawling position.  This has more to do with her back muscle versus her neck.
• Is starting to crawl!
• 8 months old
• Is a ahead in her cognitive
• She has more words in her vocabulary than normal.  She notices and reacts to people's mood changes.  16-17 months old

I'll have to say it's quite entertaining to have a baby that does so little but understands so much.  What perhaps makes us laugh the most about Natalie is the fact that she laughs the hardest when someone gets hurt.  If your remember the youtube video, "Ouch, Charlie that hurts,"  then you've seen a glance into Natalie's mind.  She laughs when you fall, if you cry, if you scream, or when her brother, Isaiah, is in trouble.  What catches people of guard is Natalie still can't make facial expressions.  When you hear a belly laugh coming from a straight faced baby it's a little confusing, but hilarious.  It goes perfect with the fact that she's typically laughing at someone getting hurt.

Isaiah is thrilled to have a mobile sister.  He told me just this past week that Natalie is older now so we need a another baby.  I knew it wasn't just me that finally feels like my baby is growing up.

New house, New therapists, New medicine, New skills

A lot has changed in the past 2 months.  We have moved back to our Willow Spring house.  Lyle has started a new job.  Natalie turned 10 months old. Natalie had to switch therapists since we've moved to a new county.  Natalie is on a daily medication.  Natalie is making major steps in her abilities.

Natalie has been doing great.  Since the last time we talked she started a medication called Mestinon.  It gives her nerves more time to process the commands coming from her brain and being sent to her muscles.  We have seen great results from this medication.  She is able to eat in a normal time span and does not have to nap afterwards.  She is consistently rolling from her stomach to her back.   She can sit up on her own between 1-2 minutes.  She has also started putting pressure on her feet.  People other than her family can tell when she's smiling.  She has started cooing and babbling.  We're hearing her voice for the first time other than the sound of a cry or grunt!

She had 2 assessments a couple of weeks ago which both concluded that she is above average in her cognitive communication.  Meaning, she notices changes to her environment such as who's speaking, when her name is called, when someone come and goes, and understands simple commands more than average baby her age.  On the physical side of things she has accomplished about a months worth of improvement in a 2 months time versus a 4 months time.  She is sitting on her own, rolling to get reach for toys, and kicking.  Typically a 10 month old would be crawling and in the beginning stages of walking just to give you an idea of where we are.

We're really excited about all of her changes.  These past changes are making our lives a little more easier as far as toting the little girl around and helping her play.  The biggest problem we are running into now is trying to keep her from sitting up and falling out of her rocker.  :)

The feeding tube is out!

Natalie's feeding tube is officially out!  January 12, 2012 the UNC CH doctors, therapists, and nurses finally agreed to take it out after 6 hours of deliberation.  She had her tube for approximately 6.5 months.  Our understanding is that it is rare for a child to have a feeding tube under a year's amount of time.  Natalie has done exceptionally well with her eating progress.  She's working with a speech therapist (who essentially is a feeding therapist).  She's worked up to 1.5 jars of baby food a day which puts her right on target for what a baby her age should be eating.  She has a special feeding utensil that helps stimulate her facial muscles to encourage her to eat.  Typically she take a 30 minute nap after each meal because it's an exhausting task.

We also received the results back from Natalie's EMG.  As a reminder, an EMG tests for the reaction between the nerves and the muscles.  It tells whether there are delays, weakness, or slow reactions.  To our disappointment it was another inconclusive test.  The doctor who performed her EMG said he was not able to get enough reaction from her limbs and was not able to get any reaction from her facial muscles.  He is known as one of the most experienced and best doctors in the region for performing and reading EMGs.  He said that Natalie is the first patient he has ever had that he was not able to get some conclusive results.  Once again Natalie stuns a doctor.  :)

However, we go to visit her neurologist on Monday February 6th, who will be prescribing Natalie 3 different medications.  Originally she was not going to try Natalie on the medications without a conclusive result from the EMG, but after further research she found that they are be-nine.  Be-nine meaning there are no side affects if they do not improve her muscle functions.  We will got through a testing period to see if any of these improve her muscle memory/ functions.   We should be able to see a difference between 1-9 days per medication.  Hopefully she will start on one of these next week.

As far as growth stages: (Natalie is 8 months old)

• Natalie's upper body, neck, and head strength is around a 2 month old.  
• Her lower body strength is around a 4 month old.
• Her cognitive and feeding is around an 8 month old.

Major milestones since the last time we talked:

• Turned from her belly to her back twice!
• Eating baby food, fruits and veggies.
• Putting toys in her mouth.
• Can accurately grab and pull your earrings out.  (sadly I know this from experience, haha)
• Has attempted once to push up with her arms while on her tummy.

She's a beautiful growing girl with a wonderful big brother!  Thanks again to all of you for your continual support.  It helps Lyle and I deal with the time between each blog.

Ready or not, here we come 2012!

Natalie's blood test came back "sort-of negative."  The test was for a congenital myasthenic syndrome called RAPSN gene sequencing.  In other words, a vary narrowed down DNA test.  What the "sort-of negative" result tells us is that Natalie does not have this particular syndrome however we are headed in the right direction.  Our next move is for her to have an EMG.  They will test her for a delay in what is called the neuro-muscular junction.  This is where the nerves talk to the muscle.  Natalie's doctor believes that there is a big possibility that there is a delay in the two talking to each other.  The EMG will give us a definite yes or no.  If we get a yes we will start her on 1of 3 different medications that will help improve the communication between the 2 which will result in a much quicker development.  If the EMG does come back saying Natalie's issue is in her neuro-muscular junctions then we will know what her issue is.   However, what is causing it will still remain a mystery.

Natalie's doctor asked permission to enter her into a Federal grant medical study being called the next generation of DNA testing.  It will allow us to test Natalie to an extent humans have never been tested.  It simply requires 1 test tube of blood and a slew of questions.  While she is being tested under this grant all of her medical costs and care will be paid!  This testing will allow Natalie to be tested for more DNA abnormalities.  We're excited that she will be part of a program to help future parents and kids in our position. This program starts in January but the actual blood tests won't be taken until early spring.

Here's an update on what Natalie can do now.

• turn her head while laying on her belly
• sit up with little back support
• starting to make cooing sounds
• making some great progress in rolling from her stomach to her back
• eating rice cereal
• has enough strength in her arms to hold a normal size baby rattle

Our goal we would like to have reached by the next time I write: 

To have Natalie's tube removed on January 12, 2012.

Please feel free to ask any questions.  I know that was a lot of medical jumble.  We love you all!

Refreshed

Thank you for all of your prayers.  We're in our first week back from Lyle's fall break and feeling refreshed.  We were able to spend some much needed family time.  We were able to focus on just our family.  God is good and His timing is perfect.

Natalie is doing great with her therapies.  All of her therapists are impressed with how quickly she picks up on  each new exercise they teach her.  She is finally starting to hold her head up!  She's also back to taking full bottles each time she eats.  This past week her smile got a little bigger, she's started making those sweet baby coo's, and can sit up in my lap.

Our next set of appointments are October 31st.  We have a nice break from doctors.  I'll update you as soon as we find out anything.  We most likely won't be getting any test results back until late November to early December.  In the mean time enjoy the beautiful fall weather!

Days blur together

I just want to give everyone a real quick update.  Natalie is doing well.  She had her 4 month check up where she weighed 10lbs 1oz and was 24 inches long.  She has fallen a little behind on her growth, but the good news is she's still growing.   She had a bad reaction to her immunizations.  She had a fever and was too tired to eat by the bottle.  The last 24 hours have been tube feedings, holding, rocking, and all of the other things that come with a sick baby.  However this is the first time that Natalie has been to tired to eat but still able to cry when she was hungry or not happy.

My main reason for this post is to ask for some specific prayer.  Lyle and I are tired.  Our goal for Natalie functioning as a normal child 3-5 years from now is feeling really far off.  Patience is running thin for each other and Isaiah.  We're struggling with shifting blame to each other for what is and isn't getting done as well as who is getting the least amount of sleep.  haha  I suppose it's really comical when you think about it but in the moment it is simply miserable.

Thankfully this next week is Lyle's fall break at school.  He will only have to work his night job.  We really want to be able to take this time and give each other the breaks we need as well as spend some quality time as a family.  When I say we're tired, yes I mean physically but also emotionally.  Pray that we will feel that we are getting more sleep than we are and that we will use our time together in the best way possible for all 4 of us.  We would like to feel somewhat normal again.  lol "good luck"  i know.

Almost 4 months

I finally have a few updates for everyone.  This past month has mainly been a stand still as far as finding out anything more on what's going on with Natalie.  However, there have been many changes in our weekly routine.

Since the last time we chatted Natalie has gained her own PT (physical therapist), OT (occupatinal therapist), and DT (developmental therapist).  Each of these come out to our house once a week.  The PT focuses on Natalie's overall muscle and joint movement to help her with major development milestones such as lifting her head, rolling over, and eventually pulling up onto her feet.  The OT focuses on her fine motor skills such as tracking movement with her eyes and picking up/ reaching for objects.  The DT puts all of it together and helps us integrate all of these things in our daily life.  There is also a possibility she will start using a ST (speech therapist) in he next month or so, which brings us to our most exciting change.  Natalie was able to eat using her bottle only for 15 days in a row.  She would take 80-120ml, between 3-4oz.  Since that time we have increased how much she eats therefore she is back to using her tube for the last part of her feeds.  She hasn't gained weight in about a month but has grown almost 2 inches.  We're hoping the increase in her feeds will help her gain the weight needed.

There has been a delay in allowing Natalie to move on to a heavier flow bottle because her swallow study did not go well.  The circumstances they had her under where stressful and she did not want to eat for them.    However, we also did a lung x-ray and there was no fluid in her lungs; therefore, proving that she is not aspirating more than what her lungs can absorb.  I have a meeting with her ST on Tuesday to discuss the conflicting results of the 2 tests.

We have a new lab that will be sent off to the Mayo clinic to test Natalie for a DNA test of the RAPSN gene.  I haven't been able to find much information on it because it's such a rare test.

In mid-December she will have a CT scan done of her brain to make sure her scull is not closing prematurely.
If we still do not have any answers come December UNC will also perform the EMG/ NCS.  Both of these tests are nerving simply because they have to sedate Natalie.  Sedation is riskier for a baby with low muscle tone.

He ability to move is gradually getting stronger but we haven't hit any new milestones.  Her therapists believes that her low muscle tone is the only thing slower her down.  The way she reacts with her eyes puts her on target for her age.  Her movements are right at a solid 1 month old.

It's been fun to see her personality really starting to come out in the past couple of weeks.  She's trying to talk to us a lot more, and has figured out that a loud cry gets my immediate response.  Her voice is getting a lot stronger and she's taking full advantage of it.