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.

Home with Natalie

Hello Everyone.  I, Joanna, am taking over Lyle's blogging of Natalie's progress.  Now that we have the family back home Lyle is back to work and starting school in a week.  We decided I would take over the blog.  I apologize ahead of time for my lack of eloquence in my writing.  You'll have to become adjusted to my writing versus Lyle's. :)

Natalie came home early Thursday morning June 23rd.  She was in the NICU just 2 days short of 5 weeks.  She has been home for 7 weeks and 3 days.  Lyle and I are starting to realize we have our daughter and UNC hospital is not going to call us and make us bring her back.

For starters, we have received all of Natalie's tests back including the muscle biopsy.  Everything came back negative/ normal.  In the words of her neurologist, "She is my mystery baby."  She will eventually be tested for more possible diseases but for now the doctors are simply waiting and watching her grow.  The doctors say that 6 months is the age they will start testing again, around November 21, 2011. Natalie's brain will have matured enough to allow better pictures through an EMG.  She will most likely have more labs as well.  However, another muscle biopsy will not be necessary.  Yay!

In the mean time we are going to doctor appointments for 9+ doctors.  Natalie has weekly physical therapy and developmental therapy appointments.  She will begin speech therapy in September.  (speech therapy for infants has to do with they're ability to eat and coo)  Mid-September Natalie will be switched from her foot splints to something called Dr. Brown shoes.  These shoes will be the last stage of correcting her feet.  We don't know how long she will have to wear them.

Her progress:

• She now weighs 9lbs 4ounces!
• She is accepting her bottle again.  She consistently takes 25ml, 1/3 of her bottle, orally every time she eats.  We're working on building that number up without making her too exhausted to want to eat the next time round.  September 1st she will have another "swallow study" to determine whether or not she is still aspirating (sucking milk into her lungs).  If she is not then we will be able to give her a heavier flow bottle nipple that will allow her to take more of her bottle before she tires.
• She lifted her head for the first this past Thursday morning.
• Her major joints are loosening and he muscles are getting stronger.
• She can partially smile.
• She can cry beyond a whimper and is trying to coo.
• She can roll from her back to her side.

Essentially this puts her on track of about a 3-4 week old baby, but is great progress.  Her doctors and therapists have said as long as she is progressing and not digressing the speed of her progress does not matter as much.  The moments that are most encouraging are when we see friends and family who do not see her everyday so they are able to point out how much she has changed.  It's good to be reminded how far Natalie has come.  

There are still many disease Natalie will be tested for that could have a major affect on her life, but for today we will continue on as if Natalie is simply delayed in her development.  Thank you all for reading.  I will update as soon as we find out anything else or as we conquer new mile stones.

Surgery and The Final Stretch

This past week was a very eventful week for Natalie.  She made some improvements, fell behind in some areas, and stayed the same in others.  As far as her feeding (from the bottle) she has fallen behind.

We had hoped that she would learn to drink fully from her bottle before she came home so that she could avoid having to get a "G-Tube".  "G-Tube" stands for "Gastrostomy Tube" and it's simply a small tube that is inserted into the abdomen to deliver nutrition directly to the stomach.  It's essentially a feeding tube that goes straight into her stomach instead of through her mouth.  These tubes can be inserted temporarily or permanently.  In Natalie's case, the doctors think that she will eventually learn how to fully tolerate her milk via bottle feeds but she will need the G-Tube for a time until she learns how to eat on her own completely.  So with this prognosis, her doctors recommended that we go ahead with the G-Tube surgery so that she could leave the NICU and work on her feeding at home with us.  We went ahead with the surgery on Friday.  She went through surgery great and she recovered like a champ.  She is already eating through the tube.  Joanna and I got to give her some of her feeds through the new tube this afternoon and we'll learn all of the ins and outs of the tube tomorrow with her nurses.  The type of tube she was given is super easy to use and a lot less scary than we originally imagined it would be.  It's a tiny little white circle called a Mic-Key button that is about as big as a penny in diameter and it sticks up about 1/2 an inch from the left side of her belly.  It has a little opening in it where we plug in the tube containing her food and then it simply pumps in.  So far, so good.  

Since she now has the tube, her doctors will now evaluate exactly when she can come home.  They are projecting that she will be with us at home by this Friday.  We hopeful that they are correct in this projection but we'll find out for sure later this week.  

Also, i'm not sure if it was mentioned in the last post but both of Natalie's feet and legs have been casted in hopes of straightening them up.  Like we mentioned before, they thought she had clubbed feet, then they didn't, then they did, then they didn't.  Well they decided that regardless of whether her feet are officially clubbed or not that they need to be corrected so that her hips, knees and feet would align correctly as she continues to develop.  Her first round of casts come off on Tuesday and they will assess if she'll need more casting or bracing or anything else like that.  We'll keep you updated on that.  These casts aren't very comfortable as they impede her ability to lift up her feet like she did while she was in the womb (aka up around her head).  So it hurts her to keep the m down all the time but she is getting used to it more and more.  Her occupational therapist and some of the nurses attribute her lack of eating from the bottle directly to the discomfort of her casts.  I tend to agree with them as her feeding did drop off the day that they were put on.  I confronted the doctors on the decision to cast her and they said that if they didn't cast now then they would have to perform surgery later.  So they basically told us that her feeding would probably increase anyway so it would be in her best interest to start correcting her leg/knee/feet alignment ASAP.  So we agreed to let them keep the casts on.  Prior to that conversation I was ready to cut off the casts myself :-)

Also this weekend they decided to do a few more tests on her.  They took a small piece of muscle from her thigh for a muscle biopsy.  This tests the complete makeup of her muscles in hopes of finding out what might be causing her weak development.  One of the things that this biopsy will look for is Muscular Dystrophy.  If it does turn out to be MD we found out that MD has a HUGE spectrum of possibilities. On one end of the spectrum is very little effect on the body to severe physical limitations on the other.  So we're not even going to speculate on any of that until we hear back from the biopsy.  Also most of the metabolic tests will get back this week.  So far, all of the other tests have come back negative or normal still.  So we're just waiting on the rest.

Her vitals are still great.  She is barely even being monitored anymore and she is showing good signs of growth in this first month.  We can finally see all of her face now that her oral feeding tube has been removed.  She continues to become even more beautiful every day.  She's a very petite and dainty little girl but she's tough.  She's gone through a lot already and she continues to impress us with each new challenge she faces.  We hope to have her home this week so that we all can find some sense or normalcy.  I'll be sure to let you all know the specifics this week in regard to her NICU discharge.

Thanks for reading and being a part of the process with us so far.  We appreciate you all and can't wait for all of you to meet our little Natalie.
      

Natalie's Progress

Last post I talked about how Natalie's story was not one that could be easily interpreted.  As we enter into our 3rd week here at UNC that fact still holds true.  So far the doctors have run many tests including MRI's, Ultrasounds, Blood Tests, Urine Tests, and Metabolic Tests.  Every test so far has come back as negative or normal.  This is still good news.  Yesterday our doctor told us that if the last few remaining tests come back negative or normal then we'll either have to assume she is slow in developing and she will simply grow up OR we will be able to determine what might be wrong with her as she continues to age. Basically what this means is, the doctors can't figure out why she has some issues and they have run out of tests.  So the update as far as her overall well being is still, unknown but positive :-).

As far as her everyday accomplishments she is doing awesome!  Joanna and I have been able to feed her bottles to supplement her regular feeding tubes meals.  She still has a weak suck but it is improving as each day goes by.  Her nurse is very excited because when she first met Natalie she looked at her and thought "this baby sadly will always be fed through a tube because of her lack of ability to suck".  However, Natalie takes over half of her food via bottle now and her nurse says that she has never seen such a strong willed baby before.  Natalie is determined to eat and that is great!  She gets tired feeding and rarely makes it through a feeding session without falling asleep but she fights as hard as she can.  Also, she is steadily gaining weight.  She just broke the 6 pound mark.  She is gaining at a normal rate and should continue to do so especially as she is taking the bottle.  Another concern with the doctors are her hips and legs because she was so oddly positioned inside of Joanna.  She was in the breach position but her legs were WAY up around her head.  Therefore, she was so used to having her legs up there that it is hard for her to move her hips and legs down in a normal position.  So today they are going to put some casts on her feet and part of her legs (I think) in hopes of this allowing and forcing her hip muscles to relax and position normally.  We don't know how long the casts will be on though.

Other than these things she is a typical baby girl.  She looks around and stretches and grunts like most 3 week old babies.  She still doesn't cry much but I'm just going to be thankful for that at this point haha.  As far as when she will be able to come home, the doctors told us that when is considered stable and her feeding increases enough then she'll be able to come home.  Well she is now considered "stable" and they started her feeding evaluation on Monday and they said next Monday (the 13th) they will be able to give us a more realistic timeline as to when we can go home with our little gal.

We're thrilled with her progress and hope she continues to exceed all of the doctor's expectations.  She still might have some issues but we are so, so, so happy to have our little girl. Thanks again for all the prayers and kind words. I haven't been able to post many updates because there is only one computer available at the place we are staying and it gets shared between 30 families haha.  I will keep you all posted though :-)


P.S.- The head Neonatologist said that she was the best dressed baby in the NICU.  Mainly because of all the dresses that her Daddy is picking out for her to wear :-)

And sorry for any typos. I'm sleepy haha.