Tuesday, July 23, 2019

Natalie's Update


It's been several years since this blog has been updated. I'm not sure why we ever slowed down with updates but I suppose it's like most everything else, life gets busy. We've mainly given "Natalie updates" via Facebook over the past few years but I feel that what she is facing in this next season of her life requires a more detailed post.

If you're familiar with this blog then you'll already be fairly acclimated with Natalie. Since before birth Natalie has kept us on our toes and she isn't slowing down now. If you're not familiar with this blog then I encourage you to read some of the earlier posts. The first couple posts will be most helpful to understand Natalie as we know her. It's wild how her early diagnoses or lack there of are still the same 8 years later. Her abilities and disabilities have mostly remained the same while others have gotten worse over time. This post will deal mostly with a few of her issues that have gotten worse and ways that we (and her medical team) are hoping to relieve the symptoms of her "conditions".

Basic overview of Natalie up to this point:

Natalie is disabled. I realize the word disabled is loaded and may not be the correct way of speaking in some situations and applications. However, Natalie in my opinion, is the physical embodiment of the word. Being disabled does not mean that a person cannot do something but rather it means that a person with a disability goes about their day doing things differently. Natalie was born with very low muscle tone all over and inside her body. What this basically means is that ALL of her muscles are much weaker than an average person. Her leg muscles, her arm muscles, her feet, her hands, her tongue, her eyelids...everything is weak. It's amazing she can eat or talk or walk or function semi-normally in general. But she does. Even though she is keenly aware that she has these disabilities it's almost like she doesn't even acknowledge them. She has developed completely different ways of doing everything. For example, when she realized her lips were unable to move taking away her ability to make labial sounds (d, b, etc.) she developed a way to maneuver her tongue and use it as a type of pseudo-lip instead. Or when she realized she couldn't use her lips to give kisses she somehow came up with a way to make a kiss sound and gives kisses the way any other little girl gives her Daddy and family kisses. When Natalie kisses your cheek, it's special. The best way to understand how Natalie's mouth works is to buy the game "Watch Ya Mouth" https://www.target.com/p/watch-ya-mouth-game/-/A-51812560. It's a mouthpiece game that makes it impossible for a person to close their mouth or lips. That's how Natalie is 24/7 but she finds a way to do normal tasks.

Another way that her low tone disability affects her is in the most obvious of ways. Because her muscles are weak it's hard for her to remain upright. Because of this she has developed scoliosis (major curvature of the low and mid spine) and Kyphosis (major curvature of the upper spine and neck, or a "hunch back"). So her body is practically collapsing on itself. The spine curves are bad but are mostly cosmetic however, because of the severity of the curve it causes her weight to compress her lungs and heart. Without correction, to put it bluntly, she would stop breathing and her heart would stop. That's why we decided, with the direction of her medical team, to put in an experimental magnetic growth rod in hopes of slowing this progression of scoliosis and kyphosis. Over the years we now know that the growth rod placed in her back is not working. Her curvature (especially in the upper back and neck) is becoming worse and is so severe that it's almost pointing downward instead of up like it's supposed to. The rod is now pushing it down instead of correcting it.

Since the rod is no longer working and has been failing over the last few years we are now able/forced to try something new. Her former Orthopaedic Surgeon retired this year and he never quite had a solution. He was fantastic to her and cared for her well but just didn't have the resources at UNC to figure out a comprehensive plan to fix her back and neck. After his retirement he was replaced with a relatively young Ortho specialist named Dr. Stone. Dr. Stone came in "guns blazin'" with a plan and a technique that he routinely performed at his former hospital in Atlanta and that is used by several hospitals across the US. The first time he met her he said, "We have to do something about this" and that something is what we're gonna do. On August 26th Natalie at the University of Chapel Hill will have surgery to remove her old growth rod and will begin a new process with a whole new method and technology in hopes of keeping her healthy. The hope is to also correct the scoliosis and kyphosis. The new technology and method is called "Halo Traction Therapy". It's an epic procedure but it's a fairly simple process to understand. She will be the first patient at UNC to have the procedure.

Here's how it works:

- While under anesthesia, the old magnetic rod will be removed and her team will place 8 screws into her skull starting above her eye brows and around her entire head. Then a metal "halo" will be attached to the screws.

- Once out of surgery, slowly over weeks, weights of up to 1/3 her body weight will be added/attached to the halo contraption above her and behind her. She'll wear the halo and weights 24 hours a day. When she's walking, when she's sitting, and when she's sleeping. It does not come off until the end. Over time, with the help of the halo, weights, and gravity it will hypothetically lift and straighten her spine. As mentioned above, this will take the weight off of her heart and lungs allowing her to continue breathing.

- While the pressure is off of her lungs, heart, and spine the docs will take the time to try to fatten her up as much as possible to give her the energy to heal and to grow in ways that she needs to. She'll more than likely be given some form of feeding tube to supplement her usual eating. We don't know if will be a mic-key button or the usual "through the nose" type tube yet.

- Once she is stretched and fattened, the medical team (ortho, cardio, pulmonary, etc.) will decide the next steps. Everything after the surgery is unknown. No one knows how her body will react to the halo or how the docs will proceed from there. There could be a new plan for rods, or a new plan of bracing, or fusing, or any other thing that's out there to fix backs. But, we don't know what strategy yet.

- She'll be at UNC for a minimum of 6 weeks. There is no speculation as to how long after the 6 weeks she'll be there. The docs have told us to plan for "months" of stay.

With this in mind, Joanna and I felt that we should let those who are interested know what we'll be up to over the next few weeks and months. Like everything with Natalie we'll be playing it by ear. We've begun to schedule out staying with Natalie and staying with Isaiah and traveling back and forth from home to the hospital. Between the hospital, school, working, and all that fun stuff it'll be a big adjustment for all of us and a logistical challenge but we're working it out. Our hope is to make both Natalie and Isaiah's lives as normal as possible during this process. Isaiah starts 4th grade on the 7th and Natalie will start 2nd grade then as well. They are going to be in the public school here in Elkin and Natalie's assignments will be done at the hospital.

We're both nervous and excited to be taking another step with Natalie. We always want what's best for her and we know that this surgery is necessary for her livelihood. The straightening success rate for most kids that have this procedure done is overall very positive but since Natalie is the only person of her kind (as her doctors refer to her) we are hoping for the best. We know that it won't completely straighten her out but we're hoping for enough correction that her lungs and heart are no longer in danger. She is aware of the surgery and is looking forward to something being done. She's been in a lot of pain and is excited to have the rod removed.

Once we get settled into a room i'll let everyone know what room we're in and all those details. Visitors, and letters or cards, or any support for her will make Natalie's days in the hospital a bit easier. So feel free to stop by. You don't even need to call in advance...just come on up. She also LOVES looking at facebook and would love to read comments of encouragement. Feel free to share her story and this blog with anyone that may be interested. The more people that are praying, thinking, or overall sending good vibes the better. We'll be posting blog updates while we're in hospital so please bookmark this blog if interested and stay up to date with our Natalie :-).

Thanks for your support!

Lyle, Joanna, Isaiah, and Natalie Sacco


6 months and counting


We finally have an update.

Natalie had her CT scan done today. As a reminder a few of Natalie's doctors were concerned that the front of her scull was closing faster than the back.  This would result in multiple surgeries.  Her doctor read the results and said that her scull and brain were growing normally and there was no need to look any further into surgery.  That alone was a great relief.  I'm thankful to say Lyle was able to take off of work and be there to celebrate with Natalie and me.

Secondly, we have made it 3 months without using Natalie's g-tube!  We met with a pediatric surgery nurse today to discuss having it taken out.  We came so close to having it taken out today but were not able to convince the nurse completely.  However, we have agreed to wait a few more weeks to prove Natalie truly does not need the tube any more.  Hopefully, come January 12th, 4 weeks from today, we will see her g-tube removed.  It was a great blessing having Lyle there for the conversation with the nurse today. We were able to tag team and really bring to light what life at home for Natalie looks like.

This coming Monday we have an appointment with Natalie's neurologist.  We will be getting results back from her last lab.  If it comes back positive there is a strong possibility that Natalie could take a medication that would allow her to catch up with her piers within 2 years.Assuming that comes back negative, we will work on a plan of where to go next.  Do we give up?  Do we take a brake from testing? Are there any new tests?  Do we start over? etc...

Thank you again for all of your prayers!

Thursday, April 25, 2013

The results are in...

...and they're negative.  

Seven months ago I wrote a blog saying Natalie's results from the next generation DNA study should be coming in, within the next few weeks.  Five months later we did finally get her results.  This type of test covers what is referred to as mapping the human genome.  It covers approximately 80% of the genes that make up our bodies.  It helps explain why we think and move the specific ways we do as well as determines possible flaws in our DNA.  Our hope was to get a little closer to knowing what's wrong with Natalie and how we may help her as well has future babies in her position.  We went for a formal meeting where they told us that all of Natalie's results came back normal or in the medical terms, negative.  In fact the one test she had that came back with positive results when she was still in the NICU was redone and came back negative this time.  We find ourselves in the same position as always of just not knowing.  The doctor told us that they would not give up on looking for what is wrong with Natalie but they are lost as to where to go next.  He said that most likely anymore testing done will be the results from some different research project he finds and enters Natalie.

With all of that said, I want everyone to know that Natalie is doing great!  She is learning to walk.  The 2 curves in her back have stopped progressing which means her back brace is working.  She recently had surgery to correct her clubbed feet which has done a phenomenal job.  She's starting to get a little daring and letting go to try to stand on her own.  Her voice is getting louder and her vocabulary is growing.  

She still presents us with some challenges such as loosing her energy quicker than an average 23 month old.  She still cannot move any facial muscles above her bottom lip therefore she can't make sounds such as the m, p, and b sounds, smile, or blow.  She's still using a bottle 50% of the time.  She tires using a sippy cup and cannot close her mouth around a straw.  She understands that she is older and we can tell she's starting to get irritated that she can't do more.  She wants to get down and crawl next to Isaiah when we're playing outside or walking through a store.  She wants to eat everything that we eat but she doesn't have the stamina to eat tougher meats like beef.  

At the same time Natalie continues to astonish us with how she does things differently.  The average child when they start talking say only the beginning of words.  For instance, baby would be "bay" or Isaiah would be "Isay."  However, Natalie does it the other way.  Baby, is "aby" and Isaiah is "Saiah."  She also gets very vocal at the doctor's office.  The last time she was casted she told the doctor, "Go, Go, Go!" while pointing to the door.  The last time at the dentist she pulled her head away and said, "ALL DONE!"  Isaiah just told us the other night after taking a bath with her, "Momma, Did you know that Natalie can talk!"  She also is starting to mimic the tone in people's voices buy using inflections in her speech.  

We have a lot of fun with our family and are so thankful that we all have each other and all of you out there.  Thank you for loving my family and please never forget that we love you too!





Saturday, September 8, 2012

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.


    Monday, April 2, 2012

    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.  :)

    Wednesday, February 1, 2012

    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.


      Friday, December 30, 2011

      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!