Memorial Day Fun

Kyla had some friends over on Memorial Day to test out my patch job on my church's water slide. She had a blast sliding, while Laura enjoyed playing in the kiddie pool.
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Kyla's Birthday Party

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Birthday Party

We celebrated Kyla's birthday on Saturday. She will be 6 on Thursday. She had a few friends over, and they did lots of girly things. They danced and made bracelets while wearing their favorite tu-tus.

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Kyla's Video Story

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Above is a montage of pictures from Kyla's first 6 years of life. There are a lot of details left out, which you can read by clicking here. You will also notice a lack of pictures of Kyla in the hospital. She had several hospital stays. But we just hoped to get through those events and not chronicle them. Perhaps we should have took some pictures, but we really didn't feel like we could at the time. Although the pictures are absent here, they are still fresh in the minds of Sabrina and I. We also cannot overstate the importance of our Lord, our family, our church family, and our friends between Kyla's 1st and 3rd birthdays. God carried us through some tough times, and He used many of you as His hands and feet. Praise be to the Lord of ALL CREATION, and thank you to all who loved us with His love.
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A blast from the past

As we prepare for Kyla's 6th Birthday Party today, I found these videos and thought I would pass them along. I know my Dad will enjoy them.

Kyla was hanging out with her friend Riley (I believe Kyla was 3 at the time) and Riley's Grammy. They were decorating our church's Worship Center for Christmas when Kyla found the microphone and burst into song. Our music minister Kermit got his camera out and got some of it on video (actually 2 videos). Enjoy.

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Jefferson Elementary Announcements

Yesterday, Kyla got to be a part of her school's morning announcements, which are filmed in the library and shown throughout the school in all the classrooms. She did a great job delivering her two lines.

With only a few days of school left, it is amazing to look back at Kyla's first year in school. She had a few bumps early on, but has come on strong and had a really great experience in Mrs. Herron's Kindergarten class. Thanks so much Mrs. Herron!
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Friends and Family...This one is for you Michelle :)

Just wanted to give a shout out to my friends in Wichita Falls and beyond! I got in trouble from a good friend who is to remain nameless but definitely not faceless!!!

Okay, seriously, we could not tell Kyla's story without many offerings of thanks to family and friends. You all know who you are! We love you all so!

To you, Kyla has always been special outside any disease, label, or bad day! You all make her feel like... Kyla, just the way it should be.

Here's some pics of some of Kyla's biggest fans. Not room for all of you but you all know how much we thank God for you and the support you give!!!

Thanks,
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Goldfish Missing!!

When Sabrina and Kyla walked into Sabrina's classroom, the class goldfish was gone. Kyla was distraught and made a sign to post in the hall so if anyone saw the missing goldfish, they would know where to return it.

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Kyla's story

Kyla's birth


Kyla was born May 29, 2002, 3 weeks before her due date. She was breach, and Sabrina's doctor tried to turn her. In the process, the doctor noticed that Sabrina's amniotic fluid was low. Coupled with the fact that Kyla was very small, we had two choices: wait a week to give Kyla the opportunity to grow and her lungs develop and risk cord damage that can come with low fluid OR have the baby that day and risk underdeveloped lungs. Sabrina and I decided that if her lungs were underdeveloped, we could at least have her flown to Ft. Worth and be treated. On the other hand, if something happened to the cord, there would be nothing we could do. So, Kyla was delivered via C-Section on May 29. She weighed 5 lbs. 9 oz., a little larger than expected. Praise God, she had no breathing problems and seemed to be a normal (albeit very little) baby.





As first-time parents, we didn't know what to expect from our child, so we missed signs that something was not exactly right with our beautiful little girl. The first of which was a failure to suck. Sabrina tried to breastfeed Kyla, but Kyla didn't have the strength to suck. We had been to the classes the hospital had offered, so we tried all the tricks they had shown us. But, our child simply would not take a bottle. Even with a bottle with a large hole in the tip, it took Kyla 45 minutes to an hour to drink a bottle that would take our 2nd child about 5 minutes.



Other signs that all was not right soon followed. Kyla stayed small, which seems genetically logical, since we are not big people. She also got very weak when sick. But, as first time parents, even when we pointed this out to her doctor, we were told not to worry. Kyla seemed to hit developmental milestone, just a later than other kids. She never really crawled, but did get around by planting her head on the ground and pivoting on it. We called it the "Kyla Pivot" and went on.



Kyla's First Episode

All things "normal" in our life left the building 2 days before Kyla turned 1 (May 27, 2003). She had been sick for a couple of days with fever, had been to the doctor, and was on a decongestant. It was a Monday and we were all getting ready for the day. My parents were there to watch Kyla as Sabrina and I went to work. As soon as Kyla woke up, we realized she was in bad shape. We gave her the decongestant, and decided to take her back to the doctor as soon as the doctor's office was open. Then, as she started to struggle a little for breath, we decided to take her to the ER. Sabrina and my mom put her into her carseat and she stopped breathing. She turned purple. Sabrina yelled for me to call 9-1-1, and she brought Kyla back inside. We did rescue breathing and cpr until the First Responders arrived. She was taken to the hospital and put on a ventilator. Later that day, she came off the vent with no problem. She spent a few days in the hospital, including her first birthday. We did not know what the cause of this was. She seemed to aspirate the medicine, but we didn't know why. While in the hospital, we had an EEG to check for seizures. She also had severe eye problems in the hospital, with her eyes turning out and turning in at various times.



The EEG came back inconclusive. So, our pediatrician referred us to a Pediatric Neurologist at Cook Children's Medical Center in Ft. Worth. He ordered several tests including an EEG, MRI, blood, and EMG. Also, we were referred to a Pediatric Ophthalmologist who comes to Wichita Falls once a month. He found Kyla to have poor vision, and he prescribed glasses for her. He also suggested Myasthenia Gravis or a Myasthenic Syndrome as a posibility because of her ptosis (droopy eyelids). This was the first we had ever heard of such a disease. We suggested these things to the neurologist right before his battery of tests. We had the EEG, MRI, blood, but couldn't do the EMG because the doctor who does those had a family emergency (that test would have saved us over a year in finding what was wrong with her). The EEG was normal, MRI was too, but the blood tests led the neuro to believe we had a mitochondrial disease. So, we got an appointment with a geneticist in Little Rock, AR.

We went to Arkansas in November of 2003 for a skin biopsy. While awaiting results of the test, Kyla got sick again.



Kyla's Second Episode

Kyla had her second episode in November of 2003. She was sick and again aspirated on some medicine. She didn't stop breathing this time, but did get to ride to the hospital in the ambulance, and did have to be ventilated. She was taken off the vent the next day. She spent a couple of days in the hospital and then came home. This time, she did not respond well to being at home, and she landed back in the hospital right before Thanksgiving. On Thanksgiving Day, she had what I consider to be her worst day. She struggled for breath all day long. The nurse refused to call a doctor in, so we called our pediatrician ourselves. She was ventilated and flown to Cook's, where she spent several days in the Pediatric ICU. I can't describe to you how weak she was by the time she got to Cook's. She was on the vent for a couple of days and allowed to regain strength before she was taken off. After that, she got better in a few days and went home.



In December, we got the results of the the skin biopsy, which revealed that she did not have a mitochondrial disease. Our neurologist then thought Kyla might have a metabolic disorder, so, in February, we were off to Atlanta for a Muscle biopsy. Results would take a couple of months.

Kyla's third episode
In March, Kyla got sick again and had to be put on the vent and transported to Cook's. We spent over a week at Cook's, including 5 days on the vent.

In April, Kyla spiked a fever and was flown to Cook's for a third time. By this point, our local hospital knew enough about Kyla to send her on as quickly as possible. She was not placed on a vent and spent 4 days at Cook's before going home.

In May, results from the muscle biopsy revealed no metabolic disorder, but did reveal a congenital myopathy with a Type 1 Fiber Predominance. In other words, she's generally weak, with a high ration of slow-twitch muscle fibers to fast-twitch muscle fibers.

So, our neurologist at Cook's handed us to one of his associates. This doctor believed Kyla had one of the Congenital Myasthenic Syndromes and he started her on Mestinon. He also had us do blood tests and sent them to the Mayo Clinic.

Kyla started Mestinon in February of 2005. It was and is "Miracle in a bottle." She responded very well, and blood tests confirmed that Kyla has a Congenital Myasthenic Syndrome and that Sabrina and I are carriers. Kyla was hospitalized locally in Feb. of '05, but did well enough to not have to be transported back to Cook's. SHE HAS NOT BEEN HOSPITALIZED SINCE! PRAISE GOD!

We made the journey to Mayo in August of '05. Kyla had testing done in the morning and we met with the doctors that afternoon. We had hoped to try her on another medicine that patients with her form of CMS tend to respond well to (3,4 DAP), but her EEG that morning showed a risk of seizures (a possible side effect of 3,4 DAP).

In March of '06, Kyla became a big sister as our little Laura was born. Blood was sent to Mayo immediately, but we knew from birth that Laura did not have a CMS. Tests confirmed what we knew. Laura is a carrier, but does not have a CMS.


From then until now, Kyla has done very well. She still gets weak when sick, but doesn't have the respiratory problems she had when she was younger. She's had trouble with urinary tract infections because her bladder muscles don't relax to allow her to empty her bladder. We are still battling this and see a urologist at Cook's on a regular basis. We did find that Ditropan (drug of choice to help stop urinary tract infections) doesn't mix well with CMS. Ditropan relaxes the bladder so the individual can empty the bladder. The problem for us is that it relaxed Kyla's entire body. She could not hold her head up.


Kyla is about to finish her Kindergarten year of school. She's a good student, loves to go to school, and fits in well with the other children. In fact, the kids in her class think Kyla is a normal kid. She has to go to the nurse to get medicine and does receive services for visual impairment, occupational therapy, physical therapy, and orientation & mobility. However, she is doing so well that we are discontinuing pt and o&m.


Kyla does get tired by the end of the day, but she adapts well. She is a slower runner than her friends, but it doesn't seem to affect her ability to fit in.


Her eyes continue to be the window to how she is feeling physically. Kyla's teacher and our closest friends have become experts at observing her eyes and being able to spot when she is sick. Just two weeks ago, her teacher told us Kyla's eyes were drooping and turning out. A day later, she had a fever of 102, strep throat, and an ear infection. After one day on an antibiotic, the fever was gone and Kyla was fine.


We are scheduled to go back to Mayo on June 23. We have had a normal EEG since the last Mayo trip and hope to get started on 3,4 DAP. We also want to stay on the radar of the doctors who are doing research on folks like Kyla.


To wrap up Kyla's stoy, I want to communicate how God has carried us through some hard times. We have experienced so much love from our family and from our friends at Faith Baptist Church and Camp Chaparral. So many people have prayed earnestly for Kyla, and God has answered those prayers. Kyla is a blessing to our family and we thank God for her.
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To update Kyla's story as of February 2010, Kyla is now a second-grader. We have moved to Plainview, TX. She functions in the classroom as pretty much a normal student. She no longer receives services for physical therapy or orientation and mobility. Sabrina is her teacher for her visual impairment and we are thinking about dropping those services. She continues to receive occupational therapy, as tasks such as writing are very challenging and fatiguing for Kyla.

A further update as of September 7, 2012:  Kyla is now 10 years old and is a fifth grader at Gilbert Intermediate in Stephenville, TX.  Kyla loves to read and is a good student in school.  Math is a little more difficult for her.  She seems to struggle with the parts of school that require a lot of repetition with pencil and paper, such as Math skills and Spelling skills.  Although Kyla is definitely not as fast or as agile as "normal" kiddos, she has spunk and does really well at adapting to challenges that life throws at her.  Back in the Spring, she jogged an entire mile without walking, which I'm going to claim as miraculous for a child with CMS.  Besides reading, Kyla loves to swim and watch tv.  Kyla's story continues to evolve and we believe that she is truly our miracle.

A further, further update :)   September 4, 2014
Kyla is now 12!! Yes, you read that correctly!!! As of May 29, 2014 my baby girl is a tween!  She is growing so fast. I look at her now and read this story and remember when I told my daddy, "She'll never be the same."  And at that time as I sat in the PICU with a devastatingly sick child, I really believed she would forever be different. I know now I was right. CMS has impacted her life and she is different!! Thank goodness. She is exactly who God created her to be from day one. I am so thankful for Kyla Ann. She is inquisitive, fun, cunning, happy, and creative. She is not defined by the disease but it has shaped her into the quirky, fun-loving, beautiful, intelligent kiddo she is today. As a 7th grader she still struggles with fatigue, inattentiveness, muscle/ joint paint, sleepless nights, and eye muscle weakness. I think it all just adds to her character and determination to be "just like everyone else".  Whatever that might be. :)   Kyla still takes Mestinon, 4 times daily, and needs breaks and rest. She is able to time her own meds at school and can limit herself physically when that needs to happen now. She is all we dreamed of and more. We love you KY!!

Update: Freshman Year September 2016

Hi friends and family! Just a quick update on Kyla Ann and her journey with CMS. She is a freshman now and I am super proud of the young lady she is becoming. She loves to read, participate in theatre, choir and her youth group. Her transition to high school has been positive and her teachers are awesome!  She is able to talk about CMS and MDA and give her own outlook on the disease and how it effects her body. She is still taking Mestinon 4 times daily and fatigues by mid day. She has overall muscle weakness that appears in her eye muscles frequently. She also has trouble with her right foot/leg being more weak that the other leg. She sometimes seems to drag that foot. Here is what she wrote last year in preparation for MDA muscle walk about her journey: 

I'm not ordinary. I like clothes, books, TV, Dr. Pepper, hanging out with my family, and sleeping. I go to junior high and I make A's. I'm in mostly AP classes and varsity choir. I have brown hair, brown eyes, and lots of freckles. But I'm anything but ordinary.

I have Congenital Myasthenic Syndrome. You're probably thinking, "Well okay, sure, but what is that?" CMS is a form of Muscular Dystrophy. What that means is my muscles don't work properly. I sometimes get really tired and I have to take medicine every day. CMS is not a contagious disease, and there is no cure. Not yet, anyway.

Just because I have a muscular disease doesn't mean I'm dumb. The brain is an organ, not a muscle. Everything else in me works fine but my muscles are messed up. Weird, huh? But this is the way I work: The brain sends messages to the nerves and the nerves pass it to the muscles who perform the duty. In my case my muscles are slow performers. I function fine as long as I take my medicine four times daily. If I don’t, I become tired and sick. When I was really little it seemed like I practically lived at the hospital because nobody knew what was going on with me. I got medicine, eventually, and taking it has become a part of my life. Remembering when to take it however… is a different story.

It doesn’t really bother me. It never has. CMS is just part of who I am. It even has some perks. Take my doctors for example. I go to Ft. Worth for a checkup twice a year at Cook Children’s. My doctors are super funny and I think they genuinely care about each child. But the best part is... Camp John Marc. Camp John Marc is a place where kids with all kinds of complications (from cancer to muscular disease) can meet and hang out for a week. Kids in wheelchairs can zipline, ride horses, go swimming, and do everything kids without chairs can do. I attend the Muscular Dystrophy Association’s Camp for kids with Muscular Dystrophy each year at the Camp John Marc facility. Each year I make a new friend and walk away with half a dozen hilarious stories that will make you fall on the floor laughing. My favorite part about camp is meeting people who have a lot of the experiences I had growing up. I love hanging out with them.

In short, I don’t use a wheelchair. I do my homework. I eat pizza. I read books. I sing. I laugh. I smile.
But I’m not normal or ordinary. What is normal?

Kyla Ann Carter
age 13
September 10, 2015

We are selling t-shirts this year to raise money for MDA Muscle Walk. Here is the info:

Love you all!

Thanks for your amazing support through the years!

Sabrina, Neely, Kyla and Laura

ARD Meeting

We had Kyla's annual ARD ( special education school meeting) today! I am a special education teacher and being on the other side of the table as the parent is definitely "different". She made it through Kinder and we discussed all the info for first grade and the mods she might need due to fine motor weakness and visual fatigue. She really is doing great and we survived the couple of cases of Step Throat and ear infections that come with being with 22 friends everyday. Her body always takes a little longer to recover, but she is definitely no worse for it. Praise God.

She is still having some bladder issues and we go to a urologist again in June for those. We are also going to Mayo again- end of June.

Tonight I keep thinking of the verses in the Word that say "... therefore I will boast all the more gladly about my weakness, so that Christ's power may rest on me...For when I am weak, then I am strong." I Corinthians 12:9-10
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Kyla and Congenital Myasthenic Syndrome

Kyla has a Congenital Myasthenic Syndrome. Congenital myasthenic syndromes (CMS) are inherited muscular disorders resulting from genetic flaws at the neuromuscular junction, where the nerve and muscle cells communicate. CMS is categorized by the part of the neuromuscular junction affected:
Presynaptic (the nerve cells)
Postsynaptic (the muscle cells)
Synaptic (the space between the nerve and muscle cells)
Kyla has a Postsynaptic CMS
Postsynaptic CMS symptoms can range from mild to severe. Symptoms in infancy include severe muscle weakness, feeding and respiratory problems, and delays in motor milestones such as sitting, crawling and walking. Childhood or adult onset symptoms may include difficulty raising the eyelids (ptosis) and fatigue, but usually they don't interfere with daily living.
Treatment depends on the form of congenital myasthenic syndrome (CMS). Drugs used to treat one form of CMS may be harmful if used to treat a different form.
Although CMS shares many symptoms with myasthenia gravis, CMS is a congenital disease, not an autoimmune disease, so it won't respond to immunosuppressant drugs or other therapies used to treat myasthenia gravis.
Kyla's form of CMS is caused by a defect in rapsyn, a protein needed to concentrate the receptor of the neuromuscular junction; this type of CMS also responds to cholinesterase inhibitors (Mestinon) and 3,4-diaminopyridine.
Kyla currently takes Mestinon.

Meet the Carters

Our family consists of Neely, Sabrina, Kyla, and Laura. We have been blessed so much by God through our two girls. Neely enjoys playing and watching sports and cooking. Sabrina is a runner and a reader and a wonderful mother. Kyla loves to play outside and with her friends. Laura loves to do everything big sister likes to do.

The Purpose of this Blog

This blog tells the story of our family, specifically our journey with a child with a rare neuromuscular disease. It is our prayer that our story will bring you encouragement and community.