Tag: rare disease

Guest Blogger, Medical Issues

Moebius Awareness Day

Barefoot Faith Journey

Moebius Awareness Day

Moebius Awareness Day

I met this sweet family many many years ago. Honestly, I believe her second son was just a newborn and he just turned 18 years old. Seems unreal that time flies that fast. When I learned that Moebius Awareness Day was on January 24th (also my son-in-laws birthday), I reached out to see if she wanted to write about her experience as this was quite unexpected. She agreed.

Meeting This Family

What an honor to bring awareness to this syndrome and I am blessed to know this family. On a funny note, we met at a homeschooling field trip that I had arranged back in the day. It was the airport. I believe I only had five kids at the time and April had two. Her son was in a carrier and Kaitlyn was in her stroller.

My first reaction to seeing this precious little soul was the amount of hair this child has on her head. I mean…the girl has hair and it is dark, curly, and gorgeous! Her eyes were big and beautiful. Honestly, I didn’t realize anything else when we met. This girl child looks just like her mom! Carbon copy. We became friends that day and it has been a joy to watch her expand her family and to just love on them when I can!

Funny Story

We belonged to a homeschooling co-op. I worked with the little people, April worked with toddlers, I believe. Honestly my youngest child, at the time, was three. They went outside to swing on the swing set. When they came in, April found me and said that she thinks she scared my child and that I might need to talk to him. She tried to remedy the situation but felt like he needed more explanation. Once I realized what had happened, we laughed and laughed about it.

As she was swinging her daughter, Kaitlyn, she was in front of the swings. She was grabbing legs and pushing them back as she was helping the kids swing higher and higher. While she was swinging her daughter (with what I’m assuming is my son beside her in another swing), she grabbed Kaitlyn’s legs and her leg popped off into her hands. LOL.

Scared my son to death! I’m still cackling and that was probably 15 years ago! Crisis was averted. We explained that her leg wasn’t real and that it could come on and off…the look on his face was priceless. I could go on and on about her and her family. All stories have an element of love, faith, perseverance, friendship, and food.

Kaitlyn

Moebius Awareness Day

She is gorgeous and hysterical! Kaitlyn is brilliant, capable, and she amazes me! I have loved hearing her play the violin and it terrifies me that she is driving. This isn’t because she isn’t capable it is because in my eyes, she is still 18 months old. Her love of Jesus is unmatched. She is an overcomer and the Lord has amazing plans for her and her future. Honestly, I could just squeeze her to pieces! She is willing, able, capable, and just a phenomenal human being.

April’s Story

This here is my beautiful daughter, our firstborn and the one who made me a mom. This is Kaitlyn.
Moebius Awareness Day
Kaitlyn was born July 12th, 2003, five days past her due date. After a long labor, she entered the world weighing 6lbs, 13 oz. The first words I heard after she was born were serious but kind. “April, look at me. You have a beautiful baby girl, but she is missing her hand and foot.” And at that, the midwife placed this little baby on my chest. I was instantly in love as I looked at her tiny features and fresh, pink skin. She was here. She was mine, my baby girl.
As a side note, I had 4 ultrasounds during my pregnancy. Somehow her abnormalities were missed. And I never once had a concerning thought that our baby wasn’t healthy. Looking back, I am SO thankful that we didn’t know ahead of time. I enjoyed my pregnancy in perfect joy and peace. There was nothing that could’ve been done before she was born anyway.

Diagnosis

Several weeks after her birth we learned that Kaitlyn was born with Moebius Syndrome (or sequence), a rare birth defect that only affects between 2 and 20 babies per million. Moebius Syndrome causes missing or underdeveloped 6th and 7th cranial nerves from lack of circulation early in pregnancy. Those nerves control all facial expressions, lateral eye movements and blinking. Being that it is a sequence (think of falling dominos), it can cause a myriad of other symptoms and syndromes, too. In our case, it also caused Kaitlyn’s left hand and foot not to develop at all, a clubbed right foot, both of her eyes were severely crossed, and she had a high palate and an asymmetrical tongue with limited movement.
Looking back, the grace of God helped us walk through the first several years of her life. We were in a complete whirlwind and I’m not sure we really knew it. We just did all the things. In the early weeks she would just scream and we didn’t know why. I was trying to breastfeed, but after she lost down to 5 lbs.13 oz, we started supplementing my milk with human milk fortifier to add calories to her diet.

Haberman Feeder

Moebius Awareness Day

There was a special bottle called a Haberman Feeder that saved her from having a feeding tube. It was a God send! We would also add formula to my milk when I couldn’t keep up. The nerve damage in her face had kept her from being able to suck at all. I spent countless hours pumping what milk I had left after not knowing that she wasn’t sucking for so long…a new mom problem!  Her daddy would be up during the night for all of her feedings, taking care of her while I pumped every 2 hours. Very slowly, she started to gain weight and following her own growth curve! (But at a year old she was still only in 3 month clothes.) Looking back at those early pictures is very hard. The first six weeks I was starving my sweet baby and didn’t know it!

Speak Up!

Our days were filled with so many Dr. appointments and therapies! It was like a full time job! We had done our research and in turn had to educate every doctor, nurse, specialist and therapist that we saw. Most of them had never heard of Moebius Syndrome. One of the biggest things I learned really quickly is that YOU have to be your child’s advocate! We were told the wrong thing more than once. But after ignoring that little voice inside and things going really wrong (like having to pull her 8 front teeth at a year and a half old) you quickly learn to speak up! Even if you’re only a 20 year old, first time mom.
Moebius Awareness Day
One of the best things anyone ever told us was the nurse at the genetic clinic. As she brought us the freshly printed information on Moebius syndrome the day Kaitlyn was diagnosed, she said something like, “Always remember, she is not her diagnosis. She is first your daughter.” It was so profound to me! I saw her as my daughter who had extra to overcome. I decided to see her as capable until proven otherwise. As she grew I would help her after she tried doing something herself…usually several times. Then we would try to figure it out together! Sometimes I had mom guilt for not making it easier on her. But she has definitely risen to the challenge and has amazed us all!
Moebius Awareness Day

All About Kaitlyn

Today Kaitlyn is 19 years old. She is a joy to be around. Kaitlyn is fun and spunky…and maybe a little bit too stubborn. She is independent and has friends…and a car. Honestly, she has exceeded our expectations!
Moebius Awareness Day
Just for fun, here are things that Kaitlyn can do:
Eat a normal diet
Ride a bike
Make new friends without help from her mom. Ha! (remember no facial expressions)
Swim
Play the violin and piano
Moebius Awareness Day
Put her thick hair in a ponytail
Tie her shoes
Drive a car (or our big van!)
Work a job
Move out on her own
Live in a foreign country
Moebius Awareness Day

God’s Comfort in Moebius Syndrome Journey

To date Kaitlyn has had close to 10 surgeries. I won’t pretend that her life has been easy, because it hasn’t. She is still in pain daily as she pushes through doing things that others don’t have to think about. In the beginning I remember staring at my tiny baby knowing that she would have to go through so much suffering. It didn’t feel fair. When I was searching for answers as to “why”, God led me to the story in the Bible about the man born blind.
In John 9:1-3 it says, As he passed by, he saw a man blind from birth. And his disciples asked him, “Rabbi, who sinned, this man or his parents, that he was born blind?” Jesus answered, “It was not that this man sinned, or his parents, but that the works of God might be displayed in him.”  That gave me so much peace! Her life was meant to display God’s works for others to see. God was in complete control and created her the way He did ON PURPOSE! And He has been with her every step of the way.
The first Bible verse we memorized together when she was a little girl is Psalm 139:14 “I will praise you for I am fearfully and wonderfully made. Marvelous are your works and this my soul knows right well.”
Moebius Awareness Day
Moebius Syndrome has been such a big part of our lives, but not quite as big as we had expected. Kaitlyn is who she is today because of the struggles she has overcome . God knew what He was doing even when we didn’t. He has always had a plan and His grace is enough, this I know!
Moebius Awareness Day

Related Posts

New Video from NORD

Medical Issues, Opsoclonus Myoclonus Syndrome

New Video from NORD

Barefoot Faith Journey

New Video from NORD

New Video from NORD

Here is a brand New Video from NORD. For those who have no clue what NORD is…it is the National Organization for Rare Disorders. This site does not have run-of-the-mill type of conditions. By “run of the mill,” I mean those diagnosed frequently.

Awareness

This site is all of the hardcore, rare, little to no treatment type of condition. I am very excited that Mike Michaelis and his team have worked hard on the OMS Life Foundation.

Who DOES NOT buy things from Amazon? If you do, you can go to Amazon Smile and make all your purchases there. It is the same as Amazon, only this time, a percentage of what you buy goes to a charitable donation.

Amazon Smile does not cost you a dime:

  1. Choose your charitable organization and type in “OMSLife Foundation” (in Cypress, TX).
  2. Select that option.
  3. Anything you spend will help the foundation raise money and increase awareness of H’s condition.

NORD Rare Disease Video Library

“The NORD Rare Disease Video Library houses educational videos on rare diseases for patients, caregivers, students, professionals, and the public. NORD works with medical experts and patient organizations to develop the videos, which are made possible by individual donations, educational grants, and corporate sponsorship. NORD is solely responsible for the content.”

All About Opsoclonus Myoclonus Syndrome

All About OMS

If you click on the above link, it will take you to an awesome video that explains OMS very simply. All the things in my head have formed into a video. I am pleased as punch for them to highlight this condition.

OMS is not a “money maker” because it is so rare. That means funding and research are not done because there is nothing for big pharmaceutical companies to make. These kids are like human experiments. It is all trial and error.

Let’s bring light and awareness to this condition and help kids get a PROPER diagnosis and begin proper treatment. I don’t want another family to deal with everything H has.

 

Medical Issues, Opsoclonus Myoclonus Syndrome

Reflecting on an Anniversary I Would Rather Ignore

Barefoot Faith Journey

Reflecting on an Anniversary I Would Rather Ignore.  It has been 5 years.  So much is the same, yet so much has changed.

But, on this day,

Dys- Learning Disabilities

Our Lives Changed Forever

Anniversary I Would Rather Ignore.

What began as a somewhat normal day.

Turned into……

A nightmare.

Get up at 8:15 am

G got H up and ready to eat breakfast.

He ate normally.

Noticed he was a bit needy.

He wanted to be in my lap, at all times.

He was a bit whiny.

The boys saved me and took him to their room to play with Legos.

That lasted for 10 minutes.

I kept hearing N say “buddy, you are not in trouble…why are you shaking and screaming?”

I called him back into the dining room.

We snuggled.

He still was throwing a fit.

I had him sit on the step to calm down.

As he shook, he cried.

I told him to stop shaking and he could get up.

He stopped.

He ate lunch.

N put him down for a nap at 12:30

We were all relieved because we would have no screaming time.

At 4:15, we got him up.

He was carried downstairs (as normal) and put in my lap.

We snuggled until he woke up.

I told him he needed to sit on the potty (5 steps away).

I put him on the floor.

He screamed.

He Fell

I thought his legs were asleep, so I picked him up and rubbed his legs.

After about 5 minutes, I put him back down to go to the potty.

He fell again.

Concern began to enter my throat from the depths of my toes.

I had N go across the room (about 10 steps away) and I had H walk to him.

He wobbled like he was drunk, cried, shook, and fell.

A Year Ago Today

That’s when I knew……

Our lives would be forever changed.

Please pray for a miracle.

Romans 4:18a “Even when there was no reason for hope, Abraham kept hoping—believing….”

Romans 4:20-21 “Abraham never wavered in believing God’s promise. In fact, his faith grew stronger, and in this he brought glory to God. He was fully convinced that God is able to do whatever he promises.”

Jeremiah 29:11 “For I know the plans I have for you,” says the Lord. “They are plans for good and not for disaster, to give you a future and a hope.”

2 Years Ago Today

He walks, unassisted.

We had our wheelchair ramp removed.

He can ride a tricycle.

Most of the time, he can feed himself.

He struggles with this speech.

Also, with behavior.

Wobbly legs, but better.

Shaky arms/hands are still troublesome.

He runs.

The Meds are working.

God is good.

We have come a long way, but there is still a long way to go.

 

 

Faith Journey, Medical Issues, Opsoclonus Myoclonus Syndrome

The Prophecy and The Call

Barefoot Faith Journey

The Prophecy and The Call

The Prophecy and The Call. Last December, we were at church and getting ready to worship. We have been church hunting for a while and landed on Christian Fellowship. Honestly, we knew the pastor and his wife, as well as a few families. We had not been going very long, but it was different than what we were used to attending. This was originally written on June 21, 2017.

People Watching

Before service started, there was a welcome, and then our pastor called up a man because he had a “word” to give some people in the congregation. We have learned that this is somewhat normal but still very abnormal to our family. We were not used to that. So, we sat and watched this man pace back and forth in front of the congregation.

I am a people watcher/reader, and the thing that caught my eye was that he never opened his eyes when he was pacing or talking. He kept touching the insides of his hands. You could tell that he was uncomfortable but obedient. He said that he had had this word from the Lord. Also, he wanted to make sure that it was from Him and not from this man’s flesh. However, he realized through his sleepless nights that this was from the Lord, and he had to be obedient.

The Word

He said he had a word for someone in the congregation, so we sat, listened, and watched him pace. He made his way down the aisle we were sitting on and stopped in front of Big Daddy. I felt like all the oxygen had been sucked out of the room, and my mind was whirling. He asked Big Daddy to stand up. I looked to the altar, where our pastor was standing, and he gave me a look, a nod, and a smile that it was okay.

This man, whom we had never seen or met, told Big Daddy to hold onto his hand. Big Daddy is not a tiny man, and his hands are ginormous, so when he stands, he is noticed. This man said that the Lord was telling him to “Hold on. Hold on tight to the rope and do not let go. To trust and hold on tight.” I felt an energy move through me, and tears flowed freely. This was strange because I don’t usually cry or get swept up in my emotions. The moment was fleeting, but the air was thick, and I knew, in my soul, we were in for a ride.

Come the beginning of 2017, so many things happened.

My daddy had quadruple bypass surgery. Then, my niece was sentenced, and my nephew was close behind her. My daughter went to military school due to her behavior. Also, we had a family issue involving another baby that was devastating. Oh, let’s not forget my oldest daughter called off her engagement. She was downsized at work. We were also fighting with insurance companies for my son’s needs surgery. Add that to my Lady getting sick. Then, the straw that broke the camel’s back happened. We were reminded to “hold on” throughout the first six mths of 2017.

Even More

Big Daddy and I tried hard to win a case during the incident involving a family member. It was simply out of our hands. We knew what we could do to help the situation and were willing, but it was not our call. As I spoke to a friend, she said I needed to “hold onto hope.” She also noted that the Hebrew meaning of “hope” is “rope,” so hold onto the rope. I caught my breath, texted her back, and asked her who had told her that. She said it was a word from the Lord to me. I asked her if she knew the man who had said the same thing in December, and she did not know him. That is twice the Lord has said to “hold on.” I felt like we had held on pretty well.

My Sister

Then the call came. My sister called me on Tuesday, June 6, 2017. Now, she rarely calls me on a Tuesday. We’ll talk on Monday 🙂 I asked her if everything was okay, and she said she woke up to an odd text. She said it was from a friend, a former neighbor, that she used to walk with around her neighborhood. That friend said that the Lord placed my name on her heart and that she was praying for me. I have never met, spoken to, or even seen a picture of this woman. She knows me from what my sister had said, and I’m sure I wasn’t the topic of every conversation, although I am awesome like that. I told my sister I did not like that, and that meant that something was fixing to happen. My sister told me to take it as a blessing, but I was unsettled.

Daddy

After he got sick, H and I spent almost two weeks in the hospital. I missed my family, was tired, and was over it. The doctors had told me 1005 things, and none of it was good. Thankfully, one day, my sister (H’s Mamaw) came up to give me some respite on MRI day.

She came in and handed me my flatter than a flat pillow, my granny’s quilt, and a gift from my daddy. Again, I am told to “hold on” in some form or fashion. I carry that with me to this day. It reminds me that my heavenly Father and my Earthly father love me and know it will all be okay!

 

 

Depression, Faith Journey, Medical Issues, Opsoclonus Myoclonus Syndrome

A Breakthrough of Letting Go

Barefoot Faith Journey

A Breakthrough of Letting Go

A Breakthrough of Letting Go

Sometimes I don’t even realize I’m trying to control a situation. For a year (or more), the Lord has not moved. 

Then I sit back, and I reflect.

I think about all the phone calls, the late nights researching, the bookmarks I’ve saved, the groups I have stalked, the tests I have read and reread…..but…

Where was my Jesus?

I realized: ~ that my depression was stronger ~my prayer life had waned ~my mood was somber ~my temper was short ~my resolve was shorter ~my study life was nonexistent ~my relationships were strained, and ~my desire to go to church was void.

On June 17, 2018, I found Jesus again.

I say that knowing that I have always had Jesus. He has never left me or forsaken me. Today, He imprinted on me. He gently turned my head back around to face Him. I allowed things to happen that I would generally never let out of fear.

Fear has no place anymore.

As I wheeled my son in church, late, past 1044 people (not really, but it seemed like a lot when your baby is in a wheelchair), I kept my head down. I tried not to make eye contact with anyone. If I did, I would melt into a puddle of tears.

Then I turned around.

There stood friend #1, and before I knew it, friend #2 walked up. There was a brief moment where I explained a few things. Then I had to walk away because I was fixing to lose it. In no way did I want to release that control and let anyone see me cry. From the hallway, I hurried back into the sanctuary, and we were in the middle of worship.

I couldn’t even open my mouth or my eyes.

I just stood there, in the pew, with my head down. There were no thoughts in my head. At that moment, I was trying hard not to cry because I was with my children. I found myself walking to the altar to pray when they began another song. My feet were moving without the permission of my mind. I knelt, and still, there were no words in my head out of my mouth. I just sat there and absorbed the music.

Mamoo

As I was praying, I felt a hand, and I looked over, and Ms. Mamoo was praying over me. She is the most eccentric woman I have ever met. She is stunning with bright blonde and pink hair. Her legs are to die for, and she is about 86 years old. There is a strength in her. She kept telling me to “hold on,” that healing would happen and that I needed to hold on to that statement. I felt my body release. Then, I heard these sounds that thinking back, was me moaning in an animalistic way.

The music stopped.

I hurried through a door to gather myself, alone for a moment. I walked around the corner to check on H. He was beginning to melt down because he could not pick up a whale snack. He kept dropping it and shaking. As I went in to help him, the ladies said there was a man at the door that wanted to speak to me.

I have never seen him before.

This man was emotional, and he asked me to bear with him. He said he saw me wheel my son past him. He felt the Lord leading him to pray over him, and at that moment, he asked permission to do so. I went back into the room and scooped H up. In his next request, he asked me if he could hold H. I was okay with it; strangely, so was H. H was completely at ease with this man.

His prayer

What a beautiful healing prayer this man prayed over my son in the church hallway. I will never remember all the words he said. I do remember the stillness of H. The electricity in that little huddle, the tears that this man and I shed. I was humbled.

Faith.

Our sermon was on faith and how you must tie a knot at the end of the last thread, you are hanging onto. You must trust that you will land on Jesus’ hand if you slip. This sermon was exactly what I’ve been battling with for the last month or so. Jesus has been working on me to have faith. To stand strong, to release control because He knew H before He created the earth. He knew who would carry him, and He knew who was going to raise him. God knew that H would go through this. He already has the perfect provision if I get out of the way and stop controlling the situation.

In the end

I went to get my son. H was gently placed in his chair, and I wheeled him into the sanctuary. Looking up, I saw Richie, our pastor, and before I knew what I was doing, I wheeled him up to the altar. The Lord gave me another huge chunk of my rainbow at that moment. As I looked up, people from all over the sanctuary came forward to lay hands on H, Bart, and me. Mamoo anointed him with oil as she prayed.

There stood men and women of all ages and children. I could hear a gentle roar of prayers being spoken over our son. In the midst of that, I felt a hand on my shoulder. It was a familiar hand, with a familiar smell and a slight tremor. Ms. Jan, through the crowd, touched me. I never saw her face. I just felt the warmth of her hand, and I could hone in on her voice. H never moved. He never cried. He just sat there and took it all in.

 

Medical Issues, Opsoclonus Myoclonus Syndrome

Spotting the Zebra

Barefoot Faith Journey

Spotting the ZebraSpotting the Zebra

Here we are, Spotting the Zebra. Dr. Ehert has been so good to us. So thorough, and she even fielded questions from my sister, H’s grandma. She wanted us to be discharged to Frazier Rehab, across the street, for an indefinite time.

I want to go home, even for just a night.

I realized I needed to see my kids, my kids needed to see me and H. I needed my shower and my bed, even if it was just for a few hours. We had declined the offer to go to Frazier, and I set up speech (he had lost some of his speech), Occupational therapy, and physical therapy. If the doctors were not satisfied with his progress, we would go.

The Hospitalist said that there were really no more tests to run and that we could go home because A) they had no clue what he had, B) there were no more tests to run C) I begged. So, without a diagnosis., we hustled and got out of that hospital. We drove for about 3 hrs and then my phone rang. It was Dr. Ehert. She said that we left without seeing her. I explained that we saw Dr. Bhalla (her fellow) and that she cleared us to go.

Then there was a pause.

She asked me how far out of Louisville we were. I told her I was about 3 hrs from there and a 1/2 hour from home. She explained so gingerly that one of his tests (1 of about 200) came back positive and that we needed to turn around and get back up there to start steroids. I asked her how urgent it was and if I could go home for a bit, and she was hesitant.

She said the sooner they start it, the sooner he could get better. The treatment was to last for five days. She never mentioned a diagnosis, but her voice had a definite concern. I told her that I was going home. There were things I needed to do like getting a shower, seeing my kids, and sleeping in my bed. Ultimately, I would be happy to leave in the morning as long as his life was not in danger. That is what I was going to do. I had to mentally prepare myself to be up there for that long again.

We got home, and it was sweet.

He was so excited to see everyone, and everyone was excited to see him. I jumped in the shower and blew off all that nasty hospital funk. It was glorious. I slept so well that night. About 9 am the following day; we headed out again. I felt more prepared. I knew what to pack and was mentally ready. We got up there, and we could bypass the ER and go to quick admitting. They were expecting us. We met up with the beloved IV team again, and we got an IV started for him and Superman 🙂 They told me they would give him high doses of steroids for the next five days.

Steroids are supposed to make you eat and make you a bit irritable. I could not get this child to eat anything. He wouldn’t even eat a cookie. He did sleep some, but it was restless. After three doses of steroids, he could stand on his own and maybe take a step or two. His tremors lessened. His voice was not as shaky, but his eyes were everywhere!

Phone Call from the Beach

Early the following day, at 1 is, I finally shut my eyes for a moment, and it comes to the nurse. She said that I had a phone call. I think, “who on earth is calling me, on a nurse’s cellphone, at 1 am.” It was Dr. Puri. He is a pediatric neurologist who was calling me from Myrtle Beach. I asked him why he was calling me while he was on vacation, and Dr. Puri said he wanted to ease my nerves.

He is a phenomenal doctor. I have been told that he is well-loved and well-educated and has seen some bizarre things. There was an assurance that there was no worry of childhood MS, which is what I thought he might have because of his symptoms. He said because no lesions were found anywhere. It is doubtful that he has this, he said he believed it to be another autoimmune disease, and he assured me that they, as a team, would figure it out.

New Neuro

In comes Dr. Sweeney. I came close to dismissing him because he looked at my son’s age. I thought that he was a youth volunteer. He said that the team had assembled and discussed our case. They wanted to run more tests but felt pretty confident in the diagnosis. He kicked every other doctor off the case because this was strictly a neuro case, and there was no need for a bunch of Drs telling me their opinions and interrupting our day when they didn’t need to.

We did another MRI of his brain and spine (with contrast) and another CT scan of his chest, abdomen, and pelvic region. They knew what they were looking for now. We did a follow-up urine test, and they “attempted” to draw blood while he was asleep…6 sticks later, they still could not get enough blood. At that point, I put my foot down and told them that if ANY IVs or blood draws were necessary, ONLY the IV team would do this for me.

All Tests Were Normal

Once all these tests came back (normal, I might add), Dr. Sweeney stopped the steroids (he had had eight doses of them), and he started him on IVIg (immunotherapy) for about 6 1/2 hrs. He said when that was finished, we could go home. There was nothing else for them to do or any more tests, at the moment, that they could do. I could do the same thing here as they could there.

They did want me to take him to Frazier for a couple of weeks. I explained that we already had therapy and equipment in place, and they were satisfied with that for now. We would readdress it when we came back for our follow-up appointment. All tests were clear except for high pressure with the spinal tap, and that test was positive for Oligoclonal Banding.

Spotting the Zebra

Dr. Sweeney captured the rogue zebra in a not kind of way. He thought that he had misdiagnosed him with OMS. Sadly, he felt he had Spinocerebellar Ataxia. SCA is confirmed through genetic testing. Whereas OMS is a clinical diagnosis. It turns out that he does not have SCA, and he does not have ATLD1. We are back to the OMS diagnosis.  

 

Medical Issues, Opsoclonus Myoclonus Syndrome

Is it a Rogue Zebra or Something Else

Barefoot Faith Journey

Is it a Rogue Zebra or Something Else

Is it a Rogue Zebra or Something Else

We got to the Norton’s Children’s Hospital ER, and I realized that the calmness I once felt was now moving into the “they are paying a lot of attention to us” moment and “oh crap.” Nurses were moving quickly. We were seeing attendings and not interns or residents. My mama’s gut was screaming, but my outer shell was trying to convince my inner shell that things were okay, and they were overly attentive.

 

All Eyes Were On H

 

Without much of a blink, I had the ER attending, the neuro attending, the peds attending, and there was one other one, but I could not think of who that person was. They got him in a gown. I blinked, and the next thing I knew, they were putting in an IV, drawing vials of blood, and testing his urine. It all happened so fast.

 

Explaining the Last 2 ER Visits

 

When I talked to the attendings, I explained that we had just been to Vandy and what they had said. I told them I might be overly cautious, but it seemed H was getting worse. All I wanted was two doctors, two different hospitals, and two different states telling me the same thing. Once that was done, I would be good to go. The last thing I wanted to do was to stay.

 

Dancing Eyes

 

I blinked again, and when I looked up, H’s eyes were dancing all over his head. It reminded me of one of those reptiles with a third eyelid. Quickly, I got up and hung my head out the door for the attending. I stood, where my face was not visible to H. Before that moment, I was cool as a cucumber the whole time. Sadly, when that third eyelid thing had to be fixed, that scared me. That’s when things started moving a bit faster.

 

Not a Normal Mama

 

I am not the type of mama who always is at the hospital or doctor’s office for every snot rocket, complaint, bent finger or toe, or even blood gushing. I do not subscribe to that in my life. If mama is quiet and the kid is quiet, things can get done and assessed. I told these people that. I apologized for even taking their time because I was sure that everyone would agree.

 

They disagreed.

 

Not even in the slightest.

 

A 6-Day Stay

 

My previously healthy 3-year-old was poked, prodded, sedated, and infused. I was alone (Big Daddy was home with the other kiddos), with a 3-year-old, surrounded by doctors, residents, interns, students, and nurses. There was not one person who would give me a straight answer. I finally cornered one of the doctors, and I told her I was a nice person. I tolerate it a lot. I am also a forthright person, and I do not beat around the bush. The one thing that can get a bee up my drawers is when people are dishonest or dancing around things for me.

 

I understand that they do not have all the test results. I know that they do not know, for sure, what this is. They know what tests they are running, why the people are running them, and what they are ruling out. That is the stuff I want to know. I will not lose my cool. There will not be a time when I will panic, faint, cry, or scream. My job is to be a student of whatever is going on.

 

Student Doctor

 

One sweet little student doctor, who looked like my son’s age, stepped out of his box. He got down on H’s level. This sweet man played with him, connected with him, and was genuinely concerned about him and me. There were days when he would stop by and ask random questions because he was going home and researching. Out of his graciousness, he made me a list of all the tests. Which tests were pending and which had results (and he gave me the results).

 

Also, he took the extra time to write down what disease each test was for, what was ruled out, and what they were looking for within the tests. That list became gold to me. Every time a nurse came in, she would check to see if a specific result had come in. This is what I needed. The list calmed my soul, and I felt empowered and in the loop.

 

The Hospitalist

 

There was another doctor; she was a pediatrician and was the hospitalist for the week. She slammed me between the eyes. This doctor said that he would not get better and that it was an autoimmune disease. They could not pin it down, but the fact that every single day, he was getting worse and much weaker. She said that I needed to see the gravity of the situation. I need to make adjustments at home. I needed to set up therapy. They wanted him in Frazier Rehab for an indefinite amount of time. I was going to be the one who had to feed him. We had to get him fitted for a wheelchair. What was happening was our new life, and I needed to prepare myself.

 

Time for a Meltdown

 

I believe that conversation was the first time I truly had a meltdown. Amazingly, I did not do so in front of all the doctors. I waited until they left. Before my moment, I got my son watching a movie. Then, I stepped into the bathroom and called my sister, H’s grandma. That is when I lost my composure. I could hear H in the other room sweetly saying, “mama, don’t cry. Come out of the bathroom and don’t cry.” I came out. Then I washed my face. Next, we watched Cars for the thousandth time.

 

Choosing Joy

 

I purposed not to let this dictate his life or mine. Adjustments? Fine. I can do that. Therapy? Fine. I can do that. When the doctors came to do rounds again, there were about 12. All of them were timid around me. They would not look me in the eye. I guess they thought I was going to break down. There was a moment, and now my moment was over. I told them that even in times like this, I choose joy. According to God, this would not defeat us. OMS was just a part of our story.

 

I explained that these doctors would see something similar in their future. When they do, they will remember H. Hopefully, they will know what tests to run and what to look for within his body. Also, to realize that God will be glorified. The tone in the room changed. They began to tell me they were praying for us and encouraging me, saying that God can still do miracles.

 

Next, we meet our Neurologist team. 

 

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A Moment I Won't Soon Forget

A Moment I Won’t Soon Forget

A Moment I Won’t Soon Forget was this past Sunday, Big Daddy and I decided that we would go to church with my mama. See her Sunday School Class (the Empty Nesters), as she collected money from the past 2 Christmases and donated it to our fund for Louisville. We put ALL donated money in a plastic money bag and marked it Lville. We use this for gas, to and from, snacks, food, and hotel stays. I made last year’s donation stretch quite a bit. Honestly, we made it almost until the end of the year. This year, they surprised us and did it again. We are so humbled and grateful.

Saying Thank You

My days are short and busy, so getting to the store to buy a thank you card seemed an impossible task. I didn’t know if I could find one that could do justice in expressing ourselves. These people had never met us. They have never met my son, they know what my parents tell them, and it is hard for our parents to understand the ins and outs of this life-altering thing that H has been diagnosed with. I thought it would be best to personally go, introduce them to H and the rest of my family, answer some questions, and thank them.

Donnie

We got there, and their SS teacher, Donnie, stepped out into the hall. When my crew walked in (everyone but my oldest daughter), the look of surprise on my daddy’s face and my Martha’s was a good moment. After being introduced to everyone and them, so graciously feeding my kids. LOL. I looked over, and there stood my daddy with the fellas. He was drinking his coffee. See, the thing is that, growing up, my dad came for holidays and if one of us girls sang. That was it. I never knew him to go to SS, he would slip in for those brief moments in a big church, and then he would leave as quickly as he could.

Realization

In my adult life, I’m pretty sure I’ve never seen him in a church (except for weddings). My mom faithfully has always gone while dragging her kids behind her 🙂 I was overwhelmed by the sight of him standing there. He wasn’t there because he was forced. Amazingly, he was there because he wanted to be there. He was surrounded by men and women of God who love him. He CHOSE to go. He drives by himself.

It is cold outside, like bitterly cold, and since his medical issues (stroke 2 yrs ago and quadruple bypass earlier this year), he can hardly handle the cold. Yet, there he stood. With that grin on his face, he took it all in. He has been in church since God shook him to the core about 11 years ago. During that time, he fell in love with my mama again. Daddy fell in love with God again. His SS teacher is a retired cop. He knows the things my daddy has gone through. He can sympathize and empathize. They are like a little match made in heaven.

Jesus

I am in awe of the goodness of Jesus. I’m blessed to have parents who love each other. I saw my daddy….in a Sunday school class….because he wanted to be there. My heart. My parents had stood in front of me, protecting me from the world besides me as I made tough decisions, and behind me to hold me up when I started to fall. They have done anything that I’ve asked of them and then some. I can never repay them.

My rainbow is growing 🙂

 

Faith Journey, Medical Issues, Opsoclonus Myoclonus Syndrome

A Journey of Healing

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A Journey of Healing

A Journey of Healing

I will only discuss this last leg of our journey as we step out of our finite “reasonable” box and into infinite faith.

Hope

Our journey is hard to explain without sounding like I live on another planet. So trust that God is good even when we don’t understand. That with Christ, all things are possible. HOPE. Here is a taste of what the Lord has been showing me.

Several years ago, my friend shared the story of her daughter’s journey with Lyme disease and how this place, this whack-a-doo treatment, and faith saved her daughter’s life. She tried to explain it to me, but I had no clue what she was talking about, so I listened, asked questions, and rejoiced in her daughter’s healing.

I have mentioned this place to several friends, who struggle with autoimmune issues, and I just put a bug in their ear, and then I give them Les’ number. Take the middle man out of it. I praise Jesus every January because that is when Les and her family stepped out on faith and tried something different than traditional medicine.

June 6, 2017

When H woke up from his nap on June 6, 2017, our lives changed forever. Our first dx was from a local hospital. In reality, a chigger should not EVER go there, but whatever. They diagnosed H with Strep, though he tested negative. “Give him these antibiotics, and he will be fine in 10 days.”

Uhm, did you get your degree from a Cracker Jack Box?

He cannot walk.

Hospital 2

We left and immediately drove to a children’s hospital out of state. We stayed there for several hours and then got the second dx. They said he had Cerebellitis. It is a common diagnosis when a child presents with the symptoms he presented with when we got there. The dr said it would run its course (virus type thing), and he should be better in 10 days.

Yep. That did not sit well with me.

 So, we made some calls to a friend who worked for a Neuro. Another friend has boatloads of experience with Neuros because her daughter has TM. Also, we talked to our parents and my sister (H’s Mamaw). Then we decided to take him to a different children’s hospital and see if that neuro agreed with the first neuro.

Hospital 3

We came home, spent the night, and then I got up early with H and headed to another hospital, alone, genuinely thinking this neuro would agree with the last neuro. Yep, that didn’t happen.

That was the beginning of our worst nightmare.

It is so easy to praise God when all is good in the world. When things are running smoothly, and all things are moving and grooving in a good flow. I picture my family and me sitting around a campfire singing Kumbaya. Then, you see your fire starting to go out, and it is getting cold outside, and you are frantically searching for anything and everything you can burn to get that fire back.

Before you know it, a bird flies overhead and pees on your ember. Your flame is gone, and you are sitting there, cold and in the dark. You think it can’t get much worse but have eaten that last s’more. Now you have no heat, light, or food. It is doable, sucky, but doable. Then the monsoon hits, and you feel like you will never be out of this space, and your fire will never come back.

Offical “Clinical” Diagnosis

Our official clinical diagnosis was made at another hospital. Sadly, there is no definitive test you can do. There is no amount of MRIs, LPs, blood work, X-rays, or EEGs. Nothing can officially say this is what you have. It is a combination of symptoms and what they equal up to after you test for everything else on the planet.

Opsoclonus Myoclonus Syndrome was 1 in 10 million. Once this diagnosis took hold, I did TONS of research. I joined a wonderful online support group and received encouragement and a wealth of information.

Protocol by Dr. Frank Pranzetelli

We started high-dose steroids while hospitalized. We also started our first of many IVIG treatments. IVIG was done monthly. Closely following coming home (in the hospital for about 12 days), we start Rituximab (a type of chemo). The total on that was about four treatments. Since those were not working, we moved to add in ACTH. Acthar (ACTH) is a shot that we give him daily. It is another type of steroid. We did this for about three mths. All this did was to MAGNIFY his rage, insomnia, and severe OCD tendencies. My sweet little boy was not there anymore. He was like a raging animal that always stayed in a fight or flight mode.

Second Opinion

I was getting a second opinion without permission! Dr. Lightner answered so many of my questions. She was open, honest, and forthright, and in-my-face wording helped me immensely. Dr. Lightner was a breath of fresh air, though I did not care what she said.

 She stated that H’s condition was more progressive. Dr. Lightner did not see the ocular flutter, which, to her, ruled out OMS. She wanted to run all the tests again. The previous test had been a year ago. Note that she was wrong. He did have OMS. H was assessed correctly and diagnosed at UPMC in Pittsburgh by the amazing Dr. Kavita Thakkar.

Part 2: Have You Ever Tried to Nail Jello to a Wall?

 All tests returned the same, and while he was at the hospital, the ocular flutter reappeared, making her believe that it was OMS (confusing, I know). So, in the end, we felt confident in this “clinical” diagnosis. She said, in her opinion, she would try the protocol again, but that is something I needed to discuss with our regular neuro, as she was confirming a diagnosis.

Zebra versus Okapi

In the medical field, a ZEBRA means an unlikely diagnostic possibility. It comes from an old saying used in teaching medical students. These students are taught how to think logically regarding the differential diagnosis: ‘When you hear hoofbeats, think of horses, not zebras.’ H was not a horse. We THOUGHT he was a zebra. Then, we discovered that he is NOT a zebra. He is an Okapi (incidentally my all-time favorite animal). They are incredibly rare.

 Unconventional Treatment

As we were finishing up an “unconventional” treatment plan for our son, we decided to give our family a bit of respite—SonRidge Health and Healing Center in St. Augustine, Florida. Dr. Marty Monahan took over the business with Jack Garvy retired.  

I have 11 people in my immediate family. Everyone is going in a different direction. We have one struggling with depression, one planning her life, and one who can’t keep her head above the waves. There is one who is ready to launch, one whose deficit and valley get larger and larger, and one who is stepping into puberty. Then there is the one who can either walk or not walk based on any given day and circumstances.

Add that to a mentally exhausted mama, an overworked daddy, and a strained marriage, and you see that we all needed new scenery.  5 Days After my Son’s Treatment.  

This Happened: My Boy is WALKING

My Boy is WALKING after three intensive days of therapy. I can’t even adequately verbalize my emotions. Amazingly, I watched him stand up by himself. As a result, this was a moment I will never forget. Then, because He is incredible, he RUNS to the ocean. I’m so thankful that I caught that on my camera. I got the best video; ironically, my camera attached a still shot. Yes, it is framed in my house. H, running to the ocean, carrying a stick. Fearless, confident, and strong. I’m amazed at God’s goodness. We still have a long road to go. Realistically, this is an unknown condition. God has healed him. We are just waiting for the complete manifestation of that healing in his little body.

Let’s Absorb

My Boy is WALKING!!!!!!!!!!! He is still shaky, but he is out of that damned wheelchair. Honestly, he does not even need the gait walker. He gets tired quickly, but when he is up, he runs. It is a miracle from God. I know that the stripes of Jesus have already healed him. Today, I have seen with my eyes instead of hearing with my ears.

Meet My Okapi Miracle

What a miraculous moment. God is always good, yet when you see your son walk unassisted for the first time in MONTHS.  You CHOOSE to give God the glory because He is the only one who deserves it.  God is writing H’s story. He has been writing since before He created the Earth.  I get to sit on the sidelines and enjoy the view.

He has all the provisions in place for H. For what he is dealing with and all trials that he is currently going through.  God is good. He is faithful.  Our family will heal. Our son WILL heal.  He is strong, kind, brave, and good. I will hold onto this moment for the rest of my life. My heart almost explodes every single time I see it.

He just got up, running to the ocean. The ocean is his haven and his safe place. The bathtub, not so much. The shower, not on your life. He is not even fond of the swimming pool.  When you see the ocean’s vastness, one would think he would be afraid. 

Fear. It is not in this boy’s vocabulary regarding the ocean.

He is simply fearless.

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Wonder From the Eyes of the Typical

Wonder From the Eyes of the Typical kid has inched into my brain. I use the words “typical” and “atypical” loosely. In my world, there are no “typical” kids or people. We are all a bit screwy from time to time. That is what makes the world an exciting place to live. Not being all alike, it gives areas flavor and personality.

My Reason

I used that terminology because of the movie “Wonder” that I watched last night. You can find a Christian review on this film at Plugged in Online to learn more about the different content of this movie.

They used the word “typical” in the film while referencing their oldest daughter, Via. Their youngest son, Auggie, was born with a deformity. He, too, was a biological child. For the most part, I enjoyed this movie, though it hurt my heart.

My Thoughts

This movie did not depict the strain that raising a medically fragile child can have on a marriage. The ‘parents’ seemed to get along great, and there didn’t seem to be underlying anger/hurt/resentment towards one another.

That, right there, is why this is a movie and not real life.

Raising children with special needs, whether mental, physical, life-altering, terminal, etc., have a great deal of strain on any couple. The pressure does not discriminate on whether the parents are married, co-parenting, etc. It isn’t easy. I know why people do not stay married. The all-consuming nature of special needs children is just that, all-consuming.

The Typical Child

What I feel they were pretty spot-on with is the feeling of the older daughter. The child in the shadows. The child you just let skate on and upward with because they know not to make waves. These children have learned to problem solve, maintain, and stay calm on the outside when their insides are screaming.

Guilt begins to permeate.

This movie made me think about my ‘typical’ kids and what they have seen/heard throughout the years. The pain is unbearable at the thought that I have swooshed them under the rug because I was busy putting out fires of my ‘atypical’ kids.

My kids’ needs range from minor to significant things. We have dealt with everything from Dyslexia to Mild Mental Deficit. Splash in Reactive Attachment Disorder, Fetal Alcohol Syndrome, Deafness, and Opsoclonus Myoclonus Syndrome. You will have my kids in a nutshell.

Be Careful Little Eyes What You See

My kids have seen SO much over the years. I’m so blessed that they are so aware of God and follow (mostly) in His forgiving ways. To think back, it makes me shudder to remember the looks on their faces when the violence would ensue.

I can still hear the still, small voices saying “mama stop” when I had had enough. The fear that would splash across their faces when one child would rage for hours on end. This child destroyed anything and anybody in the path of the tornado rage that was bearing down on us.

My kids didn’t have anyone over. It was not safe at times. They saw me cry more times than I could count. I have learned, over the years, to be mindful of catching my emotions before they run amuck.

Did I lose track of them in those years? Was there too long of a delay before I had had my belly full? Did my other children go unnoticed because of the acts/behaviors of one or two kids?

Be Careful Little Ears What You Hear

The things my kids have heard are horrible. The threats, the evil spewed out, the anger that flows like lava. They have listened to it all. One day, amid a storm (figurative, not literal), I noticed my son. God love him. He was corraling the other children to the back of the house.

I realized that day that he was moving them to safety. He wanted to protect their little eyes and ears from all that was going down. It was at that moment that I took control back.

No more was I going to let Satan rule my house. I was done, oh so done. Everything that I was “taught” to do by the so-called foster care rules, my church, my family, friends, other caregivers, therapists, and doctors…nothing worked.

It was time that I saw the other little faces, and I stopped the insanity that had ruled my home, mind, and heart for too long. I began to stop seeking approval from those that did not have my family’s best interest in mind. There were no more doctors, medications, or therapists. I was done.

James 4:7

“Submit to God. Resist the devil. He will flee.”  James 4:7 This was the verse I would chant while the world raged around me. We made tough decisions in regards to one of our children. A decision that I tried to back out of, but my family and my physician said it was for the best. Tough decisions are sometimes the hardest ones to make but also necessary for survival.

Reflecting on our past is not all a bad thing. I must be mindful to capture the thoughts that are not of God and put them in the place they should be in my mind. From the beginning of time, he knew the children that I would have, and He has made perfect provisions for each of them. I’m so thankful that He has guarded the hearts of our typical and atypical kids from remembering everything.

Hang tough, fellow mamas in the trenches. God has our backs!