I haven't updated this in a while. I am pretty sure no one is reading this anyway. We have had a couple of really bad weeks. John has all of a sudden decided to just start freaking out. At first we thought it was just a sensory issues but after a episode that left me in tears and a whole lot of people looking at us like we needed to be on an episode of super nanny. They think he is in pain or having some type of seizures. So we are on medicine for miagrains. We will see how it goes.
Here is my new favorite song. I have mentioned it before....Dear Mr. God
Dear Mr. God,
I’m writin’ You today
Because it seems like lately
I’ve forgotten how to pray
I know I don’t need this pen
But everybody likes to get
A letter now and then
I’m sorry for not writin’ more
Chorus:
‘Cause I need you
But it’s hard to see
Why anyone as big as You
Needs anything from me
I know You’re there
So how ya been?
I’m alright but I can’t lie,
Sometimes I feel like givin’ in
You’re all I’ve got
Dear Mr. God,
Sometimes I wish
You lived next door
So over coffee You could tell me
What You started all this for
I guess you saw
That sunrise yesterday
Thanks for the reminder
That You’re never gone away
It gives me hope
Telling You what You already know
I need you
But it’s hard to see
Why anyone as big as you
Needs anything from me
I know You’re there
So how’ve You Been?
I’m all right but I can’t lie
Sometimes I feel like givin’ in
Dear Mr. God,
Tell me do You ever cry
When we forget to thank You
For the good things in our lives?
I know I can’t always understand
Why You do the things You do
But I know in the end
I’ll make it through
If I stand next to You
So here I am
Dear Mr. God,
I’m writin’ you today
Because it seems like lately
I’ve forgotten how to pray
Sunday, October 10, 2010
Monday, August 30, 2010
Mitochondrial Awareness Week Sept 19-25
This is the letter I sent to some newspapers and stations.
Did you know that each year between 1,000 and 4,000 children in the United States are born with a mitochondrial disease and suffer from severe and devastating symptoms for which there is no cure and no effective treatment? My five year old son John Ryan is one of those children. We received our diagnosis in 2008 after years of testing. John requires medicine for seizures that are still not 100% controlled. He also has a feeding tube and is globally delayed. We follow several specialist on a regular basis and have hours of physical, occupational, and speech therapy each week.
While John's story is amazing within itself that alone is not why I am contacting you. Mitochondrial Disease Awareness week is coming up Sept. 19-25 and I encourage you to help raise awareness for this devastating disease which can lead to muscle weakness, blindness, deafness, even unexplained strokes, seizures, and eventually death. The disease primarily affects children, but adult onset is becoming more and more common.
The National Institutes of Health recently recognized the importance of mitochondrial disease research by considering mitochondrial disease for an NIH Roadmap for Medical Research. We must act to ensure the Roadmap is approved and adequately funded.
While you may not hear about mitochondrial disease on every t.v. station during awareness week it is an important topic that desperately needs more awareness as well as more research. To learn more go to umdf.org. Thank you for your time.
I hope to get some response as I posted it on facebook as well.
Did you know that each year between 1,000 and 4,000 children in the United States are born with a mitochondrial disease and suffer from severe and devastating symptoms for which there is no cure and no effective treatment? My five year old son John Ryan is one of those children. We received our diagnosis in 2008 after years of testing. John requires medicine for seizures that are still not 100% controlled. He also has a feeding tube and is globally delayed. We follow several specialist on a regular basis and have hours of physical, occupational, and speech therapy each week.
While John's story is amazing within itself that alone is not why I am contacting you. Mitochondrial Disease Awareness week is coming up Sept. 19-25 and I encourage you to help raise awareness for this devastating disease which can lead to muscle weakness, blindness, deafness, even unexplained strokes, seizures, and eventually death. The disease primarily affects children, but adult onset is becoming more and more common.
The National Institutes of Health recently recognized the importance of mitochondrial disease research by considering mitochondrial disease for an NIH Roadmap for Medical Research. We must act to ensure the Roadmap is approved and adequately funded.
While you may not hear about mitochondrial disease on every t.v. station during awareness week it is an important topic that desperately needs more awareness as well as more research. To learn more go to umdf.org. Thank you for your time.
I hope to get some response as I posted it on facebook as well.
Saturday, August 28, 2010
Just an Update
I don't have a clever title today. It has been a tough week for John and myself. Finally after a month of phone tag we got a call back from Dr. Little. We still don't have a lot of answers or rather new answers. I have to start checking John's glucose before and after his nighttime feeds. We also started a vitamin D supplement. We will be seeing the kidney dr. monthly. We are also waiting on other results but it could take months.
John has started his self-injury behaviors again. He has been biting himself to the point he bleeds. We will probably start the sensory diet back up. I need to look at getting/building a wheelchair ramp for John. It is almost impossible to get him up and down the steps.. I will have more to post next month as our schedule increases with dr appointments. I am happy for one month that didn't include travel to a doctor.
John has started his self-injury behaviors again. He has been biting himself to the point he bleeds. We will probably start the sensory diet back up. I need to look at getting/building a wheelchair ramp for John. It is almost impossible to get him up and down the steps.. I will have more to post next month as our schedule increases with dr appointments. I am happy for one month that didn't include travel to a doctor.
Monday, July 12, 2010
Dear Mr. God
I know this sounds like an unusual title but really it isn't. This is the name of a song on the Letters to God soundtrack. It sums up how I feel at times. Sometimes it feels as if you do forget how to pray. In your heart you know that God is listening but you just don't understand sometimes. It is like right now. Our appointment last week went pretty bad. John's kidneys are damaged. It doesn't matter what we do it will damage something else. That is the hardest thing with John's disorder. Due to the fact so many systems being affected we are low in options. We just have to keep hoping and praying. We have another appointment this week. We shall see.
Sunday, June 20, 2010
Some of the Tests are in
As many of you know John had his big appointment in May. Well, they called me with some of the results and they are pretty bad. We can't get the FDA to approve the trial meds. All of John's levels are too high. July 7th I will be talking to John's doctor about seeing a nephrologist. His kidneys are getting worse. We will probably try meds first but his doctor says dialysis will probably be in our future. I am more than a little bummed about this but we will make it work. We always do.
Sticks and Stones and New Shoes
I am horrible at keeping up with my blog. Well, if I had time to type I would have time to work out, have a hobby etc. and that sure isn't happening. Since our issues with VBS he had a rough week. We had a bunch of seizures on Thursday morning. I will tell you it is not a good morning when you wake up at 430 to your child having a seizure. He continued to have them until about 930. That made for a long day even after the seizures.
On Friday I decided to take the kids to the zoo. Three kids, one adult, and a bunch of wild animals I must be insane. On the bright side I didn't lose any! John loves the zoo but since his sensory issues are back in full force it made life interesting and brought the worst out in some rude folks. Everytime we would go up to an exhibit there would be no one there as soon as a group of people would walk up John would have a meltdown. We have contiued to have these issues since the zoo as well.
Monday the 7th of June John and I made our treck to Lexington to recieve his AFOs. He is doing pretty good in them. Due to his weight we are having issues with bruising and pressure sores. Thankfully he can walk in them. He had a rough start at first now it is second nature.
On Friday I decided to take the kids to the zoo. Three kids, one adult, and a bunch of wild animals I must be insane. On the bright side I didn't lose any! John loves the zoo but since his sensory issues are back in full force it made life interesting and brought the worst out in some rude folks. Everytime we would go up to an exhibit there would be no one there as soon as a group of people would walk up John would have a meltdown. We have contiued to have these issues since the zoo as well.
Monday the 7th of June John and I made our treck to Lexington to recieve his AFOs. He is doing pretty good in them. Due to his weight we are having issues with bruising and pressure sores. Thankfully he can walk in them. He had a rough start at first now it is second nature.
Tuesday, June 1, 2010
Things that People Dont Tell You
People tell you a lot of stuff when you become a parent of a special needs child. They tell you that it will be ok. They say it is God's will. They comment that God chose you to be your child's parent. While all of these are true except the everything will be ok part there is a bunch of stuff friends, family, doctors, and even other parents of special needs leave out. First thing first; It is never ok. You have a different level of ok but it is never the same level as it once was. You will never hear anyone say "That sucks." I believe that is the most honest thing someone could say. No it isn't designed to make you feel better but it is true. It isn't said to feel sorry for someone or to roll in pity. There is just no other way to say it.
Someone once told me that you mourn twice once when you realize that something is wrong with your child and once when you child goes to heaven. They left out the part in between. Where there is a lot of joy and triumphs there is a lot of tears along the way. You cry every time when you realize your child is missing out on wonderful opportunities in their lives. I mourned when I realized John isn't playing T-ball like others his age. I mourned when I got a nice dose of reality on what an "average" kindergartener can do. I mourned when I realized last night John can't handle the stimulation of VBS. Then you have all the medical stuff like treatments not working, clubfeet coming back, sensory issues resurfacing, IEPs that tell you how far behind your child really is, and therapies that end with both of you in tears.
Thankfully these things aren't usually back to back. They come with just enough distance for me to refocus on what is really important. John is happy. John is here. John makes progress just in his time. All this other stuff is just that stuff. I know that John wanted to go to VBS. Last night as we were getting ready to go I asked him if he was going to learn about God. He put his hands together like he was praying. He knew. I know that people may think he doesn't understand but I know he does.
The most important thing people don't tell you is how many life lessons these little angels will teach you. Last night after we got home John saw I was crying and he came over and ran his finger down from his eye to his cheek. After everything he goes through he still had the compassion for someone else. How often do we take time from our on personal struggles to show compassion for someone else? I know I care for my family and friends but how many other people need compassion that I just pass by each day. Thank you God for letting John remind me to take time to care for others. Please open my eyes to those in need of a kind word or a helping hand.
Someone once told me that you mourn twice once when you realize that something is wrong with your child and once when you child goes to heaven. They left out the part in between. Where there is a lot of joy and triumphs there is a lot of tears along the way. You cry every time when you realize your child is missing out on wonderful opportunities in their lives. I mourned when I realized John isn't playing T-ball like others his age. I mourned when I got a nice dose of reality on what an "average" kindergartener can do. I mourned when I realized last night John can't handle the stimulation of VBS. Then you have all the medical stuff like treatments not working, clubfeet coming back, sensory issues resurfacing, IEPs that tell you how far behind your child really is, and therapies that end with both of you in tears.
Thankfully these things aren't usually back to back. They come with just enough distance for me to refocus on what is really important. John is happy. John is here. John makes progress just in his time. All this other stuff is just that stuff. I know that John wanted to go to VBS. Last night as we were getting ready to go I asked him if he was going to learn about God. He put his hands together like he was praying. He knew. I know that people may think he doesn't understand but I know he does.
The most important thing people don't tell you is how many life lessons these little angels will teach you. Last night after we got home John saw I was crying and he came over and ran his finger down from his eye to his cheek. After everything he goes through he still had the compassion for someone else. How often do we take time from our on personal struggles to show compassion for someone else? I know I care for my family and friends but how many other people need compassion that I just pass by each day. Thank you God for letting John remind me to take time to care for others. Please open my eyes to those in need of a kind word or a helping hand.
When A Book Isn't Just a Book
Tonight as I was reading our bedtime book which turned into four books :) it amazes me that a kids book can bring you to tears. We have a few that do that. Tonight we read The Tiniest Snowflake. It is about a tiny snowflake who doesn't want to be different and how each snowflake serves a purpose. We received the book before we even knew John had any issues. He and Sam serve such a purpose in this life. Even though John is different from all of our friends children. He does serve a purpose. God has a plan for all of us. I just pray that Todd and I can instill that pride in John and make sure he knows how special he is. The other book we read is The Littlest Angel. When I read it to him while I was carrying him I never realized that it would be anything other than a cute story. As we are faced with John's mortality it makes it difficult to read the book. But he loves it so we do. Thank you God for allowing Sam to be healthy and thank you for allowing us one more day with John.
Monday, May 31, 2010
Catch up 2
1-16-2010
Things are so crazy physically, emotionally, and spiritually. I am worn down all the children being sick this week and doctors appointment have made me very tired and next week is the same. I have to take John to see Dr. Little tomorrow, Sam has his 18mo on Monday, I have to sign the TEIS papers on Tue, than we have John's pulminary appointment on Wed. I wouldn't trade anything but I am tired. Emotionally, the continuing bad news with John gets to me. Made it a pretty emotional day. Spiritually, I pray and pray and sometimes it feels like they are falling on deaf ears. In my heart I know they are not but I get so discouraged. I guess I just need to pray harder.
1-20-2010
I am worried about John. He woke up this morning having a rough day.I need to call Dr. Sharpe about his increase in grand mal seizures. We don't know if it is due to him being sick or his meds aren't working again. I am going to start working on his Make a Wish scrapbook this weekend. He loves looking at those pictures. I can't wait until we go back to Give the Kids the World and see his star. My only prayer is he is with us. Todd and I have faith he will be. It is just scary when he is sick. Hopefully we will get good news this afternoon.
1-23-2010
I have been working on John's Make A Wish Video and a video for the boys. It is hard not to have bittersweet feelings when working on John's. He is so happy but then you remember the price he has had to pay to make his wish happen. He is such an inspiration to so many people. I can only hope I can touch half as many people as he have in such a short time. Sam is so much like him and yet so different. Sam and John are both miracles. Sam was a complete surprise. He came after we got John's diagnosis and the doctor advised us not to have anymore children. John by all accounts shouldn't have been with us past his first birthday but he is still here fighting. God has been touching us everyday with our boys. When my faith is shaken I just look at them and remember all that he has done.
3-9-2010
Today I am a little blah. I think it may be the rain. The rest of the week will be busy. At least it will keep me busy. I wonder why I have so many veiws on my blog but I only have two friends. Whoever is reading I hope you are enjoying it. A few quotes are bouncing around tonight. 1. "I guess sometimes there just isn't enough rocks."-Forrest Gump and 2. "God doesn't put more on your plate than you can handle." Both are so true. God has always brought me through anything that is going on and I have faith that he will continue to do so. I thank Him so much for things he has done in the past and is doing in my life right now. He has allowed John to improve when just six months ago we really didn't feel that he would see his 5th birthday. He has continued to provide for us so I could stay home and take care of the boys. Granny Layne is still with us for now when just last week the family got together to make the choice to allow nature to take its course. Thank you Lord for all that you are doing not just in my life but others as well.
4-6-2010
Usually I handle John Ryan's disabilities with a smile and a cheer for every milestone that we do accomplish. Today I had one of those moments that set you back to the beginning when it seemed progress will never take place. I had to go to John's school for a parents meeting for his upcoming admission to kindergarten. As a set there with all the "typical" parents I just wanted to scream! I wanted to go hide and cry for all the things my precious baby boy will never be. I allowed for a moment all of his accomplishments to be thrown away by what a school system deems necessary for my child to be able to do. Now that I have shed my tears I am refocused on what we can do again.
5-2-2010
Today we had an amazing sermon at church. It was dealing with when the storms come along even the most dedicated Christians ask God "Don't you care?". I look through the storms throughout my life and am in awe at the way he has brought me through them. It may not be in my time frame and I may not know why but I know now that it is His will. I have to remember these times when the next storms develop in my life. I have to trust that He will see me through and not focus on the storm but the fact that I am not between a rock and a hard place but between two good places. If I make it through I am that much better off and if it kills me I will be with Jesus! Thank you Lord for carrying me through the storms of my life.
5-11-2010
Well our appointment in Lexington with Dr. Milbrandt went like I expected which wasn't good. John's feet are starting to turn back in. We are going to have to be in AFO's starting in June(We got measured for them today) for six months. This is bad because even though most children are able to walk in them John will not be able to (they think) because of his texture issues. We did pick out a cute Spider-Man pattern though. If in six months his feet are still turning in they will have to do reconstructive surgery. So from Jun 7th to at least Nov 9th John will have to use his wheelchair all the tim. :( We have made so much progress something like this could set us back 2yrs worth of work. But John is a tough little cookie and we will make this work.
5-13-2010
John's appointment in Atlanta went ok. We got good news and some blah news. John did great for his tests. He only cried once for the spinal tap. We were so proud of him. John's disorder is progressing. We have to start seeing the mito doctor every three months. They are going to put John on a betablocker for his tempature instability and heart issues. We have to have a neuropsych test to see how John's disorder affects his behavior in school and home and how we can better help him. There is a new drug that they have tried in Leigh's disease patients with some success. They are trying to get the FDA's approval to try John on it. So we will see.
Things are so crazy physically, emotionally, and spiritually. I am worn down all the children being sick this week and doctors appointment have made me very tired and next week is the same. I have to take John to see Dr. Little tomorrow, Sam has his 18mo on Monday, I have to sign the TEIS papers on Tue, than we have John's pulminary appointment on Wed. I wouldn't trade anything but I am tired. Emotionally, the continuing bad news with John gets to me. Made it a pretty emotional day. Spiritually, I pray and pray and sometimes it feels like they are falling on deaf ears. In my heart I know they are not but I get so discouraged. I guess I just need to pray harder.
1-20-2010
I am worried about John. He woke up this morning having a rough day.I need to call Dr. Sharpe about his increase in grand mal seizures. We don't know if it is due to him being sick or his meds aren't working again. I am going to start working on his Make a Wish scrapbook this weekend. He loves looking at those pictures. I can't wait until we go back to Give the Kids the World and see his star. My only prayer is he is with us. Todd and I have faith he will be. It is just scary when he is sick. Hopefully we will get good news this afternoon.
1-23-2010
I have been working on John's Make A Wish Video and a video for the boys. It is hard not to have bittersweet feelings when working on John's. He is so happy but then you remember the price he has had to pay to make his wish happen. He is such an inspiration to so many people. I can only hope I can touch half as many people as he have in such a short time. Sam is so much like him and yet so different. Sam and John are both miracles. Sam was a complete surprise. He came after we got John's diagnosis and the doctor advised us not to have anymore children. John by all accounts shouldn't have been with us past his first birthday but he is still here fighting. God has been touching us everyday with our boys. When my faith is shaken I just look at them and remember all that he has done.
3-9-2010
Today I am a little blah. I think it may be the rain. The rest of the week will be busy. At least it will keep me busy. I wonder why I have so many veiws on my blog but I only have two friends. Whoever is reading I hope you are enjoying it. A few quotes are bouncing around tonight. 1. "I guess sometimes there just isn't enough rocks."-Forrest Gump and 2. "God doesn't put more on your plate than you can handle." Both are so true. God has always brought me through anything that is going on and I have faith that he will continue to do so. I thank Him so much for things he has done in the past and is doing in my life right now. He has allowed John to improve when just six months ago we really didn't feel that he would see his 5th birthday. He has continued to provide for us so I could stay home and take care of the boys. Granny Layne is still with us for now when just last week the family got together to make the choice to allow nature to take its course. Thank you Lord for all that you are doing not just in my life but others as well.
4-6-2010
Usually I handle John Ryan's disabilities with a smile and a cheer for every milestone that we do accomplish. Today I had one of those moments that set you back to the beginning when it seemed progress will never take place. I had to go to John's school for a parents meeting for his upcoming admission to kindergarten. As a set there with all the "typical" parents I just wanted to scream! I wanted to go hide and cry for all the things my precious baby boy will never be. I allowed for a moment all of his accomplishments to be thrown away by what a school system deems necessary for my child to be able to do. Now that I have shed my tears I am refocused on what we can do again.
5-2-2010
Today we had an amazing sermon at church. It was dealing with when the storms come along even the most dedicated Christians ask God "Don't you care?". I look through the storms throughout my life and am in awe at the way he has brought me through them. It may not be in my time frame and I may not know why but I know now that it is His will. I have to remember these times when the next storms develop in my life. I have to trust that He will see me through and not focus on the storm but the fact that I am not between a rock and a hard place but between two good places. If I make it through I am that much better off and if it kills me I will be with Jesus! Thank you Lord for carrying me through the storms of my life.
5-11-2010
Well our appointment in Lexington with Dr. Milbrandt went like I expected which wasn't good. John's feet are starting to turn back in. We are going to have to be in AFO's starting in June(We got measured for them today) for six months. This is bad because even though most children are able to walk in them John will not be able to (they think) because of his texture issues. We did pick out a cute Spider-Man pattern though. If in six months his feet are still turning in they will have to do reconstructive surgery. So from Jun 7th to at least Nov 9th John will have to use his wheelchair all the tim. :( We have made so much progress something like this could set us back 2yrs worth of work. But John is a tough little cookie and we will make this work.
5-13-2010
John's appointment in Atlanta went ok. We got good news and some blah news. John did great for his tests. He only cried once for the spinal tap. We were so proud of him. John's disorder is progressing. We have to start seeing the mito doctor every three months. They are going to put John on a betablocker for his tempature instability and heart issues. We have to have a neuropsych test to see how John's disorder affects his behavior in school and home and how we can better help him. There is a new drug that they have tried in Leigh's disease patients with some success. They are trying to get the FDA's approval to try John on it. So we will see.
Catch up 1
The next few blogs will get you caught up somewhat to where we are now. If you are reading this thank you. I hope John's blog inspires you.
John’s Journey
The Beginning
John’s journey for Todd and myself began months before he was born. As we anticipated our mid pregnancy ultrasound like so many other first time parents wondering if we would be having a precious baby girl or a handsome baby boy never did it cross our minds that it would bring news that neither had ever imagined. The ultrasound tech took a lot longer than usual and we could see the frown of concern. Of course they could tell us nothing. As we waited for the doctor to come in our minds raced with the worst possibilities. The doctor finally came in and told us the news; John had bilateral clubfeet. Clubfeet could be the marker of so many other disorders such as Down syndrome, Spina Bifida, etc. Little did we know three years later we would be fighting something far worse.
After the initial shock wore off that our baby boy wasn’t what we expected I jumped into my usual role of being proactive. I wanted to learn about the process of treating clubfeet, the long-term effects, the best doctors, etc. Everything I read was encouraging. I learned the earlier you started treatment the better. I emailed Dr. Ponsetti a doctor from Iowa and discussed his method; which involved no surgery. I began to feel better even though my son wasn’t “perfect” I could live with that. The important thing was that he was healthy and happy. As the date of delivery approached Todd and I were confident we could handle this small curve in the road.
My blood pressure started to rise weeks before delivery and soon I had other complications that led the doctors to induce me at exactly 38 wks. After a labor story that would serve as birth control for most women John was born. I knew immediately something was not right. They immediately took him away only with only a kiss from me. I never heard him cry. The caring nurses and doctor assured me that everything was okay. In my heart I knew they were lying. After they finished with me I convinced them to wheel me down to the nursery where I saw John in an oxygen tent and an IV hooked to him. I was unable to hold him, kiss him, or comfort him. I could only reach my hand in and stroke his little arm. A few hours later they decided that he should be transported to Vanderbilt Children’s Hospital. Todd and I prepared to continue our journey to there.
A Hero is Born
At Vanderbilt John was immediately placed in the NICU where he underwent numerous tests and his first casting for the clubfeet. Night after night Todd and I sat in the room with him watching the monitors and anticipating the news the tests may bring. After three days we were finally able to hold him careful of the IV that was in his head and all the wires attached to his body. Soon after that the results from multiple tests began to surface. John was had a small hole in his heart, pulmonary hypertension, low blood sugar, and an elevated white blood count that indicated an infection. No big deal right? According to the doctor’s, all of these things could be fixed or would resolve themselves.
A few days later we were allowed to take John home. Everything would be okay. We just had a few different doctors a cardiologist, an orthopedist, but we would be okay. Okay became a word that we tossed around to well-meaning friends, family, and doctors that meant we were still in the fight even though we knew that we would never be okay.
A few weeks later I made the heartbreaking decision to put off my dream of becoming an attorney and go back to my college job of being a restaurant manager. The every week and then every other week casting that John’s feet required amidst the constant new appointments John required I discovered I couldn’t work the usual 8 to 5 shifts most professional jobs offered.
We soon discovered a more frightening situation with John. He could only eat 10-15 cc of formula or breast milk at a time. He would sweat, become fatigued, and vomit. We were told due to the hole in his heart eating was like us running a marathon. His weight began to stall. He dropped drastically in the weight percentiles. Along with our concerns about his weight his behavior soon became an area of concern. John hated to be held, he would cry until you set him down. He would not make eye contact nor would he turn his head in response to our voices. There were soon concerns voiced about his hearing. Could he hear us or were our voices falling on deaf ears?
A Search Begins
This began a sudden whirlwind of testing that is continuing today. We had our first ABR at 3 months of age, about the same time as John’s first seizure and John’s first surgery. It is a test that measures the brains response to sound. Thankfully it came back normal. During this time as I have mentioned John endured his first surgery for his bilateral clubfeet and his first seizure activity. The night of the seizure I still remember as if it was yesterday. Due to the casts on John’s legs he could not bathe in a tub for the first year of his life. As I was bathing him on the counter his body began to convulse and stiffen. Off to Vanderbilt we went yet again. Test showed that it definitely was a seizure. The reason though was unknown. Therefore another doctor was added to our growing list a neurologist. After MRIs and EEGs the reason continued to elude us. John was put on medicine that would hopefully control the activity with no avail. At this point as quickly as the doctor prescribed the medicine she took him off of it.
During this time it became more apparent that there was something more wrong with John other than symptoms that appeared to have no connection. The question of the day was what was the connection. A typical child didn’t have the trouble John had eating, gaining weight, poor development, seizures, constant infections with pneumonia, etc. I began my search for something the doctor’s were missing. We began with a testing of cystic fibrosis. Negative. Next we went to genectist where they tested for chromosomal abnormalities. Negative. Their opinion was to wait and see where we were in six months. Wait six months? There was no way. Each day we watched John struggle with feeding, seizures, and just to sustain his body’s functions. I needed answers now! I needed to know what I was fighting.
It was during this time we met a wonderful doctor in Chattanooga at T.C Thompson Children’s Hospital. It was here we first heard the words metabolic and mitochondrial disorder. John underwent another battery of tests to determine if we would receive the diagnosis. After reviewing the tests that our new neurologist at Vanderbilt, we received a shocking discovery. One of John’s tests had indeed come back abnormal. His urine organic acids showed there was a strong possibility John had a neuro-transmitter disorder called Succinic Semialdehyde Dehydrogenase Deficiency. Why was I just hearing these results? I had called months earlier and was told all test came back normal. Later I would find out the doctor didn’t feel that the results were “important”. Armed with this new knowledge we headed back to Chattanooga to repeat the tests. Fear and a quiet acceptance that something was very wrong sank deep into my heart. I knew at that moment any news we received would not be good news. Weeks later it was determined SSADH was not the disease that ravaged John’s body. What was our next step?
The next few months were pretty quiet. We had decided to take a break and just let John be. John had begun a new seizure medicine that helped for a while. He was finally able to roll over at eight months of age. What an exciting day that was! Something that most parents see as a small milestone was such a mountain that we had conquered. You see John had been doing four hours of therapy a week since he was three months old and it took us five months to see any change. Little did we know how far between these victories would be and how quick life would become a whirlwind again.
Shortly after John’s first birthday we had our one-year check up. John just couldn’t put on weight. We had been feeding him baby food for months. He couldn’t tolerate anything thicker and there were some days he was unable to tolerate the baby food. At nine months of age we began enough pediasure to make a typical childe put on twenty pounds. John however was just over thirteen pounds. This was the main catalyst that brought us to the specialists we have now. In July just two months after John’s first birthday we went in for a surgery to install a permanent feeding tube. While doing this the doctors felt that it was necessary to perform a nissen, a procedure where part of the stomach is tied to the esophagus to prevent vomiting. Due to this procedure John is unable to vomit or belch. If any of these things occur John will have to undergo yet another surgery.
Shortly after John’s surgery we noticed his feet were starting to turn back inward. A phone call later I was told the orthopedist could not see John for another six months. After months of casting, a surgery, AFOs, and a dennis brown bar I wasn’t about to wait six months. This decision led us to the wonderful doctors at the Shriner’s Hospital in Lexington KY. However, that appointment came too late. We had to begin the process of casting all over again. John would end up spending eighty-five percent of his first two years in full leg casts.
Months came and went with the feeding tube and new seizure medication. Nothing seemed to make a difference. Hours of feeding, occupational, physical, and speech therapy came and went. I bought all the toys, cards, foods, and books that were recommended and still nothing. John’s body refused to let him gain weight. His brain refused to cooperate with his body and allow him to walk or talk. Finally at eighteen months John was able to sit unsupported. It would be almost a year later before we crawled and even longer before he stood.
After many months of researching our quest led us to the Children’s Hospital of Pittsburg Inborn Error Metabolic Clinic. There the words mitochondrial disorder came up again. So we ran even more tests on John. Six weeks later still nothing. The tests weren’t coming up negative but they weren’t certain what the abnormalities were either. At this point Dr. Schmidt decided it would be best if Vanderbilt ran further tests so we could remain close to home and not travel the hundreds of miles for another surgery. Enter the battle of the egos. Vanderbilt doctors felt that the tests were too expensive and probably wouldn’t yield any concrete results. Finally at my wits end I asked the doctor at Vanderbilt what he would do if it were his child. He said he would take him to see a doctor in Atlanta that specialized in mitochondrial disorders and if he felt it necessary they would run the tests that Pittsburg had requested.
Our meeting with Dr. John Shoffner was a whirlwind of tests and surgeries. We left Atlanta days later feeling confident we would have a diagnosis. He felt that the tests would reveal a mitochondrial disorder. Weeks turned into months and still no word on the results. Our frustration reached a new level as week after week I called the doctor only to be informed the tests were still pending. Finally after three months we received a package that would seal our fate.
The Final Results
I will always remember the day we received the news. The package came from Dr. Shoffner on a Friday afternoon. Fear and anticipation consumed us as we tried to make sense of what we were reading. Lab results saying abnormal spilled off the pages. Finally the words we were looking for came into view. The diagnosis was mitochondrial encephalomyopathy. What did this mean? How did we fight it? Being a Friday evening there was no one to call no one to explain these foreign words we were reading. The entire weekend was spent researching, talking, and praying. Everything we read did not sound promising. How dare the doctors not call with this information. How dare they treat John as just a case and not my beautiful baby. Did we not deserve to be told in person what our fate was?
During the next week I spoke to doctors and found all the answers they could provide. Most were words that gave little hope. They told us John would not get better. Most children die before age one and we were already past that. We would probably not see much more if any improvement in John’s weight and developmental issues. They informed us we should start preparing John’s affairs and prepare ourselves for the road ahead.
I had to tell the journey so you could see how far John has came, what he has been through, and where he will go. Today John is on five different medications most of which insurance refuses to cover. Soon, John will receive his wheel chair that they say he will be permanently confined. John will take steps yet his body refuses to allow him to walk long distances. When tired they say John’s body hurts severely. However, John is still unable to talk so we just do the best we can to decipher his needs. John will require communication device. John has to undergo testing every three months to monitor changes in his body. We have to keep a close eye on his liver and kidneys. With John’s complexes they say he will probably require transplants. Eventually it will affect his hearing and vision. Hearing has already became an issue since they believe there may already some loss. John’s body reacts differently to most to average illnesses. He may require hospitalization for viruses, ear infections, etc.
John Today
Now let me tell you about John the person. John loves to laugh and smile. He has been known to get poked and prodded and minutes later look up at the nurses and just smile as if to say, “It’s okay. I understand you have to do this.” John is an inspiration to all. He is so amazing and strong. I pray that I have even one tenth of his strength. John loves music and dancing. He loves balls and books. He adores his baby brother Sam. He is just an extraordinary little boy.
John receives multiple hours of therapy each week as he has done since he was three months. He has good days and bad. Some days he cries the entire time other days he charms the therapists with his smile and laughter. Despite how he acts he always gives it his best. He will take steps fall down and then get right back up. Every accomplishment he achieves he looks back at me as if to say,” Look at me. I did it.” John loves people. He will sit there at Wal Mart and wave at everyone that passes by him. Some people won’t wave back and he will look at me with this hurt look. So anytime a child is waving at you take time out of your day to say hi. You never know what a difference that can make. On the outside John is just like every other child out there.
The Family Effect
I have learned over the past few years having a child with a medical issue doesn’t just impact the child. It changes the entire family. Sometimes it is for the better and sometimes for the worse.
Recently we had a beautiful addition to our family, Sam. Sam’s story is amazing. On a recent trip to Atlanta I was told not to have any more children until further testing could be completed. Well, a week later along comes a positive pregnancy test. So far Sam seems to be ok. The doctors say there is a good chance he will have an onset. He will probably be tested around a year old to see for certain. Sam is impacted more than he will understand. In addition to working my days off are filled with therapy, doctors appointments with John, and medical tests. Sam doesn’t get as much of my undivided attention as I would like to give him but late at night after John is in bed we play, rock and talk. I just pray that he realizes how much I love him.
Todd my wonderful yet clueless husband, John has changed him. Todd loves John more than anyone could ever imagine. Todd use to be a bit on the selfish side but he now gives up movies for bedtime stories. He recently made the decision to part with collectables just to insure we could afford John’s medicine. Due to my work hours Todd has successfully learned all of John’s medicine and routine. He has learned to change a mickey button. He has sat by John’s bed just so he could vent John when he is sick. He has changed sheets in the middle of the night and everything else. Some of you may think these are things any father would do but I am here to tell you; you are dead wrong. Many men would have run away. Todd traded his fun loving wife in for a person who became consumed with John’s medical care, someone who fights day and night for her child. There are days it makes him question why he deals with me as we all know our loved ones receive the brunt of our frustration. Yet he is still with me and reminds me that he still loves me. I know that Todd would like to do the things he enjoys yet he gives it up to take care of John.
Finally there is me, to most people my life is a whirlwind. I will admit it is. Four to five hour drives for ten-minute doctor appointments, therapy after only two hours of sleep, working ten to twelve hour days after spending countless nights at the hospital, multiple phone calls fighting with doctors and insurance companies, these things make up an average week for me. Emotionally, I am a wire so tight I fear what the end result will be if another burden is placed on my shoulders. I spend so many nights alternating thanking God for giving me one more day with John and asking why my son. I know that if not for God I could not do it. He gives me strength when I have none. He dries the tears few see. He points me in the right direction to get to the right doctors and hospitals. Through Him all things are possible. John has helped me learn how strong my faith can be and trust me I have a long way to go.
Financially we have cashed in all of our 401k to provide the best care for John. We will soon have to make renovations to the house so John has more freedom. Insurance covers some but not nearly enough of our medical bills. John was just recently approved for TennCare. We had to wait until we had over eight thousand dollars in medical bills that could only go back three months. Even with TennCare certain medicines aren’t covered. We still pay about $300 a month in medicine alone. We will have to pay the full price for John’s communication device. Plus there are countless other items John will require. I work fifty plus hours a week and it is still not enough. Todd works forty hours. We will continue to do whatever is necessary to insure John and Sam have the best medical care possible.
I want to leave you with a quote that sums up John, “Someday I will walk, someday I will talk. But today I smile.” Go home and hug your children and realize how blessed you are. I know I am the luckiest mom in the world. Some days I get scared and sad and angry yet I know even if I only have one more day with John all of this is worth it.
John’s Journey
The Beginning
John’s journey for Todd and myself began months before he was born. As we anticipated our mid pregnancy ultrasound like so many other first time parents wondering if we would be having a precious baby girl or a handsome baby boy never did it cross our minds that it would bring news that neither had ever imagined. The ultrasound tech took a lot longer than usual and we could see the frown of concern. Of course they could tell us nothing. As we waited for the doctor to come in our minds raced with the worst possibilities. The doctor finally came in and told us the news; John had bilateral clubfeet. Clubfeet could be the marker of so many other disorders such as Down syndrome, Spina Bifida, etc. Little did we know three years later we would be fighting something far worse.
After the initial shock wore off that our baby boy wasn’t what we expected I jumped into my usual role of being proactive. I wanted to learn about the process of treating clubfeet, the long-term effects, the best doctors, etc. Everything I read was encouraging. I learned the earlier you started treatment the better. I emailed Dr. Ponsetti a doctor from Iowa and discussed his method; which involved no surgery. I began to feel better even though my son wasn’t “perfect” I could live with that. The important thing was that he was healthy and happy. As the date of delivery approached Todd and I were confident we could handle this small curve in the road.
My blood pressure started to rise weeks before delivery and soon I had other complications that led the doctors to induce me at exactly 38 wks. After a labor story that would serve as birth control for most women John was born. I knew immediately something was not right. They immediately took him away only with only a kiss from me. I never heard him cry. The caring nurses and doctor assured me that everything was okay. In my heart I knew they were lying. After they finished with me I convinced them to wheel me down to the nursery where I saw John in an oxygen tent and an IV hooked to him. I was unable to hold him, kiss him, or comfort him. I could only reach my hand in and stroke his little arm. A few hours later they decided that he should be transported to Vanderbilt Children’s Hospital. Todd and I prepared to continue our journey to there.
A Hero is Born
At Vanderbilt John was immediately placed in the NICU where he underwent numerous tests and his first casting for the clubfeet. Night after night Todd and I sat in the room with him watching the monitors and anticipating the news the tests may bring. After three days we were finally able to hold him careful of the IV that was in his head and all the wires attached to his body. Soon after that the results from multiple tests began to surface. John was had a small hole in his heart, pulmonary hypertension, low blood sugar, and an elevated white blood count that indicated an infection. No big deal right? According to the doctor’s, all of these things could be fixed or would resolve themselves.
A few days later we were allowed to take John home. Everything would be okay. We just had a few different doctors a cardiologist, an orthopedist, but we would be okay. Okay became a word that we tossed around to well-meaning friends, family, and doctors that meant we were still in the fight even though we knew that we would never be okay.
A few weeks later I made the heartbreaking decision to put off my dream of becoming an attorney and go back to my college job of being a restaurant manager. The every week and then every other week casting that John’s feet required amidst the constant new appointments John required I discovered I couldn’t work the usual 8 to 5 shifts most professional jobs offered.
We soon discovered a more frightening situation with John. He could only eat 10-15 cc of formula or breast milk at a time. He would sweat, become fatigued, and vomit. We were told due to the hole in his heart eating was like us running a marathon. His weight began to stall. He dropped drastically in the weight percentiles. Along with our concerns about his weight his behavior soon became an area of concern. John hated to be held, he would cry until you set him down. He would not make eye contact nor would he turn his head in response to our voices. There were soon concerns voiced about his hearing. Could he hear us or were our voices falling on deaf ears?
A Search Begins
This began a sudden whirlwind of testing that is continuing today. We had our first ABR at 3 months of age, about the same time as John’s first seizure and John’s first surgery. It is a test that measures the brains response to sound. Thankfully it came back normal. During this time as I have mentioned John endured his first surgery for his bilateral clubfeet and his first seizure activity. The night of the seizure I still remember as if it was yesterday. Due to the casts on John’s legs he could not bathe in a tub for the first year of his life. As I was bathing him on the counter his body began to convulse and stiffen. Off to Vanderbilt we went yet again. Test showed that it definitely was a seizure. The reason though was unknown. Therefore another doctor was added to our growing list a neurologist. After MRIs and EEGs the reason continued to elude us. John was put on medicine that would hopefully control the activity with no avail. At this point as quickly as the doctor prescribed the medicine she took him off of it.
During this time it became more apparent that there was something more wrong with John other than symptoms that appeared to have no connection. The question of the day was what was the connection. A typical child didn’t have the trouble John had eating, gaining weight, poor development, seizures, constant infections with pneumonia, etc. I began my search for something the doctor’s were missing. We began with a testing of cystic fibrosis. Negative. Next we went to genectist where they tested for chromosomal abnormalities. Negative. Their opinion was to wait and see where we were in six months. Wait six months? There was no way. Each day we watched John struggle with feeding, seizures, and just to sustain his body’s functions. I needed answers now! I needed to know what I was fighting.
It was during this time we met a wonderful doctor in Chattanooga at T.C Thompson Children’s Hospital. It was here we first heard the words metabolic and mitochondrial disorder. John underwent another battery of tests to determine if we would receive the diagnosis. After reviewing the tests that our new neurologist at Vanderbilt, we received a shocking discovery. One of John’s tests had indeed come back abnormal. His urine organic acids showed there was a strong possibility John had a neuro-transmitter disorder called Succinic Semialdehyde Dehydrogenase Deficiency. Why was I just hearing these results? I had called months earlier and was told all test came back normal. Later I would find out the doctor didn’t feel that the results were “important”. Armed with this new knowledge we headed back to Chattanooga to repeat the tests. Fear and a quiet acceptance that something was very wrong sank deep into my heart. I knew at that moment any news we received would not be good news. Weeks later it was determined SSADH was not the disease that ravaged John’s body. What was our next step?
The next few months were pretty quiet. We had decided to take a break and just let John be. John had begun a new seizure medicine that helped for a while. He was finally able to roll over at eight months of age. What an exciting day that was! Something that most parents see as a small milestone was such a mountain that we had conquered. You see John had been doing four hours of therapy a week since he was three months old and it took us five months to see any change. Little did we know how far between these victories would be and how quick life would become a whirlwind again.
Shortly after John’s first birthday we had our one-year check up. John just couldn’t put on weight. We had been feeding him baby food for months. He couldn’t tolerate anything thicker and there were some days he was unable to tolerate the baby food. At nine months of age we began enough pediasure to make a typical childe put on twenty pounds. John however was just over thirteen pounds. This was the main catalyst that brought us to the specialists we have now. In July just two months after John’s first birthday we went in for a surgery to install a permanent feeding tube. While doing this the doctors felt that it was necessary to perform a nissen, a procedure where part of the stomach is tied to the esophagus to prevent vomiting. Due to this procedure John is unable to vomit or belch. If any of these things occur John will have to undergo yet another surgery.
Shortly after John’s surgery we noticed his feet were starting to turn back inward. A phone call later I was told the orthopedist could not see John for another six months. After months of casting, a surgery, AFOs, and a dennis brown bar I wasn’t about to wait six months. This decision led us to the wonderful doctors at the Shriner’s Hospital in Lexington KY. However, that appointment came too late. We had to begin the process of casting all over again. John would end up spending eighty-five percent of his first two years in full leg casts.
Months came and went with the feeding tube and new seizure medication. Nothing seemed to make a difference. Hours of feeding, occupational, physical, and speech therapy came and went. I bought all the toys, cards, foods, and books that were recommended and still nothing. John’s body refused to let him gain weight. His brain refused to cooperate with his body and allow him to walk or talk. Finally at eighteen months John was able to sit unsupported. It would be almost a year later before we crawled and even longer before he stood.
After many months of researching our quest led us to the Children’s Hospital of Pittsburg Inborn Error Metabolic Clinic. There the words mitochondrial disorder came up again. So we ran even more tests on John. Six weeks later still nothing. The tests weren’t coming up negative but they weren’t certain what the abnormalities were either. At this point Dr. Schmidt decided it would be best if Vanderbilt ran further tests so we could remain close to home and not travel the hundreds of miles for another surgery. Enter the battle of the egos. Vanderbilt doctors felt that the tests were too expensive and probably wouldn’t yield any concrete results. Finally at my wits end I asked the doctor at Vanderbilt what he would do if it were his child. He said he would take him to see a doctor in Atlanta that specialized in mitochondrial disorders and if he felt it necessary they would run the tests that Pittsburg had requested.
Our meeting with Dr. John Shoffner was a whirlwind of tests and surgeries. We left Atlanta days later feeling confident we would have a diagnosis. He felt that the tests would reveal a mitochondrial disorder. Weeks turned into months and still no word on the results. Our frustration reached a new level as week after week I called the doctor only to be informed the tests were still pending. Finally after three months we received a package that would seal our fate.
The Final Results
I will always remember the day we received the news. The package came from Dr. Shoffner on a Friday afternoon. Fear and anticipation consumed us as we tried to make sense of what we were reading. Lab results saying abnormal spilled off the pages. Finally the words we were looking for came into view. The diagnosis was mitochondrial encephalomyopathy. What did this mean? How did we fight it? Being a Friday evening there was no one to call no one to explain these foreign words we were reading. The entire weekend was spent researching, talking, and praying. Everything we read did not sound promising. How dare the doctors not call with this information. How dare they treat John as just a case and not my beautiful baby. Did we not deserve to be told in person what our fate was?
During the next week I spoke to doctors and found all the answers they could provide. Most were words that gave little hope. They told us John would not get better. Most children die before age one and we were already past that. We would probably not see much more if any improvement in John’s weight and developmental issues. They informed us we should start preparing John’s affairs and prepare ourselves for the road ahead.
I had to tell the journey so you could see how far John has came, what he has been through, and where he will go. Today John is on five different medications most of which insurance refuses to cover. Soon, John will receive his wheel chair that they say he will be permanently confined. John will take steps yet his body refuses to allow him to walk long distances. When tired they say John’s body hurts severely. However, John is still unable to talk so we just do the best we can to decipher his needs. John will require communication device. John has to undergo testing every three months to monitor changes in his body. We have to keep a close eye on his liver and kidneys. With John’s complexes they say he will probably require transplants. Eventually it will affect his hearing and vision. Hearing has already became an issue since they believe there may already some loss. John’s body reacts differently to most to average illnesses. He may require hospitalization for viruses, ear infections, etc.
John Today
Now let me tell you about John the person. John loves to laugh and smile. He has been known to get poked and prodded and minutes later look up at the nurses and just smile as if to say, “It’s okay. I understand you have to do this.” John is an inspiration to all. He is so amazing and strong. I pray that I have even one tenth of his strength. John loves music and dancing. He loves balls and books. He adores his baby brother Sam. He is just an extraordinary little boy.
John receives multiple hours of therapy each week as he has done since he was three months. He has good days and bad. Some days he cries the entire time other days he charms the therapists with his smile and laughter. Despite how he acts he always gives it his best. He will take steps fall down and then get right back up. Every accomplishment he achieves he looks back at me as if to say,” Look at me. I did it.” John loves people. He will sit there at Wal Mart and wave at everyone that passes by him. Some people won’t wave back and he will look at me with this hurt look. So anytime a child is waving at you take time out of your day to say hi. You never know what a difference that can make. On the outside John is just like every other child out there.
The Family Effect
I have learned over the past few years having a child with a medical issue doesn’t just impact the child. It changes the entire family. Sometimes it is for the better and sometimes for the worse.
Recently we had a beautiful addition to our family, Sam. Sam’s story is amazing. On a recent trip to Atlanta I was told not to have any more children until further testing could be completed. Well, a week later along comes a positive pregnancy test. So far Sam seems to be ok. The doctors say there is a good chance he will have an onset. He will probably be tested around a year old to see for certain. Sam is impacted more than he will understand. In addition to working my days off are filled with therapy, doctors appointments with John, and medical tests. Sam doesn’t get as much of my undivided attention as I would like to give him but late at night after John is in bed we play, rock and talk. I just pray that he realizes how much I love him.
Todd my wonderful yet clueless husband, John has changed him. Todd loves John more than anyone could ever imagine. Todd use to be a bit on the selfish side but he now gives up movies for bedtime stories. He recently made the decision to part with collectables just to insure we could afford John’s medicine. Due to my work hours Todd has successfully learned all of John’s medicine and routine. He has learned to change a mickey button. He has sat by John’s bed just so he could vent John when he is sick. He has changed sheets in the middle of the night and everything else. Some of you may think these are things any father would do but I am here to tell you; you are dead wrong. Many men would have run away. Todd traded his fun loving wife in for a person who became consumed with John’s medical care, someone who fights day and night for her child. There are days it makes him question why he deals with me as we all know our loved ones receive the brunt of our frustration. Yet he is still with me and reminds me that he still loves me. I know that Todd would like to do the things he enjoys yet he gives it up to take care of John.
Finally there is me, to most people my life is a whirlwind. I will admit it is. Four to five hour drives for ten-minute doctor appointments, therapy after only two hours of sleep, working ten to twelve hour days after spending countless nights at the hospital, multiple phone calls fighting with doctors and insurance companies, these things make up an average week for me. Emotionally, I am a wire so tight I fear what the end result will be if another burden is placed on my shoulders. I spend so many nights alternating thanking God for giving me one more day with John and asking why my son. I know that if not for God I could not do it. He gives me strength when I have none. He dries the tears few see. He points me in the right direction to get to the right doctors and hospitals. Through Him all things are possible. John has helped me learn how strong my faith can be and trust me I have a long way to go.
Financially we have cashed in all of our 401k to provide the best care for John. We will soon have to make renovations to the house so John has more freedom. Insurance covers some but not nearly enough of our medical bills. John was just recently approved for TennCare. We had to wait until we had over eight thousand dollars in medical bills that could only go back three months. Even with TennCare certain medicines aren’t covered. We still pay about $300 a month in medicine alone. We will have to pay the full price for John’s communication device. Plus there are countless other items John will require. I work fifty plus hours a week and it is still not enough. Todd works forty hours. We will continue to do whatever is necessary to insure John and Sam have the best medical care possible.
I want to leave you with a quote that sums up John, “Someday I will walk, someday I will talk. But today I smile.” Go home and hug your children and realize how blessed you are. I know I am the luckiest mom in the world. Some days I get scared and sad and angry yet I know even if I only have one more day with John all of this is worth it.
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