Journal 2004

It's so easy to count our blessings of health, family and happiness when the world is wheeling from a blow of mother nature -- the horrible tsunami. Our hearts and prayers go out to all the families affected by this horrible act of nature as well as to the families that have recently (or not so recently) lost their love ones to SMA. We feel blessed by each and every healthy day we have with our beautiful family. Please hug each other for us and Have a safe and happy New Year's eve.

One piece of VERY EXCITING news that we got right before Christmas I forgot to share . . . After only one appeal, our insurance company has approved two very important pieces of equipment for Charlie. A Tri-Stander which will allow him to "stand" and do weight bearing through his legs. This will help with bone development, respiratory health, intestinal issues etc, etc. We are so excited to get this started! But the MOST fun will be a POWER Chair! So little Charlie can move on his own! We are so excited. I can't even imagine my emotions when he can move from point A to point B all by himself -- the way he'd be doing on his own if it weren't for this horrible genetic disease he was born with. We are just waiting to get final faxes sent to the DME so we can start the process. I don't know how long each will take, but I'll be sure to post loads of photos! Yippee!! What a GREAT and the BEST Christmas present! Hugs!

Hope you all had a wonderful Christmas full of family, fun and happy times. We had a great Christmas. Everyone was healthy and that is the blessings we love the most. We were able to spend Christmas eve with my mom, brothers and sister-in-law and nieces and nephews. Charlie and Lily had a ball! We were out way too late and Charlie was a trooper as usual, his sister Lily, well, let's just say we are experiencing the terrible twos now that she's three :0). We had a great morning Christmas morning. Lily was so excited that Santa came! We had fun opening way too many presents! We hope that all of you were able to experience the joys of the season as well. Blessings!

Just thought I'd write another update even though we are doing just fine and really don't have any news. Charlie is remaining healthy and strong. He didn't even catch Lily's cold. Although, we are still knocking on wood. Charlie is repeating and learning so many new words. He is so adorable and we are quite proud of him. Lily remains a very wonderful big sister, although whenever she sees babies -- she's asking for another little brother or little sister. I wonder what Charlie would think. We will be home this Christmas and are looking forward to a visit after the holidays from another one of John's sisters. So far, we've seen everyone in the last few months. They are so good about coming to visit here so we can stay home and not travel for awhile. Charlie received a new computer adapted switch interface and a few computer games for Christmas from his aunts and uncles. We spent more than an hour playing today on the computer. He laughed and sang. It was great. A Big thanks to them for another great way to keep Charlie happy and stimulated.

Charlie's Grandpa made him a very special table. Charlie can sit in his tumbleforms chair and play with his switch toys as well as some other toys. It is just perfect. It supports his elbows which for Charlie is so needed and it also has a rim around it so that his cars and trucks don't roll away. We send big hugs and thanks to Grandpa for his craftmanship and to Grandma for the wonderful paint job. I'll be sure to post some photos soon. All else is well. Charlie is fine and Lily seems to be getting over her cold. Maybe we've avoided getting Charlie sick once again.

We had our first big scare this morning. Charlie actually slept in until about 7:45. I was enjoying the extra lazy time because Lily was still sleeping as well. I heard Charlie start to stir, so I went in to get him up and nurse him. I got everything disconnected and realized that his Mic Key button had fallen out. This is the button that connects to his internal feeding tube. My heart started racing. What if the track had closed up? How long had the button been out? How do I put it back in? Do I go to the ER? Try to do it myself? Well, I yelled to John since he was still home by luck (his parents were still in town from the weekend) and we raced downstairs. I grabbed the spare button and tried to put it in. It slid in very easily and so I filled the balloon that is under the skin with water to hold it in. I was so worried -- did it go in right? How do you know? So, I picked up the phone and called both Liz and Krystal -- two moms here in town with SMA kiddos for help. They both felt that we were all right as long as it went back in without any problems. So after a quick 25 minute scare, we were able to calm down and get on with our day. The reason it was so scary to me, is that we were warned when we first left Madison, that if it fell out to rush to the ER since the tube inside could close up. Then when we went back for our check up, they didn't want to take it out to show me how to change it because they thought it was too soon and didn't want to risk it closing. Now, of course, that was a few weeks ago, but still, I had never change the button myself -- nor have I seen it done. I knew that in 4-6 months, I'd have to change it on my own, but was planning on either going into Children's Mercy to have them watch me, or having one of the other Moms come help the first time. I guess I learned that it wasn't that bad to change it by force of nature. So all I can say is whew. What an adrenal way to start the morning :0) Charlie is doing great other wise. He's still his ever-bubbly happy self. Lily is wonderful as well. Such a big help and happy big sister. She has a pretty bad cold right now, so I'm worried that Charlie will catch it. So, I'm being antibacterial gel queen even more so than usual. We hope all is well with everyone else. Hugs - Kim

We hope everyone had a wonderful Thanksgiving. Ours was pretty quiet. Had a nice dinner with my family at my mother's. Lily loves playing with her cousins, so we didn't see too much of them. They were downstairs or off having tea parties. Charlie went down for a nap right when we got there and slept almost the whole time. I wanted Charlie to wake up in time for some dinner (but he didn't). He was up in time to enjoy pumpkin pie and whip cream though. We are all healthy and very thankful for that. It's been a great year so far as we've avoided any bad colds or the flu. We know we have a lot of winter left, so we'll keep our fingers crossed for good health. We hope everyone had a Wonderful Thanksgiving. And may the rest of your holidays be merry too.

A lot has happened since we last posted. Charlie, Grandma Joyce and I went back to Madison for a follow-up with the surgeon Dr. Shaban and wonderful Dr. Schroth. Dr. Schroth noticed that Charlie had lost a little weight, so she had us meet with the nutritionist to help us figure out what we can add to his diet. (I, of course, came back here and talked to the resident "SMA Nutritionist" Liz and figured out what we thought would work best.) We had a nice visit with all the wonderful people at UW and then headed to Waterloo, Iowa to visit Charlie's Great-Grandparents, two Great Aunts and a Great Uncle. Charlie loved hanging out in his 94 year old Great-Grandfather's arms. He would giggle and giggle. And then just stare across the room at Great-Grandma and Great Aunt Diane. We also saw his Great Aunt Jean and Great Uncle Clarence. Charlie had fun singing "e-i-e-i-o" with Aunt Jean. It's his favorite thing to do -- sing Old MacDonald. After our short visit, Mom and I hit the road home. After three days of travel, doctors visits and more travel, it was so nice to get home to Daddy and Lily. It was too funny, Lily wanted to stay at the Madden's house for "five more minutes". Guess she didn't miss us too much :0) We know are ready to get back into our routines, get ready for the holidays and catch up on some sleep. By the way, Charlie is doing great on Bi-Pap as well. He sleeps all night now. Of course, he still wakes up and wants to change positions, but with a quick roll over he's back to sleep. Thank goodness for the g-tube feedings at night. No more waking up to feed him every four hours. Take care -- hugs to all.

Sorry it's been a few days since I've been back. We had visitors in town all weekend. It was great fun. Charlie's Aunt Mary, Uncle Tim and Cousin Claire (7 months) came for a visit. Lily had a blast playing with Claire and Charlie wanted to touch her whenever he had the chance. It was nice to visit and to see Charlie laugh at the antics of his sister and cousin. We are heading back to Madison tomorrow for a check up and upper GI. I know the trip will be uneventful because Charlie is doing so well. He hasn't had any problems with the new tube and is adjusting well to sleeping and not nursing all night :0) And the most amazing things is that he doesn't fight the Bi-pap at all. He goes right to sleep. If mom were just a little better getting the mask and bonnet on, he wouldn't fuss at all! He goes anywhere from 8-10 hours on it at night -- so I'd say we are doing great! We look forward to getting a clean bill of health and hope that Charlie can start eating solids again. He's tired of only baby food and wants bites of what we are having all the time. We will touch base again when we get home. We are swinging through Waterloo on the way home to see Charlie's 94 year old Great - Grandparents as well as a few great aunts and a great uncle. It will be fun to see so many generations together!

Howdy - Hope everyone had a very Happy Halloween. It was rainy and cool here, so Charlie stayed home with me and answered the door. He thought all the kids and costumes were pretty fun. Lily had a good time trick or treating with her daddy. I ordered a batman costume for Charlie -- but when it came, it was WAY too small. So Charlie was a Giraffe (Lily's costume when she was 1) and Lily was a crocodile again. Funny that she doesn't want girlie things -- but a croc two years in a row. I'll post photos. We had a visit from Kalair in her beautiful wedding dress. She and her mom are our angels. Kalair is almost 5 and has SMA Type I just like Charlie. We get a lot of our information and most of our advice from them. We are blessed by our new SMA family. We head back to Madison next week for a check up. They want to do an upper GI and then just check out Charlie. He's doing great and sleeping so much better on his BiPap. All night!!! What a wonderful thing to be able to feed him through his tube and keep him sleeping longer and better. He'll wake up once and kind of fuss, but goes to sleep with a few pats on his back and a change in position. He gets sore because he can't move around like we do when we sleep. Oh well, enough rambling for now. We are going to dinner tonight with Mom since it's her birthday. Blessings to all - Kim

Just a quick update. Charlie is doing great -- you would never know that he underwent surgery a week ago. He is such a trooper and an inspiration to us all. We finally started using the g-tube for night feeding last night. We had to wait to get the pump and then had to find a way to get some of the tolerex that we'll be using to supplement him at night. Thanks to a wonderful SMA friend, we were able to get a few boxes to get us started. We didn't get the sleep that we thought though. Charlie woke up twice and I just needed to pat his back to get him to sleep. Almost seems easier to nurse him and put him back to bed :0). I'm sure we'll get use to it... The other good news is that Charlie is sleeping longer and better on his bi-pap. I think the hospital stay was just what we needed to get him more use to it. He still doesn't love it, but he tolerates it better now. Hopefully, in a few days, he'll sleep through the night! That's it for now. Hugs to all.

Hi to all! We are BACK from Madison and we are so happy to be home. Charlie did so well that he was released from the hospital sooner than originally thought. He was only in the PICU for one night and then we were able to move him to the Peds ward. We were overwhelmed by all the great nurses, RTs, doctors and staff at the University of Wisc hospital. Dr. Schroth and her team were wonderful and so were Dr. Shaaban and his team. Charlie doesn't seem to be in any pain or discomfort. He was back to his singing self by early Friday morning (the surgery was around noon on Thursday). He had all the doctors and nurses singing with him :0). Charlie will continue to eat food by mouth during the day and we'll supplement him over night via his tube. That way, we all can start to get a little more sleep around here ha ha! Thanks for all the prayers, support and good wishes. We couldn't do this without everyone! Blessings and hugs - Kim Oh by the way, Sidney did awesome during her procedure. She was home that night and ready to play soccer the next day! And our friend Lindsay Cochran, who underwent the g-tube and fundi up in Madison the same day as Charlie is on her way home today as well. So thanks again to the great staff and doctors at UW!

It's been awhile since I've had a chance to write. We are heading to Madison for Charlie's surgery in a few hours. Thank you for all of your prayers. We will update everyone as soon as we can. We think we'll be in Madison until early next week. Prayers for my niece Sidney as well. She undergoes a heart procedure on Wednesday (the day before Charlie). I know God will wrap his arms around them both and see them safely through their surgeries. Hugs to you all.

Charlie is such a joy and inspiration to us. He is always so happy. Even after a round of the cough assist or after using the suction machine -- something that I tell you would make me not happy -- he is ready to laugh, sing and smile. He loves to flirt with everyone. Get him on an elevator or out in a crowd and his "hi's" fill the air. He's always ready to sing "e i e i o" to Old MacDonald. Driving in the car, he entertains me with his Dadadad and Mamamam which he knows makes me laugh. I'm so amazed at how many words he loves to say and how he knows what to do to make us giggle. I just wanted to let you know how much of a joy he is to us. He loves to watch his sister jump and play. He loves to watch Barney sitting on his bean bag chair next to Lily. He loves to "sing" along when Barney sings his songs. I could go on and on. Just smile for Charlie and be happy. We are anxiously awaiting our big trek up to Madison in a few weeks. Keep Charlie in your prayers. We'll keep you posted. Hugs to you all and thanks for all your support.

Thank you thank you thank you! That's to all our friends and family who walked, sponsored and otherwise supported us for the 4th Annual Roefest Walk and Roll. We had such a great turnout. I believe the organizer (Natalie) said that we had more than 600 walkers and raised more than $30,000. I feel like we had 100s of people there wearing Charlie's pin! We'll post photos soon. Charlie's doing great! We are so lucky that he hasn't had any set backs. We are still anxious about the g-tube surgery, but know that it's the right thing to do while Charlie is healthy, strong and well.

Wow! That's all we can say. We are so deeply touched by all of your messages via email and the guest book. I'm glad the site is such a hit :0) I'm trying to figure out how to put a PDF on the site. Charlie (and mom and dad) were in the paper yesterday talking a little bit about SMA and the upcoming walk this weekend. It was a nice article. Hopefully, I can post it on the site soon. I'm still a newbie at this web design stuff. Charlie is still doing great. He is still fighting his ear infection, but it hasn't slowed down his laughing and giggling! What a trooper. Blessings to all!

This week we are getting ready for the 4th Annual Roefest Walk and Roll. It's a fund raiser for FSMA. We have so many friends and family signed up to walk or supporting us that we feel blessed. If anyone wants to join us, the walk is Saturday, October 2 at 8 a.m. You can sign up on line until Thursday, September 29 at www.active.com or you can sign up the day of the race starting at 6:30 a.m. We hope to see you all there! If not in person, at least in spirit.

Update on Charlie -- he has a little running nose and another ear infection. The poor guy seems to have ear infections all the time. He is such a trooper and never sad. We are lucky to have such a wonderful little boy.

We've had some changes in our plans. We didn't go to St. Louis because of two things. First, Charlie is scheduled for his g-tube surgery on October 21 at the University of Wisconsin Medical School. We decided to go up to Madison for the surgery since Dr. Schroth is there and their team is very good at getting SMA kids extibated after surgery. We will be heading up to Madison on October 18 for our clinic meetings and surgeon visit on October 19.

Second, we are also looking into another study at Stanford, so we didn't want to move ahead with the Rilutek study until we are sure what we want to do.

We are nervous about the surgery, but know that Charlie is strong and he is such a fighter. Keep us all in your prayers.

Hi Friends and Family --

Things here are going well. Charlie is still healthy and happy. We are looking into doing a clinical trial in St. Louis with a drug called Rilutek. Charlie and I are heading to St. Louis next Wednesday for the initial evaluation. So we'll have to keep you posted on that.

We are also looking into doing a g-tube proactively. It's been a hard decision to make since he is still eating well, but all the advice we get from other families is to do it before you need it.

Other than that, things are well. We still use the cough assist twice a day along with the suction machine. We aren't as good about using the Bi-Pap machine, but know that we need to get him on it every time he sleeps.

We'll keep you all posted.

As you may know, Kim and I finally had our appointment with the neurologist on Friday to see if they could figure out what is wrong with Charlie. The doctor is pretty confident that he knows what the problem is. They took some blood tests to be sure, but the neurologist said that Charlie presented all the characteristics of the disease. After spending some time on the internet and hearing the symptoms, I will be shocked if the test results do not confirm his thesis as Charlie does fit the description very closely. But even if this test does come back normal, he assured us that Charlie's ailment would be something very similar to what he believes.

The past 28 hours have been the saddest of our lifetimes, and the diagnosis is devastating. I am writing this because I know I would be unable to talk to you about it on the phone(just ask mom and dad). Charlie more than likely has what is called Spinal Muscular Atrophy(SMA). It is a genetic disease that has no treatment and no cure at this point. SMA is a disease of the anterior horn cells which are located in the spinal cord. SMA affects mainly the proximal muscles, which are the ones closest to the trunk of one's body. Overall muscle weakness with weakness in the legs usually greater than in the arms, and difficulty holding up one's head are the primary symptoms. Senses are normal and often patients with this disease are unusually bright and sociable. A critical and unique symptom is tongue fasciculation(tremors) which the neurologist observed immediately in Charlie. As I went through the symptoms on the website it became very clear to me that this is what Charlie has. It is not clear which Type(how severe) of the disease he has, but he definitely has some of the symptoms that suggest the more severe type of the disease. Not all of them though, so we are hopeful.

I don't know an easy way to tell you the prognosis, so I am just going to tell you. We will not know for sure for a few weeks(until the blood test gets back) and we do not yet know which type of the disease Charlie has, but as I mentioned he seems to have some symptoms of both Type I and Type II. For those children with Type I, these kids will never sit up on their own, never stand, and never walk. Death usually occurs in the majority of Type I cases by 2 years of age. Basically they struggle to clear their lungs and usually succumb to pneumonia or respiratory infections. Charlie presented symptoms earlier than many Type II cases do and has the tongue tremors, but he does not have trouble swallowing(obviously) and doesn't have trouble breathing. So he doesn't seem as vulnerable as those other symptoms would seem.

For Type II cases, they may be able to sit, but they will rarely stand or walk. They will spend their lives in an electronic wheelchair. Death usually takes place between age 3 and adulthood. Kids living past college age seems to be the exception. Basically as the body grows the weak breathing and coughing muscles become a bigger problem. So if they live they will grow, but as they grow it gets harder to live.

It is also common for kids to have a blend of Type I and II, so it is not necessarily one or the other. Out best guess would be somewhere in between, but clearly not just Type II as the symptoms appeared too early in our little guy's life. SMA patients are often smarter and more social than the average child and the neurologist said Charlie will be completely normal mentally. We cannot decide if this is better or worse, but believe it is a blessing that at least he can understand the love we have for him along with understanding his limitations. There is a great website at www.fsma.org where you can read in more detail about the disease. I only tried to summarize it a bit.

Bear in mind, each case is individual and there is no perfect science to this. I just want to be up front about how serious it is and what the odds seem to suggest. The doctor seems very confident of his diagnosis, and even called our pediatrician with it. If there was a reasonable hope I probably wouldn't have sent this. The doctor described it as like Charlie having Lou Gherig's Disease(ALS) in which he is normal mentally but his body is too weak to basically sit or stand unassisted. But whereas ALS hits people in mid-life after they have had at least a partial life, SMA hits kids early on. So while there is hope that Charlie has a similar form of this that may not be as deadly, the doctor was pretty clear that whatever it ends up being the wheelchair piece seems almost a certainty.

Kim and I are doing OK. We are not angry or frustrated, but the waves of extreme sadness hit really hard as we consider the life Charlie faces. Nobody ever figures on losing a child and I cannot imagine anything worse. Knowing Charlie as we do, we feel blessed to have him and only hope we have many more years with our happy guy. Hopefully God sent him to us because he thinks we have the strength and love to give him the happy and love-filled life that he deserves. It is hard to imagine going on with other parts of our lives after getting this news. Those things all seem so trivial now. It's as if that 60 minutes with the neurologist has changed everything. Our focus will be even more on our kids and their happiness from here on.

Thanks for all the prayers and support you have already given. I will try to talk to you over the coming days and we will let you know new developments as they happen. Telling you guys is tough because it makes it all the more real. The past day has been a blur and when I woke up in the middle of last night the sadness was overwhelming again as the gravity continues to set in. But today is better than yesterday and soon sadness will give way to action and effort as the details become certain and the course of the future can be set. Please pray that Charlie can have a happy life, as that is all we care about right now. We'd appreciate it if you wouldn't share this with many people outside our immediate family until the blood test confirms the diagnosis. We love you guys and hope all is well.