Allergies?

Ben has an appointment today with his new allergist. 

A few weeks ago, after eating at Steak n Shake, we noticed his face and lips were swollen.  This is the third time it has happened.  It happens sporadically, and we cannot figure out what causes it.  His pediatrician is concerned that it could be an allergic reaction and he gave us an epi-pen just in case it happens again and he has difficulty breathing.

Actually, the last time it happened was November 28, 2009, when he was first diagnosed with MD.  I took him to the emergency room and the doctor looked at his stomach and legs to see if he had a rash.  He did not.  However, she is the one who noticed his large calf muscles.  This is the day when all the other ER doctors came into our room and we were told that they strongly felt he had Muscular Dystrophy. 

After that episode, we had allergy testing done, along with the genetic testing for DMD.  The allergy testing came back negative.  It is all very confusing.  Now that the swelling has happened again, it is getting very concerning.  We have no idea what could be causing this.  He wasn't on any medication when it happened the first 2 times.  We are praying that they are able to figure this out so that we don't have more severe problems.

Fundraising

As many of you know, we try to participate in some type of fundraising, advocacy, promotion, or bringing some type of awareness to Duchenne. This is the time of year that the shamrocks are appearing in stores and restaurants. Also, it is the time of year for the MDA Muscle Walk!

A friend of mine sells Tupperware and shared with me that they do FUN'raising. They will donate 40% of the proceeds in their Fun'raising booklet to the charity of my choice.

So, if you want some great Tupperware, and want to support a great cause, check out my link here.

http://order.tupperware.com/pls/htprod_www/!twx$eparty_ctl.p_guest_welcome?pv_eparty=6137d11bd4f7882195a25263ebd547b9

"8" is the Magic Age

My baby boy turned 8 last week! Bittersweet.

When we were diagnosed, we were told that 8 is the year that DMD boys begin to decline. Their muscles are not growing anymore, giving the appearance that the DMD might not be as bad as we were told. The ages of 6-7 are considered the honeymoon years, muscles are still growing and it really looks like they may be getting better. I have secretly thought that Ben may have Becker's MD, and not Duchenne. I know that it is wishful thinking. For those who don't know, Becker's Muscular Dystrophy is on the same gene, but is not as severe. Those with Becker MD live well into their mid to late adulthood.

There is some good news though. When we were diagnosed a little over 2 years ago, we were told that survival rate is in the late teens. As of today, that has increased to mid-to late 20's. Progress is being made, and I am thankful but I want more. I want a cure. I pray that it is found in time. So many boys have died waiting for better treatments and a cure to be found and my heart goes out to their families. It is heartbreaking every time I hear of another boy/young man who has lost the battle.

But I am living for today, enjoying our time and keeping those thoughts on the back burner and not the forefront of my mind. I don't want to have any regrets of worry or fear. I am still trusting God. I know that nothing will happen that He doesn't already know about and have complete faith that no matter what happens, God is in control.

Psalm 147: 3 He healeth the broken in heart, and bindeth up their wounds.

Psalm 147:5 Great is our Lord, and of great power: his understanding is infinite.

Updating

I just realized that I have not posted any updates for a while. Yeah, we've been BUSY.

Ben is close to getting his braces off of his bottom teeth. The orthodontist removed the ones from the top in early December. He should be brace-free in the next 3 weeks or so.

We have removed one of our van seats to accomodate keeping the medical stroller open and ready to use at all times. It has been so much easier than fighting to open and close it each time we use it. It has helped him out tremendously by allowing him to preserve his strength for the fun stuff.

There were some difficult times in December, after getting his Deflazacort from a different manufacturer. Normally, we order his medicine from the U.K. from a company that many Duchenne families use. Someone brought to my attention in November that a company in Canada was having a great deal on various prescriptions for new customers. The 'Black Friday' special meant that we could get a 3 month supply for the cost of shipping. I decided to try it. When it came in the mail, I discovered that I ordered it from Canada, it was made in India, and they shipped it from Barbados?! I knew others family had been long-time users of it so I thought it was fine.

About a week after giving him the new drug (well, same drug, different maker), we experienced what they call 'roid rage. Whew! Angry outbursts, crying, definance, throwing himself down, it was awful. It was so tempting to just take him off drugs altogether. After about 5 or 6 days, he began to level off and is back to himself. Thankfully.

The usage of steroids are controversial amongst Duchenne families. It's a shame that there are not more options out there. Steroids help preserve muscle strength but they also take the Calcium out of the bones. They help, but there are side effects. I make sure that he gets plenty of Calcium supplements and other vitamins to keep him healthy.

He has clinic again in a few weeks. He will be seeing the Cardiologist this time for another echo and EKG. He will also see the eye doctor and the dentist that week too. Busy, busy times.

I will try to be more faithful in updating in the future!

Make a Muscle-Make a Difference

Our family will be participating in the MDA Muscle Walk on March 26, 2011. We have also become MDA volunteers for the Shamrocks for Dystrophy program. We feel that since we have benefited from the MDA, it is a little something that we can do to give back.

• Muscle Walk- We are raising money and awareness for MDA. The actual walk will be March 26. Me, my husband, our 6 children, and our parents will be participating together. You can see our muscle walk page here.
• Shamrocks for Dystrophy- Have you noticed any stores or restaurants with the little green shamrocks hanging up? This is another fundraiser that helps raise money for clinic visits, the summer camp, and research. The way our family volunteers is that we go to specific stores that participate and simply thank them. We were given fun incentives that we can pass out to the cashiers and other workers. It is nice for these companies to put a face to what they are doing.

I like feeling like we are doing something to help or contribute in some way. There are so many wonderful organizations out there that benefit Muscular Dystrophy in some way, and we are thankful for all of them.

New Clinical Trial

A representative of Kennedy Krieger Institute has recently informed me of a new clinical trial for boys with Duchenne Muscular Dystrophy. They are checking to see if the drug Revatio (same drug that is in Viagra) would be beneficial as a cardiac drug for DMD patients. They are still recruiting for this trial. They plan to have 30 boys, ages 15 or older, who have been diagnosed with DMD. For more information, or to see if your son qualifies, click here.

I have recently read about the potential benefit of this drug in boys with DMD in a Quest article. I am so thankful for so many researchers trying to help these boys!


About the Kennedy Krieger Institute
Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 16,000 individuals each year through inpatient and outpatient clinics, home and community services and school‐based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit www.kennedykrieger.org.

Reflecting and Other Stuff

I don't know why, but I have been reflecting on Duchenne more lately. Maybe it is because we are coming up on the first anniversary of our diagnosis. Perhaps it is just a time of year where life slows down a little and there is more time to think. Thinking about it too much is rather depressing. Pondering the future and what it may hold for our son and our family is a frightening thing for me.

I have also been reading about other DMD boys and young men on my facebook page. It is just so sad for these boys to have to go through this. Sometimes, if I read too much, it puts me in a melancholy kind of mood.

Benjamin has not started the increased steroids yet. I wonder if this may be why he is walking a little different. Things have settled down into more of a routine this week, so I don't believe that it is due to fatigue. Not that I think about it, he has been sleeping in quite a bit. He stays up late (midnight) and gets up about 9:30am.

I forgot to mention that in mid-October, he showed me a large, black bump on his gums, right above one of his baby teeth. I thought it looked like an asbcess and called the dentist. They got us in later that afternoon. Sure enough, it was an abscess. On the drive to the dentist, it had popped (ewww!). They took an x-ray and thought they saw something odd, so they took another. Sure enough, the strange thing they were seeing on the x-ray was part missing root to his baby tooth. They called it "internal resorption". Apparently, the root reabsorbed into his gum and caused the infection. The scary thing is: Ben said it didn't hurt!! It looked horrible!

The dentist decided to pull the tooth, but then was unable to get the remaining part of the root. She tried and tried and then Ben lost it. He was crying so loud. Even though he was numb, he could still feel the pressure of them digging in the gum for it. She finally stopped and said that now that the tooth was out, the infection could drain naturally and the root would eventually work its way down. We go back to check on it next week.

I wonder if the steroids (which cause bone loss) may have caused it. They said no, but I am not sure. He now has another baby tooth that is loose and has the grown-up tooth growing in behind it. I am going to wait until our appointment and have them pull it while we are there.

I am so thankful that I know the Lord Jesus Christ. I truly find my comfort in Him. I know that He holds our future in His hands and I am so grateful for His grace.

November already?!

I cannot believe it has been almost a whole year since we have found out about Ben having DMD! Actually, November 28th to be exact. In some ways it still seems so new and that we still have so much to learn. I have gone in spurts in my research over this last year. Right now, I am in the middle of taking a "research break". We've been too busy with other things recently.

This last week, our church had revival. Being the pastor's family, this was a time consuming week! But, oh so wonderful!! We had a great time! I did notice that Ben fell more this week and I wonder if it is because he was tired. We stayed up late, and were busy almost all day, every day. He fell a few times each day :o(

At our last clinic appointment, Dr. Flanigan said that he wanted to increase his steroids from 15 mg per day to 18 mg. He also said to use up what we have and then start it. We still have about 3 weeks' worth left. This increase should alleviate him falling so much again.

Other than the falling this last week, he is pretty much the same. I did notice that he scooted down the stairs a few times instead of walking down them. He has not been real consistent in wearing his night splints. They just don't seem to fit right. Dr. Flanigan said if it continues to be a problem, he will need to be fitted with a different kind, and the new ones would not be adjustable.

That's it for now.

My Comfy Spot

I have been sitting in a comfy spot recently. This comfy spot consists of pretending nothing is wrong with my son. It is so easy to do. It's comfortable. Knowing that he has a fatal disease is always in the back of my mind somewhere but I am not dwelling on it right now. Right now, we are living it up and enjoying life! Plus, the simple fact that I have 6 children keeps me busy enough to not have to think about it all the time.

Today, I made appointments for all my kids' yearly check-ups. I usually try to schedule them 2 at a time so I only have to go 3 times instead of 6; it's just easier that way! This time however, I requested that Ben be seen by himself. I have a lot of questions for our pediatrician that I need to have answered. One of them being, why haven't we heard from him in the 7 months since our diagnosis. I mean, if I was a doctor and had a family that I have been seeing for 15+ years, I think I would call or something after learning one of them has been diagnosed with a life-threatening disease. But I guess that's just me. I am no doctor, just a mom. I was grateful that Ben is also 1st out of my 6 to be seen. This way, I can get it all out in the open before all the other children are seen.

Ben will also go back to the place where we have ordered his night splints in a few weeks. They have been ordered and we will go in for another fitting. We will then begin wearing them each night, all night, to keep his heel cords stretched. This will prevent the need for surgery and will also keep him walking longer.

I made the mistake this morning of reading a thread on facebook from another DMD mom. I have been in my comfy spot for about 2 months, all the while still researching and reading everything I can on DMD. This morning, however, I read someones' status about remembering the life of a loved one, and not their death. Then I read the comments. Bad idea :o( These folks have all lost sons to DMD, and some of them were young. I felt myself slipping away from the comfy spot.

But, I like it there too much and I think I'll just stay for a while.

Disability Placard

We got Ben's disability placard today. I had never really thought about it until reading some comments on my Duchenne Muscular Dystrophy MOMS page on facebook. Even though he is not in a wheelchair yet, he does get tired with a lot of walking. It isn't too bad just going to the grocery store; we usually just get one of the car carts and he is fine. I don't plan on using it at the grocery store for that reason, because we don't need it there yet. For now, I just plan on using it when there is a large parking lot and no carts nearby.

I really got to thinking about it because my husband is on vacation from work this week. We have plans on going to several places that require a lot of walking. I saw that someone mentioned, "why waste all his energy in the parking lot?" Good question. I asked our doctor at clinic and he said something like that was up to me for when I felt we were ready for it. He wrote the prescription for it and I took it to the BMV today.

I guess the next step is actually using it.

AWESOME Time at Clinic!

Ben getting bored waiting. I think he was rolling his eyes at me!

We had great day at clinic today! We met our new neurologist, Dr. Flanigan, and we just love him! We learned new things and had an encouraging appointment.

Our clinic involved seeing the genetic counselor. I let him know that I had received my results of my own DNA test and that it indicated that I am not a carrier. He was pleased to hear this-it significantly lowers the chance of my daughters being carriers.

Next, the neurologist, study coordinator, PT, and several others (I don't know who they were) came in. Ben got a little nervous when the room suddenly got crowded, but Dr. Flanigan totally made him feel at ease. He listened to his heart and lungs and then checked his back (I think for signs of scoliosis-a common problem in DMD kids). Then he let Ben listen to his own heart :o) He enjoyed that part!

His favorite part was getting to run down the hall to check his ability and speed. He ran pretty fast! The doctor then asked me if he had a muscle biopsy. He has not had one of those since he had the DNA test to confirm Duchenne. The doctor was pleased with his running.

There are several ways that they test muscle strength. One is the running. Another is having them lay flat on their back and then lifting up their head to touch their chin to the chest. He did this very well! Dr. Flanigan told me that he is doing better than most 6 year old DMD kids! That was music to my ears!

I had all my questions answered too. I took in my list and went through them one by one. He also explained, along with the PT, how to do his stretches better. We will be getting night splints soon too. Then he said something that was VERY exciting! He made the comment that we need to keep Ben walking because there will be an exon skipping trial in the near future-that will help Ben! Very exciting indeed!

The Lord is so faithful :o)

Clinic Time!

We have another clinic appointment coming up on Wednesday. I'm excited about it (sort of) because I have a better grasp of what we are dealing with and know how to direct my questions. We will be seeing a new doctor, as our neurologist has moved away. I am eager to see who it will be. From the ones that I have met so far, I would be happy with any of them. They are doing tremendous work at Nationwide Children's Hospital in the area of Duchenne Muscular Dystrophy!

Our current medicines & supplements include:

• Deflazacort (steroids)
• flax seed oil (in the capsules)
• multi-vitamin with extra vitamin C
• Calcium chews (600 mg)
• Vitamin D-helps the Calcium absorb better
• Vitamin E
• Selenium-helps the Vit E
• Vitamin C-just added this one last week

I still have much to learn! Ben is doing pretty good right now. We are living normally, just making adjustments as we go. We recently got a wagon for him for when we are places that require a lot of walking. I am also going to be applying for a disability placard for our van after his clinic appointment this week. Since children who have DMD get tired so easily, why waste all their energy in the parking lot and not the intended place??

We took a trip to COSI this past week. It is a hand's on-science museum. They had Big Machine's week and the boys had a blast! Living it up :o)

MDA Stride & Ride PICS

Yesterday was hard. I thought I would be fine and I guess i didn't really think about it too much. We got there and were told where to go for registration. That part was okay, it took a few minutes registering all the kids. We then walked over to our team's table to get our shirts and badges. Then I actually looked around.

Wham!

Reality set in AGAIN. My son has Duchenne Muscular Dystrophy. Wow. My son will experience the same things as these boys. Power wheelchairs. Not regular wheelchairs...power ones. Their arms aren't strong enough to get them around. The heartbreaking thing I saw was the team that was walking in honor of their loved one who died.

While it was tough, I am so glad I went. I saw a group of people come together for a purpose. That purpose is to help these boys (and girls) by raising awareness and raising funds for research. Out of the 120ish people that were there, more than $12,000 was raised and contributed to the MDA.

God's grace is sufficient. I am trusting in Him. I know that He will not fail me. In whatever may come, He will still be God and he will guide us through this journey.

MDA Stride & Ride

Getting ready to leave for guitar class

This weekend, we will be participating in our first MDA event. It is the Stride & Ride and it is a fundraiser/awareness-raiser for the many different forms of Muscular Dystrophy. I am looking forward to it for several reasons. One, we will see a family that we have known for a little while and it is nice catching up. Two, we will meet many other families who are dealing with the same issues as we are, and they will be local families. I have really enjoyed getting to "meet" other DMD moms via Facebook but it is also nice to meet people in person too.

Right now, I am in one of the "up" moments with DMD. The ups and downs keep coming and going. Since the beginning of April, our family has been insanely busy, thus the reason for my lack of posts. I will try better to keep current! There really hasn't been a whole lot to report though, which I suppose is a good thing. He is running, peddling, learning to play the guitar, doing his schoolwork, just like a normal 6 year old boy. Sometimes it is easy to forget that he has it. I like forgetting. I am not looking forward to the day that it is in my face (as Misty would say!!) all the time. I am not in denial, just enjoying our time.

During our Mission's Conference, we had one of our missionary families at our house and the wife, who is now my friend :o) wisely told me that his abilities aren't going to all of a sudden stop, they will be gradually slowing and we should be preparing for that in regards to our home and making it wheelchair friendly. Wow, that hit me like a ton of bricks. But she's right. That's exactly what will happen. He won't go from completely walking to completely needing a wheelchair to get around. He will gradually have to use a wheelchair more and more, so we need to prepare for when the gradual need arises. Does that make sense? I am probably rambling...it is late, but it makes sense to me.

I will absolutely post pics of the Stride and Ride event this weekend! Hope you all have a great weekend ;o)

Busyness

We are having such a busy time right now. Spring seems to be a time of not only the earth waking up, but us too. We will be attending several church meetings this month and also hosting our own. We are having our first Mission's Conference at the church my husband pastors, Old Paths Baptist Church. Our vacation is coming up too. Whew! Makes me tired thinking about it!

In all actuality, I am glad for the busyness. It helps me to put other things out of my mind for a little while. Since Ben is still young and not in need of devices or aids yet, such as a wheelchair, vent, etc, it is easy to forget sometimes that he has MD. In fact, in the 2 1/2 months that he has been on Deflazacort, he has been able to peddle a tricycle, RUN (pretty fast!), not fall as much, and in general he is just doing better all around. So, you see, right now it is somewhat easy to forget. I like not having to think about it. When I sit and truly ponder the future and what it holds for Ben, I get sad, scared, and weepy. It is not good for me or my family.

As for our vacation, we are going to a homeschool conference in Tennessee. It is set up like a ranch/cowboy town. The kids are so excited! (we are too ;o) ) It will be nice to get away for a time and just regroup as a family, while meeting other families too.

Today, we are going to my brother-in-law's house and celebrating my oldest daughters' birthday. She turned 16 this week...where has the time gone? A day of fun for everyone!

I think I'll keep the busyness for now.

The Jett Foundation

Here is a website that has been created to raise awareness and funds for Duchenne Muscular Dystrophy.

www.jettfoundation.org

Also, a video they put out that really puts real-life perspective on this horrid disease.

Peddling ;o)

My son rode a tricycle for the first time today!





He has never been able to peddle and since our DMD diagnosis, I never thought he could. He sure proved me wrong today when he spied a friends tricycle and got on. It was a blessing to see!

Animated Video about DMD

I found this video on a facebook page, dedicated to DMD research.

Home!

We had our first MDA clinic yesterday. It was VERY informative! I had my long list of questions, patiently answered by the many doctors we saw. I am encouraged about some things too. I will give a brief breakdown of the appointment.

• We are now a part of 2 clinical studies that will not necessarily help Ben immediately, but will help future Duchenne children.

Clinical Study #1: United Dystrophinopathy Project
This study will require us to be seen once per year at Nationwide Children's Hospital for a blood draw, physical therapy/muscle testing, and a questionnaire. Doesn't seem too hard :o)

This study will pinpoint precise mutations (changes) in the dystrophin gene and aims to understand how these mutations determine the symptoms and severity of Duchenne and Becker dystrophies. (taken from the MDA website).

Clinical Study #2: Cardiac Myopathy Project

This one will require us to have an echocardiogram yearly (which he has to do anyway) and when he begins to have problems with his heart function, they will give him a drug that will improve function and possibly help the skeletal muscle.

This study will show the relationship between the mutation in the gene and the muscle strength and heart function-and how they change over time.

A double-blind randomized clinical trial of lisinopril versus losartan is proposed. Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have both delayed the onset and progression of left ventricle dysfunction in children with DMD. (taken from the Nationwide Children's Hospital website).

• Genetics

We saw a genetic counselor because this is a genetic disorder. Even though we aren't having anymore children, they want to see if I am a carrier of this disease. This disease is always passed from a woman to a son, it is an "X" linked gene. They are doing this for several reasons.

1. If I am a carrier, this means that I have a 20% chance of displaying muscle weakness and having a heart problem myself. Women who are carriers can have sons born with or without the disease, they can have daughters who are or are not carriers of it.
2. If I am a carrier, then my sister on my mom's side needs to be tested to see if she is also a carrier. My sister on my dad's side does not have to be tested, because we have different mothers.
3. My daughters all have to be tested, regardless if I am a carrier or not, because they have a sibling with it. They will be tested when they are ready to have children or are age 25, whichever comes first. If any of them are carriers, they too would have the potential of muscle weakness and/or heart issues. Carriers have their hearts checked beginning at age 25 and will continue every 5 years.
4. If my test is positive for being a carrier, my daughters have a 50% chance of being a carrier. If my test is negative, they have a less than 10% chance of being a carrier themselves.
5. Since I have 2 other sons who do NOT have Duchenne, my own chance of being a carrier is one third.

Whew! That was genetics 101.

• Nutrition stuff

I asked a lot of questions of nutrition, supplements, better food choices, etc. Good nutrition is good for everyone, but, because Ben is on Deflazacort, he has the potential of gaining too much weight. This would obviously make his muscles work harder when they are losing strength. Here is a summary:

1. We need to limit sodium intake. Fluid retention should be avoided, especially with Deflazacort.
2. Deflazacort causes weakening of the bones, so I have been giving Ben calcium chews and Danactive (which is also a probiotic) daily. You CAN get too much calcium, so we do need to watch it.
   
3. Berries are excellent! Any type of antioxidant are just plain good.
4. Whole grains good.
5. I asked about my big Vitamin E question...and got an answer! I am allowed to give him up to 400 mg per day. We will start this today.
6. Creatine supplements are NOT beneficial. They used to recommend this but do not anymore.
7. Watch the type of fruit...fruit can have a lot of natural sugar (grapes, bananas). Moderation is key.

So a lot of this stuff we already knew and have been implementing. And it is just plain good healthy eating for THE WHOLE FAMILY!

• Appointments

• We will go to MDA clinic every 3-4 months.

• We will see the cardiologist yearly, until be starts having problems.

• We saw the respiratory therapist yesterday and his lung function is excellent! Yay Ben!

• Miscellaneous

I also learned the the high level of the CK test does NOT indicated the severity of the disease-one of my questions. That was a relief. We will start some swimming lessons for physical therapy. I don't have to restrict him from playing with his siblings, which was a concern for me. My boys can play, well, like boys lol.

They also had a representative for MDA come and talk to us and explained to us the benefits of becoming a member of their organization. They help financially with equipment, when the need arises, and they help with clinic appointments. I will be getting their quarterly Quest magazine (which you can also read online). I am already a member of MyMDA on the internet--look for me, my name is lapfam8.

Well, that about sums it up. I am still sorting out some info just because there was SO MUCH. He was pretty tired when we got home, understandably so! Here are a few pics from the day.

Ben was tired here...not too happy to have his pic taken!

This was the respiratory therapist's room. He had to "blow out candles" on the computer screen, he liked this part :o)

MDA clinic TOMORROW!

Tomorrow is Ben's first MDA clinic appointment! It was supposed to have been 2 weeks ago, but they canceled due to the weather. I have been looking forward to this appointment for a long time...since his diagnosis on December 29.

Some things that I am looking forward to are asking my numerous questions! I have learned so much in the last 3 months-more than I would have wanted to know really. But I have questions that are specific to Ben. Today is one of those days where I am optimistic, hopeful that the cure for Duchenne is just around the corner. Not every day is like this, I also have my days where I am just sad, frustrated and overwhelmed. I like days like today.

I am so thankful for the community of DMD folks; for sharing their stories, their information, etc. I have learned so much and still have a lot to go! If we continue to come together, our voice for the need for a cure will be stronger and louder. Are you doing your part? Are you making a difference for your son, nephew, cousin, brother? What about future sons, nephews, cousins, or brothers? Let's do our part in making Duchenne a common household name and therefore putting it out there and letting people know that there still IS NOT a cure.