MDA MuscleWalk 2012

It's that time of year again! The MDA MuscleWalk! Our family will be walking and raising money to support the MDA. They have been a huge benefit to us since we were diagnosed a little over 2 years ago.

Please consider a donation today, in honor of Benjamin.


http://www.youtube.com/watch?v=BhF7rY16FD8&feature=youtu.be

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.

MDA Telethon-Be a Star!

We have signed up to help with the fundraising effort for the MDA. We are huge benefactors of this organization and we want to try to give back a little. The MDA pays for all of Ben's clinic visits, and also provides funds for equipment repair, summer camp, and research.

If you are interested in donating to the MDA for the Labor Day Telethon, just click the link!

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.

Just some info on Duchenne

DUCHENNE MUSCULAR DYSTROPHY

Age of onset:	2 to 6 years
Inheritance / gender affected:	X-linked / males
Muscles first affected:	Pelvis, upper arms, upper legs
Progression:	Slow, sometimes with rapid spurts

DUCHENNE muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. Early signs of Duchenne, which usually occur between the ages of 2 and 6,

Read More:
	Facts about... Duchenne & Becker

include frequent falling, difficulty getting up from a sitting or lying position, and a waddling gait. Another hallmark is the apparent enlargement of the calf and sometimes other muscles, which is really due to an accumulation of fat and connective tissue in the muscle. A blood sample shows a very high level of creatine kinase (CK), an enzyme that leaks out of damaged muscle.

In Duchenne muscular dystrophy, posture changes as the child grows.

Progression varies somewhat from child to child. The use of orthopedic devices and physical therapy can prolong the ability to walk. Frequently, however, a wheelchair will be needed by age 12.

Mild mental retardation has been noted in some (by no means all) boys with Duchenne dystrophy.

Breathing becomes affected during the later stages of Duchenne, leading to respiratory infections. These are often successfully treated with antibiotics and respiratory therapy. Severe respiratory and heart problems mark the disease's final stages, usually in the boy's teens or early 20s.

In 1986, MDA-funded researchers identified the gene that, when defective, is responsible for Duchenne muscular dystrophy. They discovered that the gene's failure to make a working version of the muscle protein dystrophin is the cause of the disease. Most boys with Duchenne have little or no dystrophin in their muscles.

Further research has shown that dystrophin is attached to other proteins at the edge of muscle fibers and that it probably helps anchor the fibers to connective tissue surrounding them.

*This was taken from the MDA website.