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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)